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treatment | What are the treatments for Patulous Eustachian Tube ? | How might patulous eustacian tube be treated? While no standard treatment has been found to work for every patient, there are several options that have been used to successfully manage the symptoms in a number of cases. Patients are often advised to recline or lower the head between the knees when symptoms occur. They may also be advised to avoid diuretics and/or increase weight. Medications which have been shown to work in some patients include nasal sprays containing anticholinergics, estrogen, diluted hydrochloric acid, chlorobutanol, or benzyl alcohol. Surgical treatment may be indicated in some cases. Information detailing treatment options can be accessed through Medscape Reference. |
information | What is (are) High Blood Pressure ? | Normal blood pressure for adults is defined as a systolic pressure below 120 mmHg and a diastolic pressure below 80 mmHg. It is normal for blood pressures to change when you sleep, wake up, or are excited or nervous. When you are active, it is normal for your blood pressure to increase. However, once the activity stops, your blood pressure returns to your normal baseline range. Blood pressure normally rises with age and body size. Newborn babies often have very low blood pressure numbers that are considered normal for babies, while older teens have numbers similar to adults. |
inheritance | Is hystrix-like ichthyosis with deafness inherited ? | 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. In some cases, 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. |
symptoms | What are the symptoms of Dyskeratosis congenita autosomal recessive ? | What are the signs and symptoms of Dyskeratosis congenita autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyskeratosis congenita autosomal recessive. 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 neutrophils 90% Abnormality of the fingernails 90% Anemia 90% Hypermelanotic macule 90% Thrombocytopenia 90% Abnormality of coagulation 50% Abnormality of female internal genitalia 50% Abnormality of the pharynx 50% Abnormality of the testis 50% Anonychia 50% Aplasia/Hypoplasia of the skin 50% Aplastic/hypoplastic toenail 50% Bone marrow hypocellularity 50% Carious teeth 50% Cellular immunodeficiency 50% Cognitive impairment 50% Hyperhidrosis 50% Hypopigmented skin patches 50% Intrauterine growth retardation 50% Malabsorption 50% Palmoplantar keratoderma 50% Recurrent fractures 50% Recurrent respiratory infections 50% Rough bone trabeculation 50% Short stature 50% Skin ulcer 50% Telangiectasia of the skin 50% Tracheoesophageal fistula 50% Abnormal blistering of the skin 7.5% Abnormality of the eyebrow 7.5% Alopecia 7.5% Aseptic necrosis 7.5% Cataract 7.5% Cerebral calcification 7.5% Cirrhosis 7.5% Diabetes mellitus 7.5% Displacement of the external urethral meatus 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hepatomegaly 7.5% Hypopigmentation of hair 7.5% Inflammatory abnormality of the eye 7.5% Lymphoma 7.5% Neoplasm of the pancreas 7.5% Premature graying of hair 7.5% Reduced bone mineral density 7.5% Scoliosis 7.5% Splenomegaly 7.5% Aplastic anemia - Autosomal recessive inheritance - Esophageal stricture - Hepatic fibrosis - Hyperpigmentation of the skin - Increased lacrimation - Intellectual disability - Microcephaly - Microdontia - Nail dysplasia - Nasolacrimal duct obstruction - Oral leukoplakia - Osteoporosis - Phenotypic variability - Pterygium formation (nails) - Pulmonary fibrosis - Small nail - Sparse eyelashes - Sparse scalp hair - 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. |
treatment | What are the treatments for Kidney Failure: Choosing a Treatment That's Right for You ? | Conservative management for kidney failure is the choice to say no to or stop dialysis treatments. For many people, dialysis not only extends life, it also improves the quality of life. For others who have serious conditions in addition to kidney failure, dialysis may seem like a burden that only prolongs suffering. If you have serious conditions in addition to kidney failure, dialysis may not prolong your life or improve the quality of your life.
You have the right to say no to or stop dialysis. You may want to speak with your doctor, spouse, family, counselor, or renal social worker, who helps people with kidney disease, to help you make this decision.
