Healthy Without Chemical Why Not

How to lose weight fast (part-1)

2011-10-25T19:49:00.000-07:00

How to lose weight fast

1. Drink plenty of water. First how to lose weight fast tip is that our body needs a lot of water so give in to water. Water is not just way to flush out toxin but if you have more water in your body you will generally feel healthier and fitter. This it self will discourage any tendency to gorge. The best thing about water is that is has no calories at all.

2. Start your day with a glass of water. As soon as you wake up, gulp down a glass of cool water. It’s a wonderful way to start you day and you only need a lesser quantity of your breakfast drink after that. A glass of water lets out all your digestive juices and sort of lubricates the insides of your body. You may have your morning cup of tea but have it after a glass of water. It is good for you.

3. Drink a glass of water before you start the meal. Water naturally needs some space so that you feel fuller without actually having to stuff yourself.

4. Have another glass of water while you are having the meal. Again this is another great how to lose weight fast super tip and a way of making yourself full, another great weight loss tips, so that you can actually rise from the table eating less but feeling full just the same. Instead of drinking it one gulp, take sips after each morsel. It will help the food to settle faster so that you get that feeling that you are full faster. SIDENOTE: Water is such a remarkable thing, but seldom do we give it the credit that it deserves. Did you know that over 66% of your body weight is nothing but water’ It’s amazing! Water also plays a vital role in weight control, which is why I donated so much space to it, above.

5. Stay away from sweetened bottle drinks, especially sodas. Hey all those colas and fizzy drinks are sweetened with sugar and sugar means calories. The more you can cut out on these sweetened bottle drinks, the better for you. So if you must drink sodas, then stick to diet sodas.

How to Lose Weight Fast

how to lose weight fast

6. Include in your diet things that contain more water like tomatoes and watermelons.These things contain 90 to 95 % water so that there is nothing that you have to lose by feasting on them. They fill you up without adding to the pounds.

7. Eat fresh fruit instead of drinking fruit juice. Juice is often sweetened but fresh fruits have natural sugars. When you eat fruit, you are taking in a lot of fiber, which is needed by the body, and fruits of course are an excellent source of vitamins.

8. If you do have a craving for fruit juice then go for fresh fruit juice instead of these that contain artificial flavors and colors. Or even better, try making your own fruit juice taking care not to sweeten it with too many calories.

How to Lose Weight Fast – Foods

9. Choose fresh fruit to processed fruits.Processed and canned fruits do not have as much fiber as fresh fruit and processed and canned fruits are nearly always sweetened.

10. Increase your fiber intake. Like I mentioned, the body needs a lot of fiber. So try to include in your diet as many fruits and vegetables as you can.

11. Go crazy on vegetables. Vegetables are your best bet when it comes to how to lose weight fast. Nature has a terrific spread when it comes to choosing vegetables. And the leafy green vegetables are your best bet. Try to include a salad in you diet always.

12. Eat intelligently. The difference between man and beast is that we are driven by intelligence while beasts are driven by instinct. Don’t just eat something because you feel like eating it. Ask you’re self whether your body really needs it.

13. Watch what you eat. Keep a watchful eye on every thing that goes in. Sometimes the garnishes can richer than the food itself. Accompaniments too can be very rich. Remember that it is the easiest thing in the world to eat something without realizing that it was something that you should not have eaten. Selective memory you know’

14. Control that sweet tooth. Remember that sweet things generally mean more calories. It is natural that we have cravings for sweet things especially chocolates and other confectionary. Take this weight loss tips seriously and go easy on theses things and each time you consume something sweet understand that it is going to add on somewhere.

15. Fix times to have meals and stick to it. Try to have food at fixed times of the day. You can stretch these times by half an hour, but anything more than that is going to affect your eating pattern, the result will either be a loss of appetite or that famished feeling which will make you stuff yourself with more than what is required the next time you eat.

16. Eat only when you are hungry. Bonus how to lose weight fast tips here–> (make sure you are not just thirsty!) Some of us have the tendency to eat whenever we see food. We use parties as an excuse to stuff our selves. Understand that the effect of a whole week of dieting can be wasted by just one day’s party food. Whenever you are offered something to eat do not decline it completely bit just break of a nibble so that you appear to mind your manners and at the same time can watch your diet.

17. Quit snacking in between meals. Do not fall for snacks in between meals. This is especially true for those who have to travel a lot. They feel that the only time they can get a bite to eat is snacks and junk food. The main problem with most snacks and junk food is that they are usually less filling and contain a lot of fat and calories. Just think about French fries tempting but terribly fattening.

18. Snack on vegetables if you must. You might get the pangs of hunger in between meals. It is something that you can very well control. Or even better, try munching on carrots. They are an excellent way to satisfy those hungry pangs and are good for your eyes and teeth. True, you might end up being called Bugs Bunny, but its miles better to be called Bugs Bunny than fatso.

19. Go easy on tea and coffee. Tea and coffee are harmlessby themselves. It’s when you add the cream and sugar that they become fattening. Did you know that having a cup of tea or coffee that has cream and at least two cubes of sugar is as bad as having a big piece of rich chocolate cake’

20. Try to stick to black tea/coffee.Black tea or coffee can actually be good for you. But personally I would like to recommend tea rather than coffee. The caffeine in the coffee is not really good for you because it is an alkaloid and can affect other functions of your body like the metabolism.

21. Count the calories as you eat. To lose weight fast it’s a good idea to have an idea of the calories that most food items have. If it is a packed thing then the label is sure to have the calories that the substance has.

22. be sure to burn out those extra calories by the end of the week. If you feel that you have consumed more calories than you should have during the week, it happens you know, and then make sure that you work off those extra calories by the end of the week.

23. Stay away from fried things. Fried things are an absolute no-no. The more fried things that you avoid, the lesser weight you will gain. Fried things are called so because they are fried in oil or fat. And even if the external oil is drained away, there is still a lot of hidden oil in it so stay away from it.

24. Do not skip meals. The worst thing you can do while watching you diet is skip a meal. It has just the opposite effect of what you want. You need to have at least four regular meals every day.

25. Fresh vegetables are better than cooked or canned vegetables. Try to eat your vegetables raw. When you cook them, you are in fact taking away nearly half the vitamins in them. And canned vegetables too are processed and are not nearly half as good a method of how to lose weight fast as fresh vegetables. When you buy your vegetables it would be a good thing to see if the label says that it is pesticide free.

26. Nothing more than an egg a day. Eggs are not such a bright idea. It would be best to reduce your intake of eggs to maybe three in a week. But for those of you die hard egg fans, you may have up to one egg a day but nothing more than that.

27. Make chocolates a luxury and not a routine. Chocolates are not or at least they should not be a part of your diet. So do not indulge too much in them. Even the bitter chocolates are not good for you because though the sugar is less there is still the cream in them.

28. Choose a variety of foods from all food groups every day. This is a fine way of keeping deficiency diseases at bay. Change the items included in your diet every day. This is an excellent way of keeping deficiency diseases at bay and it helps you to experiment with a variety of dishes and there by you do not get bored of your diet.

29. If you can say no to alcoholic beverages please do. Alcoholic beverages too are not good for you. Beer can be fattening and the rest of the alcoholic drinks may not be fattening by themselves but after a couple of swigs you will be in no position to watch your diet and your appetite too will be something to battle with.

30. Try to have breakfast within one hour of waking. The first critical part of the day in how to lose weight fast is you have to start your metabolism early. It’s always best to have breakfast within an hour of waking so that your body can charge itself with the energy it needs for the day. The idea is not to wait for your self to get really hungry. Breakfast is the most important meal of the day but that does not mean that it should be the most filling meal of the day.

How to lose weight fast food tips (part-2)

2011-10-25T19:47:00.000-07:00

How to lose weight fast food tips

31. 50 to 55% of your diet should be carbohydrates. It is a myth that you should try and avoid carbohydrates when you are on a diet. Rather the other way round I should say. Carbohydrates are a ready source of energy and so 50 to 55% of your diet should be carbohydrates.

32. 25 to 30% of your diet should be proteins. When people are asking me how to lose weight fast I always get them to look at their protein intake. Various processes and activities are going on in our bodies. Things are broken down and being built up again. Resistance has to be built up, recovery from disease too is needed and for all this the body needs plenty of proteins so see to it that 25 to 30 % of your diet consists of proteins.

33. Fats should only be 15 to 20 %. You need only this much of fat in your diet so keep it at that.

34. Try and adopt a more vegetarian diet. A vegetarian diet is undoubtedly better for those of us watching our diet. There are a lot of advantages of keeping to a vegetarian diet but I don’t want to sing an ode to vegetarianism now. What I would suggest is keep to a vegetarian diet as much as you can. Make a non- vegetarian diet a week end event or something if you find it impossible to give up eating all those animals.

35. Choose white meat rather than red. White meat, which includes fish and fowl, is miles better than red meat, which includes beef and pork for those trying to lose weight.

36. High Fiber multigrain breads are better than white breads. Remember how I told you to increase the fiber content in your food; well this is the answer to that. It is not only better in terms of the fiber content but also in terms of the protein content as well.

37. Reduce your intake of pork. Pork is not something that can help you to lose weight. The fatiness of pork is the reason for this weight loss tips. So the lesser pork you eat the better chances you have of losing weight. And remember that pork includes the pork products as well, things like bacon, ham and sausages.

38. Limit your sugar intake. If you can’t have things unsweetened go for sugar substitutes. These things are just as sweetening but are certainly not fattening.

How to Lose Weight Fast39. Graze 5 to 6 times a day. Instead of sticking to just three meals a day, try grazing. Grazing means try having 5 or 6 smaller meals instead of three king sized meals. It is an excellent way of having smaller quantities of food.

40. Go ahead eat cheat food, but only for flavor. There are many things which you have to avoid from your diet but which you may have an undying craving for. Do not avoid them altogether. You could call them cheat foods and indulge in them once in a while. But take care just to tingle your taste buds, don’t hog on them. Instead of that share them with others. In this way

41. Watch your fat intake. Each fat gram contains 9 calories so by reading the total calories on a food and knowing the quantity of fat, you can estimate the % of fat, which should in no way exceed 30% of the food.

42. Go easy on salt, as too much salt is one of the causes of obesity. Make it a point to really cut down on salt. Try to bring down your salt intake to half of what it was last year.

43. Change from table butter to cholesterol free butter. If you have a choice why not go for it, any way it is healthier for you and tastes just the same. Bear in mind that these small changes can go a long way towards weight reduction.

44. Instead of frying things try baking them without fat. Baking is by far a healthier method of preparing food than frying. Baking requires lesser oil or fat.

45. Use a non stick frying pan for your cooking so that you do not have to add oil. The golden rule is to try and avoid as much oil as possible and a non stick pan is the perfect solution to this problem.

46. Boil your vegetables instead of cooking them, or even better, eat them fresh. However if you do not like eating your vegetables as it is, try steaming them without adding anything at all. This is probably the healthiest way to eat cabbages, cauliflowers and a host of other vegetables.

47. Carry parsley with you. Parsley is an excellent thing to munch on in between meals. Not just is it good for you in terms of vitamins, but it is also a perfect way of making your breath fresher.

48. Choose low fat substitutes or no fat substitutes. how to lose weight fast by knowing what you are eating, reducing fat intakes is an important part of how to lose weight fast. There are plenty of low fat or even no fat substitutes available in the market so why not choose wisely. It is much better for you heart too. Many people just go for shopping and pick up whatever they can. They do not bother to find out if there are nay substitutes for the thing they are looking for. In the markets of today, you will be astounded at the range of goods that manufactures have to offer.

In fact with all the hue and cry that is being made about weight loss, low fat substitutes and no fat substitutes are hitting the stands faster than mushrooms that sprout after the first rains. So the next time you head for the stores instead of picking up what you have always picked up, see if there are better substitutes. Remember that our bodies need nutrients and not just calories. Fats give us nutrients but with more calories than what proteins or carbohydrates do.

49. Avoid crash diets. I know that many people are deciding that hey I can just do a crash diet and lose it quick. but not so fast. You may think this is a great way in how to lose weight fast but NO.They are bad for health and you will gain what you have lost once you take a break. Crash diets are not a solution to weight loss. It might seem as if you have lost few pounds but the moment you give up on the crash diet every thing will bounce back with a vengeance. Take a look at it in this way. Do you think that it is possible for a person to survive on a crash diet for the rest of his or her life’ Certainly not! So at some time or the other, you will have to give up the crash diet and then you will see for yourself that a crash diet does more harm than good on the long run. Crash diets may have a lot to promise, but very rarely do these promises ring true. Crash diets are things people go on in order to wear an old dress or suit for a particular occasion. That’s the only purpose that they serve as far as I can see.

How to Lose Weight Fast50. God gave us teeth for a reason... Therefore we should develop a habit of chewing all food including liquid food and soft foods like sweets, ice creams at least 8 to 12 times. This is essential to add saliva to the food, as it is only in the saliva that sugar is digested. Often we find that whatever goes into our mouth goes down like lightning. We hardly give the saliva any time to act on the food. So does digestion take place like it should’ Do we just stuff our tummies with food that doesn’t get digested or in other words that doesn’t yield the benefits that it should’

51. Dry wine is better than sweet wine. Sweet wines naturally contain a lot of sugar. But on the other hand, in dry wines most of this sugar has been fermented away so from the weight point of view dry wines are better than sweet wines.

52. When you decide it’s time to start working out, start slowly and don’t get discouraged if you don’t achieve your fitness goals after the first week. Many people make this mistake. They feel that if they really push their bodies they can lose more weight in a couple of work outs. This is a very serious thing in fact. If you try to push your body too much in the first few goes, you are likely to end up with sprained joints, a sore back and even torn ligaments. The rule to be followed here is slow and steady wins the race.

53.Check your weight before you start the routine and keep checking for changes but do not expect a radical change immediately, it might be one or two weeks before you notice some change. However it is crucial that you continue to monitor your weight. You may bear in mind the fact that even a few pounds loss is a big achievement.

54. When you do notice a change, reward yourself. When I say reward I do not mean go for some goodies like chocolates or sweets. Maybe you could go for a movie or buy yourself something like a new dress or a trinket. This is something that can keep you going. It is a good idea to save on the money that you wanted to spend on ice creams and chocolates and then treat your self to something more substantial.

Exercise how to lose weight fast tips (part-3)

2011-10-25T19:45:00.000-07:00

Exercise how to lose weight fast tips

55. You can take a day off from exercise every week. This is not just a weight loss tips but it is part of the exercise routine. Your body needs a day off from an exercise routine so do not hesitate to take a day off from what ever you have been doing.

56. Exercise out doors as far as possible. There are two advantages of doing whatever you are doing out side. One advantage is that it gives your body a chance to get a lot of the much needed fresh air and sunshine. The second advantage is that the surroundings keep you perked up and it is a break form remaining cooped up all day long

57. Try to collect some information about exercise, there are a lot of things that you can do at home. The key in knowing how to lose weight fast is to exercise and learn more about it. Extensive research has been done on exercise and plenty of this information is easily available. You can try browsing the net or getting a book or two on how to exercise at home. This information will be useful to you to know how much you need to work out on each specific exercise in order to burn off the desired number of calories.

58. Try to get somebody to exercise along with you. Having an exercise partner is a secret to success in how to lose weight fast and those people that know how to lose weight fast use to their advantage. Teach your new weight loss tips to others. But it should be somebody committed or else your interest might dwindle. This is indeed an excellent idea. One of the advantages of getting a committed person to exercise with you is that it keeps you going. There may be days when you feel just too lazy to crawl out of bed in the mornings. On such days, the knowledge that some body is waiting for you is enough to slide out of bed. Another advantage is that you can discuss your progress and fears with another person and be a sympathetic listener to the other person as well. This is a fine way of getting motivated your self.

59. Stop when your body has had enough. There is no sense in pushing it. When you have worked out for a considerable time, your body will start giving you signals. Heed those signals. This is particularly true in the initial stages. Take one step at a time. Stop when you are out of breath or when a certain part of your body tells you that it has had enough.

60. If you want to increase your time of exercise or your work out routine, do it gradually and not in sudden steps. Well easier said than done. Most of us have such hectic schedules that it is quite impossible to fit in time for exercise right? Wrong. I want to say it once and for all, your body, or anybody’s body for that matter needs proper exercise. If you make up your mind to do it, you just can.

61. Select an exercise pattern to suit your life style. All of us have different life styles and professions so there is no sense in trying to follow the book strictly. Try and follow an exercise routine that is suitable for you. You have to understand that even more important than the exercise it is sticking to it. So unless you choose something that can suit your life style, you are not going to stick on to it.

62. Don’t stand, walk. If you can walk about then do so. Do not stand in a fixed position. Pacing about is a good thing to do. If you are thinking deeply about something, try pacing about, it will aid in your thinking.

63. Don’t sit, stand. If you can stand, then do not sit. The golden rule is to choose a position that is less comfortable.

64. Don’t lie down, sit. The rule that we mentioned above rings true here as well.

65. Do not be a couch potato. It is the easiest thing in the world to become a couch potato. You know what we are talking about don’t you’ That shapeless thing that sits or reclines on a shapeless chair in front of the television and stupidly munches away at something fried! This is the easiest first way in how to lose weight fast, if you are inclined to become a promising old couch potato, break the habit, cut at the very root of the vine. And you want to know what the best way is for that’ Take away that favorite chair of yours. In fact, it would be a very good idea if you could keep a chair that isn’t too comfortable in front of the TV. This will discourage any tendency to become a couch potato and is an easy tip in how to lose weight fast.

66. If you have a sitting job, stand up and stretch yourself every half an hour. Most of the jobs today are indeed sitting jobs that are in one word sedentary. This is especially true for those who sit and punch away at the keyboard or toy with the mouse all day long. So if you have such a job, make it a point to get up at least every half an hour and stretch your self.

67. While making telephone calls try walking up and down. I hope you will agree with me that this is an excellent suggestion.

68. Use the stairs instead of the elevator whenever you can. Elevators are one hell of a convenience particularly if you have to go up or down some twenty floors. Exercise that is convenient is to me a critical how to lose weight fast practice as we do not have to take any extra time for these little bits of helpful exercise. But elevators also make us very lazy. There may be no sense in trudging up some twenty flights of stairs because by the time you get there you will be totally pooped. But while coming down, if you have the time, you can easily come down the stairs instead of using the elevator. Coming down is not at all exhausting. And talking about the time factor, I don’t think that there is much of a difference. Sometimes waiting for an elevator door to open at your floor after you hit the button can take up all of eternity.

69. Smoking is bad for weight loss. Smoking as such may not contribute to weight loss but smoking leads to other conditions like erratic eating habits and excessive dependence on things like coffee. Teach loved ones that smoke these weight loss tips and maybe they will stop too.

70. If you hate running, remember, you do not have to run a marathon to stay fit. 20 minutes of cardio each day is good enough for most.

71. And if you can’t run, try walking. 15 minutes of brisk walking a day is enough to keep most fit.

How to Lose Weight Fast

how to lose weight fast

72. Any distance is walk able if you have the time, so consider walking to places that you would normally drive (such as work or the market if they’re not too far away). It may take you longer, but the health benefits will last you a lifetime.

73. It sounds strange, but some people have reported that they lost more weight when they drank black coffee before a workout. While there’s no hard data to support this, nutritionists speculate that the caffeine in coffee makes the body rely more on fat for fuel during the work out. It’s worth trying!

74. Here’s a corollary to the tip above: Avoid drinking coffee in excess, as it tends to desensitize your body to the fat burning effects of caffeine.

75. Stop using remote controls. If you really want another way of how to lose weight fast then maybe shutting off the TV and getting out are really good but get off your butt to change the channels.

76. Do things like fetching, turning things off and on by you Often when we come back tired from work, we tend to get others to do simple chores for us. These things are no big deal. They are things that we can very well do for our selves but we don’t. That is why we often ask our kids to fetch us this or take away that. Training your pet is a wonderful thing indeed. It is quite remarkable how some people get their dogs to fetch them something. But the fact is that while you may be making sure that your dog is getting a lot of exercise, you are neglecting your bit of the story.

How to lose weight Fast – Random Tips (part-4)

2011-10-25T19:43:00.000-07:00

How to lose weight Fast – Random Tips

77. Here’s a pop quiz. Lots of how to lose weight fast tips in one place. Escalators help us to:

Move up and down faster

Gain weight

Stand stupidly as they move up and down

Look down at other people when you are going down

Look up to others when we are going up

you have to pick the correct answer from the 5 alternatives given. You can see for your self that all the options are in a way correct. So the next time you travel on an escalator, don’t just stand there…climb up or down along with it. (Or better yet, take the stairs.)

78. during commercial breaks walk about. When you are watching Biggest Loser and seeing how to lose weight fast on the ranch then try this.If you want to sit all evening with your eyes glued to the tube, then do so. But at least spare your eyes the agony of a commercial break. When the next commercial flashes on screen, instead of surfing, get up and take a walk. Reach over and try to touch your toes or do any such simple exercise that will at least get the blood flowing in your veins.

79. Wriggle your toes and your fingers whenever you can. This too is a stress buster and it gives you a chance to at least work your hand and leg joints. This will tell you how sore they are and if their condition is so bad, just think of the rest of your body.

80. Turn on music and dance like wild. Let your hair down once in a while. Go back to the days of wild childhood. Close the door of your room, turn on your sound system to the highest volume possible (but a little lower than the level at which your neighbors start to complain) and then do the wackiest dance that you can think of. Jump on your bed and jump off it again. Roll all over the floor. Pretend that you are Michael Jackson or Madonna (you will never see them keeping still) and do ever boogie move that you know.

81. Carry a soft flying disc or Frisbee with you. Toss it around and get up to fetch it. This is also an excellent way to beat stress. It makes a person feel good to throw something away forcefully when the person is all worked up. And the thing that you throw is something soft and can’t damage anything, and then what is stopping you’ It is not really the throwing part that we are interested in. It is the fetching part. Each time you get up to fetch it back; you are giving yourself a chance to stretch those muscles and joints

82. Get down at a block before your destination and walk the rest of the way. You might not have time to fit in long walks in your busy schedule so this is one way of ensuring that you at least get to walk for a little bit every day. This weight loss tips will add a few blocks a week every week and make a huge difference in your overall health. If you take the bus or the subway, get down at an earlier station and see if you can walk the rest of the way. If you drive to work, see if you can get space in a parking lot that is a little away from your office.

83. When nobody is watching try doing pelvic gyrations. This might not be how to lose weight fast but it will definitely start to tone your midsection. If you take a moment to observe it you will see that it is the mid section of our body that gets the least bit of exercise and that is probably why the signs of weight gain are mostly seen there. It is the same reason why we find it very difficult to lose weight in that section. So the best thing that you can do is consciously try to give that part a little bit of exercise. Stomach crunches might be too strenuous an exercise to start off with but gyrations are relatively mild. Pelvic gyrations make you thrust your midsection towards all directions and this is the best way of tightening every muscle in that mid section and that is of course what weight loss is all about.

84. Tuck in your tummy whenever you walk. Get that proper gait. And the best way for that is to tuck in your tummy and inflate your chest. Do not let your tummy hang above your belt line like some unruly layer of flesh. Bring it under the belt. Each time you tuck in your tummy, you will feel the pressure on the muscles of your stomach. This tightening and loosening of these muscles is even better than stomach crunches.

85. Try breathing exercises. You might be surprised to know that breathing exercises too can lead to weight loss. If you are doing the breathing exercises properly, you will find that you can exert a lot of pressure on the muscles around the mid section. You can feel a tightening of these muscles each time you breathe in or breathe out. So go ahead and breathe properly, it is good for you.

86. Try yoga. Yoga is one of the best ways of losing weight. Of course I can’t go into a full lecture about yoga over here but I can tell you that I have never seen people with better-toned bodies than those who practice yoga. One of the benefits of yoga is that you learn to control virtually every muscle and joint of your body so that the issue of weight gain will cease to exist.

87. Try massaging your partner. This is a fun way to lose weight and an opportunity to show a loved on weight loss tips. It is something that can give your partner a lot of pleasure and at the same time can give you a lot of exertion there by leading to weight loss. The attitude over here should of course be you scratch my back I will scratch yours. It should not be a one sided effort or else the interest will soon dwindle. In fact it is a good idea if couple takes up weight loss routines together. They can keep watch over each other, help control those urges to eat and motivate each other to stick to the routine. There are a lot of things that couples can do together that can help them to keep physically active.

88. If you can’t think of any thing else to do try punching your pillow. Really? How to lose weight fast in bed? Now here’s another one of those weird ideas but believe me it works. Not too many of us have punching bags at home and if you have really fluffy pillow giving it a good punching routine is just as good as anything else. This is also a nice way of letting off steam so go for it. After all something is better than nothing. But I would suggest that you do not hit it too violently or else the stuffing might come out. Do not bother too much about the force with which you hit the pillow. It is number of hits that are important. Try to get at least fifty punches in one bout.

89. Instead of waddling up and down the staircase, try taking them two at a time. Now this is something that you have to be careful about because we do not want you to trip. So when you do this make sure that your feet are well and truly planted on each step before you increase the beat and try two at a time.

90. If you have a dog, take it for a run and let the dog lead you on. You will be surprised as to how much exercise a dog can give you. Animals are sensible enough to know that they need a lot of exercise so let your animal lead you on. Take your pet dog out for as walk and before you know what hit you, it will turn out to be a run.

91. Join a dance class. Dancing is a wonderful way to burn off those extra calories. It is true. When you dance you are in fact burning away a lot of calories. Of course we are not referring to the slow ballroom kind of dances in which one person actually leans on the other one for support. We are talking about fast dances. The best way to do it is by joining a dance class because they will really wok you out. But I would suggest that you wait for a couple more pounds to vanish before you think of becoming a ballerina.

92. Whenever you can, lean against a wall with your hands flattened against the wall and in such a way that your face is very close to the wall. Then use you hands to push your body away from the wall. Do these two or three times at a stretch.

93. If there is a pool nearby go for swims as often as you can, swimming is one of the best exercises. Water has a lot of advantages. And if nothing else, a cool dip in a pool is a wonderful stress reliever.

94. Try playing something like table tennis or basket ball. Games are a fun way to lose weight. It is much more exciting to play a game than just work out by yourself. The best thing about games is that they are addictive. Once you start playing you will soon end up with a friends’ circle and then the playing goes on without even you knowing it. It is something that you can look forward to and there is no stress involved in this program. In fact the more you play the less you will consider this to be a part of your weight loss program. As you burn away those calories, you will also be able to expand your social circle.

95. Any work out should start with a 5 to 10 minute warm up and should end with a 5 to ten minute cool down session. Whatever physical exercise you are involved in, you must remember to warm up before the exercise really starts. Do not just plunge into the water and start thrashing about, to put it figuratively. Your body needs to reach a certain level of readiness before it can actually start responding to exercise. And this readiness is achieved by the warming up process.

97. While traveling in an elevator instead of just standing there and staring stupidly at the numbers going up or down, try raising your self onto your toes and then back on your feet again. Do this several times. Also try flexing your buttock muscles as well. In fact there are many muscles in our body that we can twitch and flex without inviting the attention of others.

Even if others do notice you, it’s no big deal provided you are flexing a muscle in a decent part of the body. (Most of the other parts do not have muscles any way.) Others might brand you as a health freak but it is miles better to be known as a heath freak than as a sack of potatoes.

98. Undress and stare at yourself in front of your mirror. If what you see displeases you, then you have all the more reason to work out.

Try tucking in the extra fat in all those wide areas, this will give you an idea of which part you need to be working on. Turn to you side and get a very good view of your side profile.

This is an excellent way of checking whether you have a tummy that is starting to bulge or has bulged already. Try pulling in air and then take a look at your tummy; if it has gone in even a little bit, there is hope for you. If you start now, you can control it where it is now and may be if you really set your mind to it; you can lose a couple of inches in a just a few weeks.

Weighing your self on your bathroom scales is a good idea but personally I would recommend this mirror viewing. To be very frank, a few pounds gain may shock you but does not really disgust you. But a flabby figure and extra fat certainly will.

99. If you have a banister rail or a balustrade that will support you, sit on it and pump your legs as if you are riding a bicycle, taking care not to fall off of course. This might sound like another crazy idea and I don’t want to argue with you about that. I just want to tell you that by doing such crazy things, you are in fact not missing a single chance to lose those extra pounds. It is a way of keeping your mind alert all the time. Every thing must look like an opportunity to you.

