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[User] What are the treatments for Overweight and Obesity ?

[Assistant]
Successful weight-loss treatments include setting goals and making lifestyle changes, such as eating fewer calories and being physically active. Medicines and weight-loss surgery also are options for some people if lifestyle changes aren't enough.

Set Realistic Goals

Setting realistic weight-loss goals is an important first step to losing weight.

For Adults

Try to lose 5 to 10 percent of your current weight over 6 months. This will lower your risk for coronary heart disease (CHD) and other conditions.

The best way to lose weight is slowly. A weight loss of 1 to 2 pounds a week is do-able, safe, and will help you keep off the weight. It also will give you the time to make new, healthy lifestyle changes.

If you've lost 10 percent of your body weight, have kept it off for 6 months, and are still overweight or obese, you may want to consider further weight loss.

For Children and Teens

If your child is overweight or at risk for overweight or obesity, the goal is to maintain his or her current weight and to focus on eating healthy and being physically active. This should be part of a family effort to make lifestyle changes.

If your child is overweight or obese and has a health condition related to overweight or obesity, your doctor may refer you to a pediatric obesity treatment center.

Lifestyle Changes

Lifestyle changes can help you and your family achieve long-term weight-loss success. Example of lifestyle changes include:

Focusing on balancing energy IN (calories from food and drinks) with energy OUT (physical activity)

Following a healthy eating plan

Learning how to adopt healthy lifestyle habits

Over time, these changes will become part of your everyday life.

Calories

Cutting back on calories (energy IN) will help you lose weight. To lose 1 to 2pounds a week, adults should cut back their calorie intake by 500 to 1,000calories a day.

In general, having 1,000 to 1,200 calories a day will help most women lose weight safely.

In general, having 1,200 to 1,600 calories a day will help most men lose weight safely. This calorie range also is suitable for women who weigh 165pounds or more or who exercise routinely.

These calorie levels are a guide and may need to be adjusted. If you eat 1,600calories a day but don't lose weight, then you may want to cut back to 1,200calories. If you're hungry on either diet, then you may want to add 100 to 200calories a day.

Very low-calorie diets with fewer than 800 calories a day shouldn't be used unless your doctor is monitoring you.

For overweight children and teens, it's important to slow the rate of weight gain. However, reduced-calorie diets aren't advised unless you talk with a health care provider.

Healthy Eating Plan

A healthy eating plan gives your body the nutrients it needs every day. It has enough calories for good health, but not so many that you gain weight.

A healthy eating plan is low in saturated fat, trans fat, cholesterol, sodium (salt), and added sugar. Following a healthy eating plan will lower your risk for heart disease and other conditions.

Healthy foods include:

Fat-free and low-fat dairy products, such as low-fat yogurt, cheese, and milk.

Protein foods, such as lean meat, fish, poultry without skin, beans, and peas.

Whole-grain foods, such as whole-wheat bread, oatmeal, and brown rice. Other grain foods include pasta, cereal, bagels, bread, tortillas, couscous, and crackers.

Fruits, which can be fresh, canned, frozen, or dried.

Vegetables, which can be fresh, canned (without salt), frozen, or dried.

Canola and olive oils, and soft margarines made from these oils, are heart healthy. However, you should use them in small amounts because they're high in calories.

You also can include unsalted nuts, like walnuts and almonds, in your diet as long as you limit the amount you eat (nuts also are high in calories).

The National Heart, Lung, and Blood Institute's "Aim for a Healthy Weight" patient booklet provides more information about following a healthy eating plan.

Foods to limit. Foods that are high in saturated and trans fats and cholesterol raise blood cholesterol levels and also might be high in calories. Fats and cholesterol raise your risk for heart disease, so they should be limited.

Saturated fat is found mainly in:

Fatty cuts of meat, such as ground beef, sausage, and processed meats (for example, bologna, hot dogs, and deli meats)

Poultry with the skin

High-fat dairy products like whole-milk cheeses, whole milk, cream, butter, and ice cream

Lard, coconut, and palm oils, which are found in many processed foods

Trans fat is found mainly in:

Foods with partially hydrogenated oils, such as many hard margarines and shortening

Baked products and snack foods, such as crackers, cookies, doughnuts, and breads

Foods fried in hydrogenated shortening, such as french fries and chicken

Cholesterol mainly is found in:

Egg yolks

Organ meats, such as liver

Shrimp

Whole milk or whole-milk products, such as butter, cream, and cheese

Limiting foods and drinks with added sugars, like high-fructose corn syrup, is important. Added sugars will give you extra calories without nutrients like vitamins and minerals. Added sugars are found in many desserts, canned fruit packed in syrup, fruit drinks, and nondiet drinks.

Check the list of ingredients on food packages for added sugars like high-fructose corn syrup. Drinks that contain alcohol also will add calories, so it's a good idea to limit your alcohol intake.

Portion size. A portion is the amount of food that you choose to eat for a meal or snack. It's different from a serving, which is a measured amount of food and is noted on the Nutrition Facts label on food packages.

Anyone who has eaten out lately is likely to notice how big the portions are. In fact, over the past 40 years, portion sizes have grown significantly. These growing portion sizes have changed what we think of as a normal portion.

Cutting back on portion size is a good way to eat fewer calories and balance your energy IN.

Food weight. Studies have shown that we all tend to eat a constant "weight" of food. Ounce for ounce, our food intake is fairly consistent. Knowing this, you can lose weight if you eat foods that are lower in calories and fat for a given amount of food.

For example, replacing a full-fat food product that weighs 2 ounces with a low-fat product that weighs the same helps you cut back on calories. Another helpful practice is to eat foods that contain a lot of water, such as vegetables, fruits, and soups.

Physical Activity

Being physically active and eating fewer calories will help you lose weight and keep weight off over time. Physical activity also will benefit you in other ways. It will:

Lower your risk for heart disease, heart attack, diabetes, and cancers (such as breast, uterine, and colon cancers)

Strengthen your heart and help your lungs work better

Strengthen your muscles and keep your joints in good condition

Slow bone loss

Give you more energy

Help you relax and better cope with stress

Allow you to fall asleep more quickly and sleep more soundly

Give you an enjoyable way to share time with friends and family

The four main types of physical activity are aerobic, muscle-strengthening, bone strengthening, and stretching. You can do physical activity with light, moderate, or vigorous intensity. The level of intensity depends on how hard you have to work to do the activity.

People vary in the amount of physical activity they need to control their weight. Many people can maintain their weight by doing 150 to 300 minutes (2 hours and 30 minutes to 5 hours) of moderate-intensity activity per week, such as brisk walking.

People who want to lose a large amount of weight (more than 5 percent of their body weight) may need to do more than 300 minutes of moderate-intensity activity per week. This also may be true for people who want to keep off weight that they've lost.

You don't have to do the activity all at once. You can break it up into short periods of at least 10 minutes each.

If you have a heart problem or chronic disease, such as heart disease, diabetes, or high blood pressure, talk with your doctor about what types of physical activity are safe for you. You also should talk with your doctor about safe physical activities if you have symptoms such as chest pain or dizziness.

Children should get at least 60 minutes or more of physical activity every day. Most physical activity should be moderate-intensity aerobic activity. Activity should vary and be a good fit for the child's age and physical development.

Many people lead inactive lives and might not be motivated to do more physical activity. When starting a physical activity program, some people may need help and supervision to avoid injury.

If you're obese, or if you haven't been active in the past, start physical activity slowly and build up the intensity a little at a time.

When starting out, one way to be active is to do more everyday activities, such as taking the stairs instead of the elevator and doing household chores and yard work. The next step is to start walking, biking, or swimming at a slow pace, and then build up the amount of time you exercise or the intensity level of the activity.

To lose weight and gain better health, it's important to get moderate-intensity physical activity. Choose activities that you enjoy and that fit into your daily life.