If you stop dialysis treatments or say you do not want to begin them, you may live for a few weeks or for several months, depending on your health and your remaining kidney function. You may choose to receive care from a hospicea facility or home program designed to meet the physical and emotional needs of the terminally illduring this time. Hospice care focuses on relief of pain and other symptoms. Whether or not you choose to use a hospice, your doctor can give you medicines to make you more comfortable. Your doctor can also give you medicines to treat the problems of kidney failure, such as anemia or weak bones. You may restart dialysis treatment if you change your mind.
Advance Directives
An advance directive is a statement or document in which you give instructions either to withhold certain treatments, such as dialysis, or to provide them, depending on your wishes and the specific circumstances. Even if you are happy with your quality of life on dialysis, you should think about circumstances that might make you want to stop dialysis treatments. At some point in a medical crisis, you might lose the ability to tell your health care team and loved ones what you want. Advance directives may include
- a living will - a durable power of attorney for health care decisions - a do not resuscitate (DNR) ordera legal form that tells your health care team you do not want cardiopulmonary resuscitation (CPR) or other life-sustaining treatment if your heart were to stop or if you were to stop breathing.
A living will is a document that details the conditions under which you would want to refuse treatment. You may state that you want your health care team to use all available means to sustain your life, or you may direct that you be withdrawn from dialysis if you fall into a coma from which you most likely wont wake up. In addition to dialysis, you may choose or refuse the following life-sustaining treatments:
- CPR - feedings through a tube in your stomach - mechanical or artificial means to help you breathe - medicines to treat infections - surgery - receiving blood
Refusing to have CPR is the same as a DNR order. If you choose to have a DNR order, your doctor will place the order in your medical chart.
A durable power of attorney for health care decisions or a health care proxy is a document you use to assign a person to make health care decisions for you in the event you cannot make them for yourself. Make sure the person you name understands your values and will follow your instructions.
Each state has its own laws on advance directives. You can obtain a form for an advance medical directive thats valid in your state from the National Hospice and Palliative Care Organizationsee For More Information. |
frequency | How many people are affected by Turner syndrome ? | This condition occurs in about 1 in 2,500 newborn girls worldwide, but it is much more common among pregnancies that do not survive to term (miscarriages and stillbirths). |
inheritance | Is Schindler disease inherited ? | This condition 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 each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for Acanthoma ? | How might an acanthoma be treated? Acanthomas are considered benign, but treatment may be done for cosmetic reasons or to relieve any associated symptoms. Because acanthomas are quite rare, there are no established guidelines for treatment. Treatment may depend on the type, number, and location of acanthomas. For example, a single acanthoma may be removed by surgery, whereas multiple acanthomas may be treated with cryosurgery or the use of the medication fluorouracil cream. |
causes | What causes Long QT syndrome ? | What causes long QT syndrome? Acquired long QT syndrome can be caused by certain medicines and medical conditions. Some medications that cause long QT syndrome include antihistamines and decongestants, antibiotics, antidepressants, and cholesterol-lowering medicines. Examples of medical conditions that can cause long QT syndrome include excessive diarrhea or vomiting and certain thyroid disorders. Inherited forms of long QT syndrome are caused by changes in genes that control the heart muscles electrical activity. Inherited long QT syndrome may be isolated (occur alone without other associated symptoms) or be due to a genetic syndrome, such as Romano-Ward syndrome, Jervell Lang-Nielsen syndrome, Anderson-Tawil syndrome, and Timothy syndrome. |
information | What is (are) Hypertryptophanemia ? | Hypertryptophanemia is a rare condition that likely occurs due to abnormalities in the body's ability to process the amino acid (a building block of proteins), tryptophan. People affected by this condition may experience intellectual disability and behavioral problems (i.e. periodic mood swings, exaggerated emotional responses and abnormal sexual behavior). The underlying genetic cause of hypertryptophanemia is currently unknown; however, it appears to be inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. |
frequency | How many people are affected by adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ? | ALSP is thought to be a rare disorder, although the prevalence is unknown. Because it can be mistaken for other disorders with similar symptoms, ALSP may be underdiagnosed. |
information | Do you have information about Dental Health | Summary : It's important to take care of your mouth and teeth starting in childhood. If you don't, you could have problems with your teeth and gums - like cavities or even tooth loss. Here's how to keep your mouth and teeth healthy: - Brush your teeth every day with a fluoride toothpaste - Clean between your teeth every day with floss or another type of between-the-teeth cleaner - Snack smart - limit sugary snacks - Don't smoke or chew tobacco - See your dentist or oral health professional regularly NIH: National Institute of Dental and Craniofacial Research |
frequency | How many people are affected by spondylocarpotarsal synostosis syndrome ? | Spondylocarpotarsal synostosis syndrome is a rare disorder; its prevalence is unknown. At least 25 affected individuals have been identified. |
symptoms | What are the symptoms of Heart Disease in Women ? | The signs and symptoms ofcoronary heart disease(CHD) may differ between women and men. Some women who have CHD have no signs or symptoms. This is called silent CHD.