100. Do not slouch in your chair but try to maintain an erect posture with your tummy tucked in. Slouching is a very bad habit. Not only is it bad for your back but it also gives you a very flabby figure. It is your way of saying yes to a comfortable, weight-gaining pose. Make it a point to always sit as erect as you can. It is also a terrific way to ward off back problems.

101. Psst. I would like to let you in on a secret. As it is I understand that most of us tend to put on weight particularly in the mid section, right. It is the tummy that seems to have a mind of its own. Well I will tell you a sure shot method to reduce the flab around the waist line. Mind you this doesn’t hold true for post pregnancy tummies.

Scutellaria Barbata D.Don

2011-01-13T17:21:00.000-08:00

Parts used:
All plants

Benefits:
To overcome digestive tract tumors, breast cancer, cervical, lung, liver cancer, hepatitis, liver cirrhosis, appendicitis, whitish, and dysentery

Brotowali (Tinospora crispa [L.] Miers)

2011-01-08T21:53:00.000-08:00

Local name:
brotowali

Parts used:
stem

Property:
reduce heat, relieve pain (analgesic), and increase appetite, was used to diabetes, rheumatoid arthritis, and yellow fever

Zingiber Purpureum Roxb

2011-01-08T21:40:00.000-08:00

Local name:
mugle (aceh), kunyit bolai (batak)

Parts used:
rhizome

Property
fever, laxative gas (carminative), peluruh sputum, blood cleanser, and pbat worms, used for headaches due to fever, colds, stomach pains, jaundice, remati obesity, herbal remedies after giving birth, and intestinal worms

Duchesnea Indica [Andr.]

2011-01-05T18:35:00.000-08:00

Local name:
arben Leuweung, (Sunda), seladren (Java), and Sangkakcao (jakarta)

Parts used:
entire plant

Property:
eliminate heat and toxins, anti-inflammatory, antibiotics, stop bleeding, and reduce swelling. used for cancer, hepatitis, vomiting blood, coughing up blood, excessive menstrual blood, gland tuberculosis, influenza, heat cramps, dysentery, diphtheria, sore throat, sore breasts, and snake and insect bites

ziziphus jujuba mill

2011-01-05T18:24:00.000-08:00

Local name:
china dates, dates China

Parts used:
fruit

Property:
increase stamina, eliminates fatigue, weakness, lethargy, anemia, hypertension, digestive disorders, sedative for insomnia, and palpitations overcome

Nyonya Meneer tamarind powder drink

2010-12-10T17:11:00.000-08:00

Sari Asem Nyonya Meneer is beneficial to refresher and rid excess fat, to maintain a healthier and trimmer body

Nyonya Meneer herbal beverage

2010-11-07T18:14:00.000-08:00

Serbat Meneer Manis is made from selected traditional and natural ingredients, good to warm and freshen the body and relieves cold symptoms

Best Seller

Nyonya Meneer Herbs for cold symptoms)herbs for cold symptoms

2010-11-04T18:22:00.000-07:00

This jamu is eff ective for the relief of cold symptoms, such as headaches, fevers, weakness and queasiness. It is good for keeping the body healthy and fresh while working hard and travelling. (also available in pills and capsules)

Nyonya Meneer Herbs to help in weight gain

2010-11-04T18:20:00.001-07:00

For those who need to gain weight. Makes the body strong and healthy, improves the appetite and sleep, aids digestion, and keeps bowel movements regular.

Nyonya Meneer Herbs for Flu Symtomps

2010-11-03T19:12:00.000-07:00

Treatment for influenza symptoms such as sore throat, earaches, headache, watery eyes, dizziness, body aches, chills and chapped lips

Available in Jamu Super Quality-Powder Forms, weight 7 gr , Pills

Nyonya Meneer Herbs for blood circulationherbs for blood circulation

2010-11-03T19:11:00.000-07:00

Assists in regulating blood circulation. Most effective for those who lack energy, and for men and women of advanced age who constantly feel tired and have trouble sleeping.

Nyonya Meneer Herbs of energyherbs of energy

2010-11-01T19:42:00.000-07:00

For those suff ering from impaired health, various anemic symptoms, lethargy, exhaustion, and constipation. For those suff ering from impaired health, various anemic

Nyonya Meneer Herbs for renewed strengthherbs for renewed strength

2010-11-01T19:39:00.000-07:00

To overcome weakness and exhaustion, and to help those in convalescence. Increases appetite and aids digestion.To overcome weakness and exhaustion, and to help those.

Nyonya Meneer acne herbal powder

2010-05-14T19:47:00.000-07:00

A preventative and curative face powder for acne and heat rash. Very good for those recovering from chicken pox. Keeps the skin clean and smooth.

Nyonya Meneer complexion herbal powder mask

2010-05-14T19:44:00.000-07:00

Small powder balls of herbs that are mixed with water to make a mask for complexion care. Softens the skin, prevents acne, and dries up excessive oils.

Nyonya Meneer Refreshing herbal powder

2010-04-08T20:21:00.000-07:00

A face powder for adults and children that has a refreshingly cool and fragrant effect.

Nyonya Meneer herbal cream for skin care

2010-04-08T20:18:00.000-07:00

It is a traditional beauty cream for face and body care. It make your skin tight and smooth, healthy, shiny and fresh

Nyonya Meneer herbs to apply to body for skin care

2010-04-05T19:28:00.000-07:00

A very fine powder used for age by beautiful Javanese women to care for their skin. When used regularly, this traditional beauty aid both softens and tightens facial and body skin, whilst preventing and when used regularly, prevents wrinkles. It also imparts a delicate fragrance while keeping the complexion looking young, clean and attractive.

Nyonya Menner herbal face powders

2009-05-05T06:19:00.000-07:00

It’s made of selected ingredients and flowers. Effective for adults, men as well as women who have face skin trouble. Regular use of this powder makes the face skin soft, prevents and relieves acne so that the face stays fresh and clean

Nyonya Menner herbal fertility reducer

2009-05-05T06:17:00.000-07:00

A special preparation used as a contraceptive that greatly reduces a woman’s fertility

Available in jamu super quality powder and pills

Nyonya Menner herbs for children and nursing

2009-05-03T06:15:00.000-07:00

Herbal remedy for various kinds of ulcers. Trats ulcerate gums and mouth, throat ulcers, cold sores, stinging and watery eyes, earaches and thrush.

Available in jamu super quality powder

Nyonya Menner herbs post-pregnancy

2009-05-02T06:13:00.000-07:00

Should be used by women following childbirth. Regulates blood circulation, strengthens the kidney, cleanses the blood, and promotes the production of mother’s milk. It also makes the body fit and keeps the face radiant.

Available in jamu super quality powder

Nyonya Menner herbs for extra strength/preparation for delivery

2009-05-01T06:10:00.000-07:00

Women during from their sixth month of pregnancy until delivery. In addition to the remedial properties of SOROK I, this formula gives extra strength to the body to draw upon during labor and delivery of the baby.

Available in jamu super quality powder

Nyonya Menner herbs for morning sickness,fatigue

2009-04-30T06:08:00.000-07:00

Special herbs for women during their first five months of pregnancy. A most effective health aid for both the mother and the fetus. Alleviates fatigue, morning sickness, lack of appetite, and various pains.

Available in jamu super quality powder

Nyonya Mennerherbal after birth cleanser

2009-04-29T06:04:00.000-07:00

It helps to clean the blood remaining in the uterus. It strengthens the uterus and eliminates the colic. Pregnant women are not allowed to take this herbal.

Available in jamu super quality powder

Nyonya Menner herbs for regulation of menstruation

2009-04-28T06:02:00.000-07:00

Herbal remedy for women with irregular menstrual periods.

Available in jamu super quality powder and pills.

Nyonya Menner herbs for yeast infections

2009-04-27T07:28:00.000-07:00

Herbal remedy for vaginal discharge. For chronic condition, this jamu should be taken daily, while temporary sufferers should take it three times a week.

Available in pills and capsules

Nyonya Menner menstruation herbs

2009-04-26T07:43:00.001-07:00

Assists with abdominal cramps and facial pallor due to poor blood fl ow during the menstruation cycle. Th ese special herbs increase the fl ow of blood and continue to regulate it.

Available in jamu super quality powder.

Nyonya Menner herbs to promote fertility

2009-04-26T07:38:00.000-07:00

Should be taken regularly by women who have difficulty becoming pregnant. Promotes fertility however, these herbs should not be taken if menstruation occurs irregularly.

Available in jamu super quality powder and pills.

Nyonya Menner herbs to strengthen the uterus

2009-04-25T08:01:00.000-07:00

Herbs that strengthen the uterus. Should be taken by those prone to miscarriage

Also available in pills.

Nyonya Menner herbs for breast toning

2009-04-25T07:19:00.000-07:00

These herbs should be taken to firm sagging breasts to a youthful, firm shape.

Available in jamu super quality powder, pills and exstrak kapsul

Nyonya Menner acne herbs

2009-04-24T08:08:00.001-07:00

A special herbal preparation that works internally to rid the skin of acne. It keeps the skin smooth and healthy.

Available in jamu super quality powder and pills

Nyonya Menner herbs for female sex appeal

2009-04-24T07:52:00.000-07:00

For women who desire to maintain a close physical relationship with their husbands. Keep them youthful, fresh, and attractive. Especially good when taken following childbirt.

Available in jamu super quality powder, pills and exstrak kapsul

Nyonya Menner herbs for female youthfulness

2009-04-23T07:44:00.000-07:00

It retains women’s body to be always slim and firm. It also keeps the face to remain youthful. It is special for women who desire to maintain a close physical relationship with their husbands.

Available in jamu super quality powder and pills

Nyonya Menner herbs for health clear complexions

2009-04-23T07:39:00.000-07:00

A special combination of herbs to refresh the female body. Used regularly, it keeps the skin clean and healthy and beautifies the complexion. Also helps regulate menstruation and renew the bodies energy. AWET AYU herbs should be taken daily, especially following one’s menstrual period.

Available in jamu super quality powder, pills and exstrak kapsul

Nyonya Menner herbs for female femininity

2009-04-22T19:34:00.000-07:00

Prepared from selected ingredients and made especially for the woman who cares for her body and its appearance. Refreshes the body, keeping it healthy, fit and trim and gives the face a radiant look. Very effective in revitalizing the woman’s physical relationship with her husband.

Available in jamu super quality powder, pills and exstrak kapsul

Nyonya Menner herbs for health maintenance

2009-04-22T19:28:00.000-07:00

Formulated for women who want to maintain their health and fitness. These herbs are especially good for stomach and also provide for youthful vigor throughout a women’s life.

Available in jamu super quality powder and pills

Nyonya Menner herbs for skin maintenance

2009-04-15T06:53:00.000-07:00

A rejuvenating herbal mixture for women. Refreshes and beautifies the skin. To be taken regularly in the morning.

Available in jamu super quality powder, pills and exstrak kapsul

Nyonya Menner herbs for after-birth

2009-04-14T21:45:00.000-07:00

Gives special care for the mother’s body after giving birth. Strengthens the uterus, helps prevent vaginal discharge, regulates blood circulation, slims the stomach and waistline, and makes the face radiant.

Available in pills.

Nyonya Menner slim body

2009-04-13T18:57:00.000-07:00

herbs for women to maintain a slim body
For women to maintain a slim, healthy and fresh body and remain young. It’s good to take this herbs 3-4 packs a week.

available in Jamu super quality in powder- forms

Nyonya Menner Health and Beautycare

2009-04-13T18:53:00.000-07:00

herbs for young women

Especially formulated for teenage girls who have just started menstruation. Used regularly, these herbs provide the best beauty care for a young body. Keeps the body slim and the skin smooth and radiant. Also a health aid for the rapidly developing body of the young woman.

Available in jamu super quality powder and pills

Beras Kencur

2009-03-28T03:06:00.000-07:00

Help to improve stamina, eliminate stiffness and exhaustion, improve blood circulation, eliminate flatulence and warm the body.

Direction for Use:
Mix with boiled or cold water +-150ml (3/4 glass). Drink and get the efficacy and the freshness. Good for adult, teenagers and children.

Caution:
- No preservatives, artificial colors and sweeteners.
- Not recommended during pregnancy.
- Store in a cool and dry place.

Package:
One box (Contains 5 sachets).

TRADITIONAL COSMETICS INDONESIA

2008-11-27T18:41:00.000-08:00

The Natural Beauty of Woman
A Javanese woman is very much concern for her physical appearance to be always slim, beautiful with an alluring bright smiling face.

As a Javanese idiom says "Ngadi Sarira" to maintain the body to be always in perfect condition is of prime important. The way of life of a Javanese is greatly influenced by the royal culture. Not surprisingly that the art of "Keeping Beauty' is originated from the court palaces.

The Secret of a Princess Beauty
The Ladies of the Royal Families have a reputation to inherit the beauty of goddesses from paradise.

As told in the story of wayang (leather puppet) by the dalang (puppet master) , all parts of a princess body is always perfect and alluring: the beautiful black thick hair, a smooth skin, bright eyes, charming eye brows, eye lids and nose, bright reddish lips, white nicely teeth, wonderful built neck and shoulder, beautiful hands and arms, a waist like the one of a bee meanings slim and perfectly built.

The dalang with a clear deep voice, like in the poem reading adores the beauty of a princess with a thousands of words. It seems that all words of a complete dictionary are not enough to express of what a wonderful beauty a princess has.

The use of Traditional Jamu and Cosmetics
Nowadays, some secrets of this Karaton (Palaces) culture of "Ngadi Sarira" are known by many women from outside the Karaton walls. The Jamu is widely used to give an inner beauty, due to a good physical health.

Some of the products are consumed directly by eating it, for instance Kepel Fruit (a brown fruit of a chicken egg size), it's a natural deodorant. By eating it that would fragrant the odor of the body even the urine smells the fragrance of that fruit.

Jambu Mawar ( a kind of rose apple, mawar means a flower of rose) gives a fresh smell of breath. Some cosmetics are for outside application such as bedak dingin (cool powder) and lulur (scrubbing powder).

Beauty Care
Every woman is always proud of her hair – thick and shining, color and style. For natural shampooing, the ash of rice stalks work as a shampoo to clean the hair. After being washed by water, ingredients consist of
coconut milk, jeruk purut (a kind of citrus fruit smells like a lime ) and pandanus leaves are to be applied. It functions as a conditioner to clean the dandruff. The hair then washed by water again, to be dried while vaporizing with ratus fragrance.

Finally, a hair oil by the name of cemceman, made of coconut oil with pandanus , kenanga flower, jeruk purut etc. is applied.

Skin Care
For face caring, bedak dingin (cool powder) is applied. It's made from tendered rice with special ingredients, such as pandanus, kenanga flower etc.

For other parts of the body, lulur is applied, popularly known as mandi lulur (lulur bathing).

Lulur is also made from tendered rice, pandanus, some leaves of kemuning (with yellow color) and some medicinal roots. The lulur should stimulate the body to throw out the dead cells, replace it with new ones, stimulate blood circulation under the skin, smooth the skin and at the same time scents it.

Steaming the body
Steams of several boiled herbs are applied to ensure body freshness, including the woman organ. The steaming took about a ½ hour.

Producers
Besides the traditional cosmetics made by hand, in the country there are some big and well known manufactures of cosmetics, using modern machinery. These products are used widely across the country, even this cosmetics have been exported to many countries of the world.

(Suryo S. Negoro)

JAMU (TRADITIONAL HERBAL MEDICINE FROM INDONESIA)

2008-11-26T17:37:00.000-08:00

'Back to nature' is not merely a slogan in Java and Indonesia. The visible proof is the use of traditional herbal medicine of various type of 'medical plants', either from the leaves, the fruits, the roots, the flowers or the barks, etc.

These herbal medicine had been used since the ancient time up to now, it is largely consumed by people of different level; lower, middle and upper, in the villages and in the big cities.

The study of jamu had been conducted by Rumphius, a botanist as early as the year 1775 AD by publishing a book 'Herbaria Amboinesis'. A scientific research for jamu by the research center of herbal medicine in Bogor Botanical Garden, resulting a publication of a book 'Medical Book for Children and Adults', composed by E. Van Bent.

The first seminar about jamu has been held in Solo in 1940, followed by a Formation of Indonesia's Jamu Committee in 1944. In the 1966, a seminar on jamu was held again. In 1981, a book by title of 'The use of Medical Plants' was established to support the jamu industry in the country.

The method of using the jamu remains the same as the ancestors did. Some are consumed by drinking it and some are for outside application.

At present one could buy easily ready made jamu packed modernly in the form of powder, pills, capsules, drinking liquid and ointments. Of course there are still jamu shops, which sell only ingredients or prepare the jamu on spot as required by buyers. Some women are roaming the street to sell jamu, is a common view across the country.

The traditional methods of making jamu such as by boiling the prepared herbal ingredients (jamu godok) still prevail in Javanese society. The popular traditional tools of making jamu are still available in many Javanese houses such as; Lumpang (small iron Mortar), pipisan, parut (grater), kuali (clay pot), etc.

What kind of disease could jamu cure?
The reply is almost every disease, jamu could cure. There are various kinds of jamu to combat different kind of illness. In Principle there are two types of jamu; the first is jamu to maintain physical fitness and health, the locally popular are Galian Singset (to keep women body fit and slim) and Sehat Lelaki (to keep men body healthy). The second is jamu to cure various kinds of illness. Except the above, there are special jamu created with the purpose to maintain a loving family harmony. The popular products among other are Sari Rapet, which makes a women sexual organ in a good condition, as for the man the matched product is jamu Kuat Lekaki (strong man). The Javanese are also taking a great care to pregnant women during pre and postnatal period by producing the related jamu. There are also jamu for the babies.

The Herbs for Jamu
There are hundreds of herbs for jamu prescriptions, among other are:

Spices
Ginger (Zingiber Officinale)
Lempuyang (Zingiber Oronaticum)
Temu Lawak/ Wild Ginger (Curcuma Cautkeridza)
Kunyit/ Tumeric (Curcuma Domestica)
Kencur/ Greater Galingale (Kaemferi Galanga)
Lengkuas/ Ginger Plant (Elpina Galanga)
Bengle (Zingiber Bevifalium)

Leaves
Secang (Caesalpinia Sappan Hinn)
Sambang Dara (Rexco Ecaria Bicolar Hassk)
Brotowali (Tiospora Rumpii Boerl)
Adas (Foeniculum Vulgare Mill)

Fruits
Jeruk Nipis/ Calamondin (Citrae Aurantifalia Sivingle)
Ceplukan (Physalic Angulata Him)
Nyamplung (Calophylum Inaphyllu)

Barks
Kayu Manis/ Cinamon (Gijeyzahyza Glabra)

Flowers
Melati/ Yasmin (Jataninum Sunbac Ait)
Rumput Alang-alang (Gramineae)

It is worth to note that some jamu factories in Java are exporting its products. Besides the export of ready made jamu, 25 kinds of herbal plants and ingredients are also in the list of export to Europe, Australia, USA, Japan, etc.

No Side Effects
The people like to consume jamu due to :
Availability in many places
Comparatively cheap price
No side effects

HIV / AIDS Disease Information

2008-11-20T16:19:00.000-08:00

People have been warned about HIV and AIDS for over twenty years now. AIDS has already killed millions of people, millions more continue to become infected with HIV, and there's no cure – so AIDS will be around for a while yet.

AIDS is one of the biggest problems facing the world today and nobody is beyond its reach. Everyone should know the basic facts about AIDS.

What is AIDS?

AIDS (Acquired Immune Deficiency Syndrome) is a medical condition. People develop AIDS because HIV has damaged their natural defences against disease.

What is HIV?

HIV (Human Immunodeficiency Virus)
HIV is a virus. Viruses infect the cells that make up the human body and replicate (make new copies of themselves) within those cells. A virus can also damage human cells, which is one of the things that can make a person ill.

HIV can be passed from one person to another. Someone can become infected with HIV through contact with the bodily fluids of someone who already has HIV.

HIV stands for the 'Human Immunodeficiency Virus'. Someone who is diagnosed as infected with HIV is said to be 'HIV+' or 'HIV positive'.
Why is HIV dangerous?

The immune system is a group of cells and organs that protect your body by fighting disease. The human immune system usually finds and kills viruses fairly quickly.

So if the body's immune system attacks and kills viruses, what's the problem?

Different viruses attack different parts of the body - some may attack the skin, others the lungs, and so on. The common cold is caused by a virus. What makes HIV so dangerous is that it attacks the immune system itself - the very thing that would normally get rid of a virus. It particularly attacks a special type of immune system cell known as a CD4 lymphocyte.

HIV has a number of tricks that help it to evade the body's defences, including very rapid mutation. This means that once HIV has taken hold, the immune system can never fully get rid of it.

There isn't any way to tell just by looking if someone's been infected by HIV. In fact a person infected with HIV may look and feel perfectly well for many years and may not know that they are infected. But as the person's immune system weakens they become increasingly vulnerable to illnesses, many of which they would previously have fought off easily.

The only reliable way to tell whether someone has HIV is for them to take a blood test, which can detect infection from a few weeks after the virus first entered the body.

When HIV causes AIDS

A damaged immune system is not only more vulnerable to HIV, but also to the attacks of other infections. It won't always have the strength to fight off things that wouldn't have bothered it before.

As time goes by, a person who has been infected with HIV is likely to become ill more and more often until, usually several years after infection, they become ill with one of a number of particularly severe illnesses. It is at this point in the stages of HIV infection that they are said to have AIDS - when they first become seriously ill, or when the number of immune system cells left in their body drops below a particular point. Different countries have slightly different ways of defining the point at which a person is said to have AIDS rather than HIV.

AIDS is an extremely serious condition, and at this stage the body has very little defence against any sort of infection.

How long does HIV take to become AIDS?

Without drug treatment, HIV infection usually progresses to AIDS in an average of ten years. This average, though, is based on a person having a reasonable diet. Someone who is malnourished may well progress to AIDS and death more rapidly.

Antiretroviral medication can prolong the time between HIV infection and the onset of AIDS. Modern combination therapy is highly effective and, theoretically, someone with HIV can live for a long time before it becomes AIDS. These medicines, however, are not widely available in many poor countries around the world, and millions of people who cannot access medication continue to die.

How is HIV passed on?

HIV is found in the blood and the sexual fluids of an infected person, and in the breast milk of an infected woman. HIV transmission occurs when a sufficient quantity of these fluids get into someone else's bloodstream. There are various ways a person can become infected with HIV.
Ways in which you can be infected with HIV :
Unprotected sexual intercourse with an infected person Sexual intercourse without a condom is risky, because the virus, which is present in an infected person's sexual fluids, can pass directly into the body of their partner. This is true for unprotected vaginal and anal sex. Oral sex carries a lower risk, but again HIV transmission can occur here if a condom is not used - for example, if one partner has bleeding gums or an open cut, however small, in their mouth.
Contact with an infected person's blood If sufficient blood from an infected person enters someone else's body then it can pass on the virus.
From mother to child HIV can be transmitted from an infected woman to her baby during pregnancy, delivery and breastfeeding. There are special drugs that can greatly reduce the chances of this happening, but they are unavailable in much of the developing world.
Use of infected blood products Many people in the past have been infected with HIV by the use of blood transfusions and blood products which were contaminated with the virus - in hospitals, for example. In much of the world this is no longer a significant risk, as blood donations are routinely tested.
Injecting drugs People who use injected drugs are also vulnerable to HIV infection. In many parts of the world, often because it is illegal to possess them, injecting equipment or works are shared. A tiny amount of blood can transmit HIV, and can be injected directly into the bloodstream with the drugs.
It is not possible to become infected with HIV through :
sharing crockery and cutlery
insect / animal bites
touching, hugging or shaking hands
eating food prepared by someone with HIV
toilet seats

HIV facts and myths

People with HIV look just like everybody else
Around the world, there are a number of different myths about HIV and AIDS. Here are some of the more common ones :

'You would have to drink a bucket of infected saliva to become infected yourself' . . . Yuck! This is a typical myth. HIV is found in saliva, but in quantities too small to infect someone. If you drink a bucket of saliva from an HIV positive person, you won't become infected. There has been only one recorded case of HIV transmission via kissing, out of all the many millions of kisses. In this case, both partners had extremely badly bleeding gums.

'Sex with a virgin can cure HIV' . . . This myth is common in some parts of Africa, and it is totally untrue. The myth has resulted in many rapes of young girls and children by HIV+ men, who often infect their victims. Rape won't cure anything and is a serious crime all around the world.

'It only happens to gay men / black people / young people, etc' . . . This myth is false. Most people who become infected with HIV didn't think it would happen to them, and were wrong.

'HIV can pass through latex' . . . Some people have been spreading rumours that the virus is so small that it can pass through 'holes' in latex used to make condoms. This is untrue. The fact is that latex blocks HIV, as well as sperm - preventing pregnancy, too.

What does 'safe sex' mean?

Safe sex refers to sexual activities which do not involve any blood or sexual fluid from one person getting into another person's body. If two people are having safe sex then, even if one person is infected, there is no possibility of the other person becoming infected. Examples of safe sex are cuddling, mutual masturbation, 'dry' (or 'clothed') sex . . .

In many parts of the world, particularly the USA, people are taught that the best form of safe sex is no sex - also called 'sexual abstinence'. Abstinence isn't a form of sex at all - it involves avoiding all sexual activity. Usually, young people are taught that they should abstain sexually until they marry, and then remain faithful to their partner. This is a good way for someone to avoid HIV infection, as long as their husband or wife is also completely faithful and doesn't infect them.

What is 'safer sex'?

Safer sex is used to refer to a range of sexual activities that hold little risk of HIV infection.

Safer sex is often taken to mean using a condom for sexual intercourse. Using a condom makes it very hard for the virus to pass between people when they are having sexual intercourse. A condom, when used properly, acts as a physical barrier that prevents infected fluid getting into the other person's body.

Is kissing risky?

Kissing someone on the cheek, also known as social kissing, does not pose any risk of HIV transmission.

Deep or open-mouthed kissing is considered a very low risk activity for transmission of HIV. This is because HIV is present in saliva but only in very minute quantities, insufficient to lead to HIV infection alone.

There has only been one documented instance of HIV infection as a result of kissing out of all the millions of cases recorded. This was as a result of infected blood getting into the mouth of the other person during open-mouthed kissing, and in this instance both partners had seriously bleeding gums.

Can anything 'create' HIV?

No. Unprotected sex, for example, is only risky if one partner is infected with the virus. If your partner is not carrying HIV, then no type of sex or sexual activity between you is going to cause you to become infected - you can't 'create' HIV by having unprotected anal sex, for example.

You also can't become infected through masturbation. In fact nothing you do on your own is going to give you HIV - it can only be transmitted from another person who already has the virus.

Is there a cure for AIDS?
HIV medication can slow the progress of the virus

Worryingly, surveys show that many people think that there's a 'cure' for AIDS - which makes them feel safer, and perhaps take risks that they otherwise shouldn't. These people are wrong, though - there is still no cure for AIDS.

There is antiretroviral medication which slows the progression from HIV to AIDS, and which can keep some people healthy for many years. In some cases, the antiretroviral medication seems to stop working after a number of years, but in other cases people can recover from AIDS and live with HIV for a very long time. But they have to take powerful medication every day of their lives, sometimes with very unpleasant side effects.

There is still no way to cure AIDS, and at the moment the only way to remain safe is not to become infected.

Enjoying Exercise & Healthy Eating

2008-11-19T18:45:00.000-08:00

seemingly little effort? Do you wonder why it's so easy for them and such a struggle for you? One simple reason? Time. The longer a person follows a healthy lifestyle, the easier it becomes. That time and diligence offers a new, positive perspective on exercise while you may still see it as a struggle. After all, doesn't exercise mean getting up early and huffing and puffing through a killer workout? Doesn't weight loss mean giving up pizza and burgers for twigs and berries? It may look that way in the beginning but, if you stick with it, you can become one of those annoyingly healthy people and even go on to annoy others.

The Party Isn't Over

What does a healthy lifestyle look like? For some people, it looks like a lifestyle without any kind of fun. You have to slog through boring workouts. You have to start cooking your meals and you can't go out to eat anymore...what fun is that? At first, it may look like you have to give up everything in order to lose weight and get healthy. The reality is, what you gain from these changes is much more meaningful and satisfying. Not only will your body change, but your mind will change as well.