A daily, brisk walk is an easy way to be more active and improve your health. Use a pedometer to count your daily steps and keep track of how much you're walking. Try to increase the number of steps you take each day. Other examples of moderate-intensity physical activity include dancing, gardening, and water aerobics.

For greater health benefits, try to step up your level of activity or the length of time you're active. For example, start walking for 10 to 15 minutes three times a week, and then build up to brisk walking for 60 minutes, 5 days a week.

For more information about physical activity, go to the Department of Health and Human Services "2008 Physical Activity Guidelines for Americans" and the Health Topics Physical Activity and Your Heart article.

Behavioral Changes

Changing your behaviors or habits related to food and physical activity is important for losing weight. The first step is to understand which habits lead you to overeat or have an inactive lifestyle. The next step is to change these habits.

Below are some simple tips to help you adopt healthier habits.

Change your surroundings. You might be more likely to overeat when watching TV, when treats are available at work, or when you're with a certain friend. You also might find it hard to motivate yourself to be physically active. However, you can change these habits.

Instead of watching TV, dance to music in your living room or go for a walk.

Leave the office break room right after you get a cup of coffee.

Bring a change of clothes to work. Head straight to an exercise class on the way home from work.

Put a note on your calendar to remind yourself to take a walk or go to your exercise class.

Keep a record. A record of your food intake and the amount of physical activity that you do each day will help inspire you. You also can keep track of your weight. For example, when the record shows that you've been meeting your physical activity goals, you'll want to keep it up. A record also is an easy way to track how you're doing, especially if you're working with a registered dietitian or nutritionist.

Seek support. Ask for help or encouragement from your friends, family, and health care provider. You can get support in person, through e-mail, or by talking on the phone. You also can join a support group.

Reward success. Reward your success for meeting your weight-loss goals or other achievements with something you would like to do, not with food. Choose rewards that you'll enjoy, such as a movie, music CD, an afternoon off from work, a massage, or personal time.

Weight-Loss Medicines

Weight-loss medicines approved by the Food and Drug Administration (FDA) might be an option for some people.

If you're not successful at losing 1 pound a week after 6months of using lifestyle changes, medicines may help. You should only use medicines as part of a program that includes diet, physical activity, and behavioral changes.

Weight-loss medicines might be suitable for adults who are obese (a BMI of 30 or greater). People who have BMIs of 27 or greater, and who are at risk for heart disease and other health conditions, also may benefit from weight-loss medicines.

Sibutramine (Meridia)

As of October 2010, the weight-loss medicine sibutramine (Meridia) was taken off the market in the United States. Research showed that the medicine may raise the risk of heart attack and stroke.

Orlistat (Xenical and Alli)

Orlistat (Xenical) causes a weight loss between 5 and 10 pounds, although some people lose more weight. Most of the weight loss occurs within the first 6 months of taking the medicine.

People taking Xenical need regular checkups with their doctors, especially during the first year of taking the medicine. During checkups, your doctor will check your weight, blood pressure, and pulse and may recommend other tests. He or she also will talk with you about any medicine side effects and answer your questions.

The FDA also has approved Alli, an over-the-counter (OTC) weight-loss aid for adults. Alli is the lower dose form of orlistat. Alli is meant to be used along with a reduced-calorie, low-fat diet and physical activity. In studies, most people taking Alli lost 5 to 10pounds over 6 months.

Both Xenical and Alli reduce the absorption of fats, fat calories, and vitamins A, D, E, and K to promote weight loss. Both medicines also can cause mild side effects, such as oily and loose stools.

Although rare, some reports of liver disease have occurred with the use of orlistat. More research is needed to find out whether the medicine plays a role in causing liver disease. Talk with your doctor if youre considering using Xenical or Alli to lose weight. He or she can discuss the risks and benefits with you.

You also should talk with your doctor before starting orlistat if youre taking blood-thinning medicines or being treated for diabetes or thyroid disease. Also, ask your doctor whether you should take a multivitamin due to the possible loss of some vitamins.

Lorcaserin Hydrochloride (Belviq) and Qsymia

In July 2012, the FDA approved two new medicines for chronic (ongoing) weight management. Lorcaserin hydrochloride (Belviq) and Qsymia are approved for adults who have a BMI of 30 or greater. (Qsymia is a combination of two FDA-approved medicines: phentermine and topiramate.)

These medicines also are approved for adults with a BMI of 27 or greater who have at least one weight-related condition, such as high blood pressure, type 2 diabetes, or high blood cholesterol.

Both medicines are meant to be used along with a reduced-calorie diet and physical activity.

Other Medicines

Some prescription medicines are used for weight loss, but aren't FDA-approved for treating obesity. They include:

Medicines to treat depression. Some medicines for depression cause an initial weight loss and then a regain of weight while taking the medicine.

Medicines to treat seizures. Two medicines used for seizures, topiramate and zonisamide, have been shown to cause weight loss. These medicines are being studied to see whether they will be useful in treating obesity.

Medicines to treat diabetes. Metformin may cause small amounts of weight loss in people who have obesity and diabetes. It's not known how this medicine causes weight loss, but it has been shown to reduce hunger and food intake.

Over-the-Counter Products

Some OTC products claim to promote weight loss. The FDA doesn't regulate these products because they're considered dietary supplements, not medicines.

However, many of these products have serious side effects and generally aren't recommended. Some of these OTC products include:

Ephedra (also called ma huang). Ephedra comes from plants and has been sold as a dietary supplement. The active ingredient in the plant is called ephedrine. Ephedra can cause short-term weight loss, but it also has serious side effects. It causes high blood pressure and stresses the heart. In 2004, the FDA banned the sale of dietary supplements containing ephedra in the United States.

Chromium. This is a mineral that's sold as a dietary supplement to reduce body fat. While studies haven't found any weight-loss benefit from chromium, there are few serious side effects from taking it.

Diuretics and herbal laxatives. These products cause you to lose water weight, not fat. They also can lower your body's potassium levels, which may cause heart and muscle problems.

Hoodia. Hoodia is a cactus that's native to Africa. It's sold in pill form as an appetite suppressant. However, no firm evidence shows that hoodia works. No large-scale research has been done on humans to show whether hoodia is effective or safe.

Weight-Loss Surgery

Weight-loss surgery might be an option for people who have extreme obesity (BMI of 40 or more) when other treatments have failed.

Weight-loss surgery also is an option for people who have a BMI of 35 or more and life-threatening conditions, such as:

Severe sleep apnea (a condition in which you have one or more pauses in breathing or shallow breaths while you sleep)

Obesity-related cardiomyopathy (KAR-de-o-mi-OP-ah-thee; diseases of the heart muscle)

Severe type 2 diabetes

Types of Weight-Loss Surgery

Two common weight-loss surgeries include banded gastroplasty and Roux-en-Y gastric bypass. For gastroplasty, a band or staples are used to create a small pouch at the top of your stomach. This surgery limits the amount of food and liquids the stomach can hold.

For gastric bypass, a small stomach pouch is created with a bypass around part of the small intestine where most of the calories you eat are absorbed. This surgery limits food intake and reduces the calories your body absorbs.

Weight-loss surgery can improve your health and weight. However, the surgery can be risky, depending on your overall health. Gastroplasty has few long-term side effects, but you must limit your food intake dramatically.

Gastric bypass has more side effects. They include nausea (feeling sick to your stomach), bloating, diarrhea, and faintness. These side effects are all part of a condition called dumping syndrome. After gastric bypass, you may need multivitamins and minerals to prevent nutrient deficiencies.

Lifelong medical followup is needed after both surgeries. Your doctor also may recommend a program both before and after surgery to help you with diet, physical activity, and coping skills.

If you think you would benefit from weight-loss surgery, talk with your doctor. Ask whether you're a candidate for the surgery and discuss the risks, benefits, and what to expect.

Weight-Loss Maintenance

Maintaining your weight loss over time can be a challenge. For adults, weight loss is a success if you lose at least 10 percent of your initial weight and you don't regain more than 6 or 7 pounds in 2 years. You also must keep a lower waist circumference (at least 2 inches lower than your waist circumference before you lost weight).