Silent CHD may not be diagnosed until a woman has signs and symptoms of aheart attack, heart failure, or an arrhythmia(irregular heartbeat).
Other women who have CHD will have signs and symptoms of the disease.
Heart Disease Signs and Symptoms
A common symptom of CHD isangina.Angina is chest pain or discomfort that occurs when your heart muscle doesn't get enough oxygen-rich blood.
In men, angina often feels like pressure or squeezing in the chest. This feeling may extend to the arms. Women can also have these angina symptoms. But women also tend to describe a sharp, burning chest pain. Women are more likely to have pain in the neck, jaw, throat, abdomen, or back.
In men, angina tends to worsen with physical activity and go away with rest. Women are more likely than men to have angina while they're resting or sleeping.
In women who havecoronary microvascular disease, angina often occurs during routine daily activities, such as shopping or cooking, rather than while exercising. Mental stress also is more likely to trigger angina pain in women than in men.
The severity of angina varies. The pain may get worse or occur more often as the buildup of plaque continues to narrow the coronary (heart) arteries.
Signs and Symptoms Coronary Heart Disease Complications
Heart Attack
The most common heart attack symptom in men and women is chest pain or discomfort. However, only half of women who have heart attacks have chest pain.
Women are more likely than men to report back or neck pain, indigestion, heartburn, nausea (feeling sick to the stomach), vomiting, extreme fatigue (tiredness), or problems breathing.
Heart attacks also can cause upper body discomfort in one or both arms, the back, neck, jaw, or upper part of the stomach. Other heart attack symptoms are light-headedness and dizziness, which occur more often in women than men.
Men are more likely than women to break out in a cold sweat and to report pain in the left arm during a heart attack.
Heart Failure
Heart failure is a condition in which your heart can't pump enough blood to meet your body's needs. Heart failure doesn't mean that your heart has stopped or is about to stop working. It means that your heart can't cope with the demands of everyday activities.
Heart failure causes shortness of breath and fatigue that tends to increase with physical exertion. Heart failure also can cause swelling in the feet, ankles, legs, abdomen, and veins in the neck.
Arrhythmia
An arrhythmia is a problem with the rate or rhythm of the heartbeat. During an arrhythmia, the heart can beat too fast, too slow, or with an irregular rhythm.
Some people describe arrhythmias as fluttering or thumping feelings or skipped beats in their chests. These feelings are calledpalpitations.
Some arrhythmias can cause your heart to suddenly stop beating. This condition is calledsudden cardiac arrest(SCA). SCA causes loss of consciousness and death if it's not treated right away.
Signs and Symptoms of Broken Heart Syndrome
The most common signs and symptoms of broken heart syndrome are chest pain and shortness of breath. In this disorder, these symptoms tend to occur suddenly in people who have no history of heart disease.
Arrhythmias orcardiogenic shockalso may occur. Cardiogenic shock is a condition in which a suddenly weakened heart isn't able to pump enough blood to meet the body's needs.
Some of the signs and symptoms of broken heart syndrome differ from those of heart attack. For example, in people who have broken heart syndrome:
Symptoms occur suddenly after having extreme emotional or physical stress.
EKG (electrocardiogram) results don't look the same as the EKG results for a person having a heart attack. (An EKG is a test that records the heart's electrical activity.)
Blood tests show no signs or mild signs of heart damage.
Tests show no signs of blockages in the coronary arteries.
Tests show ballooning and unusual movement of the lower left heart chamber (left ventricle).