As you stay on your healthy path, you'll start to appreciate why healthy eating can be enjoyable and feel good. Why? Because of how your body responds to healthy food. That Big Mac might taste great, but imagine how it would feel to choose the healthier meal instead without feeling as though you've missed out on something. It can happen, but only if you never give up.

Here's a taste of what happens when you maintain a healthy diet:
The way your body feels after a healthy meal will become more important to you than the instant pleasure of having something loaded with fat or sugar. Healthy foods make your body happy...soon, you'll want to make your body happy more than you'll want that instant gratification.
You'll start to enjoy healthy food. Take it from the Junk Food Queen I used to be...you CAN live without chips, Cokes and Taco Bell...and you will gladly give those things up once you experience how your body feels after healthier meals.
You'll realize you can still enjoy your favorite foods. The only difference is the frequency. Now, instead of having it several times a week, you might indulge once or twice a month. Many times, you may even turn that burger down because you know it will make you feel tired rather than energized.
You will enjoy your favorite foods without guilt. The best part is this: by not indulging every time you want a treat, when you do eat it, you'll savor every single bite.
You'll start to see food as a tool for your body, rather than something that controls your life. If you exercise, you'll learn very quickly how food affects your workouts. Eating a heavy, fatty meal may make you tired and, as a result, your workouts will suffer. Soon, you'll want better workouts and you'll be more motivated to eat healthy foods.
You'll become more adventurous with food. Eating healthy often opens the door to more options than you usually give yourself. You'll try new vegetables and grains, experiment with herbs and flavors you've never tried. You'll begin to realize there are an amazing number of choices out there for healthy, tasty foods.
Your family will benefit. Even if you're the only one in your family eating healthy, those habits rub off on others. Being a good role model for your kids is one way to teach them how to live healthy when they become adults. Part of that is teaching them the right way to eat.
Your friends and co-workers will benefit. Many healthy eaters bring lunch to work. This often leads other co-workers, those who eat out, to look at their own habits. Don't be surprised if they come to you for advice on how you do it.
You'll be able to avoid temptation. Healthy eaters are much better at avoiding the usual pitfalls like party foods or overloaded buffets. Why? They learn, by practice, the different tools to staying healthy--eating regular meals so they're not starving, filling up on healthy foods first to eat less of the bad stuff, and choosing just a few quality treats to enjoy instead of everything in front of them.

These changes come over time...sometimes weeks, months or years of slowly working on your habits, choices, lifestyle and beliefs. Allowing yourself this time is crucial for permanently changing how you look at food and healthy eating.

The positive changes don't just end there...your feelings and perspective on exercise will change as well. Here's how it works.

What could possibly be good about exercise? Like healthy eating, if you keep up with your exercise program, you'll find it not only becomes easier but you'll actually have times you look forward to it. Really! As you exercise over time:
You'll start to appreciate your body. It doesn't take much time to see improvements in strength and endurance when you start exercising. As you feel that strength grow, you may get excited about your workouts...wondering how much you'll lift next time or how fast you'll walk or run.
Everything in your life will get a little easier. Carrying groceries, taking care of kids, going up and down stairs...many daily activities will get easier. You may even find you play more with your kids with your newfound energy.
Your confidence levels will grow. The more you work your body, the more your body can do and following through on your exercise goals lets you know you can trust yourself. That self-trust is a key ingredient to a healthy life.
You'll try things you never imagined. I've seen my clients go through this and it always amazes me. I had one client in her 50's who could barely lift 5-lb dumbbells. Within a few months, she was running in a 5k and toying with the idea of a triathlon. Another very shy client ended up taking a bellydancing class--something she would never would've tried before she got fit. The stronger you get, the more confidence you'll have to branch out.
You'll be inspired to change other areas of your life. This is exemplified by another client who was in his 40's and owned a barber shop. When I met him, he worked up to 16 hours a day. As he began taking the time to exercise and successfully changed those bad habits, he started looking at his other bad habits--one of them, being a workaholic. He cut his hours, hired more people and started to enjoy his family and his life.
Your health will improve. You already know exercise can help with diabetes, heart disease and high cholesterol, as well as help protect you from other illnesses and conditions.
Your sex life will improve...oo la la!
Your children will have a better chance at being healthy. As with healthy eating, being a good role model when it comes to being active gives your kids the know-how to be active themselves. Exercise with them and you get the bonus of quality time.
You will be more alert, more energetic and an annoyance to all those people in the office who are dragging towards the end of the day.

What's in store for you, if you keep trying your best, is a better life. It may not seem that way in the beginning, which is one reason many people quit before they experience these changes. Any new lifestyle change can seem overwhelming at first, but there is a secret to staying on track: take it one day at a time, one healthy choice at a time. Stay with it and you'll finally see the bright side of exercise.
By Paige Waehner, About.com

Avian influenza Disease Information

2008-11-11T18:46:00.000-08:00

How is avian influenza detected in humans?
Avian influenza cannot be diagnosed by symptoms alone, so a laboratory test is required. Avian influenza is usually diagnosed by collecting a swab from the nose or throat during the first few days of illness. This swab is then sent to a laboratory, where they will either look for avian influenza virus using a molecular test, or they will try to grow the virus. Growing avian influenza viruses should only be done in laboratories with high levels of protection. If it is late in the illness, it may be difficult to find an avian influenza virus directly using these methods. If this is the case, it may still be possible to diagnose avian influenza by looking for evidence of the body's response to the virus. This is not always an option because it requires two blood specimens (one taken during the first few days of illness and another taken some weeks later), and it can take several weeks to verify the results.

influenza to human health?
Two main risks for human health from avian influenza are 1) the risk of direct infection when the virus passes from the infected bird to humans, sometimes resulting in severe disease; and 2) the risk that the virus—if given enough opportunities—will change into a form that is highly infectious for humans and spreads easily from person to person.

How is avian influenza in humans treated?
Studies done in laboratories suggest that the prescription medicines approved for human influenza viruses should work in treating avian influenza infection in humans. However, influenza viruses can become resistant to these drugs, so these medications may not always work. Additional studies are needed to determine the effectiveness of these medicines.
Does seasonal influenza vaccine protect against avian influenza infection in people?

No. Seasonal influenza vaccine does not provide protection against avian influenza.

Should I wear a surgical mask to prevent exposure to avian influenza?
Currently, wearing a mask is not recommended for routine use (e.g., in public) for preventing influenza exposure. In the United States, disposable surgical and procedure masks have been widely used in health-care settings to prevent exposure to respiratory infections, but the masks have not been used commonly in community settings, such as schools, businesses, and public gatherings.

Can I get avian influenza from eating or preparing poultry or eggs?
You cannot get avian influenza from properly handled and cooked poultry and eggs.

There currently is no scientific evidence that people have been infected with bird flu by eating safely handled and properly cooked poultry or eggs.

Most cases of avian influenza infection in humans have resulted from direct or close contact with infected poultry or surfaces contaminated with secretions and excretions from infected birds. Even if poultry and eggs were to be contaminated with the virus, proper cooking would kill it. In fact, recent studies have shown that the cooking methods that are already recommended by the U.S. Department of Agriculture (USDA) and the Food and Drug Administration (FDA) for poultry and eggs to prevent other infections will destroy influenza viruses as well.

So to stay safe, the advice is the same for protecting against any infection from poultry:
Wash your hands with soap and warm water for at least 20 seconds before and after handling raw poultry and eggs.

Clean cutting boards and other utensils with soap and hot water to keep raw poultry from contaminating other foods.

Use a food thermometer to make sure you cook poultry to a temperature of at least 165 degrees Fahrenheit Consumers may wish to cook poultry to a higher temperature for personal preference.

Cook eggs until whites and yolks are firm.

The U.S. government carefully controls domestic and imported food products, and in 2004 issued a ban on importation of poultry from countries affected by avian influenza viruses, including the H5N1 strain. This ban still is in place.
We have a small flock of chickens. Is it safe to keep them?

Yes. In the United States there is no need at present to remove a flock of chickens because of concerns regarding avian influenza. The U.S. Department of Agriculture monitors potential infection of poultry and poultry products by avian influenza viruses and other infectious disease agents.

For additional information about avian influenza visit pandemicflu.gov.

What is the avian influenza A (H5N1) virus that has been reported in Africa, Asia, Europe, and the Near East?

Influenza A (H5N1) virus—also called "H5N1 virus"—is an influenza A virus subtype that occurs mainly in birds, is highly contagious among birds, and can be deadly to them.

Outbreaks of avian influenza H5N1 occurred among poultry in eight countries in Asia (Cambodia, China, Indonesia, Japan, Laos, South Korea, Thailand, and Vietnam) during late 2003 and early 2004. At that time, more than 100 million birds in the affected countries either died from the disease or were killed in order to try to control the outbreaks. By March 2004, the outbreak was reported to be under control.

Beginning in June 2004, however, new outbreaks of influenza H5N1 among poultry and wild birds were reported in Asia. Since that time, the virus has spread geographically. Reports of H5N1 infection in wild birds in Europe began in mid-2005. In early 2006, influenza A H5N1 infection in wild birds and poultry were reported in Africa and the Near East.

Human cases of influenza A (H5N1) infection have been reported in Azerbaijan, Cambodia, China, Djibouti, Egypt, Indonesia, Iraq, Kuwait, Lao People's Democratic Republic, Nigeria, Thailand, Turkey, and Vietnam. For the most current information about avian influenza and cumulative case numbers, see the World Health Organization Avian Influenza website.

What are the risks to humans from the current H5N1 outbreak?
H5N1 virus does not usually infect people, but more than 200 human cases have been reported. Most of these cases have occurred from direct or close contact with infected poultry or contaminated surfaces; however, a few cases of human-to-human spread of H5N1 virus have occurred.

So far, spread of H5N1 virus from person to person has been rare, limited and unsustained. Nonetheless, because all influenza viruses have the ability to change, scientists are concerned that H5N1 virus one day could be able to infect humans and spread easily from one person to another. Because these viruses do not commonly infect humans, there is little or no immune protection against them in the human population.

If H5N1 virus were to gain the capacity to spread easily from person to person, an influenza pandemic (worldwide outbreak of disease) could begin. No one can predict when a pandemic might occur. However, experts from around the world are watching the H5N1 situation in Asia and Europe very closely and are preparing for the possibility that the virus may begin to spread more easily from person to person.

How is infection with H5N1 virus in humans treated?
Most H5N1 viruses that have caused human illness and death appear to be resistant to amantadine and rimantadine, two antiviral medications commonly used for treatment of patients with influenza. Two other antiviral medications, oseltamivir and zanamavir, would probably work to treat influenza caused by H5N1 virus, but additional studies are needed to demonstrate their current and ongoing effectiveness.

Is there a vaccine to protect people from some strains of the H5N1 virus?
Yes. On April 17, 2007, the U.S. Food and Drug Administration (FDA) announced its approval of the first vaccine to prevent human infection with one strain of the avian influenza (bird flu) H5N1 virus. The vaccine, produced by sanofi pasteur, Inc., has been purchased by the federal government for the U.S. Strategic National Stockpile; it will be distributed by public-health officials if needed. This vaccine will not be made commercially available to the general public. Other H5N1 vaccines are being developed by other companies against different H5N1 strains. For more information about the sanofi pasteur, Inc. vaccine, visit http://www.fda.gov/bbs/topics/NEWS/2007/NEW01611.html. For information about other H5N1 and pandemic flu vaccine research activities visit http://www.pandemicflu.gov/research/index.html#vresearch.

What is the benefit of the FDA-approved H5N1 vaccine produced by sanofi pasteur Inc?
The H5N1 vaccine approved by the U.S. Food and Drug Administration (FDA) on April 17, 2007, was developed as a safeguard against the possible emergence of an H5N1 pandemic virus. However, since the H5N1 virus is not a pandemic virus since it does not transmit efficiently from person to person, the H5N1 vaccine is being held in stockpiles rather than being used by the general public . This vaccine aids H5N1 preparedness efforts in case an H5N1 pandemic virus were to emerge.

What does CDC recommend regarding H5N1 virus?
In February 2004, CDC provided U.S. public health departments with recommendations for enhanced surveillance ("detection") of H5N1 influenza in the country. Follow-up messages, distributed via the Health Alert Network, were sent to the health departments on August 12, 2004, February 4, 2005, and June 7, 2006; all three notices reminded public health departments about recommendations for detecting (domestic surveillance), diagnosing, and preventing the spread of H5N1 virus. The notices also recommended measures for laboratory testing for H5N1 virus.

Does CDC recommend travel restrictions to areas with known H5N1 outbreaks?
CDC does not recommend any travel restrictions to affected countries at this time. However, CDC currently advises that travelers to countries with known outbreaks of H5N1 influenza avoid poultry farms, contact with animals in live food markets, and any surfaces that appear to be contaminated with feces from poultry or other animals.

Is there a risk in handling feather products that come from countries experiencing outbreaks of avian influenza A (H5N1)?
The U.S. government has determined that there is a risk to handling feather products from countries experiencing outbreaks of H5N1 influenza.

There is currently a ban on the importation of birds and bird products from H5N1-affected countries in Africa, Asia, and Europe. The regulation states that no person may import or attempt to import any birds (Class Aves), whether dead or alive, or any products derived from birds (including hatching eggs), from the specied countries. This prohibition does not apply to any person who imports or attempts to import products derived from birds if, as determined by federal officials, such products have been properly processed to render them noninfectious so that they pose no risk of transmitting or carrying H5Nl and which comply with the U.S. Department of Agriculture (USDA) requirements. Therefore, feathers from these countries are banned unless they have been processed to render them noninfectious. Additional information about the import ban is available on the USDA website

Is there a risk to importing pet birds that come from countries experiencing outbreaks of avian influenza A (H5N1)?
The U.S. government has determined that there is a risk to importing pet birds from countries experiencing outbreaks of H5N1 influenza. CDC and USDA have both taken action to ban the importation of birds from areas where H5N1 has been documented. There is currently a ban on the importation of birds and bird products from H5N1-affected countries in Africa, Asia, and Europe. The regulation states that no person may import or attempt to import any birds (Class Aves), whether dead or alive, or any products derived from birds (including hatching eggs), from the specified countries (see Embargo of Birds from Specified Countries).

Can a person become infected with avian influenza A (H5N1) virus by cleaning a bird feeder?
There is no evidence of H5N1 having caused disease in birds or people in the United States. At the present time, there is no risk of becoming infected with H5N1 virus from bird feeders. Generally, perching birds (Passeriformes) are the predominate type of birds at feeders. While there are documented cases of H5N1 causing death in some Passeriformes (e.g., house sparrow, Eurasian tree-sparrow, house finch), in both free-ranging and experimental settings, none occurred in the U.S. and most of the wild birds that are traditionally associated with avian influenza viruses are waterfowl and shore birds.

What changes are needed for H5N1 or another avian influenza virus to cause a pandemic?
Three conditions must be met for a pandemic to start: 1) a new influenza virus subtype must emerge for which there is little or no human immunity; 2) it must infect humans and causes illness; and 3) it must spread easily and sustainably (continue without interruption) among humans. The H5N1 virus in Asia and Europe meets the first two conditions: it is a new virus for humans (H5N1 viruses have never circulated widely among people), and it has infected more than 190 humans, killing over half of them.

However, the third condition, the establishment of efficient and sustained human-to-human transmission of the virus, has not occurred. For this to take place, the H5N1 virus would need to improve its transmissibility among humans. This could occur either by "reassortment" or adaptive mutation.

Reassortment occurs when genetic material is exchanged between human and avian viruses during co-infection (infection with both viruses at the same time) of a human or another mammal. The result could be a fully transmissible pandemic virus—that is, a virus that can spread easily and directly between humans. A more gradual process is adaptive mutation,
where the capability of a virus to bind to human cells increases during infections of humans.

What is CDC doing to prepare for a possible H5N1 influenza pandemic?
CDC is taking part in a number of pandemic prevention and preparedness activities, including the following:
Providing leadership to the National Pandemic Influenza Preparedness and Response Task Force, created in May 2005 by the Secretary of the U.S. Department of Health and Human Services.
Working with the Association of Public Health Laboratories on training workshops for state laboratories on the use of special laboratory (molecular) techniques to identify H5 viruses.
Working with the Council of State and Territorial Epidemiologists and others to help states with their pandemic planning efforts.
Working with other agencies, such as the Department of Defense and the Veterans Administration, on antiviral stockpile issues.
Working with the World Health Organization (WHO) to investigate influenza H5N1 among people (e.g., in Vietnam) and to provide help in laboratory diagnostics and training to local authorities.
Performing laboratory testing of H5N1 viruses.
Starting a $5.5 million initiative to improve influenza surveillance in Asia.

Holding or taking part in training sessions to improve local capacities to conduct surveillance for possible human cases of H5N1 and to detect influenza A H5 viruses by using laboratory techniques.

Developing and distributing reagent kits to detect the currently circulating influenza A H5N1 viruses.

CDC has developed and is distributing the first FDA approved test for the detection of the H5 viruses that first emerged in Asia in 2003.

CDC also is working closely with WHO and the National Institutes of Health on safety testing of vaccine candidates and development of additional vaccine virus seed candidates for influenza A (H5N1) and other subtypes of influenza A viruses.

What animals can be infected with avian influenza A (H5N1) viruses?
In addition to humans and birds, we know that pigs, tigers, leopards, ferrets, and domestic cats can be infected with avian influenza A (H5N1) viruses. In addition, in early March 2006, Germany reported H5N1 infection in a stone marten (a weasel-like mammal). The avian influenza A (H5N1) virus that emerged in Asia in 2003 is evolving and it's possible that other mammals may be susceptible to infection as well. CDC is working closely with domestic and international partners to continually monitor this situation and will provide additional information to the public as it becomes available.

Can domestic cats be infected with avian influenza viruses?
While domestic cats are not usually susceptible to influenza type A infection, it is known that they can become infected and die (both experimentally and naturally) with avian influenza A (H5N1) viruses and, in a laboratory/research setting can spread the virus to other cats. It is not known whether domestic cats can spread the virus to other domestic cats under natural conditions.

How do cats become infected with avian influenza A (H5N1) viruses?
All of the cases of influenza A (H5N1) infection in domestic cats reported to date have been associated with H5N1 outbreaks among domestic poultry or wild birds and are thought to have occurred by the cat eating raw infected birds.

How commonly have cats been infected with avian influenza A (H5N1) viruses?
During the avian influenza A (H5N1) outbreak that occurred from 2003 to 2004 in Asia, there were only several unofficial reports of fatal infections in domestic cats. Studies carried out in the Netherlands and published in 2004 showed that housecats could be infected with avian influenza A (H5N1) and could spread the virus to other housecats. In these experiments, the cats became sick after direct inoculation of virus isolated from a fatal human case, and following the feeding of infected raw chicken. In February 2006, Germany reported that a domestic cat had died from influenza A (H5N1) infection. That cat lived in the northern island of Ruegen, where more than 100 wild birds are believed to have died of the disease. The cat probably got sick by eating an infected bird.

What about infection in large cats, like tigers?
Large cats kept in captivity have been diagnosed with avian influenza as well. In December 2003, two tigers and two leopards that were fed fresh chicken carcasses from a local slaughterhouse died at a zoo in Thailand. An investigation identified avian influenza A (H5N1) in tissue samples. In February and March 2004, the virus was detected in a clouded leopard and white tiger, respectively, both of which died in a zoo near Bangkok . In October 2004, 147 of 441 captive tigers in a zoo in Thailand died or were euthanatized as a result of infection after being fed fresh chicken carcasses. The cats are thought to have gotten sick from eating infected raw meat. Results of a subsequent investigation suggested that at least some tiger-to-tiger transmission occurred in that facility.

Can cats spread H5N1 to people?
There is no evidence to date that cats can spread H5N1 to humans. No cases of avian influenza in humans have been linked to exposure to sick cats, and no outbreaks among populations of cats have been reported. All of the influenza A (H5N1) infections in cats reported to date appear to have been associated with outbreaks in domestic or wild birds and acquired through ingestion of raw meat from an infected bird.

What is the risk to humans or other species from cats infected with avian influenza H5N1 virus?
There is no evidence to date that cats can spread H5N1 to humans. No cases of avian influenza in humans have been linked to exposure to sick cats, and no outbreaks among populations of cats have been reported. All of the influenza A (H5N1) infections in cats reported to date appear to have been associated with outbreaks in domestic or wild birds and acquired through ingestion of raw infected meat.

What is the current risk that a cat in the United States will become infected with influenza A (H5N1)?
As long as there is no influenza A (H5N1) in the United States, there is no risk of a U.S. cat becoming infected with this disease. The virus circulating in Asia, Europe and Africa has not yet entered the United States. CDC is working closely with domestic and international partners to continually monitor this situation and will provide additional information to the public as it becomes available.

If avian influenza A (H5N1) is identified in the United States, how can I protect my cat?
As long as there is no H5N1 influenza in the United States, at this time there is no risk of a U.S. cat becoming infected with this disease. In Europe, however, where H5N1 has been reported in wild birds, poultry, several cats, and a stone marten (a member of the weasel family), the European Center for Disease Prevention and Control has issued preliminary recommendations for cat owners living in H5N1-affected areas. Additionally, the Food and Agriculture Organization has produced guidance for areas where H5N1 HPAI has been diagnosed or is suspected in poultry or wild birds.

Cans dogs be infected with avian influenza?
While dogs are not usually susceptible to avian influenza viruses, the avian influenza A (H5N1) virus that emerged in Asia in 2003 has been documented to infect other carnivore species (e.g. cats, tigers, leopards, stone martens). This has raised concern that this strain of avian influenza A (H5N1) virus may be capable of infecting dogs. An unpublished study carried out in 2005 by the National Institute of Animal Health in Bangkok indicated that dogs could be infected with the virus, but no associated disease was detected. This limited information is not enough to determine definitively whether dogs are susceptible to the virus. CDC is coordinating with USDA, veterinary associations, and other partners domestically and internationally on this issue and will provide additional information to the public as it becomes available.

How would dogs be infected with avian influenza A (H5N1)?
There is not enough information available about avian influenza A (H5N1) infection in dogs to know how infection would occur. Affected domestic cats in Europe appear to have become infected by feeding upon raw infected poultry or wild birds. If dogs are susceptible to avian influenza A (H5N1), infection may be by the same route.

What is the current risk that a dog in the United States will become infected with avian influenza A (H5N1)?

As long as there is no influenza A (H5N1) in the United States, there is no risk of a U.S. dog becoming infected with this disease. The virus circulating in Asia, Europe and Africa has not yet entered the United States. CDC is working closely with domestic and international partners to continually monitor this situation and will provide additional information to the public as it becomes available.

Source: U.S. Centers for Disease Control and Prevention

Ten tips for healthy and fast meal planning

2008-11-08T18:04:00.000-08:00

Samara Felesky-Hunt, For the Calgary Herald

Time is the biggest factor when it comes to cooking healthy meals--and for most of us, time is increasingly short supply.

It's a tough task to eat healthy meals when there's just no time to organize and prepare food-- especially when we're dealing with family members who have all kinds of different meal preferences.

There are, however, tips and tricks you can use to put healthy dinner meals on the table that you and your family will enjoy--without taking up too much of your ever-decreasing time.

Here are 10 ways to put healthy meals into action.

1. Plan, plan and plan. Today, a little planning goes a long way to ease the stress on meal preparation. There is nothing worse than walking in the door at 5 p. m. and staring at the cupboards, wondering what to prepare for dinner.

On the other hand, it's a great feeling to walk in the door, knowing the chicken is marinating and ready to grill, the vegetables are cut up and the potatoes are ready to be baked. Be sure to plan at least four days of menus before you go grocery shopping.

2. Visit "Let's make a meal" at dieitiansofcanada.ca.You can create your own menu from the ideas given for each meal on this very handy website. The tips and information show how different meal choices compare to Canada's Food Guide for your age and sex. The site also provides shopping tips, a full pantry list, simple and easy recipes, and tools for easy menu planning. 3. Use five-minute windows of time to make big headway on making meals. Prepare meat and fish before dinner: Meat can sit in an oil-based marinade for about 24 hours in the refrigerator. Fish should sit for no more than four to six hours.

Chop vegetables when you have a chance in the morning. Just cover them with a damp paper towel to keep them crisp in the refrigerator.

4. Plan for no-cook dinners or simple dinners on busier nights. Try dinner salads using grilled chicken and fish, or make up an antipasto plate and serve with a lentil soup. You can make a veggie omelette, or spinach frittata in no time.

5. Once a week, incorporate a one-pot dinner into your menu plan. Use your slow cooker. Time is at a premium, so take advantage of the complete meal in one pot. Save time cooking, satisfy a crowd and make cleanup super easy.

6. Plan for a kitchen-sink night. Make dinner from practically nothing. You will be amazed with the meals you can come up with using only 10 or fewer ingredients--and it's a great way to use up what is in your refrigerator before you go grocery shopping again. Quesadilla, pizza, ethnic recipes and Mexican dishes are great for nights like these.

7. Build a better breakfast each morning. Make breakfast a larger meal to fill your family for the day, so they are less hungry at the dinner hour.

Add a banana berry protein shake to a bowl of steel-cut oats, for example. Make the shake the night before and make oatmeal two to three days ahead of time. Warm oatmeal each day, top with honey, wheat germ and dried fruit, and serve with milk.

If everyone is in a hurry, choose the shake to go and make up scrambled eggs rolled in a whole wheat tortilla to be eaten on the run.
8. Be sure also to incorporate "planned overs"as a part of your weekly menu. Get the most out of your time by cooking more food than you need.When it comes to last night's vegetables and grains, they will do just fine to complement tonight's dinner. If you are making a stew, a hearty soup or chili, double the recipe and freeze the second batch for another day.

9. Organize snacks for cars, offices, purses, knapsacks and/or briefcases. Planned snacks will keep appetites in check for the dinner hour. Keep dried fruit bars, nut bars, trail mix, and vegetable juices handy for when family members need an energy snack. An airtight container on the kitchen counter can be stocked full of a mixture of favourite dried cereals, chopped mixed fruits and assorted unsalted nuts, topped with cinnamon and coconut.

10. Be on the recipe watch for quick, easy and delicious recipes. Check cookbooks such as Simply Great Food or Great Food Fast, both from Dietitians of Canada. Look on the web at realsimple.com,cookinglight.com,or canadianliving.cafor seasonal menu ideas. SAMARA FELESKY-HUNT IS A REGISTERED DIETITIAN AT THE DOWNTOWN SPORTS CLINICS IN CALGARY. HER COLUMN APPEARS WEEKLY IN THE HERALD. SHE CAN BE REACHED AT DIETITIAN-ONLINE.COM.

Good Foods That Affact The Complexion

2008-11-03T20:38:00.001-08:00

Written by Maraz S.

a Grain and Cereal

A grain and cereal such as the brown rice ,oat , corn , soybean ,mung bean , black bean , sesame, has the high vitamin B. Besides, it has the vitamin E that is Antioxidants helping to build and heal the strength of the cell , there is a research that specifies the vitamin E help to enhance the moisture to the skin , and help to protect the damage from the contamination to the skin.

Fresh Water

the water is function of every system within the body. if the body receives not enough water, complexion will not bright. Drinking 6 to 8 glasses of water a day that make skin bright because the water will help to heal the flexibility of the muscle and also protect flabby skin from plumply losing weight as well.

Fish

Fish is a good protein source that is the nutrient helping to reinforce and repair the cell in the body deteriorated, and have Selenium that is a Antioxidant helping slow down oldness and the decline in the body

the Fruit and the Fresh Vegetables

fresh vegetables has vitamin A that help to make skin to not dry and bright always, and also has vitamin C that importantly participate to build fiber , collagen which be part that make face complexion to sees firm and be flexible. So the freash vegetables and the fruit should be the food that you should pack in a menu every meal. The fruit that has a large amount of vitamin C, for example, orange , lemon , pineapple, tomato and guava as for vegetables and fruit that have a large amount of vitamin A , for example, banana , papaya , pumpkin and carrot.