After 6 months of keeping off the weight, you can think about losing more if:

You've already lost 5 to 10 percent of your body weight

You're still overweight or obese

The key to losing more weight or maintaining your weight loss is to continue with lifestyle changes. Adopt these changes as a new way of life.

If you want to lose more weight, you may need to eat fewer calories and increase your activity level. For example, if you eat 1,600 calories a day but don't lose weight, you may want to cut back to 1,200 calories. It's also important to make physical activity part of your normal daily routine.


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[User] Is Robinow syndrome inherited ?

[Assistant] As discussed above, Robinow syndrome can have either an autosomal recessive or an autosomal dominant pattern of inheritance.  Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.  Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder. In some cases of Robinow syndrome, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.


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[User] Is facioscapulohumeral muscular dystrophy inherited ?

[Assistant] FSHD1 is inherited in an autosomal dominant pattern, which means one copy of the shortened D4Z4 region on a "permissive" chromosome 4 is sufficient to cause the disorder. In most cases, an affected person inherits the altered chromosome from one affected parent. Other people with FSHD1 have no history of the disorder in their family. These cases are described as sporadic and are caused by a new (de novo) D4Z4 contraction on one copy of a "permissive" chromosome 4.  FSHD2 is inherited in a digenic pattern, which means that two independent genetic changes are necessary to cause the disorder. To have FSHD2, an individual must inherit a mutation in the SMCHD1 gene (which is located on chromosome 18) and, separately, they must inherit one copy of a "permissive" chromosome 4. Affected individuals typically inherit the SMCHD1 gene mutation from one parent and the "permissive" chromosome 4 from the other parent. (Because neither parent has both genetic changes in most cases, they are typically unaffected.)


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[User] What is (are) KBG syndrome ?

[Assistant] KBG syndrome is a rare disorder that affects several body systems. "KBG" represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability.  A characteristic feature of KBG syndrome is unusually large upper front teeth (macrodontia). Other distinctive facial features include a wide, short skull (brachycephaly), a triangular face shape, widely spaced eyes (hypertelorism), wide eyebrows that may grow together in the middle (synophrys), a prominent nasal bridge, a long space between the nose and upper lip (philtrum), and a thin upper lip.  A common skeletal abnormality in people with KBG syndrome is slowed mineralization of bones (delayed bone age); for example, an affected 3-year-old child may have bones more typical of a child of 2. In addition, affected individuals can have abnormalities of the bones of the spine (vertebrae) and ribs. They can also have abnormalities of the bones of the hands, including unusually short or curved fifth (pinky) fingers (brachydactyly or clinodactyly, respectively). Most affected individuals are shorter than average from birth.  Development of mental and movement abilities is also delayed in KBG syndrome. Most affected individuals learn to speak and walk later than normal and have mild to moderate intellectual disability. Some people with this condition have behavioral or emotional problems, such as hyperactivity or anxiety.  Less common features of KBG syndrome include hearing loss, seizures, and heart defects.


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[User] What is (are) Agnosia ?

[Assistant] Agnosia is a rare disorder characterized by an inability to recognize and identify objects or persons. People with agnosia may have difficulty recognizing the geometric features of an object or face or may be able to perceive the geometric features but not know what the object is used for or whether a face is familiar or not. Agnosia can be limited to one sensory modality such as vision or hearing. For example, a person may have difficulty in recognizing an object as a cup or identifying a sound as a cough. Agnosia can result from strokes, dementia, developmental disorders, or other neurological conditions. It typically results from damage to specific brain areas in the occipital or parietal lobes of the brain. People with agnosia may retain their cognitive abilities in other areas.


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[User] What are the symptoms of Polycythemia vera ?

[Assistant] What are the signs and symptoms of Polycythemia vera? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycythemia vera. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Acute leukemia 90% Bruising susceptibility 90% Coronary artery disease 90% Epistaxis 90% Gastrointestinal hemorrhage 90% Gingival bleeding 90% Hepatomegaly 90% Migraine 90% Myelodysplasia 90% Splenomegaly 90% Tinnitus 90% Vertigo 90% Weight loss 90% Arthralgia 50% Respiratory insufficiency 50% Arterial thrombosis 7.5% Cerebral ischemia 7.5% Portal hypertension 7.5% Pruritus 7.5% Thrombophlebitis 7.5% Autosomal dominant inheritance - Budd-Chiari syndrome - Cerebral hemorrhage - Increased hematocrit - Increased hemoglobin - Increased megakaryocyte count - Increased red blood cell mass - Leukocytosis - Somatic mutation - Sporadic - Thrombocytopenia - Thrombocytosis - Thromboembolism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the symptoms of Usher syndrome, type 2C ?

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[User] What are the treatments for Empty Sella Syndrome ?

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[Assistant] NFJS/DPR is a rare condition; its prevalence is unknown. Only a few affected families have been reported in the medical literature.


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[User] How many people are affected by adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ?

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[User] What are the symptoms of Angelman syndrome ?

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[User] What are the genetic changes related to hyperferritinemia-cataract syndrome ?

[Assistant] Hyperferritinemia-cataract syndrome is caused by mutations in the FTL gene. This gene provides instructions for making the ferritin light chain, which is one part (subunit) of the protein ferritin. Ferritin is made up of 24 subunits formed into a hollow spherical molecule. The 24 subunits consist of varying numbers of the ferritin light chain and another subunit called the ferritin heavy chain, which is produced from another gene. The proportion of the two subunits varies in different tissues.  Ferritin stores and releases iron in cells. Each ferritin molecule can hold as many as 4,500 iron atoms inside its spherical structure. This storage capacity allows ferritin to regulate the amount of iron in cells and tissues.  The mutations that cause hyperferritinemia-cataract syndrome are found in a segment of the gene called the iron responsive element (IRE). The IRE normally can attach (bind) to a protein called the iron regulatory protein (IRP). When this binding occurs, the activity (expression) of the FTL gene is stopped to prevent too much ferritin light chain from being produced. This normally occurs when iron levels are low, because under those circumstances less ferritin is needed to store the iron. Mutations in the IRE segment of the FTL gene prevent it from binding with IRP, interfering with the mechanism by which ferritin production is matched to iron levels and resulting in excess ferritin being formed.


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[User] Is mandibulofacial dysostosis with microcephaly inherited ?

[Assistant] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from a parent. The parent may be mildly affected or may be unaffected. Sometimes the parent has the gene mutation only in some or all of their sperm or egg cells, which is known as germline mosaicism. In these cases, the parent has no signs or symptoms of the condition.


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[User] Is Jervell and Lange-Nielsen syndrome inherited ?

[Assistant] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of a child with an autosomal recessive disorder are not affected, but are carriers of one copy of the mutated gene. Some carriers of a KCNQ1 or KCNE1 mutation have signs and symptoms affecting the heart, but their hearing is usually normal.


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[User] What causes Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease (For Health Care Professionals) ?

[Assistant]
Dermatitis herpetiformis is caused by the deposit of immunoglobulin A (IgA) in the skin, which triggers further immunologic reactions resulting in lesion formation. DH is an external manifestation of an abnormal immune response to gluten, in which IgA antibodies form against the skin antigen epidermal transglutaminase.

Family studies show that 5 percent of first-degree relatives of a person with DH will also have DH. An additional 5 percent of first-degree relatives of a person with DH will have celiac disease.4 Various other autoimmune diseases are associated with DH, the most common being hypothyroidism.


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[User] What are the symptoms of Cardiac valvular dysplasia, X-linked ?

[Assistant] What are the signs and symptoms of Cardiac valvular dysplasia, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiac valvular dysplasia, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Aortic regurgitation - Congestive heart failure - Mitral regurgitation - Mitral valve prolapse - Short chordae tendineae of the mitral valve - Short chordae tendineae of the tricuspid valve - Tricuspid regurgitation - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What causes Konigsmark Knox Hussels syndrome ?