Recovery time is quick, usually within days or weeks (compared with the recovery time of a month or more for a heart attack). |
information | What is (are) Chromosome 12q deletion ? | Chromosome 12q 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 12. 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 12q 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. |
information | What is (are) Greenberg dysplasia ? | Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth. The bones of affected individuals do not develop properly, causing a distinctive spotted appearance called moth-eaten bone, which is visible on x-ray images. In addition, the bones have abnormal calcium deposits (ectopic calcification). Affected individuals have extremely short bones in the arms and legs and abnormally flat vertebrae (platyspondyly). Other skeletal abnormalities may include short ribs and extra fingers (polydactyly). In addition, affected fetuses have extensive swelling of the body caused by fluid accumulation (hydrops fetalis). Greenberg dysplasia is also called hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM), which reflects the condition's most common features. |
information | What is (are) Lemierre syndrome ? | Lemierre syndrome is a rare and potentially life-threatening illness. The bacterium responsible for this disease is typically Fusobacterium necrophorum, although a wide variety of bacteria have been reported as causing the disease. The bacterial infection begins in the oropharynx then spreads through the lymphatic vessels. Following this primary infection, thrombophlebitis of the internal jugular vein (IJV) develops. The final phase of the disease occurs when septic emboli (pus-containing tissue) migrate from their original location in the body to various organs. The lungs are most commonly involved, however other sites may include the joints, muscle, skin and soft tissue, liver, and spleen. The symptoms of Lemierre syndrome include fever, sore throat, neck swelling, pulmonary involvement and joint pain. It is an uncommon disease that occurs in about one person per million per year. The disease primarily affects healthy young people before age 40. Diagnosis of Lemierre syndrome rests on the presence of a blood clot (or clots) in the IJV and blood cultures that show the presence of Fusobacterium necrophorum. Intravenous antibiotics are the mainstay of treatment. |
genetic changes | What are the genetic changes related to Peutz-Jeghers syndrome ? | Mutations in the STK11 gene (also known as LKB1) cause most cases of Peutz-Jeghers syndrome. The STK11 gene is a tumor suppressor gene, which means that it normally prevents cells from growing and dividing too rapidly or in an uncontrolled way. A mutation in this gene alters the structure or function of the STK11 protein, disrupting its ability to restrain cell division. The resulting uncontrolled cell growth leads to the formation of noncancerous polyps and cancerous tumors in people with Peutz-Jeghers syndrome. A small percentage of people with Peutz-Jeghers syndrome do not have mutations in the STK11 gene. In these cases, the cause of the disorder is unknown. |
treatment | What are the treatments for Corticobasal Degeneration ? | There is no treatment available to slow the course of corticobasal degeneration, and the symptoms of the disease are generally resistant to therapy. Drugs used to treat Parkinson disease-type symptoms do not produce any significant or sustained improvement. Clonazepam may help the myoclonus. Occupational, physical, and speech therapy can help in managing disability. |
information | What is (are) Nuclear Gene-Encoded Leigh Syndrome ? | Nuclear gene-encoded Leigh syndrome is a progressive neurological disease. It usually first becomes apparent in infancy with developmental delay or regression. Rarely, the disease begins in adolescence or adulthood. Symptoms progress to include generalized weakness, lack of muscle tone, spasticity, movement disorders, cerebellar ataxia, and peripheral neuropathy. Other signs and symptoms may include an increase in the heart muscle size (hypertrophic cardiomyopathy); excessive body hair (hypertrichosis); anemia; kidney or liver problems; and lung or heart failure. Nuclear gene-encoded Leigh syndrome (and Leigh-like syndrome, a term used for cases with similar features but that do not fulfill the diagnostic criteria for Leigh syndrome) may be caused by mutations in any of several genes and can be inherited in an autosomal recessive or X-linked manner. While treatment for some cases of Leigh-like syndrome may be available, management is generally supportive and focuses on the symptoms present. |
frequency | How many people are affected by mitochondrial membrane protein-associated neurodegeneration ? | MPAN is a rare condition that is estimated to affect less than 1 in 1 million people. |
information | What is (are) Anencephaly ? | Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the "cephalic" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed--not covered by bone or skin. A baby born with anencephaly is usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brain stem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as breathing and responses to sound or touch may occur.
The cause of anencephaly is unknown. Although it is thought that a mother's diet and vitamin intake may play a role, scientists believe that many other factors are also involved.