Olive Oil

olive oil is a oil from the plant, although it has a high calorie but there is a merit that has fatty acid that high benefit to the body , and first-class fat that be formed control cholesterol level in the blood. Specially in olive oil compose the vitamin A and E that is Antioxidants helping protect deterioration of the cell to makes the skin to sees young, moisture and soft.

Eating Healthy to Avoid The Stress

2008-11-03T20:35:00.000-08:00

Written by Maraz S.

Hard working may cause you to get stressed. When strain occur, most people often eat poor food that will really raise stress and cause other troubles. Follow simple tips below help you get healthy and avoid stress.

Eat breakfast without exception
you should eat breakfast, although you may feel you're not hungry. Passing over breakfast makes body harder to keep the sugar levels and proper blood all day, therefore you should always eat something.

Healthy lunch
Even though many people would like to eat fast food for lunch, you can actually eat healthier and also save a lot of money if you take a couple of minutes and bring a lunch from home. you will feel much better than eating out, although you do this just a few times a week.

Keeping a snack
Carrying some protein-rich snacks in your bag, office, or car will help you keep away from the tiredness, the accompanying humor swings and blood sugar level. Energy bars, granola bars and trail mix, granola bars all have the nutrients that you need.

Healthy light meal
If you are stressed and like to eat munch, you should choose healthy munchies such as sunflower seeds, celery sticks or even carrot sticks instead of chips or other non healthy munchies.

Get the good food in your home
The Important thing that you should do, is to get the good food in your home, and get the bad food out. The good way to do that is to design a healthy menu for meals at the opening of the week, list the ingedients that will be used in your healthy menu, then go to buy it.

Eating For A Good Healthy Heart

2008-11-03T20:06:00.000-08:00

Written by Maraz S.

High-risk cholesterol or a terrible diet is something we all experience at sometime. In our whole lives, It's impossible to eat healthy, even though we may attempt doing that. Eating healthy is something everybody should try to do in order to restoring health and cutting down the risk of heart attacks.

Eating for Your Heart

Everyone know certainly that a diet richly fats in will help increase your cholesterol, which is a risk factor for heart disease. People who are obese are more risk to heart disease. A high sodium diet may raise your blood pressure that cause bringing about to inflammation and even heart disease.

Tips for preventing heart disease and improving your health

Plenty of fiber

Fiber, found in whole grain products, will helps you to control your cholesterol and control sugar absorption that helps you keep your digestive system healthy as well.

Eat plenty of fish

Salmon, sardines and herring are entire superior sources of omega-3 fatty acids that may help to get your cholesterol down to a more good health level and other fish are great too.

Choosing carbohydrates

Stay away from sugary foods such as cakes cookies, pastries, and candy. Eating a large amount of sugar isn't good for your heart at all. Healthy carbohydrates involve brown rice, a lot of vegetables, whole gain pasta, and whole grain breads. The main aspect of yout diet should be vegetables and fruits for your health.

Choosing good oils and fats for health

Saturated fat, found in butter, meat, and even copra oil, will raise the risk of heart disease. You should keep away from them until you're at a healthy weight and your cholesterol levels are reduced. Even those that love red meats can enjoy seafood and nuts for their main sources of protein.

To protect your heart, Monounsaturated fats such as olive oils will help you. Olive oil is an perfect selection for cooking, dressing, or even as a dipping sauce.

Healthy cooking methods

Stir sauteing and frying with canola oil or olive oil are both excellent methods, as you shouldn't fly your food with batter anymore. If you cook chicken, remove the skin and bake it in the oven in foil.

If you cook fish, you should always bake it Instead of frying. Steaming your vegetables can help keep the most nutrients. You should use cream sauces or lots of butter anymore either. When you eat veggies, try squeezing orange juice on them or your favorite seasonings.

Begin to follow these guidelines as you make the suitable changes to your diet. Although it takes time for them to become habits, eating healthy is always great for your body and your health, especially for your heart and preventing the risk of heart disease.

Good Tips to Weight Loss

2008-11-02T18:15:00.000-08:00

Many suffer from being overweight and obese. Overweight is caused due to intake of calories more than required by a person. Individuals who do less work or work that requires less physical strains and consume lot of junk foods (especially those rich in fats) are prone to become obese and overweight.

Overweight leads to lot of complications. It may cause hyper tension, diabetes, respiratory problems, cancer etc. Hence one as to follow a strict procedure for losing weight to lead a healthy life.
Motivation & Goal

Before one starts to adopt to any of the weight loss methods one needs to have a motivation to lose weight. If you have the strong motivation you could achieve it. One should also frame a goal like how much weight to reduce.
Dieting

Dieting plays an important role in losing weight. Consume healthy and nutritious foods which include green vegetables and fruits. Avoid foods rich in fats, oily foods, ice cream and junk foods. Dieting does not mean you should starve without eating any food.
Weight Loss Program

There are various weight loss programs that help to lose weight. Individuals could consult a weight loss expert and follow a proven weight loss program that would be suitable for their health condition.
Regular Exercise

Regular Exercise (Aerobics) is a must for losing weight. It helps to burn the excess fat in our body. Involving in physical activities or sports will prove to be effective in losing weight.
Weight Loss Products

Weight Loss Supplements or Drugs should be taken only after consulting a Doctor. It may not be applicable to everyone. It is intended for individuals who are not able to lose weight by dieting and exercise. For some the Doctor may prescribe weight loss pills along with regular exercise and dieting.

Simple Beauty Tips

2008-11-02T18:10:00.000-08:00

Listed below are some of the tips for beauty care which could be done at your home. Why spend on cosmetics when you could try it cheaper!
Apply some fresh milk on your face (unboiled) with a help of cotton. Clean it after few minutes. This would clear the dirt from your face. Your face should look sheen.
Mix 2 tbspn of orange juice along with 2 tbpsn of curd and then apply it on your face. Leave it for few minutes and then wash your face.
Take 2 carrots and boil it. Squeeze the carrot and mix 1/2 spoon of honey and then apply it on your face which would make your face glossy.
To get rid of the wrinkles on your skin take some pomegranate’s seed and mix it with 2 tbspn of butter. Apply the paste on your skin for 10 to 15 minutes. If you follow this process daily. You should see an improvement in few weeks.
Mix 1 tbspn of pomegranate juice along with 1 tbspn of sandal powder. Apply this paste on your face and leave it for few minutes which would help to bring the glow to your face.
Mix some Red Sandalwood powder along with rose water. Mix it thoroughly and then apply it on your face. Wash your face after 15 minutes. This will help you get rid of acne, blackheads and prickly heat.
Mix 2 tbspn each of olive oil, castor oil and almond oil. Apply it in your hair (from root to tip of your hair). Leave it for half an hour and the wash it with a shampoo. This would strengthen your hair and prevent hair fall.
To eliminate dark circles around your eyes use cucumber or potato cut in round piece and place it on your eyes.
Apply tomato juice on your face. Leave it to dry for fifteen minutes and then wash your face. It should bring a glitter to your face.
It is common to see our skin turn to dry during winter season. To avoid this you can use an apple. Grind the apple into a thick paste (not juice). Apply it in your hand, face and other parts of body.
Apply coconut water in your face with the help of cotton. This will eliminate the dirt on your face and make you feel free from oily face.

10 Essential Health Tips

2008-11-02T00:52:00.000-07:00

1. Move More
Make it a daily challenge to find ways to move your body. Climb stairs if given a choice between that and escalators or elevators. Walk your dog; chase your kids; toss balls with friends, mow the lawn. Anything that moves your limbs is not only a fitness tool, it's a stress buster. Think 'move' in small increments of time. It doesn't have to be an hour in the gym or a 45-minute aerobic dance class or tai chi or kickboxing. But that's great when you're up to it. Meanwhile, move more. Thought for the day: Cha, Cha, Cha…. Then do it!

2. Cut Fat
Avoid the obvious such as fried foods, burgers and other fatty meats (i.e. pork, bacon, ham, salami, ribs and sausage). Dairy products such as cheese, cottage cheese, milk and cream should be eaten in low fat versions. Nuts and sandwich meats, mayonnaise, margarine, butter and sauces should be eaten in limited amounts. Most are available in lower fat versions such as substitute butter, fat free cheeses and mayonnaise. Thought for the day: Lean, mean, fat-burning machine…. Then be one!

3. Quit Smoking
The jury is definitely in on this verdict. Ever since 1960 when the Surgeon General announced that smoking was harmful to your health, Americans have been reducing their use of tobacco products that kill. Just recently, we've seen a surge in smoking in adolescents and teens. Could it be the Hollywood influence? It seems the stars in every movie of late smoke cigarettes. Beware. Warn your children of the false romance or 'tough guy' stance of Hollywood smokers. Thought for the day: Give up just one cigarette…. the next one.

4. Reduce Stress
Easier said than done, stress busters come in many forms. Some techniques recommended by experts are to think positive thoughts. Spend 30 minutes a day doing something you like. (i.e.,Soak in a hot tub; walk on the beach or in a park; read a good book; visit a friend; play with your dog; listen to soothing music; watch a funny movie. Get a massage, a facial or a haircut. Meditate. Count to ten before losing your temper or getting aggravated. Avoid difficult people when possible. Thought for the day: When seeing red, think pink clouds….then float on them.

5. Protect Yourself from Pollution
If you can't live in a smog-free environment, at least avoid smoke-filled rooms, high traffic areas, breathing in highway fumes and exercising near busy thoroughfares. Exercise outside when the smog rating is low. Exercise indoors in air conditioning when air quality is good. Plant lots of shrubbery in your yard. It's a good pollution and dirt from the street deterrent. Thought for the day: 'Smoke gets in your eyes'…and your mouth, and your nose and your lungs as do pollutants….hum the tune daily.

6. Wear Your Seat Belt
Statistics show that seat belts add to longevity and help alleviate potential injuries in car crashes. Thought for the day: Buckle down and buckle up.

7. Floss Your Teeth
Recent studies make a direct connection between longevity and teeth flossing. Nobody knows exactly why. Perhaps it's because people who floss tend to be more health conscious than people who don't? Thought for the day: Floss and be your body's boss.

8. Avoid Excessive Drinking
While recent studies show a glass of wine or one drink a day (two for men) can help protect against heart disease, more than that can cause other health problems such as liver and kidney disease and cancer. Thought for the day: A jug of wine should last a long time.

9. Keep a Positive Mental Outlook
There's a definitive connection between living well and healthfully and having a cheerful outlook on life. Thought for the day: You can't be unhappy when you're smiling or singing.

10. Choose Your Parents Well
The link between genetics and health is a powerful one. But just because one or both of your parents died young in ill health doesn't mean you cannot counteract the genetic pool handed you. Thought for the day: Follow these basic tips for healthy living and you can better control your own destiny.

Anxiety Disease Information

2008-08-21T19:06:00.000-07:00

Anxiety disorders range from feelings of uneasiness to immobilizing bouts of terror. This fact sheet briefly describes the different types of anxiety disorders. This fact sheet is not exhaustive, nor does it include the full range of symptoms and treatments. Keep in mind that new research can yield rapid and dramatic changes in our understanding of and approaches to mental disorders. If you believe you or a loved one has an anxiety disorder, seek competent, professional advice or another form of support.

Generalized Anxiety Disorder: Most people experience anxiety at some point in their lives and some nervousness in anticipation of a real situation. However if a person cannot shake unwarranted worries, or if the feelings are jarring to the point of avoiding everyday activities, he or she most likely has an anxiety disorder.
Symptoms: Chronic, exaggerated worry, tension, and irritability that appear to have no cause or are more intense than the situation warrants. Physical signs, such as restlessness, trouble falling or staying asleep, headaches, trembling, twitching, muscle tension, or sweating, often accompany these psychological symptoms.
Formal diagnosis: When someone spends at least six months worried excessively about everyday problems. However, incapacitating or troublesome symptoms warranting treatment may exist for shorter periods of time.
Treatment: Anxiety is among the most common, most treatable mental disorders. Effective treatments include cognitive behavioral therapy, relaxation techniques, and biofeedback to control muscle tension. Medication, most commonly anti-anxiety drugs, such as benzodiazepine and its derivatives, also may be required in some cases. Some commonly prescribed anti-anxiety medications are diazepam, alprazolam, and lorazepam. The non-benzodiazepine anti-anxiety medication buspirone can be helpful for some individuals.

Panic Disorder: People with panic disorder experience white-knuckled, heart-pounding terror that strikes suddenly and without warning. Since they cannot predict when a panic attack will seize them, many people live in persistent worry that another one could overcome them at any moment.
Symptoms: Pounding heart, chest pains, lightheadedness or dizziness, nausea, shortness of breath, shaking or trembling, choking, fear of dying, sweating, feelings of unreality, numbness or tingling, hot flashes or chills, and a feeling of going out of control or going crazy.
Formal Diagnosis: Either four attacks within four weeks or one or more attacks followed by at least a month of persistent fear of having another attack. A minimum of four of the symptoms listed above developed during at least one of the attacks. Most panic attacks last only a few minutes, but they occasionally go on for ten minutes, and, in rare cases, have been known to last for as long as an hour. They can occur at any time, even during sleep.
Treatment: Cognitive behavioral therapy and medications such as high-potency anti-anxiety drugs like alprazolam. Several classes of antidepressants (such as paroxetine, one of the newer selective serotonin reuptake inhibitors) and the older tricyclics and monoamine oxidase inhibitors (MAO inhibitors) are considered "gold standards" for treating panic disorder. Sometimes a combination of therapy and medication is the most effective approach to helping people manage their symptoms. Proper treatment helps 70 to 90 percent of people with panic disorder, usually within six to eight weeks.

Phobias: Most of us steer clear of certain, hazardous things. Phobias however, are irrational fears that lead people to altogether avoid specific things or situations that trigger intense anxiety. Phobias occur in several forms, for example, agoraphobia is the fear of being in any situation that might trigger a panic attack and from which escape might be difficult. Social phobia is a fear of being extremely embarrassed in front of other people. The most common social phobia is fear of public speaking.
Symptoms: Many of the physical symptoms that accompany panic attacks - such as sweating, racing heart, and trembling - also occur with phobias.
Formal Diagnosis: The person experiences extreme anxiety with exposure to the object or situation; recognizes that his or her fear is excessive or unreasonable; and finds that normal routines, social activities, or relationships are significantly impaired as a result of these fears.
Treatment: Cognitive behavioral therapy has the best track record for helping people overcome most phobic disorders. The goals of this therapy are to desensitize a person to feared situations or to teach a person how to recognize, relax, and cope with anxious thoughts and feelings. Medications, such as anti-anxiety agents or antidepressants, can also help relieve symptoms. Sometimes therapy and medication are combined to treat phobias.

Post-traumatic Stress Disorder: Researchers now know that anyone, even children, can develop PTSD if they have experienced, witnessed, or participated in a traumatic occurrence-especially if the event was life threatening. PTSD can result from terrifying experiences such as rape, kidnapping, natural disasters, or war or serious accidents such as airplane crashes. The psychological damage such incidents cause can interfere with a person's ability to hold a job or to develop intimate relationships with others.
Symptoms: The symptoms of PTSD can range from constantly reliving the event to a general emotional numbing. Persistent anxiety, exaggerated startle reactions, difficulty concentrating, nightmares, and insomnia are common. People with PTSD typically avoid situations that remind them of the traumatic event, because they provoke intense distress or even panic attacks.
Formal Diagnosis: Although the symptoms of PTSD may be an appropriate initial response to a traumatic event, they are considered part of a disorder when they persist beyond three months.
Treatment: Psychotherapy can help people who have PTSD regain a sense of control over their lives. They also may need cognitive behavior therapy to change painful and intrusive patterns of behavior and thought and to learn relaxation techniques. Support from family and friends can help speed recovery and healing. Medications, such as antidepressants and anti-anxiety agents to reduce anxiety, can ease the symptoms of depression and sleep problems. Treatment for PTSD often includes both psychotherapy and medication.

For more information, as well as referrals to specialists and self-help groups in your State, contact:
Anxiety Disorders Association of America
8730 Georgia Avenue - Suite 600
Silver Spring, MD 20910
Telephone: 240-485-1001
Fax: 240-485-1035
www.adaa.org

Mental Help Net
CenterSite, LLC
570 Metro Place
Dublin, OH 43017
http://mentalhelp.net/poc/center_index.php?id=1

National Mental Health Association
2001 Beauregard Street, 12th Floor
Alexandria, VA 22311
Telephone: 800-969-6642
Fax: 703-684-5968
(TDD): 800-433-5959
www.nmha.org/infoctr/factsheets/index.cfm

The National Institute of Mental Health's toll-free information line is
1-866-615-6464; their web address is

Anthrax Disease Information

2008-08-13T18:31:00.000-07:00

Anthrax is the disease caused by the bacterium Bacillus anthracis, which lives in soil. The bacterial cell lives as a hardy spore to survive harsh conditions. The spores germinate into thriving colonies of bacteria once inside an animal or person. Anthrax usually affects livestock far more than humans, but—as we know from the 2001 anthrax attacks in the United States—anthrax is feared as a modern biological weapon.

Anthrax occurs in three forms:
Cutaneous (affecting the skin)
Inhalational (in the lungs)
Gastrointestinal (in the digestive tract)
Cutaneous Anthrax

Cutaneous anthrax is the most common form of the disease. People with cuts or open sores can get cutaneous anthrax if they come in direct contact with the bacteria or its spores, usually through contaminated animal products. The skin will redden and swell, much like an insect bite, and then develop a painless blackened lesion or ulcer that may form a brown or black scab, which is actually dead tissue. Cutaneous anthrax responds well to antibiotics but may spread throughout the body if untreated. People who work with certain animals or animal carcasses are at risk of getting this form of the disease. Cutaneous anthrax is rare in the United States. According to the Centers for Disease Control and Prevention (CDC), the United States sees only one to two cases per year.
Inhalational Anthrax

When a person inhales the spores of B. anthracis, they germinate and the bacteria infect the lungs, spreading to the lymph nodes in the chest. As the bacteria grow, they produce two kinds of deadly toxins.

Symptoms usually appear 1 to 7 days after exposure, but they may first appear more than a month later. Fever, nausea, vomiting, aches, and fatigue are among the early symptoms of inhalational anthrax; it progresses to labored breathing, shock, and often death.

Historically, the mortality rate for naturally occurring inhalational anthrax has been 75 percent, even with appropriate treatment. But inhalational anthrax is rare. In the 2001 anthrax attacks, 11 people were infected with inhalational anthrax and 6 survived. Prior to 2001, the last known U.S. case was in 1976, when a California craftsman died after getting the infection from imported yarn contaminated with anthrax spores.
Gastrointestinal Anthrax

People can get gastrointestinal anthrax from eating meat contaminated with anthrax bacteria or their spores. Symptoms are stomach pain, loss of appetite, diarrhea, and fever. Antibiotic treatment can cure this form of anthrax, but left untreated, it may kill half of those who get it.

Gastrointestinal anthrax occurs naturally in warm and tropical regions of Asia, Africa, and the Middle East. There have been no confirmed cases of gastrointestinal anthrax in the United States, although a Minnesota farm family may have experienced symptoms of the disease in 2000 after eating meat from a steer that had anthrax.

Bacillus anthracis is a bacterium that lives in soil and has developed a survival tactic that allows it to endure for decades under the harshest conditions. An anthrax bacterial cell can transform itself into a spore, a very hardy resting phase which can withstand extreme heat, cold, and drought, without nutrients or air. When environmental conditions are favorable, the spores will germinate into thriving colonies of bacteria. For example, a grazing animal may ingest spores that begin to grow, spread, and eventually kill the animal. The bacteria will form spores in the carcass and then return to the soil to infect other animals in the future.

While its spore form allows the bacteria to survive in any environment, the ability to produce toxins is what makes the bacteria such a potent killer. Together, the hardiness and toxicity of B. anthracis make it a formidable bioterror agent. Its toxin is made of three proteins: protective antigen, edema factor, and lethal factor.
Protective antigen binds to select cells of an infected person or animal and forms a channel that permits edema factor and lethal factor to enter those cells.
Edema factor, once inside the cell, causes fluid to accumulate at the site of infection. Edema factor can contribute to a fatal build-up of fluid in the cavity surrounding the lungs. It also can inhibit some of the body’s immune functions.
Lethal factor also works inside the cell, disrupting a key molecular switch that regulates the cell’s functions. Lethal factor can kill infected cells or prevent them from working properly.
Bioterror Connection

In the fall of 2001, lethal anthrax bacteria were spread deliberately through the U.S. mail. Twenty-two people became ill, and five died. The perpetrator has not been caught.

Even before this bioterror attack, public health officials were concerned about the potential for such an event. In 1999, the Centers for Disease Control and Prevention (CDC) created lists of high-priority biological agents that terrorists could use to harm civilians. An expert panel of doctors and scientists classified Bacillus anthracis as a Category A bioterror agent. The NIAID list of Category A organisms includes those that pose the greatest threats to national security due to their ease of transmission, high rate of death or serious illness, potential for causing public panic, and the special public health measures an epidemic would require.

Since the creation of the CDC lists, public health officials and researchers have worked to plan and prepare for a possible bioterror attack. Following the 2001 anthrax attacks, federal funding for these efforts increased significantly.

If diagnosed early, anthrax is easily treated with antibiotics. Unfortunately, infected people often confuse early symptoms with more common infections and do not seek medical help until severe symptoms appear. By that time, the destructive anthrax toxins have already risen to high levels, making treatment difficult. Antibiotics can kill the bacteria, but antibiotics have no effect on anthrax toxins.

In 1970, the Food and Drug Administration (FDA) approved an anthrax vaccine for humans, which is licensed for limited use. The vaccine is currently used to protect members of the military and individuals most at risk for occupational exposure to the bacteria, such as slaughterhouse workers, veterinarians, laboratory workers, and livestock handlers. The vaccine does not contain the whole bacterium. Rather, it is made mostly of the anthrax protective antigen protein, so people cannot get anthrax infection from the vaccine.

Health experts currently do not recommend the vaccine for general use by the public because anthrax illness is rare and the vaccine has potential adverse side effects in some individuals. Researchers have not determined the safety and efficacy of the vaccine in children, the elderly, and people with weakened immune systems. Although the vaccine trials indicate that three to four doses of anthrax vaccine can generate significant protective immunity, the recommended vaccination schedule is six doses given over an 18-month period.

To quickly protect the public in the event of a bioterror attack, scientists are seeking to develop a new vaccine.

The National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, conducts and funds research to improve our ability to prevent, diagnose, and treat anthrax. Anthrax research was under way prior to the 2001 bioterror attack, but it has expanded significantly since then. New research findings are improving our understanding of how B. anthracis causes disease and how to better prevent and treat it.

Several biologic factors contribute to B. anthracis’ ability to cause disease. NIAID researchers and grantees are uncovering the molecular pathways that enable the bacterium to form spores, survive in people, and cause illness. Scientists envision this basic research to be the pathway to new vaccines, drugs, and diagnostic tools.
Natural history of anthrax

One goal of NIAID physician researchers is to look at the infectious disease process over time, from initial infection through the clinical course and beyond recovery. A small number of anthrax survivors from the 2001 attacks are enrolled in a long-term clinical study for this purpose. Many years of clinical observation are needed for this type of study to yield definitive results. Because the medical literature on anthrax does not include any findings regarding long-term complications in survivors, information gained in this study will be valuable to patients and healthcare workers.
Toxin biology

Scientists are studying anthrax toxins to learn how to block their production and action. Recently, NIAID-supported scientists have shown that protective antigen can bind edema factor and lethal factor at the same time, forming a greater variety of toxin complexes than were previously known. This finding could help researchers develop antitoxin therapies.

Previously, scientists discovered the three-dimensional molecular structure of the anthrax protective antigen protein bound to one of the receptors (CMG2) it uses to enter cells. Using a specific fragment of the CMG2 receptor protein, researchers have been able to block the attachment of protective antigen in test-tube experiments, thereby inhibiting all anthrax toxin activity.

NIAID-funded scientists also had synthesized a small cyclic molecule that blocks anthrax toxin in cell culture and in rodents. The molecule blocks the pore formed by anthrax protective antigen. Blocking the pore effectively prevents lethal factor and edema factor toxins from entering cells.

Scientists anticipate that these findings will lead to new and effective treatments.
Anthrax bacterium genome

Genes are the instructions for making proteins, which in turn build components of the cell or carry out its biochemical processes. The instructions that dictate how a microbe works are encoded within its genes. Bacteria keep most of their genes in a chromosome, a very long stretch of DNA. Smaller circular pieces of DNA called plasmids also carry genes that bacteria may exchange with each other. Because plasmids often contain genes for toxins and antibiotic resistance, knowing the DNA sequence of such plasmids is important.

Scientists have sequenced plasmids carrying the toxin genes of B. anthracis. In addition, researchers have sequenced the complete chromosomal DNA sequence of several B. anthracis strains, including one that killed a Florida man in the 2001 anthrax bioterror attack.

By comparing the DNA blueprints of different B. anthracis strains, researchers are learning why some strains are more virulent than others. Small variations among the DNA sequences of different strains may also help investigators pinpoint the origin of an anthrax outbreak.

Knowing the genetic fingerprint of B. anthracis might lead to gene-based detection mechanisms that can alert scientists to the bacteria in the environment or allow rapid diagnosis of anthrax in infected people. Variations between strains might also point to differences in antibiotic susceptibility, permitting doctors to immediately determine the appropriate treatment.

Scientists are now analyzing the B. anthracis genome sequence to determine the function of each of its genes and to learn how those genes interact with each other or with host-cell components to cause disease. Knowing the sequence of B. anthracis genes will help scientists discover key bacterial proteins that can then be targeted by new drugs or vaccines.
Spore biology

B. anthracis spores are essentially dormant and must “wake up,” or germinate, to become reproductive, disease-causing bacteria. Researchers are studying the germination process to learn more about the signals that cause spores to become active once inside an animal or person. Efforts are under way to develop models of spore germination in laboratory animals. Scientists hope those models will enable discoveries leading to drugs that block the germination process in B. anthracis spores.
Host immunity

People who contract anthrax produce antibodies to protective antigen protein. Similar antibodies appear to block infection in animals. Recent studies also suggest that some animals can produce antibodies to components of B. anthracis spores. Those antibodies, when studied in a test tube, prevent spores from germinating and increase their uptake by the immune system’s microbe-eating cells. These discoveries suggest that scientists might be able to develop a vaccine to fight both B. anthracis cells and spores.

Researchers also are studying how the immune system responds to B. anthracis infection. Part of the immune system response, known as adaptive immunity, consists of B and T cells that specifically recognize components of the anthrax bacterium. The other type of immune response—innate immunity—aims more generally to combat a wide range of microbial invaders and likely plays a key role in the body’s front-line defenses. Scientists are conducting studies of how those two arms of the immune system act to counter infection, including how B. anthracis spore germination affects individual immune responses.

In another study, NIAID-supported scientists have discovered a potential target for developing new measures to prevent and treat anthrax toxicity. Their study shows that a human gene called LRP6 plays a role in the delivery of anthrax toxins into cells. Antibodies directed against LRP6 protected cell cultures from anthrax lethal toxin. These results suggest that targeting LRP6 may prove useful in developing ways to protect against the effects of accumulated toxin.
Vaccine

NIAID is supporting research on next-generation anthrax vaccines designed to prevent infection using fewer doses than the currently licensed vaccine. The new vaccines, called recombinant protective antigen, or rPA vaccines, are based on the gene for just one anthrax toxin. These vaccines have been tested in rabbits and monkeys and have completed two phases of clinical trials in humans. The rPA vaccines appear to produce an effective immune response in people with intact immune systems. In general, the goal is to make rPA vaccines that are safer, more reliable, can be produced in large quantities, and may also be given to people with compromised immune systems.
Diagnostics

Research is under way to develop improved techniques for spotting B. anthracis in the environment and diagnosing it in infected individuals. As mentioned previously, a key part of that research is the functional genomic analysis of the bacterium, which should lead to new genetic markers for sensitive and rapid identification. Genomic analysis will also reveal differences in individual B. anthracis strains that may affect how those bacteria cause disease or respond to treatment.
Therapies

Following the discoveries of how the protective antigen and lethal factor proteins interact with cells, researchers are screening thousands of small molecules in hopes of finding an anti-anthrax drug. In addition, NIAID is working with FDA, CDC, and the Department of Defense to accelerate testing of collections of compounds for their effectiveness against inhalational anthrax. Many of those compounds already have been approved by FDA for other conditions and therefore could quickly be approved for use in treating anthrax, should they prove effective.