[Assistant] What causes Konigsmark Knox Hussels syndrome? Konigsmark Knox Hussels syndrome is caused by a particular mutation in the OPA1 gene. In most cases, this condition is caused by a mutation that replaces the amino acid arginine with the amino acid histidine at position 445 in the OPA1 protein. This is written as Arg445His or R445H. It is unclear why the R445H mutation causes both hearing and vision loss in affected individuals.


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[User] How many people are affected by Noonan syndrome ?

[Assistant] Noonan syndrome occurs in approximately 1 in 1,000 to 2,500 people.


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[User] What is (are) Pili annulati ?

[Assistant] Pili annulati is a hair disorder. In pili annulati, affected hair has a pattern of light and dark banding. People with pili annulati may describe their hair as "striped" or as having silvery beads. Pili annulati typically involves 20-80% of scalp hair, however it can involve facial and body hair as well. Affected hairs may be more prone to breakage.  Pili annulati can present in infancy, childhood, or later in life. It can be seen with the naked eye, however it may be more difficult to see in people with dark hair. Diagnosis is confirmed by polariscopic and/or electron microscopic examination of affected hairs. The condition runs in an autosomal dominant fashion in some families. Reduced penetrance and variable expression has been described. Sporadic cases have also been reported.


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[User] Is Alport syndrome inherited ?

[Assistant] How is Alport syndrome inherited? Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in the COL4A5 gene and are inherited in an X-linked recessive pattern. This gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the COL4A5 gene in each cell is sufficient to cause kidney failure and other severe symptoms of the disorder. In females (who have two X chromosomes), a mutation in only one copy of the COL4A5 gene usually only results in hematuria, but some women experience more severe symptoms. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.


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[User] What are the treatments for Leukemia ?

[Assistant] Standard treatments for leukemia include chemotherapy, biological therapy, radiation therapy, and immunotherapy. Some patients receive a combination of treatments.  Learn more about treatments for acute myeloid leukemia.  Learn more about treatments for chronic lymphocytic leukemia.


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[User] What are the treatments for ARDS ?

[Assistant]
ARDS is treated in a hospital's intensive care unit. Current treatment approaches focus on improving blood oxygen levels and providing supportive care. Doctors also will try to pinpoint and treat the underlying cause of the condition.

Oxygen Therapy

One of the main goals of treating ARDS is to provide oxygen to your lungs and other organs (such as your brain and kidneys). Your organs need oxygen to work properly.

Oxygen usually is given through nasal prongs or a mask that fits over your mouth and nose. However, if your oxygen level doesn't rise or it's still hard for you to breathe, your doctor will give you oxygen through a breathing tube. He or she will insert the flexible tube through your mouth or nose and into your windpipe.

Before inserting the tube, your doctor will squirt or spray a liquid medicine into your throat (and possibly your nose) to make it numb. Your doctor also will give you medicine through an intravenous (IV) line in your bloodstream to make you sleepy and relaxed.

The breathing tube will be connected to a machine that supports breathing (a ventilator). The ventilator will fill your lungs with oxygen-rich air.

Your doctor will adjust the ventilator as needed to help your lungs get the right amount of oxygen. This also will help prevent injury to your lungs from the pressure of the ventilator.

You'll use the breathing tube and ventilator until you can breathe on your own. If you need a ventilator for more than a few days, your doctor may do a tracheotomy (tra-ke-OT-o-me).

This procedure involves making a small cut in your neck to create an opening to the windpipe. The opening is called a tracheostomy (TRA-ke-OS-to-me). Your doctor will place the breathing tube directly into the windpipe. The tube is then connected to the ventilator.

For more information, go to the Health Topics Oxygen Therapy article.

Supportive Care

Supportive care refers to treatments that help relieve symptoms, prevent complications, or improve quality of life. Supportive approaches used to treat ARDS include:

Medicines to help you relax, relieve discomfort, and treat pain.

Ongoing monitoring of heart and lung function (including blood pressure and gas exchange).

Nutritional support. People who have ARDS often suffer from malnutrition. Thus, extra nutrition may be given through a feeding tube.

Treatment for infections. People who have ARDS are at higher risk for infections, such as pneumonia. Being on a ventilator also increases the risk of infections. Doctors use antibiotics to treat pneumonia and other infections.

Prevention of blood clots. Lying down for long periods can cause blood clots to form in the deep veins of your body. These clots can travel to your lungs and block blood flow (a condition called pulmonary embolism). Blood-thinning medicines and other treatments, such as compression stocking (stockings that create gentle pressure up the leg), are used to prevent blood clots.

Prevention of intestinal bleeding. People who receive long-term support from a ventilator are at increased risk of bleeding in the intestines. Medicines can reduce this risk.

Fluids. You may be given fluids to improve blood flow through your body and to provide nutrition. Your doctor will make sure you get the right amount of fluids. Fluids usually are given through an IV line inserted into one of your blood vessels.


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[User] What is (are) fibrodysplasia ossificans progressiva ?

[Assistant] Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs.  Extra-skeletal bone formation causes progressive loss of mobility as the joints become affected. Inability to fully open the mouth may cause difficulty in speaking and eating. Over time, people with this disorder may experience malnutrition due to their eating problems. They may also have breathing difficulties as a result of extra bone formation around the rib cage that restricts expansion of the lungs.  Any trauma to the muscles of an individual with fibrodysplasia ossificans progressiva, such as a fall or invasive medical procedures, may trigger episodes of muscle swelling and inflammation (myositis) followed by more rapid ossification in the injured area. Flare-ups may also be caused by viral illnesses such as influenza.  People with fibrodysplasia ossificans progressiva are generally born with malformed big toes. This abnormality of the big toes is a characteristic feature that helps to distinguish this disorder from other bone and muscle problems. Affected individuals may also have short thumbs and other skeletal abnormalities.


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[User] What are the treatments for Glioblastoma ?

[Assistant] How might glioblastoma be treated? Unfortunately, there is no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy. The best treatment options for each person depend on many factors including the size and location of the tumor; the extent to which the tumor has grown into the surrounding normal brain tissues; and the affected person's age and overall health. Glioblastoma is often treated with surgery initially to remove as much of the tumor as possible. In most cases, it is not possible to remove the entire tumor so additional treatment with radiation therapy and/or chemotherapy is necessary. In elderly people or people in whom surgery is not an option, radiation therapy and/or chemotherapy may be used.


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[User] What are the treatments for Alzheimer's Disease ?

[Assistant] People with Alzheimer's disease, those with mild cognitive impairment, those with a family history of Alzheimers, and healthy people with no memory problems who want to help scientists test new treatments may be able to take part in clinical trials. Participants in clinical trials help scientists learn about the brain in healthy aging as well as what happens in Alzheimers. Results of these trials are used to improve prevention and treatment methods. To find out more about Alzheimers clinical trials, talk to your health care provider or contact the Alzheimers Disease Education and Referral (ADEAR) Center at 1-800-438-4380. You can search for studies about a certain topic or in a certain geographic area by going to www.nia.nih.gov/alzheimers/clinical-trials.


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[User] What are the symptoms of Familial HDL deficiency ?

[Assistant] What are the signs and symptoms of Familial HDL deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial HDL deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of lipid metabolism 50% Abnormality of the liver 50% Anemia 50% EMG abnormality 50% Hemiplegia/hemiparesis 50% Lymphadenopathy 50% Splenomegaly 50% Autosomal dominant inheritance - Hypoalphalipoproteinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] Is myoclonic epilepsy with ragged-red fibers inherited ?

[Assistant] MERRF is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.  In most cases, people with MERRF inherit an altered mitochondrial gene from their mother, who may or may not show symptoms of the disorder. Less commonly, the disorder results from a new mutation in a mitochondrial gene and occurs in people with no family history of MERRF.


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[User] Is familial hypobetalipoproteinemia inherited ?