Recent studies have shown that the addition of folic acid (vitamin B9) to the diet of women of childbearing age may significantly reduce the incidence of neural tube defects. Therefore it is recommended that all women of childbearing age consume 0.4 mg of folic acid daily. |
genetic changes | What are the genetic changes related to hereditary xanthinuria ? | Hereditary xanthinuria type I is caused by mutations in the XDH gene. This gene provides instructions for making an enzyme called xanthine dehydrogenase. This enzyme is involved in the normal breakdown of purines, which are building blocks of DNA and its chemical cousin, RNA. Specifically, xanthine dehydrogenase carries out the final two steps in the process, including the conversion of xanthine to uric acid (which is excreted in urine and feces). Mutations in the XDH gene reduce or eliminate the activity of xanthine dehydrogenase. As a result, the enzyme is not available to help carry out the last two steps of purine breakdown. Because xanthine is not converted to uric acid, affected individuals have high levels of xanthine and very low levels of uric acid in their blood and urine. The excess xanthine can cause damage to the kidneys and other tissues. Hereditary xanthinuria type II results from mutations in the MOCOS gene. This gene provides instructions for making an enzyme called molybdenum cofactor sulfurase. This enzyme is necessary for the normal function of xanthine dehydrogenase, described above, and another enzyme called aldehyde oxidase. Mutations in the MOCOS gene prevent xanthine dehydrogenase and aldehyde oxidase from being turned on (activated). The loss of xanthine dehydrogenase activity prevents the conversion of xanthine to uric acid, leading to an accumulation of xanthine in the kidneys and other tissues. The loss of aldehyde oxidase activity does not appear to cause any health problems. |
treatment | What are the treatments for medium-chain acyl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of MCAD deficiency: - Baby's First Test - Gene Review: Gene Review: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency - Genetic Testing Registry: Medium-chain acyl-coenzyme A dehydrogenase deficiency - MedlinePlus Encyclopedia: Newborn Screening Tests 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 |
treatment | What are the treatments for Lipedema ? | How might lipedema be treated? Treatment options for lipedema are limited. A number of therapies that have been tried with minimal success include dieting, diuretics, leg elevation, and compression. Invasive treatments such as lipectomy or liposuction are not recommended because they risk causing damage to the lymphatic system. While, compression therapy may not do much to improve the lipedema, it may help prevent worsening and progression to lymphedema (lipolymphedema). |
treatment | What are the treatments for Heart Failure ? | Early diagnosis and treatment can help people who have heart failure live longer, more active lives. Treatment for heart failure depends on the type and severity of the heart failure.
The goals of treatment for all stages of heart failure include:
Treating the conditions underlying cause, such ascoronary heart disease,high blood pressure, ordiabetes
Reducing symptoms
Stopping the heart failure from getting worse
Increasing your lifespan and improving your quality of life
Treatments usually include lifestyle changes, medicines, and ongoing care. If you have severe heart failure, you also may need medical procedures or surgery.
Heart-Healthy Lifestyle Changes
Your doctor may recommend heart-healthy lifestyle changes if you have heart failure. Heart-healthy lifestyle changes include:
Heart-healthy eating
Maintaining a healthy weight
Physical activity
Quitting smoking
Heart-Healthy Eating
Your doctor may recommend a heart-healthy eating plan, which should include:
Fat-free or low-fat dairy products, such as skim milk
Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week
Fruits, such as apples, bananas, oranges, pears, and prunes
Legumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans
Vegetables, such as broccoli, cabbage, and carrots
Whole grains, such as oatmeal, brown rice, and corn tortillas
When following a heart-healthy diet, you should avoid eating:
A lot of red meat
Palm and coconut oils
Sugary foods and beverages
Two nutrients in your diet make blood cholesterol levels rise:
Saturated fatfound mostly in foods that come from animals
Trans fat (trans fatty acids)found in foods made with hydrogenated oils and fats, such as stick margarine; baked goods, such as cookies, cakes, and pies; crackers; frostings; and coffee creamers. Some trans fats also occur naturally in animal fats andmeats.
Saturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5 percent to 6 percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples:
If you eat:
Try to eat no more than:
1,200 calories a day
8 grams of saturated fat a day
1,500 calories a day
10 grams of saturated fat a day
1,800 calories a day
12 grams of saturated fat a day
2,000 calories a day
13 grams of saturated fat a day
2,500 calories a day
17 grams of saturated fat a day
Not all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterollevels.