NIAID is also seeking new drugs that attack B. anthracis at different levels. These include agents that prevent the bacterium from attaching to cells, compounds that inhibit spore germination, and inhibitors that block the activity of key enzymes such as anthrax lethal factor. NIAID also will develop the capacity to synthesize promising anti-anthrax compounds in sufficient purity and quantity for preclinical testing.

NIAID-supported scientists have solved the structure of enzymes called sortases, which are known to anchor bacterial surface proteins to the cell walls. These enzymes may be essential to bacterial survival, and therefore could be an attractive potential target for therapies.

Scientists have designed a compound that blocks anthrax toxins from attaching to receptors on the surface of host cells in animal models. If the toxin cannot attach to and enter the cell, it is effectively neutralized. The new inhibitor is much more potent than current therapies and shows promise against some antibiotic-resistant strains as well. The general concept could also be applied to designing inhibitors for other pathogens.

Researchers have also found that human monoclonal antibodies protect against inhalation anthrax in three animal models. New anthrax therapies, such as monoclonal and polyclonal antibodies that can neutralize anthrax toxins, are being further developed.

Suicide Information

2008-08-13T18:23:00.000-07:00

Suicide is a major, preventable public health problem. In 2004, it was the eleventh leading cause of death in the U.S., accounting for 32,439 deaths.1 The overall rate was 10.9 suicide deaths per 100,000 people.1 An estimated eight to 25 attempted suicides occur per every suicide death.2

Suicidal behavior is complex. Some risk factors vary with age, gender, or ethnic group and may occur in combination or change over time.
If you are in a crisis and need help right away:

Call this toll-free number, available 24 hours a day, every day: 1-800-273-TALK (8255). You will reach the National Suicide Prevention Lifeline, a service available to anyone. You may call for yourself or for someone you care about. All calls are confidential.
What are the risk factors for suicide?

Research shows that risk factors for suicide include:
depression and other mental disorders, or a substance-abuse disorder (often in combination with other mental disorders). More than 90 percent of people who die by suicide have these risk factors.2
stressful life events, in combination with other risk factors, such as depression. However, suicide and suicidal behavior are not normal responses to stress; many people have these risk factors, but are not suicidal.
prior suicide attempt
family history of mental disorder or substance abuse
family history of suicide
family violence, including physical or sexual abuse
firearms in the home,3 the method used in more than half of suicides
incarceration
exposure to the suicidal behavior of others, such as family members, peers, or media figures.2

Research also shows that the risk for suicide is associated with changes in brain chemicals called neurotransmitters, including serotonin. Decreased levels of serotonin have been found in people with depression, impulsive disorders, and a history of suicide attempts, and in the brains of suicide victims. 4
Are women or men at higher risk?
Suicide was the eighth leading cause of death for males and the sixteenth leading cause of death for females in 2004.1
Almost four times as many males as females die by suicide.1
Firearms, suffocation, and poison are by far the most common methods of suicide, overall. However, men and women differ in the method used, as shown below.1 Suicide by: Males (%) Females (%)
Firearms 57 32
Suffocation 23 20
Poisoning 13 38

Is suicide common among children and young people?

In 2004, suicide was the third leading cause of death in each of the following age groups.1 Of every 100,000 young people in each age group, the following number died by suicide:1
Children ages 10 to 14 — 1.3 per 100,000
Adolescents ages 15 to 19 — 8.2 per 100,000
Young adults ages 20 to 24 — 12.5 per 100,000

As in the general population, young people were much more likely to use firearms, suffocation, and poisoning than other methods of suicide, overall. However, while adolescents and young adults were more likely to use firearms than suffocation, children were dramatically more likely to use suffocation.1

There were also gender differences in suicide among young people, as follows:
Almost four times as many males as females ages 15 to 19 died by suicide.1
More than six times as many males as females ages 20 to 24 died by suicide.1
Are older adults at risk?

Older Americans are disproportionately likely to die by suicide.
Of every 100,000 people ages 65 and older, 14.3 died by suicide in 2004. This figure is higher than the national average of 10.9 suicides per 100,000 people in the general population. 1
Non-Hispanic white men age 85 or older had an even higher rate, with 17.8 suicide deaths per 100,000.1
Are Some Ethnic Groups or Races at Higher Risk?

Of every 100,000 people in each of the following ethnic/racial groups below, the following number died by suicide in 2004.1
Highest rates:
Non-Hispanic Whites — 12.9 per 100,000
American Indian and Alaska Natives — 12.4 per 100,000
Lowest rates:
Non-Hispanic Blacks — 5.3 per 100,000
Asian and Pacific Islanders — 5.8 per 100,000
Hispanics — 5.9 per 100,000
What are some risk factors for nonfatal suicide attempts?
As noted, an estimated eight to 25 nonfatal suicide attempts occur per every suicide death. Men and the elderly are more likely to have fatal attempts than are women and youth.2
Risk factors for nonfatal suicide attempts by adults include depression and other mental disorders, alcohol abuse, cocaine use, and separation or divorce.5,6
Risk factors for attempted suicide by youth include depression, alcohol or other drug-use disorder, physical or sexual abuse, and disruptive behavior.6,7
Most suicide attempts are expressions of extreme distress, not harmless bids for attention. A person who appears suicidal should not be left alone and needs immediate mental-health treatment.
What can be done to prevent suicide?

Research helps determine which factors can be modified to help prevent suicide and which interventions are appropriate for specific groups of people. Before being put into practice, prevention programs should be tested through research to determine their safety and effectiveness.8 For example, because research has shown that mental and substance-abuse disorders are major risk factors for suicide, many programs also focus on treating these disorders.

Studies showed that a type of psychotherapy called cognitive therapy reduced the rate of repeated suicide attempts by 50 percent during a year of follow-up. A previous suicide attempt is among the strongest predictors of subsequent suicide, and cognitive therapy helps suicide attempters consider alternative actions when thoughts of self-harm arise.9

Specific kinds of psychotherapy may be helpful for specific groups of people. For example, a recent study showed that a treatment called dialectical behavior therapy reduced suicide attempts by half, compared with other kinds of therapy, in people with borderline personality disorder (a serious disorder of emotion regulation).10

The medication clozapine is approved by the Food and Drug Administration for suicide prevention in people with schizophrenia.11 Other promising medications and psychosocial treatments for suicidal people are being tested.

Since research shows that older adults and women who die by suicide are likely to have seen a primary care provider in the year before death, improving primary-care providers' ability to recognize and treat risk factors may help prevent suicide among these groups.12 Improving outreach to men at risk is a major challenge in need of investigation.
What should I do if I think someone is suicidal?

If you think someone is suicidal, do not leave him or her alone. Try to get the person to seek immediate help from his or her doctor or the nearest hospital emergency room, or call 911. Eliminate access to firearms or other potential tools for suicide, including unsupervised access to medications.
For More Information About Suicide

Suicide Information and Organizations from NLM's MedlinePlus (en Español)
References

1. Centers for Disease Control and Prevention, National Center for Injury Prevention and Control. Web-based Injury Statistics Query and Reporting System (WISQARS) : www.cdc.gov/ncipc/wisqars

2. Moscicki EK. Epidemiology of completed and attempted suicide: toward a framework for prevention. Clinical Neuroscience Research, 2001; 1: 310-23.

3. Miller M, Azrael D, Hepburn L, Hemenway D, Lippmann SJ. The association between changes in household firearm ownership and rates of suicide in the United States, 1981-2002. Injury Prevention 2006;12:178-182; doi:10.1136/ip.2005.010850

4. Arango V, Huang YY, Underwood MD, Mann JJ. Genetics of the serotonergic system in suicidal behavior. Journal of Psychiatric Research. Vol. 37: 375-386. 2003.

5. Kessler RC, Borges G, Walters EE. Prevalence of and risk factors for lifetime suicide attempts in the National Comorbidity Survey. Archives of General Psychiatry, 1999; 56(7): 617-26.

6. Petronis KR, Samuels JF, Moscicki EK, Anthony JC. An epidemiologic investigation of potential risk factors for suicide attempts. Social Psychiatry and Psychiatric Epidemiology, 1990; 25(4): 193-9.

7. U.S. Public Health Service. National strategy for suicide prevention: goals and objectives for action. Rockville, MD: USDHHS, 2001.

8. Gould MS, Greenberg T, Velting DM, Shaffer D. Youth suicide risk and preventive interventions: a review of the past 10 years. Journal of the American Academy of Child and Adolescent Psychiatry, 2003; 42(4): 386-405.

9. Brown GK, Ten Have T, Henriques GR, Xie SX, Hollander JE, Beck AT. Cognitive therapy for the prevention of suicide attempts: a randomized controlled trial. Journal of the American Medical Association . 2005 Aug 3;294(5):563-70.

10. Linehan MM, Comtois KA, Murray AM, Brown MZ, Gallop RJ, Heard HL, Korslund KE, Tutek DA, Reynolds SK, Lindenboim N. Two-Year Randomized Controlled Trial and Follow-up of Dialectical Behavior Therapy vs Therapy by Experts for Suicidal Behaviors and Borderline Personality Disorder. Archives of General Psychiatry, 2006 Jul;63(7):757-766.

11. Meltzer HY, Alphs L, Green AI, Altamura AC, Anand R, Bertoldi A, Bourgeois M, Chouinard G, Islam MZ, Kane J, Krishnan R, Lindenmayer JP, Potkin S; International Suicide Prevention Trial Study Group. Clozapine treatment for suicidality in schizophrenia: International Suicide Prevention Trial (InterSePT). Archives of General Psychiatry, 2003; 60(1): 82-91.

12. Luoma JB, Pearson JL, Martin CE. Contact with mental health and primary care prior to suicide: a review of the evidence. American Journal of Psychiatry, 2002; 159: 909-16.

NIH Publication No. 06-4594

Hodgkin Disease Information

2008-08-10T22:09:00.000-07:00

Hodgkin disease (or Hodgkin lymphoma) is a type of lymphoma. There are 2 kinds of lymphoma:

Hodgkin disease (named after Dr. Thomas Hodgkin, who recognized it in 1832)

non-Hodgkin lymphoma

Non-Hodgkin lymphoma is covered in a separate American Cancer Society document.

The Lymph System and Lymphoid Tissue

To better understand Hodgkin disease, it helps to know about the body's lymph (pronounced "limf") system. The lymph system is made up of lymphoid tissue, lymph vessels, and a clear fluid called lymph.

Lymphatic tissue includes the lymph nodes and other organs that are part of the body’s immune and blood-forming systems. Lymph nodes are small, bean-shaped organs found in many places throughout the body. Other parts of the lymphatic system include the spleen, the bone marrow, and the thymus gland.

The lymph nodes make and store lymphocytes, which are special white blood cells that fight infection. There are 2 types of lymphocytes: B lymphocytes (or B cells) and T lymphocytes (or T cells). Most cases of Hodgkin disease start in B lymphocytes.

Start and Spread of Hodgkin Disease

Because lymphatic tissue is found in many parts of the body, Hodgkin disease can start almost anywhere. Most often it starts in lymph nodes in the upper part of the body. (Those in the chest, neck, or under the arms.) This disease causes the lymphatic tissue to become enlarged and press on nearby structures. But lymph nodes can become swollen for many reasons. Most often it happens when the body is fighting an infection.

Hodgkin disease can spread through the lymphatic vessels in a stepwise fashion from lymph node to lymph node. Rarely, and late in the disease, it gets into the blood vessels and can then spread to almost any other place in the body.

The Hodgkin Disease Cell

The cancer cells in Hodgkin disease are unique. They are called Reed-Sternberg cells (or Hodgkin cells). They are an abnormal type of B lymphocyte that is much larger than normal lymphocytes.

The 2 main types are classical Hodgkin disease (which has several subtypes) and nodular lymphocyte predominance Hodgkin disease. The types differ in the way the cancer cells look under a microscope. The types are important because each grows and spreads in a different way. Often they are treated differently. Ask your doctor about the exact type of Hodgkin disease you (or your loved one) has.

Classical Hodgkin Disease

Classical Hodgkin disease (HD) accounts for about 95% of all cases of Hodgkin disease in developed countries. It has 4 subtypes, all of which have Reed-Sternberg cells that can be seen under the microscope.

Nodular Lymphocyte Predominant Hodgkin Disease

Nodular lymphocyte predominant Hodgkin disease (NLPHD) accounts for about 5% of Hodgkin disease. This type mostly involves lymph nodes in the neck and under the arm.

All types of Hodgkin disease are cancerous (malignant) because as they grow they may compress, invade, and destroy normal tissue and spread to other tissues. Hodgkin disease occurs in both children and adults. Because Hodgkin disease is similar in both children and adults, this document covers treatment in both groups.

Autoimmune Disorders Information

2008-08-10T21:29:00.000-07:00

The immune system is the body's means of protection against microorganisms and other "foreign" substances. It is composed of two major parts. One component, B lymphocytes, produces antibodies, proteins that attack "foreign" substances and cause them to be removed from the body; this is sometimes called the humoral immune system. The other component consists of special white blood cells called T lymphocytes, which can attack "foreign" substances directly; this is sometimes called the cellular immune system. It takes time for both components of the immune system to develop. The only protections a newborn will have are the antibodies that have transferred from the mother to the baby before birth. T lymphocytes become protective, and antibodies are developed after a person is exposed to specific "foreign" threats. Over a lifetime, the immune system develops an extensive library of identified substances and microorganisms that are cataloged as “threat” or “not threat.” Vaccinations utilize this process to add to the library. They expose a person’s immune system to weakened or inactivated forms of bacteria and viruses that can no longer cause disease, so that the person’s immune system will recognize them and create antibodies that will be ready to protect against the infectious forms of these microorganisms if the person comes in contact with them in the future.

Normally, the immune system can distinguish between “self” and “not self” and only attacks those tissues that it recognizes as “not self.” This is usually the desired response, but not always. When a person is given an organ transplant, the immune system will correctly recognize the new organ as “not self” (unless it is from an identical twin) and will attack it in a process called rejection. To prevent rejection, the transplant patient must take drugs that reduce the activity of the immune system (immunosuppressants) for the rest of his life.

What are autoimmune disorders?
Autoimmune disorders are diseases caused by the body producing an inappropriate immune response against its own tissues. Sometimes the immune system will cease to recognize one or more of the body’s normal constituents as “self” and will create autoantibodies – antibodies that attack its own cells, tissues, and/or organs. This causes inflammation and damage and it leads to autoimmune disorders.

The cause of autoimmune diseases is unknown, but it appears that there is an inherited predisposition to develop autoimmune disease in many cases. In a few types of autoimmune disease (such as rheumatic fever), a bacteria or virus triggers an immune response, and the antibodies or T-cells attack normal cells because they have some part of their structure that resembles a part of the structure of the infecting microorganism.

Autoimmune disorders fall into two general types: those that damage many organs (systemic autoimmune diseases) and those where only a single organ or tissue is directly damaged by the autoimmune process (localized). However, the distinctions become blurred as the effect of localized autoimmune disorders frequently extends beyond the targeted tissues, indirectly affecting other body organs and systems. Some of the most common types of autoimmune disorders include:
Systemic Autoimmune Diseases Localized Autoimmune Diseases

Rheumatoid arthritis (RA) and Juvenile RA (JRA) (joints; less commonly lung, skin)
Type 1 Diabetes Mellitus (pancreas islets)

Lupus [Systemic Lupus Erythematosus] (skin, joints, kidneys, heart, brain, red blood cells, other)
Hashimoto's thyroiditis, Graves' disease (thyroid)

Scleroderma (skin, intestine, less commonly lung)
Celiac disease, Crohn's disease, Ulcerative colitis (GI tract)

Sjogren's syndrome (salivary glands, tear glands, joints)
Multiple sclerosis*

Goodpasture's syndrome (lungs, kidneys)
Addison's disease (adrenal)

Wegener's granulomatosis (blood vessels, sinuses, lungs, kidneys)
Primary biliary cirrhosis, Sclerosing cholangitis, Autoimmune hepatitis (liver)

Polymyalgia Rheumatica (large muscle groups)
Temporal Arteritis / Giant Cell Arteritis (arteries of the head and neck)

Guillain-Barre syndrome (nervous system)

* There is still some debate as to whether MS is an autoimmune disease

For a more complete list of autoimmune conditions, visit the Patient Information page of the American Autoimmune Related Diseases Association, Inc.

In some cases, a person may have more than one autoimmune disease; for example, persons with Addison's disease often have type 1 diabetes, while persons with sclerosing cholangitis often have ulcerative colitis.

In some cases, the antibodies may not be directed at a specific tissue or organ; for example, antiphospholipid antibodies can react with clotting proteins in the blood, leading to formation of blood clots within the blood vessels (thrombosis).

Autoimmune disorders are diagnosed, evaluated, and monitored through a combination of autoantibody blood tests, blood tests to measure inflammation and organ function, clinical presentation, and through non-laboratory examinations such as X-rays. There is currently no cure for autoimmune disorders, although in rare cases they may disappear on their own. Many people may experience flare-ups and temporary remissions in symptoms, others chronic symptoms or a progressive worsening. Treatment of autoimmune disorders is tailored to the individual and may change over time. The goal is to relieve symptoms, minimize organ and tissue damage, and preserve organ function. New treatments and a greater understanding of autoimmune disorders are being researched. Patients should talk to their doctors and to any specialists they are referred to about their treatment options.

For more information on specific autoimmune disorders, see the related condition pages and web sites listed below.

How to Find Help Through Psychotherapy Information

2008-08-07T18:28:00.000-07:00

Millions of Americans have found relief from depression and other emotional difficulties through psychotherapy. Even so, some people find it hard to get started or stay in psychotherapy. This brief question-and-answer guide provides some basic information to help individuals take advantage of outpatient (non-hospital) psychotherapy.

Why do people consider using psychotherapy?

Psychotherapy is a partnership between an individual and a professional such as a psychologist who is licensed and trained to help people understand their feelings and assist them with changing their behavior. According to the National Institute of Mental Health, one-third of adults in the United States experience an emotional or substance abuse problem. Nearly 25 percent of the adult population suffers at some point from depression or anxiety.

People often consider psychotherapy, also known simply as therapy, under the following circumstances:

- They feel an overwhelming and prolonged sense of sadness and helplessness, and they lack hope in their lives.
- Their emotional difficulties make it hard for them to function from day to day. For example, they are unable to concentrate on assignments and their job performance suffers as a result.
- Their actions are harmful to themselves or to others. For instance, they drink too much alcohol and become overly aggressive.
- They are troubled by emotional difficulties facing family members or close friends.

What does research show about the effectiveness of psychotherapy?

Research suggests that therapy effectively decreases patients' depression and anxiety and related symptoms- such as pain, fatigue and nausea. Psychotherapy has also been found to increase survival time for heart surgery and cancer patients, and it can have a positive effect on the body's immune system. Research increasingly supports the idea that emotional and physical health are very closely linked and that therapy can improve a person's overall health status.

There is convincing evidence that most people who have at least several sessions of psychotherapy are far better off than untreated individuals with emotional difficulties. One major study showed that 50 percent of patients noticeably improved after eight sessions while 75 percent of individuals in therapy improved by the end of six months. Psychotherapy with children is similar in effectiveness to psychotherapy with adults.

How do I find a qualified therapist?

Selecting a therapist is a highly personal matter. A professional who works very well with one individual may not be a good choice for another person. There are several ways to get referrals to qualified therapists, such as licensed psychologists, including the following:

- Talk to close family members and friends for their recommendations, especially if they have had a good experience with psychotherapy.
- Many state psychological associations operate referral services which put individuals in touch with licensed and competent mental health providers. (Call the American Psychological Association's consumer information line at 800-964-2000 to be connected to the appropriate state organization.)
- Ask your primary care physician (or other health professional) for a referral. Tell the doctor what's important to you in choosing a therapist so he or she can make appropriate suggestions.
- Inquire at your church or synagogue.
- Look in the phone book for the listing of a local mental health association or community mental health center and check these sources for possible referrals.

Ideally, you will end up with more than one lead. Call and request the opportunity, either by phone or in person, to ask the therapist some questions. You might want to inquire about his or her licensure and level of training, approach to psychotherapy, participation in insurance plans and fees. Such a discussion should help you sort through your options and choose someone with whom you believe you might interact well.

If I begin psychotherapy, how should I try to gain the most from it?

There are many approaches to outpatient psychotherapy and various formats in which it may occur, including individual, group and family psychotherapy. Despite the variations, all psychotherapy is a two-way process that works especially well when patients and their therapists communicate openly. Research has shown that the outcome of psychotherapy is improved when the therapist and patient agree early about what the major problems are and how psychotherapy can help.

You and your therapist both have responsibilities in establishing and maintaining a good working relationship. Be clear with your therapist about your expectations and share any concerns that may arise. Psychotherapy works best when you attend all scheduled sessions and give some forethought to what you want to discuss during each one.

How can I evaluate whether therapy is working well?

As you begin psychotherapy, you should establish clear goals with your therapist. Perhaps you want to overcome feelings of hopelessness associated with depression. Or maybe you would like to control a fear that disrupts your daily life. Keep in mind that certain tasks require more time to accomplish than others. You may need to adjust some of your goals depending on how long you plan to be in psychotherapy.

After a few sessions, it's a good sign if you feel the experience is truly a joint effort and that you and the therapist enjoy a good rapport. On the other hand, you should be open with your therapist if you find yourself feeling "stuck" or lacking direction once you've been in psychotherapy awhile.

There may be times when a therapist appears cold and uninterested or doesn't seem to regard you positively. Tell your therapist if this is the situation, or if you question other aspects of his or her approach. If you find yourself thinking about discontinuing psychotherapy, talk with your therapist. It might be helpful to consult another professional, provided you let your therapist know you are seeking a second opinion.

Patients often feel a wide range of emotions during psychotherapy. Some qualms about psychotherapy that people may have result from the difficulty of discussing painful and troubling experiences. When this happens, it can actually be a positive sign indicating that you are starting to explore your thoughts and behaviors.

You should spend time with your therapist periodically reviewing your progress (or your concern that you are not making sufficient headway). Although there are other considerations affecting the duration of psychotherapy, success in reaching your primary goals should be a major factor in deciding when your psychotherapy should end.

Psychotherapy isn't easy, but patients who are willing to work in close partnership with their therapists often find relief from their emotional distress and begin to lead more productive and fulfilling lives.

Von Hippel-Lindau syndrome Information

2008-08-06T23:15:00.000-07:00

Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and usually appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.

Tumors called hemangioblastomas are characteristic of von Hippel-Lindau syndrome. These growths are made of newly formed blood vessels and are typically noncancerous. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss.

People with von Hippel-Lindau syndrome commonly develop cysts in the kidneys, pancreas, and male genital tract. They are also at an increased risk of developing a type of kidney cancer called clear cell renal cell carcinoma and a type of noncancerous tumor called a pheochromocytoma. Pheochromocytomas affect the adrenal glands, which are small hormone-producing glands located on top of each kidney. These tumors often cause no symptoms, but in some cases they can produce an excess of hormones that cause dangerously high blood pressure.

About 10 percent of people with von Hippel-Lindau syndrome develop endolymphatic sac tumors, which are noncancerous tumors in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance.

Von Hippel-Lindau syndrome can be divided into two major types based on the risk of developing pheochromocytomas. Type 1 von Hippel-Lindau syndrome is associated with a low risk of these tumors, and type 2 is characterized by a much higher risk. Type 2 can be further divided into types 2A, 2B, and 2C, depending on the probability of developing renal cell carcinoma and hemangioblastomas.
How common is von Hippel-Lindau syndrome?

The incidence of von Hippel-Lindau syndrome is estimated to be 1 in 36,000 individuals.
What genes are related to von Hippel-Lindau syndrome?

Mutations in the VHL gene cause von Hippel-Lindau syndrome. The VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein. An altered or missing VHL protein cannot effectively regulate cell survival and division. As a result, cells grow and divide uncontrollably to form the tumors and cysts that are characteristic of von Hippel-Lindau syndrome.

Read more about the VHL gene.
How do people inherit von Hippel-Lindau syndrome?

Mutations in the VHL gene are inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and cysts. Most people with von Hippel-Lindau syndrome inherit an altered copy of the gene from an affected parent. In about 20 percent of cases, however, the altered gene is the result of a new mutation that occurred during the formation of reproductive cells (eggs or sperm) or very early in development.

Unlike most autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the VHL gene must be altered to trigger tumor and cyst formation in von Hippel-Lindau syndrome. A mutation in the second copy of the VHL gene occurs during a person's lifetime in certain cells within organs such as the brain, retina, and kidneys. Cells with two altered copies of this gene make no functional VHL protein, which allows tumors and cysts to develop. Almost everyone who inherits one VHL mutation will eventually acquire a mutation in the second copy of the gene in some cells, leading to the features of von Hippel-Lindau syndrome.
Where can I find information about treatment for von Hippel-Lindau syndrome?

These resources address the management of von Hippel-Lindau syndrome and may include treatment providers.
Brigham and Women's Hospital
Gene Review
Genetic Alliance
M. D. Anderson Cancer Center
MedlinePlus Encyclopedia: Pheochromocytoma
MedlinePlus Encyclopedia: Renal Cell Carcinoma

You might also find information on treatment of von Hippel-Lindau syndrome in Educational resources and Patient support.
Where can I find additional information about von Hippel-Lindau syndrome?

You may find the following resources about von Hippel-Lindau syndrome helpful. These materials are written for the general public.
MedlinePlus - Health information (5 links)
Additional NIH Resources - National Institutes of Health (4 links)
Educational resources - Information pages (8 links)
Patient support - For patients and families (4 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.
Gene Reviews - Clinical summary
Gene Tests - DNA tests ordered by healthcare professionals
ClinicalTrials.gov - Linking patients to medical research
PubMed - Recent literature
OMIM - Genetic disorder catalog
What other names do people use for von Hippel-Lindau syndrome?
Angiomatosis retinae
Cerebelloretinal Angiomatosis, Familial
Hippel-Lindau Disease
VHL syndrome
von Hippel-Lindau Disease

See How are genetic conditions and genes named? in the Handbook.
What if I still have specific questions about von Hippel-Lindau syndrome?
See How can I find a genetics professional in my area? in the Handbook.
Ask the Genetic and Rare Diseases Information Center.
Submit your question to Ask the Geneticist.
Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.
What does it mean if a disorder seems to run in my family?
What are the different ways in which a genetic condition can be inherited?
If a genetic disorder runs in my family, what are the chances that my children will have the condition?
Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.
Genetics and health
Resources for Patients and Families
Resources for Health Professionals
What glossary definitions help with understanding von Hippel-Lindau syndrome?

adrenal glands ; angioma ; ataxia ; autosomal ; autosomal dominant ; cancer ; carcinoma ; cell ; cysts ; egg ; familial ; gene ; hemangioblastoma ; hormone ; incidence ; kidney ; mutation ; new mutation ; pancreas ; pheochromocytoma ; probability ; protein ; renal ; reproductive cells ; retina ; sign ; sperm ; symptom ; syndrome ; tinnitus ; tissue ; tumor ; tumor suppressor gene

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (7 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Tuberous sclerosis complex (TSC) Disease Information

2008-08-03T20:04:00.000-07:00

Tuberous sclerosis complex (TSC) is a genetic disorder that causes tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. You will see it referred to both as tuberous sclerosis (TS) and tuberous sclerosis complex (TSC). The term TSC is used in scientific literature to distinguish tuberous sclerosis complex from Tourette's syndrome.

The disease affects some people severely, while others are so mildly affected that it often goes undiagnosed. Some people with TSC experience developmental delay, mental retardation and autism. However, there are also many people with TSC living independent, healthy lives who enjoy challenging professions such as doctors, lawyers, educators and researchers.

How many people have TSC?

At least two children born each day will have tuberous sclerosis complex. Current estimates place tuberous sclerosis complex-affected births at one in 6,000. Nearly 1 million people worldwide are known to have TSC, with approximately 50,000 in the United States. There are many undiagnosed cases due to the obscurity of the disease and the mild form symptoms may take in some people. TSC is as common as ALS (Lou Gehrig's Disease) but virtually unknown by the general population.

How does a person develop TSC?