[Assistant] This condition is inherited in an autosomal codominant pattern. Codominance means that copies of the gene from both parents are active (expressed), and both copies influence the genetic trait. In FHBL, a change in one copy of the APOB gene in each cell can cause the condition, but changes in both copies of the gene cause more severe health problems.


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[User] What causes Multifocal motor neuropathy ?

[Assistant] What causes multifocal motor neuropathy? The exact underlying cause of multifocal motor neuropathy (MMN) is poorly understood. It is considered an immune-mediated disorder (due to an abnormal immune system response), both because IVIG therapy improves symptoms, and many patients have anti-GM1 antibodies. Research to further understand the cause of MMN is underway.


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[User] What are the symptoms of Deafness, X-linked 2 ?

[Assistant] What are the signs and symptoms of Deafness, X-linked 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, X-linked 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Conductive hearing impairment - Dilatated internal auditory canal - Progressive sensorineural hearing impairment - Stapes ankylosis - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for moyamoya disease ?

[Assistant] These resources address the diagnosis or management of moyamoya disease:  - Barrow Neurological Institute: What Medical Therapies Are Used To Treat Moyamoya Disease?  - Boston Children's Hospital: Learn More About Treatment for Moyamoya Disease  - Genetic Testing Registry: Moyamoya disease  - Genetic Testing Registry: Moyamoya disease 2  - Genetic Testing Registry: Moyamoya disease 3  - Genetic Testing Registry: Moyamoya disease 5  - National Institute of Neurological Disorders and Stroke: Moyamoya Disease Information Page   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] How many people are affected by sensorineural deafness and male infertility ?

[Assistant] The prevalence of sensorineural deafness and male infertility is unknown.


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[User] What is (are) Dravet syndrome ?

[Assistant] Dravet syndrome is a severe form of epilepsy. The condition appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. A family history of either epilepsy or febrile seizures exists in 15 percent to 25 percent of cases. Intellectual development begins to deteriorate around age 2, and affected individuals often have a lack of coordination, poor development of language, hyperactivity, and difficulty relating to others. In 30 to 80 percent of cases, Dravet syndrome is caused by changes in the SCN1A gene, which is required for the proper function of brain cells.


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[User] What are the genetic changes related to hyperlysinemia ?

[Assistant] Mutations in the AASS gene cause hyperlysinemia. The AASS gene provides instructions for making an enzyme called aminoadipic semialdehyde synthase. This enzyme performs two functions in the breakdown of lysine. First, the enzyme breaks down lysine to a molecule called saccharopine. It then breaks down saccharopine to a molecule called alpha-aminoadipate semialdehyde.  Mutations in the AASS gene that impair the breakdown of lysine result in elevated levels of lysine in the blood and urine. These increased levels of lysine do not appear to have any negative effects on the body.  When mutations in the AASS gene impair the breakdown of saccharopine, this molecule builds up in blood and urine. This buildup is sometimes referred to as saccharopinuria, which is considered to be a variant of hyperlysinemia. It is unclear if saccharopinuria causes any symptoms.


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[User] What are the complications of Mineral and Bone Disorder in Chronic Kidney Disease ?

[Assistant]
The complications of mineral and bone disorder in CKD include slowed bone growth and deformities, and heart and blood vessel problems.

Slowed Bone Growth and Deformities

Damaged kidneys must work harder to clear phosphorus from the body. High levels of phosphorus cause lower levels of calcium in the blood, resulting in the following series of events:

- When a persons blood calcium level becomes too low, the parathyroid glands release parathyroid hormone.  - Parathyroid hormone removes calcium from bones and places it into the blood, raising a persons blood calcium level at the risk of harming bones.  - A low calcitriol level also leads to an increased level of parathyroid hormone.

If mineral and bone disorder in CKD remains untreated in adults, bones gradually become thin and weak, and a person with the condition may begin to feel bone and joint pain. Mineral and bone disorder in CKD also increases a persons risk of bone fractures.

Heart and Blood Vessel Problems

In addition to harming bones, mineral and bone disorder in CKD can cause problems in the heart and blood vessels:

- High levels of blood calcium can damage blood vessels and lead to heart problems.  - High phosphorus levels also can cause blood vessels to become like bone, leading to hardening of the arteries.  - High phosphorus levels also cause abnormal hormone regulation, even if the calcium level is acceptable.

Parathyroid hormone and another hormone made in the bones called FGF23 can also affect bone and heart health, leading to the following series of problems:

- When parathyroid hormone or FGF23 levels are high, a person can have heart problems.   - The complex hormone abnormalities that cause bone deformities can also harm a persons heart and blood vessels.


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[User] What is (are) polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?

[Assistant] Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, commonly known as PLOSL, is a progressive disorder that affects the bones and brain. "Polycystic lipomembranous osteodysplasia" refers to cyst-like bone changes that can be seen on x-rays. "Sclerosing leukoencephalopathy" describes specific changes in the brain that are found in people with this disorder.  The bone abnormalities associated with PLOSL usually become apparent in a person's twenties. In most affected individuals, pain and tenderness in the ankles and feet are the first symptoms of the disease. Several years later, broken bones (fractures) begin to occur frequently, particularly in bones of the ankles, feet, wrists, and hands. Bone pain and fractures are caused by thinning of the bones (osteoporosis) and cyst-like changes. These abnormalities weaken bones and make them more likely to break.  The brain abnormalities characteristic of PLOSL typically appear in a person's thirties. Personality changes are among the first noticeable problems, followed by a loss of judgment, feelings of intense happiness (euphoria), a loss of inhibition, and poor concentration. These neurologic changes cause significant problems in an affected person's social and family life. As the disease progresses, it causes a severe decline in thinking and reasoning abilities (dementia). Affected people ultimately become unable to walk, speak, or care for themselves. People with this disease usually live only into their thirties or forties.


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[User] Is Swyer syndrome inherited ?

[Assistant] Most cases of Swyer syndrome are not inherited; they occur in people with no history of the condition in their family. These cases result either from nongenetic causes or from new (de novo) mutations in a gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development.  SRY-related Swyer syndrome is usually caused by a new mutation. However, some individuals with Swyer syndrome inherit an altered SRY gene from an unaffected father who is mosaic for the mutation. Mosaic means that an individual has the mutation in some cells (including some reproductive cells) but not in others. In rare cases, a father may carry the mutation in every cell of the body but also has other genetic variations that prevent him from being affected by the condition. Because the SRY gene is on the Y chromosome, Swyer syndrome caused by SRY gene mutations is described as having a Y-linked inheritance pattern.  When Swyer syndrome is associated with an MAP3K1 or NR5A1 gene mutation, the condition is also usually caused by a new mutation. In the rare inherited cases, the mutation may be inherited from either parent, since these genes are not on the Y chromosome. In these cases, the condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition.  Swyer syndrome caused by mutations in the DHH gene is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition are carriers of one copy of the altered gene. Female carriers of a DHH gene mutation generally have typical sex development. Male carriers of a DHH gene mutation may also be unaffected, or they may have genital differences such as the urethra opening on the underside of the penis (hypospadias).


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[User] How many people are affected by spondyloperipheral dysplasia ?

[Assistant] This condition is rare; only a few affected individuals have been reported worldwide.


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[User] What is (are) Juvenile spondyloarthropathy ?

[Assistant] Juvenile spondyloarthropathy refers to a group of rheumatic diseases that develop during childhood and are characterized by inflammation of the entheses (the regions where tendons or ligaments attach to bones) and joints. The joints of the lower extremities are generally affected first followed by the sacroiliac joints (between the pelvis and the spine) and spinal joints some years later. Signs and symptoms may include pain and swelling of the affected entheses and joints that may be misdiagnosed and treated as an injury. The underlying cause of juvenile spondyloarthropathy is currently unknown; however, the condition is strongly associated with HLA-B27. Some cases appear to occur sporadically while other affected people have a family history of arthritis, or other related condition. Treatment varies based on the type of juvenile spondyloarthropathy but may include various medications.