Some sources of monounsaturated and polyunsaturated fats are:
Avocados
Corn, sunflower, and soybean oils
Nuts and seeds, such as walnuts
Olive, canola, peanut, safflower, and sesame oils
Peanut butter
Salmon and trout
Tofu
Sodium
You should try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more.
Dietary Approaches to Stop Hypertension
Your doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt.
The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH.
Liquid Intake
Its important for people who have heart failure to take in the correct amounts and types of liquids. Consuming too much liquid can worsen heart failure. Also, if you have heart failure, you shouldnt drink alcohol. Talk with your doctor about what amounts and types of liquids you should have each day.
Maintaining a Healthy Weight
Maintaining a healthy weight is important for overall health and can lower your risk for heart failure and coronary heart disease. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active.
Knowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out the National Heart, Lung, and Blood Institutes (NHLBI) online BMI calculator or talk to your doctor. A BMI:
Below 18.5 is a sign that you are underweight.
Between 18.5 and 24.9 is in the normal range.
Between 25 and 29.9 is considered overweight.
Of 30 or more is considered obese.
A general goal to aim for is a BMI below 25. Your doctor or health care provider can help you set an appropriate BMI goal.
Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type 2 diabetes. This risk may be higher with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk.
If youre overweight or obese, try to lose weight. A loss of just 3 percent to 5 percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type 2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol.
Physical Activity
Routine physical activity can lower many coronary heart disease risk factors, including LDL (bad) cholesterol, high blood pressure, and excess weight. Physical activity also can lower your risk for diabetes and raise your HDL cholesterol level. HDL is the good cholesterol that helps prevent coronary heart disease.
Everyone should try to participate in moderate-intensity aerobic exercise at least 2hours and 30minutes per week, or vigorous aerobic exercise for 1hour and 15minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats faster and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10minutes at a time spread throughout the week.
Read more about physical activity at:
Physical Activity and Your Heart
U.S. Department of Health and Human Services 2008 Physical Activity Guidelines forAmericans
Talk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you.
Quitting Smoking
If you smoke, quit. Smoking can raise your risk for coronary heart disease and heart attack and worsen heart failure. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke.
If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking.
Read more about quitting smoking at Smoking and Your Heart.
Medicines
Your doctor will prescribe medicines based on the type of heart failure you have, how severe it is, and your response to certain medicines. The following medicines are commonly used to treat heart failure:
ACE inhibitors lower blood pressure and reduce strain on your heart. They also may reduce the risk of a futureheart attack.
Aldosterone antagonists trigger the body to remove excess sodium through urine. This lowers the volume of blood that the heart must pump.
Angiotensin receptor blockers relax your blood vessels and lower blood pressure to decrease your hearts workload.
Beta blockers slow your heart rate and lower your blood pressure to decrease your hearts workload.
Digoxin makes the heart beat stronger and pump more blood.
Diuretics (fluid pills) help reduce fluid buildup in your lungs and swelling in your feet and ankles.
Isosorbide dinitrate/hydralazine hydrochloride helps relax your blood vessels so your heart doesnt work as hard to pump blood. Studies have shown that this medicine can reduce the risk of death in blacks. More studies are needed to find out whether this medicine will benefit other racial groups.
Take all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to. You should still follow a heart healthy lifestyle, even if you take medicines to treat your heart failure.
Ongoing Care
You should watch for signs that heart failure is getting worse. For example, weight gain may mean that fluids are building up in your body. Ask your doctor how often you should check your weight and when to report weight changes.
Getting medical care for other related conditions is important. If you have diabetes or high blood pressure, work with your health care team to control these conditions. Have your blood sugar level and blood pressure checked. Talk with your doctor about when you should have tests and how often to take measurements at home.
Try to avoid respiratory infections like the flu andpneumonia. Talk with your doctor or nurse about getting flu and pneumonia vaccines.
Many people who have severe heart failure may need treatment in a hospital from time to time. Your doctor may recommend oxygen therapy, which can be given in a hospital or at home.
Medical Procedures and Surgery
As heart failure worsens, lifestyle changes and medicines may no longer control your symptoms. You may need a medical procedure or surgery.