Tuberous sclerosis complex is transmitted either through genetic inheritance or as a spontaneous genetic mutation. Children have a 50 percent chance of inheriting TSC if one of their parents has this condition. At this point, only one-third of TSC cases are known to be inherited. The other two-thirds are believed to be a result of spontaneous mutation. The cause of these mutations is still a mystery.

If a parent has a mild form of TSC, will their child with TSC also be mildly affected?

People with mild cases of tuberous sclerosis complex can produce a child who is more severely affected. In fact, some people are so mildly affected that they may only find out they also have TSC after their more severely affected child receives a diagnosis of TSC.

How is TSC diagnosed?

Diagnosis of tuberous sclerosis complex is currently made after the following tests are preformed: a brain MRI or CT Scan, renal ultrasound, echocardiogram of the heart, EKG, eye exam and a Wood's Lamp evaluation of the skin.

What genes are responsible for TSC?

Two genes have been identified that can cause tuberous sclerosis complex. Only one of the genes needs to be affected for TSC to be present. The TSC1 gene is located on chromosome 9 and is called the hamartin gene. The other gene, TSC2, is located on chromosome 16 and is called the tuberin gene. Researchers are now trying to determine what these genes do and how a defect in these genes causes tuberous sclerosis complex.

How can so many different organs be affected by TSC?

Both the TSC1 and TSC2 genes are believed to suppress tumor growth in the body. When either of these genes are defective, tumors are not suppressed and tuberous sclerosis complex results. The genes also play a role in the early fetal development of the brain and skin.

Are the tumors cancerous?

The tumors resulting from tuberous sclerosis complex are non-cancerous, but may still cause serious problems. Tumors that grow in the brain can block the flow of cerebral spinal fluid in the spaces (ventricles) in the brain. This can lead to behavior changes, nausea, headaches or a number of other symptoms. In the heart, the tumors are usually at their largest at birth, and then decrease in size as the individual gets older. These heart tumors, called cardiac rhabdomyomas, can cause problems at birth if they are blocking the flow of blood or causing severe arrhythmia problems. The tumors in the eyes are not as common, but can present problems if they grow and block too much of the retina. The tumors in the kidney (renal angiomyolipoma) can become so large they eventually take over all of the normal kidney function. In the past, the patient was left until they developed kidney failure. Today, doctors are more aggressive and remove individual tumors before they get too large and compromise healthy kidney tissue. Very rarely (less than 2 percent of) individuals with TSC develop malignant (cancerous) kidney tumors.

What is the normal life expectancy of an individual with TSC?

Most people with TSC will live a normal life span. There can be complications in some organs such as the kidneys and brain that can lead to severe difficulties and even death if left untreated. To reduce these dangers, people with TSC should be monitored throughout their life by their physician for potential complications. Thanks to research findings and improved medical therapies, people with tuberous sclerosis complex can expect improved health care.

Since there is no cure, what can be done?

Early intervention is helping to overcome developmental delays. Advancements in research are bringing new and improved therapeutic options. Surgery to remove tumors or stop tumor growth is helping to preserve the function of affected organs. Technology is pinpointing the exact portions of the brain stimulating seizures and creating new therapies to help control seizures. With every new day we are one step closer to finding improved treatments.

Tourette Syndrome Disease Information

2008-08-02T19:15:00.000-07:00

1. What is Tourette Syndrome?

Tourette Syndrome TS) is a neurological disorder characterized by tics -- involuntary, rapid, sudden movements or vocalizations that occur repeatedly in the same way. The symptoms include:
Both multiple motor and one or more vocal tics present at some time during the illness although not necessarily simultaneously;

The occurrence of tics many times a day (usually in bouts) nearly every day or intermittently throughout a span of more than one year; and

Periodic changes in the number, freency, type and location of the tics, and waxing and waning of their severity. Symptoms can sometimes disappear for weeks or months at a time.

Onset before the age of 18.

The term, "involuntary," used to describe TS tics is sometimes confusing since it is known that most people with TS do have some control over their symptoms. What is not recognized is that the control, which can be exercised anywhere from seconds to hours at a time, may merely postpone more severe outbursts of symptoms. Tics are experienced as irresistible and (as with the urge to sneeze) eventually must be expressed. People with TS often seek a secluded spot to release their symptoms after delaying them in school or at work. Typically, tics increase as a result of tension or stress, and decrease with relaxation or when focusing on an absorbing task.

2. How would a typical case of TS be described?

The term typical cannot be applied to TS. The expression of symptoms covers a spectrum from very mild to quite severe. However, the majority of cases can be categorized as mild.

3. Is obscene language (coprolalia) a typical symptom of TS?

Definitely not. The fact is that cursing, uttering obscenities, and ethnic slurs are manifested by fewer than 15% of people with TS. Too often, however, the media seize upon this symptom for its sensational effect. Because milder cases are being diagnosed, the incidence of coprolalia will probably decrease.

4. What causes the symptoms?

The cause has not been established, although current research presents considerable evidence that the disorder stems from the abnormal activity of at least one brain chemical (neurotransmitter) called dopamine. There may be abnormal activity of the receptor for this chemical as well. Undoubtedly, other neurotransmitters, e.g. serotonin, may involved as well.

5. How is TS diagnosed?

A diagnosis is made by observing symptoms and by evaluating the history of their onset. No blood analysis or other type of neurological testing exists to diagnose TS. However, some physicians may wish to order an EEG, MRI, CAT scan, or certain blood tests to rule out other ailments that might be confused with TS. Rating scales are available for assessment of tic severity.

6. What are the first symptoms?

The most common first symptom is a facial tic such as rapidly blinking eyes or twitches of the mouth. Involuntary sounds such as throat clearing and sniffing, or tics of the limbs may be initial signs. For a minority, the disorder begins abruptly with multiple symptoms of movements and sounds.

7. How are tics classified?

Two categories of tics and several other examples are:

Simple:

Motor -- Eye blinking, head jerking, shoulder shrugging and facial grimacing.

Vocal -- Throat clearing, yelping and other noises, sniffing and tongue clicking.

Complex:

Motor -- Jumping, touching other people or things, smelling, twirling about, and only rarely, self-injurious actions including hitting or biting oneself.

Vocal -- Uttering words or phrases out of context and coprolalia (vocalizing socially unacceptable words).

The range of tics or tic-like symptoms that can be seen in TS is very broad. The complexity of some symptoms is often perplexing to family members, friends, teachers and employers who may find it hard to believe that the actions or vocal utterances are involuntary.

8. How is TS treated?

The majority of people with TS are not significantly disabled by their tics or behavioral symptoms, and therefore do not require medication. However, there are medications available to help control the symptoms when they interfere with functioning. The drugs include haloperidol (Haldol), clonidine (Catapres), pimozide (Orap), risperidone (Risperdal), fluphenazine (Prolixin, Permitil), and clonazepam (Klonopin). Drugs such as methylphenidate (Ritalin) and related drugs, and dextroamphetamine (Dexedrine) that are prescribed for ADHD have been described as increasing tics; this is controversial. Recent studies have not found a correlation with the use of these medication and an increase in tics. For obsessive compulsive traits that interfere significantly with daily functioning, fluoxetine (Prozac), clomipramine (Anafranil), sertraline (Zoloft) and paroxetine (Paxil) may be prescribed.

Dosages which achieve maximum control of symptoms vary for each patient and must be gauged carefully by a doctor. The medicine is administered in small doses with gradual increases to the point where there is maximum alleviation of symptoms with minimal side effects. Some of the undesirable reactions to medications are weight gain, muscular rigidity, fatigue, motor restlessness and social withdrawal, most of which can be reduced with specific medications. Some side effects such as depression and cognitive impairment can be alleviated with dosage reduction or a change of medication.

Other types of therapy may also be helpful. Psychotherapy and counseling can assist a person with TS and help his/her family cope, and some behavior therapies can teach the substitution of one tic for another that is more acceptable. The use of relaxation techniques and/or biofeedback may serve to alleviate stress reactions that cause tics to increase.

9. Is it important to treat Tourette Syndrome early?

Yes, especially in those instances when the symptoms are viewed by some people as bizarre, disruptive and frightening. It is also important to consider therapy when the child is concerned over her/his acceptance to peers. Sometimes TS symptoms provoke ridicule and rejection by peers, neighbors, teachers and even casual observers. Parents may be overwhelmed by the strangeness of their child's behavior. The child may be threatened, excluded from activities and prevented from enjoying normal interpersonal relationships. These difficulties may become greater during adolescence -- an especially trying period for young people and even more so for a person coping with a neurological problem. To avoid psychological harm, early diagnosis and treatment are crucial. Moreover, in more serious cases, it is possible to control many of the symptoms with medication.

10. Do all people with TS have associated behaviors in addition to tics?

No, but many do have one or more additional problems which may include:

Obsessions which consist of repetitive thoughts which can become unwanted or bothersome.

Compulsions and Ritualistic Behaviors which occur when a person feels that something must be done over and over and/or in a certain way. Examples include touching an object with one hand after touching it with the other hand to "even things up" or repeatedly checking to see that the flame on the stove is turned off. Children sometimes beg their parents to repeat a sentence many times until it "sounds right." Repetitive copying and erasing of work in school can be quite disabling.

Attention Deficit Disorder with or without Hyperactivity
(ADD or ADHD) occurs in many people with TS. Children may show signs of hyperactivity before TS symptoms appear. Indications of ADHD may include: difficulty with concentration; failing to finish what is started; not listening; being easily distracted; often acting before thinking; shifting constantly from one activity to another; needing a great deal of supervision; and general fidgeting. Adults too may exhibit signs of ADHD such as overly impulsive behavior and concentration difficulties and the need to move constantly. ADD without hyperactivity includes all of the above symptoms except for the high level of activity. As children with ADHD mature, the need to move is more likely to be expressed by restless, fidgety behavior. Difficulties with concentration and poor impulse control may persist.

Learning Disabilities may include reading and writing difficulties, problems with mathematics, and perceptual problems.

Difficulties with impulse control which may result, in rare instances, in overly aggressive behaviors or socially inappropriate acts. Also, defiant and angry behaviors can occur.

Sleep Disorders are fairly common among people with TS. These include difficulty getting to sleep, frequent awakenings or walking or talking in one's sleep.

11. Do students with TS have special educational needs?

While school children with TS as a group have the same IQ range as the population at large, many have special educational needs. Data show that many may have some kind of learning problem. That condition, combined with attention deficits and the difficulty coping with frequent tics, often call for special educational assistance. The use of tape recorders, typewriters, or computers for reading and writing problems, un-timed exams (in a private room if vocal tics are a problem), and permission to leave the classroom when tics become overwhelming are often helpful. Some children need extra help such as access to tutoring in a resource room.

When difficulties in school cannot be resolved, an educational evaluation may be indicated. A resulting identification as "other health impaired" under federal law will entitle the student to an Individual Education Plan (IEP) which addresses specific educational problems in school. Such an approach can significantly reduce the learning difficulties that prevent the young person from performing at his/her potential. The child who cannot be adequately educated in a public school with special services geared to his/her individual needs may be best served by enrollment in a special school or home schooled.

12. Is TS inherited?

Genetic studies indicate that TS is inherited as a dominant gene (or genes) causing different symptoms in different family members. A person with TS has about a 50% chance of passing the gene to one of his/her children with each separate pregnancy. However, that genetic predisposition may express itself as TS, as a milder tic disorder or as obsessive compulsive symptoms with no tics at all. It is known that a higher than normal incidence of milder tic disorders and obsessive compulsive behaviors occur in the families of TS patients.

The sex of the offspring also influences the expression of the gene. The chance that the gene-carrying child of a person with TS will have symptoms is at least three to four times higher for a son than for a daughter. Yet only about 10% of the children who inherit the gene will have symptoms severe enough to ever require medical attention. In some cases TS may not be inherited, and cases such as these are identified as sporadic TS. The cause in these instances is unknown.

13. Is there a cure?

Not yet.

14. Is there ever a remission?

Many people experience marked improvement in their late teens or early twenties. Most people with TS get better, not worse, as they mature, and those diagnosed with TS have a normal life span. As many as 1/3 of patients experience remission of tic symptoms in adulthood.

15. How many people in the U.S. have TS?

Since many people with TS have yet to be diagnosed, there are no absolute figures. The official estimate by the National Institutes of Health is that 100,000 Americans have full-blown TS. Some genetic studies suggest that the figure may be as high as one in two hundred if those with chronic multiple tics and/or transient childhood tics are included in the count.

16. What is the history of TS?

In 1825 the first case of TS was reported in medical literature with a description of the Marquise de Dampierre, a noblewoman whose symptoms included involuntary tics of many parts of her body and various vocalizations including coprolalia and echolalia. Later, Dr. Georges Gilles de la Tourette, the French neurologist for whom the disorder is named, first described nine cases in 1885. Samuel Johnson, the lexicographer, and Andre Malraux, the French author, are among the famous people who are thought to have had TS.

17. What is the current focus of research?

Since 1984, the TSA has directly funded important research investigations in a number of scientific areas relevant to TS. Recently, studies have intensified to understand how the disorder is transmitted from one generation to the next, and researchers are working toward locating the gene marker for TS. That focus has been enhanced by the efforts of a TSA- supported international group of scientists who have formed a unique network to share what they know about the genetics of TS and to systematically cooperate to unravel the unknown. Additional insights are being obtained from studies of large families (kindreds) with numerous members who have TS. At the same time, investigators continue to study specific groups of brain chemicals to better understand the syndrome and to identify new and improved medications.

18. What type of services for families exist?

Local TSA affiliates and support groups allow families to exchange ideas and feelings about their common problems. Often family therapy is helpful. Parents of a child with TS have to walk a fine line between understanding and overprotection. They are constantly faced with deciding whether or not certain actions are the expression of TS or just poor behavior. Parents then must determine the appropriate response. For socially unacceptable behavior, a child should be encouraged to control what he/she can whenever possible, and try to substitute what is more socially acceptable. Parents are urged to give their children with TS the opportunity for as much independence as possible, while gently but firmly limiting attempts by some children to use their symptoms to control those around them.

19. What is the Tourette Syndrome Association?

TSA, founded in 1972, is the only national voluntary non-profit membership organization dedicated to:
Identifying the cause;
Finding the cure; and
Controlling the effects of TS.

Members include individuals with the disorder, their relatives and other interested, concerned people. The Association develops and disseminates educational material to individuals, professionals and to agencies in the fields of health care, education and government; coordinates support services to help people and their families cope with the problems that occur with TS; funds research that will ultimately find the cause of and cure for TS and, at the same time, lead to improved medications and treatments.

TSA also:
Offers direct help to TS families in crisis situations through its Information and Referral Service

Organizes workshops and symposiums for scientists, clinicians and others working in the field of TS

Promotes public awareness and understanding

Develops and maintains state-by-state lists of doctors who can diagnose and treat TS, as well as medical referrals in other countries; lists of allied professionals (psychologists, social workers) by state; ABA lists of pro-bono attorneys by state; advocate lists by state; and lists of health insurance resources by state.

Sponsors the Tourette Syndrome Brain Bank Program involving collection of sorely needed tissue for scientific research

Serves many thousands of members throughout the USA and abroad

Increases the knowledge and sensitivity of health care professionals to TS through exhibits at conferences, the dissemination of literature and the organization of national meetings

Organizes and assists local chapters and support groups throughout the US and around the world

Represents the interests of members to the government on critical policy issues including orphan drugs, health insurance and employment

20. Why become a member of TSA?
To help reduce stigma by supporting TSA in its efforts to increase public understanding of TS symptoms

To help bring about the early identification and proper treatment of TS

To receive the quarterly TSA Newsletter containing the latest information on treatment, research programs and scientific discoveries

To join other families at meetings to discuss common problems and offer mutual support

To obtain discounts on publications

To support TSA advocacy programs

To become eligible for discounted registration fees at TSA National Conferences

To help conquer Tourette Syndrome

The Tourette Syndrome Association has publications and videos that discuss in detail many of the topics touched upon on this page. Visit our online store

The above questions and answers are intended to provide basic information about TS. They are not intended to, nor do they constitute medical advice. Readers are warned against changing medical schedules or life activities based on this information without first consulting a physician.

Our programs of research, professional and public education, and family services are made possible through the generosity of our donors.

Tay-Sachs Disease Information

2008-08-02T19:04:00.000-07:00

A healthy baby is able to develop vision, movement, hearing, and other vital functions, in part, because enzymes clear out fatty protein and other unwanted material that can interfere with growth.

But a baby with Tay-Sachs disease is born without one of those important enzymes, called Hexosaminidase A (Hex A). So, as those fatty proteins build up in the brain, they hurt the baby's sight, hearing, movement, and mental development.

A child can only get Tay-Sachs by inheriting it. The genetic trait is relatively common among certain ethnic groups, such as Ashkenazi Jews. Because the disease can be detected before a child is born, couples in those ethnic groups who are thinking of having children may want to get a blood test to find out whether their child would be likely to have the disease.
Who Is at Risk for Tay-Sachs?

Each year, about 16 cases of Tay-Sachs are diagnosed in the United States. Although Ashkenazi Jews (Jews of central and eastern European descent) are at the highest risk for the disease, it is now also prevalent in non-Jewish populations, including people of French-Canadian/Cajun heritage.

Some people carry the genetic mutation that causes Tay-Sachs, but do not develop the full-blown disease. Among Ashkenazi Jews, one in 27 people are carriers. In the general population, one in 250 people are carriers.

A child can only have Tay-Sachs disease if both parents are carriers of the gene. When two carriers have a child together, there's a:
50% chance that their child will be a carrier, but not have the disease
25% chance that their child will not be a carrier and not have the disease
25% chance that their child will have the disease
Screening for Tay-Sachs Disease

Couples who are considering having children - or are already expecting - can get screened for the Tay-Sachs gene with a simple blood test. If both the mother and father carry the Tay-Sachs gene, an obstetrician/gynecologist may refer the couple to a genetic counselor for more information.
Prenatal Diagnosis of Tay-Sachs Disease

Pregnant mothers can have their unborn babies screened for the Hex A deficit that causes Tay-Sachs disease. (If the tests do not detect Hex A, the infant will have Tay-Sachs disease. If the tests do detect Hex A, the infant won't have it.)

Between the 10th and 12th weeks of pregnancy, an expectant mother can get a chorionic villus sampling, or CVS, in which a small sample of the placenta is drawn into a needle or a small tube for analysis.

Between the 15th and 18th weeks of pregnancy, the mother can also have an amniocentesis to screen for the Tay-Sachs gene. In this test, a needle is inserted into the mother's belly to draw a sample of the amniotic fluid that surrounds the fetus.
What Are the Signs and Symptoms of Tay-Sachs?

A child is usually tested for Tay-Sachs after he or she starts having hearing, sight, and movement problems. A doctor can identify the disease with a physical exam and blood tests.

A baby born with Tay-Sachs develops normally in the first 3 to 6 months of life. During the next months - or even years - the baby will progressively lose the ability to see, hear, and move. A red spot will develop in the back of the child's eyes. The child will stop smiling, crawling, turning over, and reaching out for things. By the age of 2, the child may have seizures and become completely disabled. Death usually occurs by the time the child is 5 years old.

In rare forms of the disease, a child may have the Hex A enzyme, but not enough of it to prevent developmental problems. In one of these forms, called Juvenile Hex A Deficiency, those problems may not appear until the child is 2 to 5 years old. The disease progresses more slowly, but death usually occurs by the time the child is 15 years old. In another, milder form of Tay-Sachs, the disease causes muscle weakness and slurred speech, but sight, hearing, and mental capabilities remain intact.
Helping a Child With Tay-Sachs

There is no cure for any form of Tay-Sachs disease. But doctors may be able to help your child cope with the symptoms of the disease by prescribing medication to relieve pain, manage seizures, and control muscle spasticity.

Researchers are studying ways to improve treatment for Tay-Sachs disease and screening methods for the disease.

If your child has been diagnosed with Tay-Sachs or both you and your partner are carriers of the gene, talk to your child's doctor or a genetic counselor about ongoing research. You may also want to seek support from a group such as the National Tay-Sachs and Allied Diseases Foundation or the March of Dimes Birth Defects Foundation.

Reviewed by: Louis E. Bartoshesky, MD, MPH

Rett Syndrome Information

2008-07-22T23:04:00.000-07:00

Rett syndrome is a childhood neurodevelopmental disorder characterized by normal early development followed by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, gait abnormalities, seizures, and mental retardation. It affects females almost exclusively.

The disorder was identified by Dr. Andreas Rett, an Austrian physician who first described it in a journal article in 1966. It was not until after a second article about the disorder was published in 1983 that the disorder was generally recognized.

The course of Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Before the symptoms begin, however, the child appears to grow and develop normally. Then, gradually, mental and physical symptoms appear. Hypotonia (loss of muscle tone) is usually the first symptom. As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak. Other early symptoms may include problems crawling or walking and diminished eye contact. The loss of functional use of the hands is followed by compulsive hand movements such as wringing and washing. The onset of this period of regression is sometimes sudden.

Another symptom, apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.

Individuals with Rett syndrome often exhibit autistic-like behaviors in the early stages. Other symptoms may include toe walking; sleep problems; wide-based gait; teeth grinding and difficulty chewing; slowed growth; seizures; cognitive disabilities; and breathing difficulties while awake such as hyperventilation, apnea (breath holding), and air swallowing.

What are the stages of the disorder?

There are four stages of Rett syndrome. Stage I, called early onset, generally begins between 6 and 18 months of age. Quite frequently, this stage is overlooked because symptoms of the disorder may be somewhat vague, and parents and doctors may not notice the subtle slowing of development at first. The infant may begin to show less eye contact and have reduced interest in toys. There may be delays in gross motor skills such as sitting or crawling. Hand-wringing and decreasing head growth may occur, but not enough to draw attention. This stage usually lasts for a few months but can persist for more than a year.

Stage II, or the rapid destructive stage, usually begins between ages 1 and 4 and may last for weeks or months. This stage may have either a rapid or a gradual onset as purposeful hand skills and spoken language are lost. The characteristic hand movements begin to emerge during this stage and often include wringing, washing, clapping, or tapping, as well as repeatedly moving the hands to the mouth. Hands are sometimes clasped behind the back or held at the sides, with random touching, grasping, and releasing. The movements persist while the child is awake but disappear during sleep. Breathing irregularities such as episodes of apnea and hyperventilation may occur, although breathing is usually normal during sleep. Some girls also display autistic-like symptoms such as loss of social interaction and communication. General irritability and sleep irregularities may be seen. Gait patterns are unsteady and initiating motor movements can be difficult. Slowing of head growth is usually noticed during this stage.

Stage III, also called the plateau or pseudo-stationary stage, usually begins between ages 2 and 10 and can last for years. Apraxia, motor problems, and seizures are prominent during this stage. However, there may be improvement in behavior, with less irritability, crying, and autistic-like features. An individual in stage III may show more interest in her surroundings, and her alertness, attention span, and communication skills may improve. Many girls remain in this stage for most of their lives.

The last stage, stage IV — called the late motor deterioration stage — can last for years or decades and is characterized by reduced mobility. Muscle weakness, rigidity (stiffness), spasticity, dystonia (increased muscle tone with abnormal posturing of extremity or trunk), and scoliosis (curvature of the spine) are other prominent features. Girls who were previously able to walk may stop walking. Generally, there is no decline in cognition, communication, or hand skills in stage IV. Repetitive hand movements may decrease, and eye gaze usually improves.

What causes Rett syndrome?

Rett syndrome is caused by mutations (structural alterations or defects) in the MECP2 (pronounced meck-pea-two) gene, which is found on the X chromosome (see section on "Who gets Rett syndrome" for a discussion of the importance of the involvement of the X chromosome). Scientists identified the gene — which is believed to control the functions of several other genes — in 1999. The MECP2 gene contains instructions for the synthesis of a protein called methyl cytosine binding protein 2 (MeCP2), which acts as one of the many biochemical switches that tell other genes when to turn off and stop producing their own unique proteins. Because the MECP2 gene does not function properly in those with Rett syndrome, insufficient amounts or structurally abnormal forms of the protein are formed. The absence or malfunction of the protein is thought to cause other genes to be abnormally expressed, but this hypothesis has not yet been confirmed.

Seventy to 80 percent of girls given a diagnosis of Rett syndrome have the MECP2 genetic mutation detected by current diagnostic techniques. Scientists believe the remaining 20 to 30 percent of cases may be caused by partial gene deletions, by mutations in other parts of the gene, or by genes that have not yet been identified; thus, they continue to search for other mutations.

Is Rett syndrome inherited?

Although Rett syndrome is a genetic disorder — resulting from a faulty gene or genes — less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are sporadic, which means the mutation occurs randomly, mostly during spermatogenesis, and is not inherited.

Who gets Rett syndrome?

Rett syndrome affects one in every 10,000 to 15,000 live female births. It occurs in all racial and ethnic groups worldwide. Prenatal testing is available for families with an affected daughter who has an identified MECP2 mutation. Since the disorder occurs spontaneously in most affected individuals, however, the risk of a family having a second child with the disorder is less than 1 percent.

Genetic testing is also available for sisters of girls with Rett syndrome and an identified MECP2 mutation to determine if they are asymptomatic carriers of the disorder, which is an extremely rare possibility.

Girls have two X chromosomes, but only one is active in any given cell. This means that in a child with Rett syndrome only about half the cells in the nervous system will use the defective gene. Some of the child's brain cells use the healthy gene and express normal amounts of the proteins.

The story is different for boys who have an MECP2 mutation known to cause Rett syndrome in girls. Because boys have only one X chromosome they lack a back-up copy that could compensate for the defective one, and they have no protection from the harmful effects of the disorder. Boys with such a defect die shortly after birth.

Different types of mutations in the MECP2 gene can cause mental retardation in boys.

How is Rett syndrome diagnosed?

Doctors diagnose Rett syndrome by observing signs and symptoms during the child's early growth and development, and conducting ongoing evaluations of the child's physical and neurological status. Recently, scientists developed a genetic test to confirm the clinical diagnosis of this disorder; the test involves searching for the MECP2 mutation on the child's X chromosome. Given what we know about the genes involved in Rett syndrome, such tests are able to confirm a clinical diagnosis in up to 80 percent of all cases.

Some children who have Rett syndrome-like characteristics or MECP2 genetic mutations do not fulfill the diagnostic criteria for the syndrome as defined below. These persons are described as having "atypical" or "variant" Rett syndrome. Atypical cases account for about 15 percent of the total number of diagnosed cases.

A pediatric neurologist or developmental pediatrician should be consulted to confirm the clinical diagnosis of Rett syndrome. The physician will use a highly specific set of guidelines that are divided into three types of clinical criteria: essential, supportive, and exclusion. The presence of any of the exclusion criteria negates a diagnosis of "classic" or "typical" Rett syndrome.

Examples of essential diagnostic criteria or symptoms include having apparently normal development until between the ages of 6 and 18 months and having normal head circumference at birth followed by a slowing of the rate of head growth with age (between 3 months and 4 years). Other essential diagnostic criteria include severely impaired expressive language, repetitive hand movements, shaking of the torso, and toe-walking or an unsteady, wide-based, stiff-legged gait.

Supportive criteria are not required for a diagnosis of Rett syndrome but may occur in some patients. In addition, these symptoms — which vary in severity from child to child — may not be observed in very young girls but may develop with age. A child with supportive criteria but none of the essential criteria does not have Rett syndrome. Supportive criteria include breathing difficulties; electroencephalogram (EEG) abnormalities; seizures; muscle rigidity, spasticity, and/or joint contracture which worsen with age; scoliosis; teeth-grinding; small feet in relation to height; growth retardation; decreased body fat and muscle mass (although there may be a tendency toward obesity in some affected adults); abnormal sleep patterns, irritability, or agitation; chewing and/or swallowing difficulties; poor circulation of the lower extremities with cold and bluish-red feet and legs; decreased mobility with age; and constipation.

In addition to the essential diagnostic criteria, a number of specific conditions enable physicians to rule out a diagnosis of Rett syndrome. These are referred to as exclusion criteria. Children with any one of the following criteria do not have Rett syndrome: enlargement of body organs or other signs of storage disease, vision loss due to retinal disorder or optic atrophy, microcephaly at birth, an identifiable metabolic disorder or other inherited degenerative disorder, an acquired neurological disorder resulting from severe infection or head trauma, evidence of growth retardation in utero, or evidence of brain damage acquired after birth.