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[User] What are the treatments for Autoimmune hepatitis ?

[Assistant] How might autoimmune hepatitis be treated? Some people with mild forms of autoimmune hepatitis may not need to take medication. Doctors assess each patient individually to determine whether those with mild autoimmune hepatitis should undergo treatment. Treatment works best when autoimmune hepatitis is diagnosed early. With proper treatment, autoimmune hepatitis can usually be controlled. In fact, studies show that sustained response to treatment stops the disease from getting worse and may reverse some of the damage. The primary treatment is medicine to suppress, or slow down, an overactive immune system. Prednisone or other corticosteroids help reduce the inflammation. Azathioprine and mercaptopurine are drugs used to treat other autoimmune disorders, which have shown to help patients with autoimmune hepatitis as well. In about seven out of 10 people, the disease goes into remission within 3 years of starting treatment. Remission occurs when symptoms disappear and lab tests show improvement in liver function. Some people can eventually stop treatment, although many will see the disease return. People who stop treatment must carefully monitor their condition and promptly report any new symptoms to their doctor. Treatment with low doses of prednisone or azathioprine may be necessary on and off for years, if not for life. People who do not respond to standard immune therapy or who have severe side effects may benefit from other immunosuppressive agents such as mycophenylate mofetil, cyclosporine, or tacrolimus. People who progress to end-stage liver diseasealso called liver failureor cirrhosis may need a liver transplant. Transplantation has a 1-year survival rate of 90 percent and a 5-year survival rate of 70 to 80 percent.


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[User] How to prevent Overweight and Obesity ?

[Assistant]
Following a healthy lifestyle can help you prevent overweight and obesity. Many lifestyle habits begin during childhood. Thus, parents and families should encourage their children to make healthy choices, such as following a healthy diet and being physically active.

Make following a healthy lifestyle a family goal. For example:

Follow a healthy eating plan. Make healthy food choices, keep your calorie needs and your family's calorie needs in mind, and focus on the balance of energy IN and energy OUT.

Focus on portion size. Watch the portion sizes in fast food and other restaurants. The portions served often are enough for two or three people. Children's portion sizes should be smaller than those for adults. Cutting back on portion size will help you balance energy IN and energy OUT.

Be active. Make personal and family time active. Find activities that everyone will enjoy. For example, go for a brisk walk, bike or rollerblade, or train together for a walk or run.

Reduce screen time. Limit the use of TVs, computers, DVDs, and videogames because they limit time for physical activity. Health experts recommend 2hours or less a day of screen time that's not work- or homework-related.

Keep track of your weight, body mass index, and waist circumference. Also, keep track of your children's growth.

Led by the National Heart, Lung, and Blood Institute, four Institutes from the National Institutes of Health have come together to promote We Can!Ways to Enhance Children's Activity & Nutrition.

We Can! is a national education program designed for parents and caregivers to help children 8 to 13 years old maintain a healthy weight. The evidence-based program offers parents and families tips and fun activities to encourage healthy eating, increase physical activity, and reduce time spent being inactive.

Currently, more than 140 community groups around the country are participating in We Can! programs for parents and youth. These community groups include hospitals, health departments, clinics, faith-based organizations, YMCAs, schools, and more.

____________

We Can! is a registered trademark of the U.S. Department of Health and Human Services.


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[User] What are the genetic changes related to congenital hemidysplasia with ichthyosiform erythroderma and limb defects ?

[Assistant] Mutations in the NSDHL gene cause CHILD syndrome. This gene provides instructions for making an enzyme that is involved in the production of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals, particularly egg yolks, meat, fish, and dairy products. Although high cholesterol levels are a well-known risk factor for heart disease, the body needs some cholesterol to develop and function normally both before and after birth. Cholesterol is an important component of cell membranes and the protective substance covering nerve cells (myelin). Additionally, cholesterol plays a role in the production of certain hormones and digestive acids.  The mutations that underlie CHILD syndrome eliminate the activity of the NSDHL enzyme, which disrupts the normal production of cholesterol within cells. A shortage of this enzyme may also allow potentially toxic byproducts of cholesterol production to build up in the body's tissues. Researchers suspect that low cholesterol levels and/or an accumulation of other substances disrupt the growth and development of many parts of the body. It is not known, however, how a disturbance in cholesterol production leads to the specific features of CHILD syndrome.


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[User] What causes Floating-Harbor syndrome ?

[Assistant] What causes Floating-Harbor syndrome? The exact cause of Floating-Harbor syndrome is not known. Autosomal dominant inheritance has been suggested.


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[User] What is (are) Coma ?

[Assistant] A coma is a deep state of unconsciousness. An individual in a coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as brain injury.    A coma rarely lasts more than 2 to 4 weeks. The outcome for coma depends on the cause, severity, and site of the damage. People may come out of a coma with physical, intellectual, and psychological problems. Some people may remain in a coma for years or even decades. For those people, the most common cause of death is infection, such as pneumonia.    NIH: National Institute of Neurological Disorders and Stroke


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[User] What are the treatments for factor X deficiency ?

[Assistant] These resources address the diagnosis or management of factor X deficiency:  - Genetic Testing Registry: Factor X deficiency  - MedlinePlus Encyclopedia: Factor X Assay   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the treatments for Breast Cancer ?

[Assistant] There are many treatment options for women with breast cancer. The choice of treatment depends on your age and general health, the stage of the cancer, whether or not it has spread beyond the breast, and other factors. If tests show that you have cancer, you should talk with your doctor and make treatment decisions as soon as possible. Studies show that early treatment leads to better outcomes. Working With a Team of Specialists People with cancer often are treated by a team of specialists. The team will keep the primary doctor informed about the patient's progress. The team may include a medical oncologist who is a specialist in cancer treatment, a surgeon, a radiation oncologist who is a specialist in radiation therapy, and others. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. Some insurance companies require a second opinion. Others may pay for a second opinion if you request it. (Watch the video about this breast cancer survivor's treatment. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Clinical Trials for Breast Cancer Some breast cancer patients take part in studies of new treatments. These studies, called clinical trials, are designed to find out whether a new treatment is both safe and effective. Often, clinical trials compare a new treatment with a standard one so that doctors can learn which is more effective. Women with breast cancer who are interested in taking part in a clinical trial should talk to their doctor. The U.S. National Institutes of Health, through its National Library of Medicine and other Institutes, maintains a database of clinical trials at ClinicalTrials.gov. See a list of the current clinical trials on breast cancer.


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[User] What are the genetic changes related to transthyretin amyloidosis ?

[Assistant] Mutations in the TTR gene cause transthyretin amyloidosis. The TTR gene provides instructions for producing a protein called transthyretin. Transthyretin transports vitamin A (retinol) and a hormone called thyroxine throughout the body. To transport retinol and thyroxine, four transthyretin proteins must be attached (bound) to each other to form a four-protein unit (tetramer). Transthyretin is produced primarily in the liver. A small amount of this protein is produced in an area of the brain called the choroid plexus and in the light-sensitive tissue that lines the back of the eye (the retina).  TTR gene mutations are thought to alter the structure of transthyretin, impairing its ability to bind to other transthyretin proteins and altering its normal function.


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[User] What are the complications of Crohn's Disease ?