Why are some cases more severe than others?

The course and severity of Rett syndrome vary from individual to individual. Some girls have symptoms from birth onward, while others may have late regression or milder symptoms.

Because females have two copies of the X chromosome and need only one working copy for genetic information, they turn off the extra X chromosome in a process called X inactivation. This process occurs randomly so that each cell is left with one active X chromosome. The severity of Rett syndrome in girls is in part a function of the percentage of cells with a normal copy of the MECP2 gene after X inactivation takes place: if X inactivation turns off the X chromosome that is carrying the defective gene in a large proportion of cells, the symptoms will be mild, but if a larger percentage of cells have the X chromosome with the normal MECP2 gene turned off, onset of the disorder may occur earlier and the symptoms may be more severe.

Is treatment available?

There is no cure for Rett syndrome. Treatment for the disorder is symptomatic — focusing on the management of symptoms — and supportive, requiring a multidisciplinary approach. Medication may be needed for breathing irregularities and motor difficulties, and antiepileptic drugs may be used to control seizures. There should be regular monitoring for scoliosis and possible heart abnormalities. Occupational therapy (in which therapists help children develop skills needed for performing self-directed activities — occupations — such as dressing, feeding, and practicing arts and crafts), physiotherapy, and hydrotherapy may prolong mobility. Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs to help them maintain adequate weight. Special academic, social, vocational, and support services may also be required in some cases.

What is the outlook for those with Rett syndrome?

Despite the difficulties with symptoms, most individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, very little is known about long-term prognosis and life expectancy. While it is estimated that there are many middle-aged women (in their 40s and 50s) with the disorder, not enough women have been studied to make reliable estimates about life expectancy beyond age 40.

What research is being done?

Within the Federal Government, the National Institute of Neurological Disorders and Stroke (NINDS) and the National Institute of Child Health and Human Development (NICHD), two of the National Institutes of Health (NIH), support clinical and basic research on Rett syndrome. Understanding the cause of this disorder is necessary for developing new therapies to manage specific symptoms, as well as for providing better methods of diagnosis. The discovery of the Rett syndrome gene in 1999 provides a basis for further genetic studies and enables the use of recently developed animal models such as transgenic mice.

One NINDS-supported study is looking for mutations in the MECP2 gene of individuals with Rett syndrome to find out how the MeCP2 protein functions. Information from this study will increase understanding of the disorder and may lead to new therapies.

Scientists know that lack of a properly functioning MeCP2 protein disturbs the function of mature brain cells but they do not know the exact mechanisms by which this happens. Investigators are also trying to find other genetic mutations that can cause Rett syndrome and other genetic switches that operate in a similar way to the MeCP2 protein. Once they discover how the protein works and locate similar switches, they may be able to devise therapies that can substitute for the malfunctioning switch. Another outcome might involve manipulating other biochemical pathways to compensate for the malfunctioning MECP2 gene, thus preventing progression of the disorder.

Where can I get more information?

For more information on neurological disorders or research programs funded by the National Institute of Neurological Disorders and Stroke, contact the Institute's Brain Resources and Information Network (BRAIN) at:

BRAIN
P.O. Box 5801
Bethesda, MD 20824
(800) 352-9424
http://www.ninds.nih.gov

Information also is available from the following organizations:International Rett Syndrome Foundation
4600 Devitt Drive
Cincinnati, OH 45246
admin@rettsyndrome.org
http://www.rettsyndrome.org
Tel: 513-874-3020

Easter Seals
230 West Monroe Street
Suite 1800
Chicago, IL 60606-4802
info@easterseals.com
http://www.easterseals.com
Tel: 312-726-6200 800-221-6827
Fax: 312-726-1494

National Institute of Child Health and Human Development (NICHD)
National Institutes of Health, DHHS
31 Center Drive, Rm. 2A32 MSC 2425
Bethesda, MD 20892-2425
http://www.nichd.nih.gov
Tel: 301-496-5133
Fax: 301-496-7101

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

Prader-Willi syndrome Information

2008-07-22T22:55:00.000-07:00

Prader-Willi Syndrome is the most common genetic cause of life-threatening obesity in children.

People with Prader-Willi syndrome have a problem in their hypothalamus, a part of the brain that normally controls feelings of fullness or hunger. As a result, they never feel full and have a constant urge to eat that they cannot control.

Most cases of Prader-Willi syndrome result from a spontaneous genetic error in genes on chromosome 15 that occurs at conception. In very rare cases, the mutation is inherited.
What are the symptoms of Prader-Willi syndrome?
There are generally two stages of symptoms for people with Prader-Willi syndrome:
Stage 1--As newborns, babies with Prader-Willi can have low muscle tone, which can affect their ability to suck properly. As a result, babies may need special feeding techniques to help them eat, and infants may have problems gaining weight. As these babies grow older, their strength and muscle tone usually get better. They meet motor milestones, but are usually slower in doing so.
Stage 2--Between the ages of 1 and 6 years old, the disorder changes to one of constant hunger and food seeking. Most people with Prader-Willi syndrome have an insatiable appetite, meaning they never feel full. In fact, their brains are telling them they are starving. They may have trouble regulating their own eating and may need external restrictions on food, including locked kitchen and food storage areas.

This problem is made worse because people with Prader-Willi syndrome use fewer calories than those without the syndrome because they have less muscle mass. The combination of eating massive amounts of food and not burning enough calories can lead to life-threatening obesity if the diet is not kept under strict control.

There are other symptoms that may affect people with Prader-Willi, including:
Behavioral problems, usually during transitions and unanticipated changes, such as stubbornness or temper tantrums
Delayed motor skills and speech due to low muscle tone
Cognitive problems, ranging from near normal intelligence to mild mental retardation; learning disabilities are common
Repetitive thoughts and verbalizations
Collecting and hoarding of possessions
Picking at skin
Low sex hormone levels

Prader-Willi syndrome is considered a spectrum disorder, meaning not all symptoms will occur in everyone affected and the symptoms may range from mild to severe.

People with Prader-Willi often have some mental strengths as well, such as skills in jigsaw puzzles. If obesity is prevented, people with the syndrome can live a normal lifespan.
What are the treatments for Prader-Willi syndrome?
Prader-Willi syndrome cannot be cured. But, early intervention can help people build skills for adapting to the disorder. Early diagnosis can also help parents learn about the condition and prepare for future challenges. A health care provider can do a blood test to check for Prader-Willi syndrome.

Exercise and physical activity can help control weight and help with motor skills. Speech therapy may be needed to help with oral skills.

Human growth hormone has been found to be helpful in treating Prader-Willi syndrome. It can help to increase height, decrease body fat, and increase muscle mass. However, no medications have yet been found to control appetite in those with Prader-Willi.

PKU (Phenylketonuria) Disease Information

2008-07-21T20:09:00.000-07:00

KU (phenylketonuria) is an inherited disorder of body chemistry that, if untreated, causes mental retardation. Fortunately, through routine newborn screening, almost all affected newborns are diagnosed and treated early, allowing them to grow up with normal intelligence.

At least 1 baby in 25,000 is born with PKU in the United States (1). The disorder occurs in all ethnic groups, although it is more common in individuals of Northern European and Native American ancestry than in those of African-American, Hispanic and Asian ancestry.

What is PKU?
Individuals with PKU cannot process a part of protein called phenylalanine, which is present in most foods. Because of a genetic abnormality, affected individuals lack or have very low levels of an enzyme (phenylalanine hydroxylase or PAH) that converts phenylalanine to other substances the body needs. Without treatment, phenylalanine builds up in the bloodstream and causes brain damage and mental retardation.

How does PKU affect a child?
Children born with PKU appear normal for the first few months. If untreated, by 3 to 6 months they begin to lose interest in their surroundings. By the time they are 1 year old, they appear obviously developmentally delayed. Children with untreated PKU often are irritable and have behavioral problems. They may have a musty odor about them, and they may have dry skin, rashes or seizures. They usually are physically well developed and tend to have blonder hair than their siblings.

Who gets PKU?
Genes come in pairs. To inherit PKU, a child must receive two abnormal PAH genes (that regulate the production of the enzyme), one from each parent who has a mutation (change) in one PAH gene. A parent who has one abnormal PAH gene is called a "carrier." A carrier has one normal PAH gene and one PAH gene that contains a mutation. A carrier's health is not affected in any known way.

When both parents are carriers, there is:
A 1-in-4 (25 percent) chance that both will pass one abnormal PAH gene on to a child, causing the child to be born with PKU.
A 2-in-4 (50-50) chance that the baby will inherit one abnormal PAH gene from one parent and the normal gene from the other, making it a carrier like its parents.
A 1-in-4 (25 percent) chance that both parents will pass on the normal gene. The baby will neither have the disease nor be a carrier.

These chances are the same for each pregnancy.

Are all babies tested for PKU?
All states and U.S. territories screen for PKU. Babies are tested before they leave the hospital. The PKU test was the nation's first newborn screening test. Developed with the help of the March of Dimes, the test has been routinely administered since the 1960s, sparing thousands of children from mental retardation (2).

How is the test done?
The baby's heel is pricked, and a few drops of blood are taken. (The same blood sample can be used to screen for a number of other inborn errors of body chemistry.) The blood sample generally is sent to a regional medical laboratory to find out if it has more than a normal amount of phenylalanine. Findings are sent to the health care professional responsible for the baby's care. If results are abnormal, more tests are done to determine whether the baby has PKU or if there is some other cause of high phenylalanine levels.

Occasionally, a case of PKU can be missed when the test is performed before 24 hours of age. For this reason, some experts recommend that infants whose initial test was taken within the first 24 hours of life be tested again at 1-2 weeks of age (3).

Can PKU symptoms be prevented?
Yes. Mental retardation can be prevented if the baby is treated with a special diet that is low in phenylalanine. This diet should be started as soon as possible after birth, ideally within the first seven to 10 days of life (2).

At first, the baby is fed a special formula that contains protein but no phenylalanine. Breast milk or infant formula is used sparingly to supply only as much phenylalanine as the baby needs and can tolerate. Later, certain vegetables, fruits, some grain products (for example, certain cereals and noodles) and other low-phenylalanine foods are added to the diet. No regular milk, cheese, eggs, meat, fish and other high protein foods are ever allowed. Because protein is essential for normal growth and development, the child must continue to have one of the special formulas that is high in protein and essential nutrients, but contains little or no phenylalanine. Diet drinks and foods that contain the artificial sweetener aspartame (which contains phenylalanine and is sold as Nutrasweet or Equal) must be strictly avoided.

Children and adults with PKU require follow-up care at a medical center or clinic that specializes in this disorder. The diet for each person must be individualized, depending upon how much phenylalanine can be tolerated. All affected persons need regular blood tests to measure phenylalanine levels. Testing for babies may be as frequent as once a week for the first year of life, and then once or twice a month throughout childhood.

Individuals with PKU must remain on a restricted diet throughout childhood and adolescence and generally for life (although some relaxation of the diet may be possible as the person ages) (2). Until the 1980s, health care providers believed that children with PKU could safely discontinue their special diet around age 6 when brain growth was completed. However, studies since then have found that discontinuance of the diet before age 8 can lead to a decrease in IQ, and discontinuance after age 12 may lead to learning disabilities and behavioral problems (2, 4).

Parents of children with PKU and affected adults should discuss their diet and treatment questions with health care professionals at a PKU clinic.

What is maternal PKU?
There are an estimated 3,000 women of childbearing age with successfully treated PKU in the United States (5). Most discontinued their special diet in childhood because, at that time, most doctors believed it was safe to do so.

If these young women are eating a normal diet, their blood phenylalanine levels are very high when they become pregnant. During pregnancy, high blood levels of phenylalanine in the mother can cause serious problems in the fetus. About 90 percent of their babies will have mental retardation, and about 70 percent will have a small head size (microcephaly) (6). Many will have heart defects and low birthweight. Because most of these babies do not inherit PKU, but are suffering from brain damage caused by their mothers' high phenylalanine levels during pregnancy, they cannot be helped by the PKU diet.

Fortunately, there is a way to help prevent mental retardation and other problems in babies of women with PKU. Women with PKU need to resume their special diets at least three months before pregnancy and continue the diet throughout pregnancy. The Maternal PKU International Study found that women whose blood phenylalanine levels were under control before conception, or by 8 to ten weeks of pregnancy at the latest, were as likely to have healthy babies as women without PKU (7). At age 7, the IQs of their children did not differ from those of children of women without PKU (7). Women with PKU need at least weekly blood tests throughout pregnancy to make sure blood phenylalanine levels are not too high.

The March of Dimes urges all women who know or suspect that they were treated for PKU as children to contact their health care provider or clinic before they attempt to conceive, so that their blood phenylalanine levels can be measured and they can begin the special diet, if necessary.

Occasionally, a woman has undiagnosed PKU that can pose a risk to her baby. These women, who generally were not screened as newborns, usually are slightly affected, and may be diagnosed only following the birth of a baby with PKU-related birth defects. In order to help prevent these birth defects, some doctors recommend screening women who may be at risk of PKU, such as those with a family history of the disorder, so that affected women can start the PKU diet before pregnancy.

Can drugs be used to manage PKU?
In December 2007, the Food and Drug Administration (FDA) approved Kuvan (sapropterin dihydrocholoride), the first drug to help manage PKU (8). The drug helps reduce blood phenylalanine levels in individuals with PKU by increasing the activity of the PAH enzyme.

Kuvan is effective only in individuals who have some PAH activity. Individuals who take this drug must continue to follow a phenylalanine-restricted diet and have blood tests to measure phenylalanine levels.

What is new in PKU research?
Researchers continue to study the long-term outcome for children who were born from treated maternal PKU pregnancies to determine whether there is an increased risk of learning disabilities, especially among children whose mothers' blood phenylalanine levels were not well controlled in the early weeks of pregnancy.

Researchers also are studying the benefits of a nutritional supplement called BH4 in individuals with PKU. Others are developing a genetically engineered version of the missing enzyme. Both approaches eventually may allow affected individuals to eat a diet that approximates normal. Researchers also are exploring the possibility of treating PKU using gene therapy.

For more information
Children's PKU Network
3790 Via De La Valle, Suite 120
Del Mar, CA 92014
Phone: (800) 377-6677
E-mail: pkunetwork@aol.com

References
American College of Medical Genetics. Newborn Screening: Toward a Uniform Screening Panel and System. Final Report, 3/8/05.
National Institutes of Health Consensus Development Statement. Phenylketonuria: Screening and Management. Washington, D.C., October 16-18, 2000.
Kaye, C.I. and the American Academy of Pediatrics Committee on Genetics. Newborn Screening Fact Sheets. Pediatrics, volume 118, 2006, e934-963.
Mitchell, J.J. and Scriver, C.R. Phenylalanine Hydroxylase Deficiency. Gene Reviews, updated 3/29/07.
American College of Obstetricians and Gynecologists (ACOG) Committee on Genetics. Maternal Phenylketonuria. Committee Opinion, number 230, January 2000, reaffirmed 2004.
Koch, R., and de la Cruz, F. The Maternal Phenylketonuria Collaborative Study: New Developments and the Need for New Strategies—Preface. Pediatrics, volume 112, number 6, part 2, December 2003, page 1513.
Koch, R., et al. The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics, volume 112, number 6, part 2, December 2003, pages 1523-1529.
Food and Drug Administration (FDA). FDA Approves Kuvan for Treatment of Phenylketonuria (PKU), December 13, 2007.

Ehlers-Danlos Syndrome Information

2008-07-21T20:02:00.000-07:00

Ehlers-Danlos syndrome is a rare disorder of connective tissue that results in unusually flexible joints, very elastic skin, and fragile tissues.

This syndrome is caused by a defect in one of the genes that controls the production of connective tissue.
Typical symptoms include flexible joints, a humpback, flat feet, and elastic skin.
The diagnosis is based on symptoms and results of a physical examination.
Most people with this syndrome have a normal life span.
There is no cure for Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome is caused by an abnormality in one of the genes that controls the production of connective tissue. There are several variants (with widely varying severity) affecting different genes and causing slightly different changes. The result is abnormally fragile connective tissue, which causes problems in joints and bones and may weaken internal organs.

Children with Ehlers-Danlos syndrome usually have very flexible joints. Some develop small, hard, round lumps under the skin; a humpback with an abnormal curve of the spine (kyphoscoliosis); or flat feet. The skin can be stretched up to several inches but returns to its normal position when released.

Ehlers-Danlos syndrome may alter the body's response to injuries. Minor injuries may result in wide gaping wounds. Although these wounds usually do not bleed excessively, they leave wide scars. Sprains and dislocations develop easily.

In a small number of children with Ehlers-Danlos syndrome, the blood clots poorly. Bleeding from minor wounds may be difficult to stop.

The intestines can bulge through the abdominal wall (hernias), and abnormal outpouchings (diverticula) can develop in the intestine. Rarely, a fragile intestine bleeds or ruptures (perforates).

If a pregnant woman has Ehlers-Danlos syndrome, delivery may be premature. If the fetus has Ehlers-Danlos syndrome, its surrounding membranes may rupture early (premature rupture of membranes). A mother or baby who has Ehlers-Danlos syndrome can bleed excessively before, during, and after delivery.

A doctor bases the diagnosis on the symptoms and results of a physical examination. The doctor can try to confirm the diagnosis of some types of Ehlers-Danlos syndrome by taking a sample of skin to examine under a microscope (biopsy). Genetic and biochemical tests are available at some research centers for some types. Other tests are performed to check for conditions that are associated with complications, such as problems with the heart or blood vessels.

Prognosis and Treatment

Despite the many and varied complications people with Ehlers-Danlos syndrome may have, their life span is usually normal. However, in a few people with one specific type of Ehlers-Danlos syndrome, complications (usually bleeding) are fatal. Genetic counseling for family members is suggested.

Special precautions should be taken to prevent injuries. For example, children with severe forms of Ehlers-Danlos syndrome can wear protective clothing and padding.

There is no way to cure Ehlers-Danlos syndrome or correct the abnormalities in the connective tissue. Injuries can be treated, but it may be difficult for a doctor to stitch cuts because stitches tend to tear out of the fragile tissue. Usually, using an adhesive tape or medical skin glue closes cuts more easily and leaves less scarring.

Surgery requires special techniques that minimize injury and ensure that a large supply of blood is available for transfusion. An obstetrician must supervise pregnancy and delivery.

Last full review/revision February 2008 by Frank Pessler, MD, PhD; David D. Sherry, MD

Osteogenesis imperfecta Disease Information

2008-07-19T20:55:00.000-07:00

Osteogenesis imperfecta (OI) literally means "imperfectly formed bone." People with osteogenesis imperfecta have an error (mutation) in the genetic instructions on how to make strong bones. This may cause the bones to break easily.

Causes

Osteogenesis imperfecta is relatively rare. In some cases, the parent has osteogenesis imperfecta and the condition has been genetically transmitted to the child. But, the child's symptoms and the degree of disability could be very different from that of the parent. In some children, neither parent has osteogenesis imperfecta. In these cases, the genetic defect is a spontaneous mutation.

Diagnosis/Symptoms

Osteogenesis imperfecta is a relatively rare disorder. Ultrasound can often detect severe cases of osteogenesis imperfecta during pregnancy. Genetic testing may be able to identify the mutation, particularly if the parent's mutation is also known. But in many cases, bone fractures that occur with little or no trauma are often the first indication that a person has osteogenesis imperfecta.

In people with osteogenesis imperfecta, one of the genes that tells the body how to make a specific protein is defective. This protein (type I collagen) is a major component of the connective tissues in bones. Type I collagen is also important in forming ligaments, teeth, and the white outer tissue of the eyeballs (sclera).

As a result of the defective gene, not enough type I collagen is produced, or the collagen that is produced is of poor quality. In either case, the result is fragile bones that break easily but can heal at a normal rate.

There are four recognized types of osteogenesis imperfecta, which vary in severity and characteristics. Several other findings are also associated with osteogenesis imperfecta, including short stature, a triangular face, respiratory problems, and hearing loss. Each person with osteogenesis imperfecta may have a different combination of clinical characteristics.
Type I Osteogenesis Imperfecta

Type I osteogenesis imperfecta is the most common and mildest type of this disease. While the structure of the collagen is normal, there is less collagen than there should be. There is little or no bone deformity, although the bones are fragile and easily broken. The effects of osteogenesis imperfecta may extend to the teeth, making them prone to cavities and cracking. The whites of the eyes may have a blue, purple, or gray tint.
Type II Osteogenesis Imperfecta

Type II osteogenesis imperfecta is the most severe form of the disease. The collagen does not form properly. Bones may break even while the fetus is in the womb. Many infants with type II osteogenesis imperfecta are stillborn or die shortly after birth.
Type III Osteogenesis Imperfecta

Type III osteogenesis imperfecta also has improperly formed collagen and often severe bone deformities plus additional complications. The infant is often born with fractures. The whites of the eyes may be white, blue, purple, or gray. People with type III osteogenesis imperfecta are generally shorter than average. They may have spinal deformities, respiratory complications, and brittle teeth.
Type IV Osteogenesis Imperfecta

Type IV osteogenesis imperfecta is moderately severe, with improperly formed collagen. Bones fracture easily, but the whites of the eyes are normal. Some people with type IV osteogenesis imperfecta may be shorter than average and may have brittle teeth. Bone deformities are mild to moderate.

Treatment

While there is no cure for osteogenesis imperfecta, there are opportunities to improve the child's quality of life. Treatment must be individualized and depends on the severity of the disease and the age of the patient. Care is provided by a team of health-care professionals, including several types of doctors, a physical therapist, a nurse-clinician and a social worker.

Nonsurgical Treatment

In most cases, treatment will be nonsurgical.

Medical bisphosphonates, given to the child either by mouth or intravenously, slow down bone resorption. In children with more-severe osteogenesis imperfecta, bisphosphonate treatment often decreases the number of fractures and bone pain. These medications must be administered by properly trained doctors and require close monitoring.

Casting, bracing, or splinting of fractures is necessary to immobilize the bone so that healing can occur. Movement and weight bearing are encouraged as soon as possible after fractures to increase mobility and decrease the risk of future fractures.

Precautions

Here are some tips developed by the Osteogenesis Imperfecta Foundation for dealing with children with osteogenesis imperfecta.
Don't be afraid to touch or hold an infant with osteogenesis imperfecta, but be careful. Never lift a child with osteogenesis imperfecta by holding him or her under the armpits. Do not pull on arms or legs or lift the legs by the ankles to change a diaper. To lift an infant with osteogenesis imperfecta, spread your fingers apart and put one hand between the legs and under the buttocks; place the other hand behind the shoulders, neck and head.
Do not feel guilty if a fracture does occur. Children must develop and fractures will occur no matter how careful you are.
Select an infant car seat that reclines. It should be easy to place or remove the child in the seat. Consider padding the seat with foam and using a layer of foam between the child and the harness.
Be sure your stroller is large enough to accommodate casts. Don't use a sling or umbrella-type stroller.
Follow your doctor's instructions carefully, especially with regard to cast care and mobility exercises. Swimming and walking are often recommended as safe exercises.
Avoid activities such as smoking, drinking and taking steroids because they have a negative impact on bone density.
Increasing awareness of child abuse and a lack of awareness about osteogenesis imperfecta may lead to inaccurate conclusions about a family situation. Always have a letter from your family doctor and a copy of your child's medical records handy.

Surgical Treatment

Repeated fractures of the same bone, deformity, or fractures that do not heal properly are all indications that surgery may be necessary. Metal rods may be inserted in the long bones of the arms and legs. Some rods are a fixed length and must be replaced as the child grows. Other rods are designed like telescopes so they can expand along with the bone growth. However, other complications may occur with telescoping rods. Do not hesitate to ask your orthopaedic surgeon about both options.

In many children with osteogenesis imperfecta, the number of times their bones fracture decreases significantly as they mature. However, osteogenesis imperfecta may become active again after menopause in women or after the age of 60 years in men.

Scoliosis, or curvature of the spine, is a problem for many children with osteogenesis imperfecta. Bracing is the usual treatment for scoliosis, but it is often ineffective in children with osteogenesis imperfecta. Spinal fusion, in which the vertebrae are realigned and fused together, may be recommended to prevent excessive curvature.

Neurofibromatosis Disease Information

2008-07-19T20:47:00.000-07:00

The neurofibromatoses are a group of three genetically distinct but related disorders of the nervous system that cause tumors to grow around the nerves. Tumors begin in the cells that make up the myelin sheath, a thin membrane that envelops and protects nerve fibers, and often spread into adjacent areas. The type of tumor that develops depends on its location in the body and the kind of cells involved. The most common tumors are neurofibromas, which develop in the tissue surrounding peripheral nerves. Most tumors are non-cancerous, although occasionally they become cancerous over time.

Why these tumors occur still isn’t completely known, but it appears to be mainly related to mutations in genes that play key roles in suppressing tumor growth in the nervous system. These mutations keep the genes – identified as NF1 and NF2 – from making specific proteins that control cell production. Without these proteins, cells multiply out of control and form tumors.

An estimated 100,000 Americans have a neurofibromatosis (the singular form of neurofibromatoses) disorder, which occurs in both sexes and in all races and ethnic groups. Scientists have classified the disorders as neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and a type that was once considered to be a variation of NF2 but is now called schwannomatosis.

What is NF1?

NF1 is the most common neurofibromatosis, occurring in 1 in 3,000 to 4,000 individuals in the United States . Although many affected people inherit the disorder, between 30 to 50 percent of new cases occur because of a spontaneous genetic mutation from unknown causes. Once this mutation has taken place, the mutant gene can be passed on to succeeding generations.

What are the signs and symptoms of NF1?

To diagnose NF1, a doctor looks for two or more of the following:
six or more light brown spots on the skin (often called “cafe-au-lait” spots), measuring more than 5 millimeters in diameter in children, or more than 15 millimeters across in adolescents and adults;
two or more neurofibromas, or one plexiform neurofibroma (a neurofibroma that involves many nerves);
freckling in the area of the armpit or the groin;
two or more growths on the iris of the eye (known as Lisch nodules or iris hamartomas);
a tumor on the optic nerve (optic glioma);
abnormal development of the spine (scoliosis), the temple (sphenoid) bone of the skull, or the tibia (one of the long bones of the shin);
a first degree relative (parent, sibling, or child) with NF1.

What other symptoms or conditions are associated with NF1?

Many children with NF1 have larger than normal head circumference and are shorter than average. Hydrocephalus, the abnormal buildup of fluid in the brain, is a possible complication of the disorder. Headache and epilepsy are also more likely in individuals with NF1 than in the normal population. Cardiovascular complications are associated with NF1, including congenital heart defects, high blood pressure (hypertension), and constricted, blocked, or damaged blood vessels (vasculopathy). Children with NF1 may have poor linguistic and visual-spatial skills, and perform less well on academic achievement tests, including those that measure reading, spelling, and math skills. Learning disabilities, such as attention deficit hyperactivity disorder (ADHD), are common in children with NF1.

When do symptoms appear?

Symptoms, particularly the most common skin abnormalities -- café-au-lait spots, neurofibromas, Lisch nodules, and freckling in the armpit and groin -- are often evident at birth or shortly afterwards, and almost always by the time a child is 10 years old. Because many features of these disorders are age dependent, a definitive diagnosis may take several years.

What is the prognosis for someone with NF1?

NF1 is a progressive disorder, which means most symptoms will worsen over time, although a small number of people may have symptoms that stay the same and never get any worse. It isn’t possible to predict the course of any individual’s disorder. In general, most people with NF1 will develop mild to moderate symptoms, and if complications arise they will not be life-threatening. Most people with NF1 have a normal life expectancy.

How is NF1 treated?

Since doctors don’t know how to prevent or stop neurofibromas from growing, surgery is often recommended to remove them. Several surgical options exist, but there is no general agreement among doctors about when surgery should be performed or which surgical option is best. Individuals considering surgery should carefully weigh the risks and benefits of all their options to determine which surgical treatment is right for them. There are also surgical and chemical techniques that can reduce the size of eye tumors (optic gliomas) when vision is threatened. In addition, some bone malformations, such as scoliosis, can be surgically corrected. In the rare instances when tumors become malignant (3 to 5 percent of all cases), treatment may include surgery, radiation, or chemotherapy.

Treatments for other conditions associated with NF1 are aimed at controlling or relieving symptoms. Headache and epileptic seizures are treated with medications. Since there is a higher than average risk for learning disabilities, children with NF1 should undergo a detailed neurological exam before they enter school. Once these children enter school, if teachers or parents suspect there is evidence of a learning disability (or disabilities), they should request an evaluation that includes an IQ test and the standard range of tests to evaluate verbal and spatial skills. Children with learning disabilities are eligible for special education services under the provisions of the Individuals with Disabilities Education Act (IDEA).

What is NF2?

This rare disorder affects about 1 in 40,000 people. NF2 is characterized by slow-growing tumors on the eighth cranial nerve. This nerve has two branches: the acoustic branch helps people hear by transmitting sound sensations to the brain; the vestibular branch helps people maintain their balance. The tumors of NF2, called vestibular schwannomas because of their location and the types of cells that compose them (Schwann cells, which form the myelin sheath around nerves), press against and sometimes even damage the nerves they surround. In some cases they will also damage nearby vital structures such as other cranial nerves and the brainstem, leading to a potentially life-threatening situation.

Individuals with NF2 are at risk for developing other types of nervous system tumors such as spinal schwannomas, which grow within the spinal cord and between the vertebrae, and meningiomas, which are tumors that grow along the membranes covering the brain and spinal cord.

What are the signs and symptoms of NF2?

To diagnose NF2, a doctor looks for the following:
bilateral vestibular schwannomas, or
a family history of NF2 (parent, sibling, or child) plus a unilateral vestibular schwannoma before age 30

or any two of the following:
glioma,
meningioma,
schwannoma,
juvenile posterior subcapsular lenticular opacity (juvenile cortical cataract).

When do symptoms appear?

Signs of NF2 may be present in childhood but are so subtle that they can be overlooked, especially in children who don’t have a family history of the disorder. Typically, symptoms of NF2 are noticed between 18 and 22 years of age. The most frequent first symptom is hearing loss or ringing in the ears (tinnitus). Less often, the first visit to a doctor will be because of disturbances in balance, vision impairment (such as vision loss from cataracts), weakness in an arm or leg, seizures, or skin tumors.

What is the prognosis for someone with NF2?

Because NF2 is so rare, few studies have been done to look at the natural progression of the disorder. The course of NF2 varies greatly among individuals, although inherited NF2 appears to run a similar course among affected family members. Generally, vestibular schwannomas grow slowly, and balance and hearing deteriorate over a period of years. A recent study suggests that an earlier age of onset is associated with faster tumor growth and a greater mortality risk.

How is NF2 treated?

NF2 is best managed at a specialty clinic with an initial screening and annual follow-up evaluations. Improved diagnostic technologies, such as MRI (magnetic resonance imaging), can reveal tumors as small as a few millimeters in diameter, which allows for early treatment. Vestibular schwannomas grow slowly, but they can grow large enough to completely engulf the eighth cranial nerve. Early surgery, to completely remove the tumor while it’s still small, might be advisable to preserve hearing and balance. There are several surgical options, depending on tumor size and the extent of hearing loss. Some techniques preserve the auditory nerve and enable individuals to retain some hearing; other techniques may involve removing the nerve and replacing it with an electronic auditory implant in the brainstem to restore hearing.
Surgery is available to correct cataracts and retinal abnormalities. A strategy of watchful waiting might be more appropriate for slowly growing brain and spinal tumors, which have higher risks of surgical complications.

What is schwannomatosis?

Schwannomatosis is a newly recognized neurofibromatosis that is genetically and clinically distinct from NF1 and NF2. Like NF2 it occurs rarely. Inherited forms of the disorder account for only 15 percent of all cases. Researchers still don’t fully understand what causes the tumors and the intense pain that are characteristics of the disorder.

What are the signs and symptoms of schwannomatosis?

The distinguishing feature of schwannomatosis is the development of multiple schwannomas everywhere in the body except on the vestibular nerve. The dominant symptom is excruciatingly intense pain, which develops when a schwannoma enlarges, compresses nerves, or presses on adjacent tissue. Some people experience additional neurological symptoms, such as numbness, tingling, or weakness in the fingers and toes. Patients with schwannomatosis never have neurofibromas.

About one-third of those with schwannomatosis have tumors limited to a single part of the body, such as an arm, a leg, or a segment of the spine. Some people develop many schwannomas; others develop only a few.

What is the prognosis for someone with schwannomatosis?

Anyone with schwannomatosis experiences some degree of pain, but the intensity varies. A small number of people have such mild pain that they are never diagnosed with the disorder. Most people have significant pain, which can be managed with medications or surgery. In some extreme cases, pain will be so severe and disabling it will keep people from working or leaving the house.

How is schwannomatosis treated?

There is no currently accepted medical treatment or drug for schwannomatosis, but surgical management is often effective. When tumors are completely removed pain usually subsides, although it may recur if new tumors form. When surgery isn’t possible, ongoing monitoring and management of pain in a multidisciplinary pain clinic is advisable.

Are there prenatal tests for the neurofibromatoses?

Clinical genetic testing can confirm the presence of a mutation in the NF1 gene with an accuracy of 95 percent. Some families and doctors may choose to use a genetic test to confirm an uncertain diagnosis when there is no family history of the disorder and when waiting for additional symptoms to appear would put an unnecessary emotional burden on the family. Prenatal testing for the NF1 mutation is also possible using amniocentesis or chorionic villus sampling procedures. Genetic testing for the NF2 mutation is sometimes available but is accurate in only 65 percent of those tested. Genetic counselors can provide information about these procedures and help families cope with the results.

What research is being done on the neurofibromatoses?

The National Institute of Neurological Disorders and Stroke (NINDS), one of the National Institutes of Health (NIH), is the leader in federal funding of research studying neurological diseases. The Institute sponsors basic studies aimed at understanding normal and abnormal development of the brain and nervous system, as well as clinical trials to improve the diagnosis and treatment of neurological disorders. In conjunction with the NIH's National Cancer Institute (NCI), the NINDS supports research focused on finding better ways to prevent, treat, and ultimately cure the neurofibromatosis disorders.

In the mid-1990s, research teams supported by the NINDS located the exact position of the NF1 gene on chromosome 17. The gene has been cloned and its structure continues to be analyzed. The NF1 gene makes a large and complex protein called neurofibromin, which is primarily active in nervous system cells as a regulator of cell division, functioning as a kind of molecular brake to keep cells from over-multiplying. In addition to work on NF1, intensive efforts have led to the identification of the NF2 gene on chromosome 22. As in NF1, the NF2 gene product is a tumor-suppressor protein (termed merlin or schwannomin).

Ongoing NINDS-sponsored research continues to discover additional genes that appear to play a role in tumor suppression or growth. Continuing research on these genes and their proteins is beginning to reveal how this novel family of growth regulators controls how and where tumors form and grow. Understanding the molecular pathways and mechanisms that govern these key proteins and their activities will offer scientists exciting opportunities to design drugs that could replace the missing proteins in people who have the neurofibromatoses and return their cell production to normal.

The NINDS currently supports basic and clinical research to understand how the genetic mutations that cause the benign tumors of NF1 can also cause abnormal development of neurons and neural networks during fetal development. This abnormal development can lead to the learning disabilities and cognitive deficits of children with the disorder.

The NINDS also encourages research aimed at developing improved methods of diagnosing the neurofibromatoses and at identifying factors that contribute to the wide variations of symptoms and severity of the disorders.

Just as important, the NINDS is supporting ongoing research with a large group of children with NF1 to help doctors answer the question that most parents ask when their child is diagnosed with the disorder: “What can we expect when our child goes to school?” Using MRI, which shows brain structure, functional MRI, which shows areas of the brain at work, and neuropsychological tests that measure specific cognitive skills, researchers are looking for associations between brain abnormalities and specific cognitive disabilities. Finding these links would give doctors an indication of the kinds of learning disabilities parents and their children could anticipate in the future and help them develop early intervention programs.

How can I help research?

The NINDS contributes to the support of the Human Brain and Spinal Fluid Resource Center in Los Angeles. This tissue bank supplies investigators around the world with tissue from patients with neurological and other disorders. Tissue from individuals with NF1 or NF2 is needed to enable scientists to study these disorders more intensely. Prospective donors may contact:

Human Brain and Spinal Fluid Resource Center
Neurology Research (127A)
W. Los Angeles Healthcare Center
11301 Wilshire Blvd., Bldg. 212
Los Angeles, CA 90073
310-268-3536
24-hour pager: 310-636-5199
Email: RMNbbank@ucla.edu
http://www.loni.ucla.edu/~nnrsb/NNRSB
top
Where can I get more information?

For more information on neurological disorders or research programs funded by the National Institute of Neurological Disorders and Stroke, contact the Institute's Brain Resources and Information Network (BRAIN) at:

BRAIN
P.O. Box 5801
Bethesda, MD 20824
(800) 352-9424
http://www.ninds.nih.gov

Information also is available from the following organizations:Children's Tumor Foundation
95 Pine Street
16th Floor
New York, NY 10005
info@ctf.org
http://www.ctf.org
Tel: 800-323-7938 212-344-6633
Fax: 212-747-0004

National Cancer Institute (NCI)
National Institutes of Health, DHHS
6116 Executive Boulevard, Ste. 3036A, MSC 8322
Bethesda, MD 20892-8322
cancergovstaff@mail.nih.gov
http://cancer.gov
Tel: 800-4-CANCER (422-6237) 800-332-8615 (TTY)

Neurofibromatosis, Inc. (NF Inc.)
P.O. Box 18246
Minneapolis, MN 55418
nfinfo@nfinc.org
http://www.nfinc.org
Tel: 301-918-4600 800-942-6825
Acoustic Neuroma Association
600 Peachtree Parkway
Suite 108
Cumming, GA 30041
info@anausa.org
http://www.anausa.org
Tel: 770-205-8211 877-200-8211
Fax: 770-205-0239/877-202-0239

International RadioSurgery Association
3002 N. Second Street
Harrisburg, PA 17110
office1@irsa.org
http://www.irsa.org
Tel: 717-260-9808
Fax: 717-260-9809

"Neurofibromatosis Fact Sheet," NINDS.

NIH Publication No. 06-2126

Back to Neurofibromatosis Information Page

See a list of all NINDS Disorders

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

Marfan syndrome Disease Information

2008-07-19T20:40:00.000-07:00

Marfan syndrome is a genetic disorder that affects connective tissue. Connective tissue holds other tissues together throughout the body. Individuals with Marfan syndrome can have signs and symptoms involving the heart, blood vessels, bones and joints, and eyes. Sometimes the lungs and skin are also affected. Marfan syndrome does not affect intelligence. Signs and symptoms of Marfan syndrome can be mild or severe. They may be present at birth or become apparent in childhood or in adult life.

How common is Marfan syndrome?
Marfan syndrome affects about 1 in 5,000 Americans (1, 2). The disorder affects males and females of all races and ethnic groups. The condition is named for Dr. Antoine Marfan who, in 1896, described a 5-year-old girl with unusually long, slender fingers and limbs, and other skeletal abnormalities.

How are individuals with Marfan syndrome affected?
Affected individuals are tall, slender and loose-jointed. Arms, legs, fingers and toes often are unusually long. Some people with Marfan syndrome have low foot arches (flat feet), and others have high arches. Individuals with Marfan syndrome usually have long narrow faces, and their teeth are generally crowded.

Individuals with Marfan syndrome can have one or more of the following problems:
Heart and blood vessel problems: The most serious problem associated with Marfan syndrome is weakness of the wall of the aorta. The aorta is the body's largest artery, which carries oxygen-rich blood from the left side of the heart to the rest of the body. In Marfan syndrome, the wall of the aorta gradually weakens and stretches (aortic dilation) over time. Eventually, this can cause a tear (dissection) in the lining of the aorta. Blood can leak out through the tear into the aortic wall, sometimes resulting in a rupture, allowing blood to leak into the chest or abdomen. These complications, if not detected, can result in sudden death.
Abnormal heart valves: The heart's mitral valve tends to be floppy and billowing (mitral valve prolapse). Heart valves are tiny flaps or gates that keep the blood flowing in one direction through the heart. Differences in the mitral valve can allow blood to briefly flow backwards during a heartbeat (regurgitation). Sometimes this creates an abnormal sound that a health care provider may hear through a stethoscope. Mitral valve prolapse can sometimes be associated with irregular or rapid heartbeat and shortness of breath.
Skeletal abnormalities: Many individuals have a lateral (sideways) curvature of the spine (scoliosis). Sometimes there is a sharp forward curvature (kyphosis). Many individuals have deformities of their breastbone (sternum). These are called pectus deformities. Pectus deformities can sometimes protrude outward and/or inward. Sometimes the connective tissue which surrounds the spinal cord loosens and stretches out (dural ectasia) causing back pain.
Lung problems: Persons with Marfan syndrome are more prone than others to sudden collapse of their lungs (spontaneous pneumothorax). They also may develop respiratory problems and shortness of breath. Respiratory problems can worsen if the individual has severe skeletal abnormalities, which do not allow the chest to fully expand, or emphysema (a breathing disorder usually associated with smoking). Adults with Marfan syndrome are at increased risk of early emphysema, even if they don't smoke.
Eye problems: The lens of one or both eyes is off-center in about 60 percent of persons with Marfan syndrome (1, 2). This is called ectopia lentis. Most affected individuals also are nearsighted and have astigmatism (eyes cannot focus clearly). Individuals with Marfan syndrome are at increased risk of developing cataracts (clouding of the lens of the eye) and glaucoma (an increase of pressure in the eye) at an earlier age than individuals in the general population. Severe nearsightedness can lead to detachment of the retina (the light-sensing lining at the back of the eye). Retinal detachment and glaucoma can lead to vision loss.

Most individuals with Marfan syndrome have one or two of these problems. The severity of effects of Marfan syndrome varies greatly, even within the same family.

How is Marfan syndrome diagnosed?
An evaluation for Marfan syndrome generally includes:
A complete physical examination.
Eye examination by an ophthalmologist (eye doctor). The ophthalmologist uses eye drops to fully dilate the pupils of the eyes and examines them with a slit-lamp (a microscope with a light attached) to look for lens dislocation.
Heart tests, including an electrocardiogram (EKG), which measures electrical activity in the heart, and an echocardiogram. An echocardiogram is a special noninvasive ultrasound examination that lets doctors look for involvement of the heart and blood vessels, which often can't be determined by a physical examination.
Family history, in order to determine if there are other family members known or suspected to have Marfan syndrome, and/or who died early due to an unexplained heart disorder or an aneurysm (bulging of a blood vessel, such as the aorta, sometimes leading to rupture of the blood vessel).
Genetic testing of a blood sample to help confirm the diagnosis, in some cases.
Magnetic resonance imaging (MRI) of the lower spine to look for dural ectasia.

How is Marfan syndrome treated?
Advances in treatment have greatly improved the outlook for children and adults with Marfan syndrome. Today, the life expectancy of individuals with the disorder who receive proper treatment is about 70 years (1).

Most of the problems associated with Marfan syndrome can be managed effectively, as long as they are diagnosed early. The disorder usually is treated by a team of experienced physicians and health care professionals, overseen by a single doctor who knows all of its aspects.

The team of physicians should include a cardiologist (heart doctor). Affected individuals need to have serial (repeated periodically) echocardiograms to measure the dimensions of their aorta and the condition of their heart valves. These and other tests help the doctors determine whether or not treatment is needed, and when intervention should take place.

To help prevent or reduce heart problems, doctors often recommend treatment with high blood pressure medications called beta blockers. These medications reduce the strength and frequency of heartbeats, reducing stress on the wall of the aorta. Studies suggest that beta blockers may slow down the rate of dilation of the aorta and help prevent it from tearing (1, 2).

Strenuous exercise also can place stress on the aorta. Children and adults with Marfan syndrome should avoid strenuous exercise, including collision and contact sports (1, 2). Heavy lifting should be prohibited. With their doctor's guidance, many can still participate in less vigorous activities, such as walking, playing golf, bicycle riding and swimming.

In spite of the use of medication, the aorta sometimes continues to dilate. Doctors will recommend surgery to repair the aorta before there is a danger of its tearing or dissecting. Doctors evaluate information from several sources when considering surgery and planning the timing of surgery.

For example, doctors use accurate measurements of the aorta to help determine the rate at which the aorta is dilating. Family history of others with aortic dilation/dissection also may influence the timing of surgery. Aortic repair also is considered when there is significant leaking of the aortic valve or worsening of the leak over time.

There are a few surgical options for repairing the aorta. In one operation, the surgeon replaces a section of the aorta with a synthetic tube (composite graft) and sometimes repairs or replaces the aortic valve. More recently, some individuals with Marfan syndrome have had what is called a valve-sparing procedure, in which the aortic valve is retained, and a portion of the aorta closest to the heart is replaced. Individuals with Marfan syndrome should have aortic surgery performed at a hospital where the surgeons are experienced with Marfan syndrome. The individuals should discuss the pros and cons of the various surgical options with their surgeon.

Early preventive surgery for aortic dilation is far safer than waiting until emergency surgery is needed. A 1999 study showed that with preventive surgery, the death rate was 1.5 percent vs. 12 percent for patients who had emergency surgery (3).

When necessary, other faulty heart valves also can be surgically repaired or replaced. After any valve replacement surgery, the individual must take anti-clotting medication for life, because blood tends to clot when it comes in contact with artificial valves.

Individuals with heart valve abnormalities, including most people with Marfan syndrome, and those who have had surgery to replace a heart valve or part of the aorta, are prone to heart valve infections. They must be treated with oral antibiotics to prevent infection of the valves before any procedure that may release bacteria into the blood stream. These procedures include dental work such as cleaning, filling and extractions, as well as other kinds of surgery. Individuals with Marfan syndrome should check with the cardiologist before dental procedures to see if additional treatment is recommended, such as a higher dose of antibiotics given by injection.

Sometimes individuals with Marfan syndrome who have had repair of the upper portion of the aorta have enlargement of other parts of their aortas. These individuals need to be followed with serial echocardiograms and a CT scan or MRI scan of the chest, abdomen and pelvis at least yearly. In some cases, surgical repair may be needed.

Children and adolescents with Marfan syndrome are monitored yearly for signs of scoliosis. Many develop mild scoliosis, which may not require treatment. In more severe or progressive cases, scoliosis can cause back pain and shortness of breath. In these cases, a brace or surgery is recommended. Bracing can sometimes halt the progression of scoliosis, although sometimes surgery is needed to correct the deformity. Pectus deformities also can interfere with breathing. Corrective surgery can be performed to alleviate these symptoms.

Children with Marfan syndrome should have a yearly eye examination by an ophthalmologist. Most eye problems, such as nearsightedness, can be corrected with glasses or contact lenses. Early treatment for cataracts and glaucoma usually can prevent or lessen vision problems. Detached retinas can be treated with lasers.

What causes Marfan syndrome?
Marfan syndrome is caused by mutations (changes) in one member of a pair of genes called the fibrillin genes. These genes are located on chromosome 15, one of the 23 pairs of human chromosomes. Normally, the fibrillin gene enables the body to produce fibrillin, a protein that is a crucial component of connective tissue. Fibrillin normally is an abundant component of the connective tissue found in the aorta, in the ligaments that hold the eye's lenses in place, in bones and in the lung. The mutated fibrillin gene, in combination with the action of other genes, leads to the formation of faulty fibrillin.

The mutated fibrillin gene usually is inherited from one parent who has Marfan syndrome. The mutation is a “dominant” genetic trait. This means that each child of a parent with Marfan syndrome has a 50 percent chance of inheriting the mutation, and a 50 percent chance of not inheriting it. Only those children who inherit the mutation will develop the signs and symptoms of Marfan syndrome.

About 25 percent of cases of Marfan syndrome are sporadic. This means that they are caused by a new mutation that occurred by chance in one of the fibrillin genes in a sperm or egg cell of an unaffected parent (2). Parents who themselves do not have Marfan syndrome and do not have a family history of Marfan syndrome, but have an affected child, should meet with a genetic counselor to discuss their risks in another pregnancy.

As with other inherited disorders, Marfan syndrome cannot be “caught” from another person. Although it may be diagnosed at any age, the signs and symptoms of Marfan syndrome do not occur unless the person has the mutation.

Is pregnancy risky for women with Marfan syndrome?
There are several important issues for women with Marfan syndrome who are considering pregnancy. First, there is a 50 percent chance of having a child with Marfan syndrome with each pregnancy. Second, the stress of pregnancy may cause rapid enlargement of the aorta, especially if the aorta is significantly enlarged before pregnancy. The risk of dissection (tearing) of the aorta is low, but not zero, in women with Marfan syndrome who have a normal aortic size. The risk increases during pregnancy as the aorta enlarges.

Women with Marfan syndrome should consult their primary health care providers and their cardiologist before pregnancy to discuss whether pregnancy is safe for them. The cardiologist generally recommends an echocardiogram to determine the dimensions of the aorta.

During pregnancy, an affected woman should receive prenatal care from a high-risk obstetrician who has experience with Marfan syndrome. She should also see her cardiologist regularly. She will need to have an echocardiogram repeated in the first, second and third trimesters to monitor the size of her aorta. If the aorta measures less than 4 cm., there usually is a low risk of tears during pregnancy (1, 2). Women who are taking a beta-blocker generally can safely continue taking the medication throughout pregnancy. Those who have had a valve replaced usually are on an oral blood thinner called coumadin (warfarin). Because this drug increases the risk of birth defects, pregnant women are switched to another blood thinner called heparin, which is given by injection (usually two or three times a day), during pregnancy.

Women with Marfan syndrome do not appear to have an increased risk of miscarriage (1). One study suggests that they may be more likely than unaffected women to deliver prematurely (before 37 weeks of pregnancy) (4). Premature babies are at increased risk of health problems during the newborn period, as well as lasting disabilities.

Most women with Marfan syndrome can have a vaginal delivery. The doctor will take appropriate measures to lessen the stress of labor and delivery. However, if the woman has significant aortic dilation, a cesarean delivery generally is recommended.

A woman with Marfan syndrome should have a follow-up echocardiogram at one to two months after delivery to check the size of her aorta.

Can Marfan syndrome be prevented?
At present, there is no way to prevent Marfan syndrome. Early diagnosis can help prevent serious complications. Genetic counseling enables informed decisions about childbearing and provides up-to-date information about the genetic basis of Marfan syndrome and on genetic testing for this condition.

What research is being done on Marfan syndrome?
In 1991, researchers, funded in part by the March of Dimes, discovered the gene that causes Marfan syndrome and identified the protein controlled by this gene (5).

Since then scientists have discovered more than 500 mutations within the fibrillin gene (2). Researchers are learning more about the role the fibrillin gene plays in the growth and development of connective tissue. A clinical trial that started in September 2006 is examining the effects of different medications on aortic dilation in an effort to prevent or decrease the rate of progression.

For further information:
National Marfan Foundation
22 Manhasset Ave.
Port Washington NY 11050
(800) 8-MARFAN

References
National Marfan Foundation. About Marfan Syndrome. Accessed 3/16/06.
Judge, D.P., and Dietz, H.C. Marfan's Syndrome. Lancet, volume 366, December 3, 2005, pages 1965-1976.
Gott, V.L., et al. Replacement of the Aortic Root in Patients with Marfan's Syndrome. New England Journal of Medicine, volume 340, number 17, April 29, 1999, pages 1307-1313.
Meijboom, L.J., et al. Obstetric Complications in Marfan Syndrome. International Journal of Cardiology, October 14, 2005.
Lee, B., et al. Linkage of Marfan Syndrome and a Phenotypically Related Disorder to Two Different Fibrillin Genes. Nature, volume 352, July 25, 1991, pages 330-334.

Contributor:
Jessica G. Davis, MD
Co-Director, Division of Human Genetics
Associate Professor of Clinical Pediatrics
Department of Pediatrics
New York Presbyterian Hospital
Weill Medical College of Cornell University

Klinefelter syndrome Disease Information

2008-07-19T20:33:00.000-07:00

Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.

Humans have 46 chromosomes, which contain all of a person's genes and DNA. Two of these chromosomes, the sex chromosomes, determine a person?s gender. Both of the sex chromosomes in females are called X chromosomes. (This is written as XX.) Males have an X and a Y chromosome (written as XY). The two sex chromosomes help a person develop fertility and the sexual characteristics of their gender.

Most often, Klinefelter syndrome is the result of one extra X (written as XXY). Occasionally, variations of the XXY chromosome count may occur, the most common being the XY/XXY mosaic. In this variation, some of the cells in the male's body have an additional X chromosome, and the rest have the normal XY chromosome count. The percentage of cells containing the extra chromosome varies from case to case. In some instances, XY/XXY mosaics may have enough normally functioning cells in the testes to allow them to father children.

Klinefelter syndrome is found in about 1 out of every 500-1,000 newborn males. The additional sex chromosome results from a random error during the formation of the egg or sperm. About half of the time the error occurs in the formation of sperm, while the remainder are due to errors in egg development. Women who have pregnancies after age 35 have a slightly increased chance of having a boy with this syndrome.

What are the symptoms of Klinefelter syndrome?

Males who have Klinefelter syndrome may have the following symptoms: small, firm testes, a small penis, sparse pubic, armpit and facial hair, enlarged breasts (called gynecomastia), tall stature, and abnormal body proportions (long legs, short trunk).

School-age children may be diagnosed if they are referred to a doctor to evaluate learning disabilities. The diagnosis may also be considered in the adolescent male when puberty is not progressing as expected. Adult males may come to the doctor because of infertility.

Klinefelter syndrome is associated with an increased risk for breast cancer, a rare tumor called extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis. Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome.

How is Klinefelter syndrome diagnosed?

A chromosomal analysis (karyotype) is used to confirm the diagnosis. In this procedure, a small blood sample is drawn. White blood cells are then separated from the sample, mixed with tissue culture medium, incubated, and checked for chromosomal abnormalities, such as an extra X chromosome.

The chromosome analysis looks at a number of cells, usually at least 20, which allows for the diagnosis of genetic conditions in both the full and mosaic state. In some cases, low-level mosaicism may be missed. However, if mosaicism is suspected (based on hormone levels, sperm counts, or physical characteristics), additional cells can be analyzed from within the same blood draw.

How is Klinefelter syndrome treated?

Testosterone therapy is used to increase strength, promote muscular development, grow body hair, improve mood and self esteem, increase energy and improve concentration.

Most men who have Klinefelter syndrome are not able to father children. However, some men with an extra X chromosome have fathered healthy offspring, sometimes with the help of infertility specialists.

Most men who have Klinefelter syndrome can expect to have a normal and productive life. Early diagnosis, in conjunction with educational interventions, medical management, and strong social support will optimize each individual?s potential in adulthood. Top of page

NHGRI Clinical Research on Klinefelter Syndrome

NHGRI is not currently conducting clinical research for Klinefelter syndrome.
Search ClinicalTrials.gov [clincialtrials.gov]
Two studies are currently enrolling individuals with Klinefelter syndrome:

Androgen Effect on Klinefelter Syndrome Motor Outcome [clinicaltrials.gov]

Current NHGRI Clinical Studies
Clinical Research FAQ

Additional Resources for Klinefelter Syndrome
Klinefelter syndrome [ghr.nlm.nih.gov]
From Genetics home Reference

Klinefelter syndrome [nlm.nih.gov]
From Medline Plus.

Klinefelter's Syndrome [nlm.nih.gov]
Additional references from Medline Plus.

Klinefelter syndrome [nlm.nih.gov]
From Genetics Home Reference.

Understanding Klinefelter Syndrome [nichd.nih.gov]
From the National Institute of Child Health & Human Development.

Klinefelter Syndrome [nichd.nih.gov]
From the National Institute of Child Health & Human Development.

Karyotyping [nlm.nih.gov]
From Medline Plus.

Karyotype
NHGRI's Talking Glossary of Genetics Terms.

American Association for Klinefelter Syndrome Information and Support [aaksis.org]
Education, support, research and understanding of 47 XXY and its variants, collectively known as Klinefelter syndrome.

K,S & A: Knowledge, Support & Action [genetic.org]
K, S & A's mission is to help individuals with one or more extra X and/or Y chromosomes and their families lead fuller and more productive lives.

Finding Reliable Health Information Online
A listing of information and links for finding comprehensive genetics health information online.