[Assistant]
Complications of Crohn's disease can include

- bowel obstruction. Crohn's disease can thicken the wall of the intestine. Over time, the thickened areas of the intestine can narrow, which can block the intestine. A partial or complete obstruction, also called a bowel blockage, can block the movement of food or stool through the intestines. A complete bowel obstruction is life threatening and requires immediate medical attention and often surgery.  - fistulasabnormal passages, or tunnels, between two organs, or between an organ and the outside of the body. How a health care provider treats fistulas depends on their type and severity. For some people, fistulas heal with medication and diet changes, while other people will need to have surgery.  - anal fissuressmall tears in the anus that may cause itching, pain, or bleeding. Most anal fissures heal with medical treatment, including ointments, warm baths, and dietary changes.  - ulcers. Inflammation anywhere along the GI tract can lead to ulcers or open sores in a person's mouth, intestines, anus, and perineumthe area between the anus and the sex organs. In most cases, the treatment a health care provider prescribes for Crohn's disease will also treat the ulcers.  - malnutritiona condition that develops when the body does not get the right amount of vitamins, minerals, and nutrients it needs to maintain healthy tissues and organ function. Some people may need IV fluids or feeding tubes to replace lost nutrients and fluids.  - inflammation in other areas of the body. The immune system can trigger inflammation in the      - joints    - eyes    - skin

Health care providers can treat inflammation by adjusting medications or prescribing new medications.

Crohn's Disease and Colon Cancer   People with Crohn's disease in the large intestine may be more likely to develop colon cancer. People who receive ongoing treatment and remain in remission may reduce their chances of developing colon cancer.   People with Crohn's disease should talk with their health care provider about how often they should get screened for colon cancer. Screening can include colonoscopy with biopsies. Such screening does not reduce a person's chances of developing colon cancer. Instead, screening can help diagnose cancer early and improve chances for recovery.


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[User] What are the symptoms of Osteogenesis imperfecta Levin type ?

[Assistant] What are the signs and symptoms of Osteogenesis imperfecta Levin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta Levin type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal cortical bone morphology 90% Abnormality of the mandible 90% Bowing of the long bones 90% Advanced eruption of teeth 50% Osteomyelitis 50% Reduced bone mineral density 50% Recurrent fractures 7.5% Scoliosis 7.5% Autosomal dominant inheritance - Diaphyseal cortical sclerosis - Increased susceptibility to fractures - Osteopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] what research (or clinical trials) is being done for Leigh's Disease ?

[Assistant] The NINDS supports and encourages a broad range of basic and clinical research on neurogenetic disorders such as Leigh's disease. The goal of this research is to understand what causes these disorders and then to apply these findings to new ways to diagnose, treat, and prevent them.


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[User] What is (are) neuromyelitis optica ?

[Assistant] Neuromyelitis optica is an autoimmune disorder that affects the nerves of the eyes and the central nervous system, which includes the brain and spinal cord. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. In neuromyelitis optica, the autoimmune attack causes inflammation of the nerves, and the resulting damage leads to the signs and symptoms of the condition.  Neuromyelitis optica is characterized by optic neuritis, which is inflammation of the nerve that carries information from the eye to the brain (optic nerve). Optic neuritis causes eye pain and vision loss, which can occur in one or both eyes.  Neuromyelitis optica is also characterized by transverse myelitis, which is inflammation of the spinal cord. The inflammation associated with transverse myelitis damages the spinal cord, causing a lesion that often extends the length of three or more bones of the spine (vertebrae). In addition, myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses, can be damaged. Transverse myelitis causes weakness, numbness, and paralysis of the arms and legs. Other effects of spinal cord damage can include disturbances in sensations, loss of bladder and bowel control, uncontrollable hiccupping, and nausea. In addition, muscle weakness may make breathing difficult and can cause life-threatening respiratory failure in people with neuromyelitis optica.  There are two forms of neuromyelitis optica, the relapsing form and the monophasic form. The relapsing form is most common. This form is characterized by recurrent episodes of optic neuritis and transverse myelitis. These episodes can be months or years apart, and there is usually partial recovery between episodes. However, most affected individuals eventually develop permanent muscle weakness and vision impairment that persist even between episodes. For unknown reasons, approximately nine times more women than men have the relapsing form. The monophasic form, which is less common, causes a single episode of neuromyelitis optica that can last several months. People with this form of the condition can also have lasting muscle weakness or paralysis and vision loss. This form affects men and women equally. The onset of either form of neuromyelitis optica can occur anytime from childhood to adulthood, although the condition most frequently begins in a person's forties.  Approximately one-quarter of individuals with neuromyelitis optica have signs or symptoms of another autoimmune disorder such as myasthenia gravis, systemic lupus erythematosus, or Sjgren syndrome. Some scientists believe that a condition described in Japanese patients as optic-spinal multiple sclerosis (or opticospinal multiple sclerosis) that affects the nerves of the eyes and central nervous system is the same as neuromyelitis optica.


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[User] What are the symptoms of Scholte syndrome ?

[Assistant] What are the signs and symptoms of Scholte syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scholte syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the genital system 90% Blepharophimosis 90% Broad forehead 90% Cognitive impairment 90% Decreased body weight 90% Deeply set eye 90% High forehead 90% Midline defect of the nose 90% Muscular hypotonia 90% Short foot 90% Short palm 90% Short philtrum 90% Skeletal muscle atrophy 90% Thin vermilion border 90% Abnormality of calvarial morphology 50% Abnormality of the antihelix 50% Abnormality of the palate 50% Delayed eruption of teeth 50% Epicanthus 50% Hyperlordosis 50% Joint hypermobility 50% Kyphosis 50% Limitation of joint mobility 50% Neurological speech impairment 50% Patellar aplasia 50% Patellar dislocation 50% Pes cavus 50% Sandal gap 50% Seizures 50% Short nose 50% Toe syndactyly 50% Truncal obesity 50% Upslanted palpebral fissure 50% Wide mouth 50% Abnormal facial shape - Abnormal joint morphology - Autosomal dominant inheritance - Early balding - Hypogonadism - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for Herpes zoster oticus ?

[Assistant] How might herpes zoster oticus be treated? Treatment for herpes zoster oticus typically includes anti-inflammatory drugs called steroids, which may reduce the inflammation of the nerves and help to ease the pain. Antiviral medications are usually prescribed, although whether antiviral medications are beneficial for treating this condition has not been confirmed. Strong pain medications may be prescribed if the pain continues. An eye patch may be recommended to prevent injury to the cornea (corneal abrasion) and damage to the eye if it does not close completely. Vertigo (feeling that the room is spinning) and dizziness may be treated with other medications.


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[User] What are the genetic changes related to persistent Mllerian duct syndrome ?

[Assistant] Most people with persistent Mllerian duct syndrome have mutations in the AMH gene or the AMHR2 gene. The AMH gene provides instructions for making a protein called anti-Mllerian hormone (AMH). The AMHR2 gene provides instructions for making a protein called AMH receptor type 2.  The AMH protein and AMH receptor type 2 protein are involved in male sex differentiation. All fetuses develop the Mllerian duct, the precursor to female reproductive organs. During development of a male fetus, these two proteins work together to induce breakdown (regression) of the Mllerian duct. Mutations in the AMH and AMHR2 genes lead to nonfunctional proteins that cannot signal for regression of the Mllerian duct. As a result of these mutations, the Mllerian duct persists and goes on to form a uterus and fallopian tubes.  Approximately 45 percent of cases of persistent Mllerian duct syndrome are caused by mutations in the AMH gene and are called persistent Mllerian duct syndrome type 1. Approximately 40 percent of cases are caused by mutations in the AMHR2 gene and are called persistent Mllerian duct syndrome type 2. In the remaining 15 percent of cases, no mutations in the AMH and AMHR2 genes have been identified, and the genes involved in causing the condition are unknown.


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[User] Is Rubinstein-Taybi syndrome inherited ?

[Assistant] This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.


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[User] Who is at risk for Mitral Valve Prolapse? ?

[Assistant]
Mitral valve prolapse (MVP) affects people of all ages and both sexes; however, aging raises the risk of developing the disease.

Certain conditions have been associated with MVP, including:

A history of rheumatic fever

Connective tissue disorders, such as Marfan syndrome or Ehlers-Danlos syndrome

Graves disease

Scoliosis and other skeletal problems

Some types of muscular dystrophy


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[User] What is (are) Chromosome 5q deletion ?

[Assistant] Chromosome 5q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 5q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


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[User] Is arrhythmogenic right ventricular cardiomyopathy inherited ?

[Assistant] Up to half of all cases of ARVC appear to run in families. Most familial cases of the disease have an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder.  Rarely, ARVC has an autosomal recessive pattern of inheritance, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


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[User] What are the symptoms of Fuhrmann syndrome ?

[Assistant] What are the signs and symptoms of Fuhrmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fuhrmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fibula 90% Adactyly 90% Aplasia/Hypoplasia of the fibula 90% Aplasia/Hypoplasia of the ulna 90% Femoral bowing 90% Hypoplasia of the radius 90% Radial bowing 90% Short stature 90% Talipes 90% Tarsal synostosis 90% Aplasia/Hypoplasia of the 5th finger 75% Aplasia/hypoplasia of the femur 75% Congenital hip dislocation 75% Hypoplastic iliac wing 75% Hypoplastic pelvis 75% Oligodactyly (feet) 75% Patellar aplasia 75% Abnormal finger flexion creases 50% Abnormality of the femur 50% Abnormality of the fingernails 50% Abnormality of the hip bone 50% Abnormality of the metacarpal bones 50% Anonychia 50% Bowing of the long bones 50% Clinodactyly of the 5th finger 50% Hypoplastic toenails 50% Postaxial hand polydactyly 50% Sacrococcygeal pilonidal abnormality 50% Single transverse palmar crease 50% Symphalangism affecting the phalanges of the hand 50% Ulnar deviation of finger 50% Aplasia/Hypoplasia involving the metacarpal bones 33% Aplasia/Hypoplasia of metatarsal bones 33% Oligodactyly (hands) 33% Talipes equinovarus 33% Toe syndactyly 33% Finger syndactyly 7.5% Low-set, posteriorly rotated ears 7.5% Macrotia 7.5% Short distal phalanx of finger 7.5% Split hand 7.5% Absent toenail - Amenorrhea - Aplasia/Hypoplasia of the phalanges of the hand - Autosomal recessive inheritance - Fibular aplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] How many people are affected by Sotos syndrome ?

[Assistant] Sotos syndrome is reported to occur in 1 in 10,000 to 14,000 newborns. Because many of the features of Sotos syndrome can be attributed to other conditions, many cases of this disorder are likely not properly diagnosed, so the true incidence may be closer to 1 in 5,000.


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[User] How to diagnose Acquired Cystic Kidney Disease ?

[Assistant]
A health care provider may diagnose a person with acquired cystic kidney disease based on

- medical history  - imaging tests

Medical History

Taking a medical history may help a health care provider diagnose acquired cystic kidney disease. A health care provider may suspect acquired cystic kidney disease if a person who has been on dialysis for several years develops symptoms such as fever, back pain, or blood in the urine.

Imaging Tests

To confirm the diagnosis, the health care provider may order one or more imaging tests. A radiologista doctor who specializes in medical imaginginterprets the images from these tests, and the patient does not need anesthesia.

- Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A specially trained technician performs the procedure in a health care provider's office, an outpatient center, or a hospital. The images can show cysts in the kidneys as well as the kidneys' size and shape.  - Computerized tomography (CT) scans use a combination of x rays and computer technology to create images. For a CT scan, a nurse or technician may give the patient a solution to drink and an injection of a special dye, called contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where an x-ray technician takes the x-rays. An x-ray technician performs the procedure in an outpatient center or a hospital. CT scans can show cysts and tumors in the kidneys.  - Magnetic resonance imaging (MRI) is a test that takes pictures of the body's internal organs and soft tissues without using x-rays. A specially trained technician performs the procedure in an outpatient center or a hospital. Although the patient does not need anesthesia, a health care provider may give people with a fear of confined spaces light sedation, taken by mouth. An MRI may include the injection of contrast medium. With most MRI machines, the patient will lie on a table that slides into a tunnel-shaped device that may be open-ended or closed at one end. Some machines allow the patient to lie in a more open space. During an MRI, the patient, although usually awake, must remain perfectly still while the technician takes the images, which usually takes only a few minutes. The technician will take a sequence of images from different angles to create a detailed picture of the kidneys. During the test, the patient will hear loud mechanical knocking and humming noises from the machine.

Sometimes a health care provider may discover acquired cystic kidney disease during an imaging exam for another condition. Images of the kidneys may help the health care provider distinguish acquired cystic kidney disease from PKD.


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[User] What is (are) Foodborne Illnesses ?

[Assistant]
Foodborne illnesses are infections or irritations of the gastrointestinal (GI) tract caused by food or beverages that contain harmful bacteria, parasites, viruses, or chemicals. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. Common symptoms of foodborne illnesses include vomiting, diarrhea, abdominal pain, fever, and chills.

Most foodborne illnesses are acute, meaning they happen suddenly and last a short time, and most people recover on their own without treatment. Rarely, foodborne illnesses may lead to more serious complications. Each year, an estimated 48 million people in the United States experience a foodborne illness. Foodborne illnesses cause about 3,000 deaths in the United States annually.1


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[User] What is (are) Familial prostate cancer ?

[Assistant] Familial prostate cancer is a cluster of prostate cancer within a family. Most cases of prostate cancer occur sporadically in people with no family history of the condition. However, approximately 5% to 10% of prostate cancer cases are believed to be primarily caused by a genetic predisposition to the condition. In many families, the underlying genetic cause is unknown; however, some of these cases are caused by changes (mutations) in the BRCA1, BRCA2, HOXB13, or several other genes. Other cases are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening at an earlier age is typically recommended in men who have an increased risk for prostate cancer based on personal and/or family histories.


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[User] what research (or clinical trials) is being done for Tardive Dyskinesia ?

[Assistant] The NINDS conducts and supports a broad range of research on movement disorders including tardive dyskinesia. The goals of this research are to improve understanding of these disorders and to discover ways to treat, prevent, and, ultimately, cure them.


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[User] What are the genetic changes related to tetra-amelia syndrome ?

[Assistant] Researchers have found a mutation in the WNT3 gene in people with tetra-amelia syndrome from one large family. This gene is part of a family of WNT genes that play critical roles in development before birth. The protein produced from the WNT3 gene is involved in the formation of the limbs and other body systems during embryonic development. Mutations in the WNT3 gene prevent cells from producing functional WNT3 protein, which disrupts normal limb formation and leads to the other serious birth defects associated with tetra-amelia syndrome.  In other affected families, the cause of tetra-amelia syndrome has not been determined. Researchers believe that unidentified mutations in WNT3 or other genes involved in limb development are probably responsible for the disorder in these cases.


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[User] What are the treatments for Periventricular heterotopia ?

[Assistant] How might periventricular nodular heterotopia be treated? Treatment of epilepsy generally follows principles for a seizure disorder caused by a known structural brain abnormality; carbamezipine is most often used, because most patients have focal seizures. However, antiepileptic drugs may be selected based on side effects, tolerability, and efficacy. It is recommended that patients with the X-linked form of the disease have studies evaluating the carotid artery and an abdominal ultrasound because of the risk for aortic or carotid dissection or other vascular anomalies.[1823] Treatment also include surgery for removal of the lesion and more recently, laser ablation guided with magnetic resonance.


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[User] What is (are) GRACILE syndrome ?

[Assistant] GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death.  In GRACILE syndrome, growth before birth is slow (intrauterine growth retardation). Affected newborns are smaller than average and have an inability to grow and gain weight at the expected rate (failure to thrive). A characteristic of GRACILE syndrome is excess iron in the liver, which likely begins before birth. Iron levels may begin to improve after birth, although they typically remain elevated. Within the first day of life, infants with GRACILE syndrome have a buildup of a chemical called lactic acid in the body (lactic acidosis). They also have kidney problems that lead to an excess of molecules called amino acids in the urine (aminoaciduria). Babies with GRACILE syndrome have cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis) in the first few months of life.  Because of the severe health problems caused by GRACILE syndrome, infants with this condition do not survive for more than a few months, and about half die within a few days of birth.