In heart failure, the right and left sides of the heart may no longer contract at the same time. This disrupts the hearts pumping. To correct this problem, your doctor might implant a cardiac resynchronization therapy device (a type ofpacemaker) near your heart. This device helps both sides of your heart contract at the same time, which can decrease heart failure symptoms.
Some people who have heart failure have very rapid, irregular heartbeats. Without treatment, these heartbeats can causesudden cardiac arrest. Your doctor might implant an implantable cardioverter defibrillator (ICD) near your heart to solve this problem. An ICD checks your heart rate and uses electrical pulses to correct irregular heart rhythms.
People who have severe heart failure symptoms at rest, despite other treatments, may need:
A mechanical heart pump, such as aleft ventricular assist device. This device helps pump blood from the heart to the rest of the body. You may use a heart pump until you have surgery or as a long-term treatment.
Heart transplant. A heart transplant is an operation in which a persons diseased heart is replaced with a healthy heart from a deceased donor. Heart transplants are done as a life-saving measure for end-stage heart failure when medical treatment and less drastic surgery have failed. |
inheritance | Is metatropic dysplasia inherited ? | Metatropic dysplasia is considered an autosomal dominant disorder because one mutated copy of the TRPV4 gene in each cell is sufficient to cause the condition. Most cases of metatropic dysplasia are caused by new mutations in the gene and occur in people with no history of the disorder in their family. In a few reported cases, an affected person has inherited the condition from an affected parent. In the past, it was thought that the lethal type of metatropic dysplasia had an autosomal recessive pattern of inheritance, in which both copies of the gene in each cell have mutations. However, more recent research has confirmed that all metatropic dysplasia has an autosomal dominant pattern of inheritance. |
information | What is (are) McCune Albright syndrome ? | McCune-Albright syndrome (MAS) is a disease that affects the bones, skin, and several hormone-producing (endocrine) tissues. It is characterized by replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); patches of abnormal skin coloring with jagged borders (cafe-au-lait spots); and abnormalities in the glands that regulate the body's rate of growth, sexual development, and other metabolic functions (multiple endocrine dysfunction). MAS is caused by a change (mutation) in the GNAS gene that occurs by chance very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of MAS and its features depend on the number and location of cells that have the mutated GNAS gene. Because MAS occurs by chance, it is not inherited or passed down from one generation to the next. |
exams and tests | How to diagnose Chromosome 3p- syndrome ? | How is chromosome 3p- syndrome diagnosed? There are several different specialized tests that can be used to diagnose a chromosome 3p- syndrome. These include: Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions. FISH - a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for deletions that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a duplication of a specific region of 3p. Array CGH - a technology that detects deletions that are too small to be seen on karyotype. |
symptoms | What are the symptoms of Westphal disease ? | What are the signs and symptoms of Westphal disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Westphal disease. 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 movement 50% Abnormality of the voice 50% Behavioral abnormality 50% Cerebral cortical atrophy 50% Developmental regression 50% EEG abnormality 50% Hypertonia 50% Rigidity 7.5% Abnormality of eye movement - Autosomal dominant inheritance - Bradykinesia - Chorea - Dementia - Depression - Gliosis - Hyperreflexia - Neuronal loss in central nervous system - Personality changes - 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. |
frequency | How many people are affected by phosphoglycerate kinase deficiency ? | Phosphoglycerate kinase deficiency appears to be a rare disorder. About 30 families with affected members have been reported in the scientific literature. |
inheritance | Is glycogen storage disease type V inherited ? | This condition 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 each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
inheritance | Is Uncombable hair syndrome inherited ? | Is uncombable hair syndrome inherited? Uncombable hair syndrome (UHS) is thought to be inherited in an autosomal dominant manner with reduced penetrance. Autosomal dominant means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. Reduced penetrance means that not all people with a mutation in the responsible gene will have the condition. For this reason, conditions with reduced penetrance may appear to "skip a generation" or may appear to occur for the first time (or only once) in a family. While people with UHS often report a negative family history, the characteristic hair shaft abnormality seen in affected people can still be seen in unaffected family members by looking at their hair under a specific type of microscope. |
frequency | How many people are affected by abetalipoproteinemia ? | Abetalipoproteinemia is a rare disorder with approximately 100 cases described worldwide. |
treatment | What are the treatments for glucose phosphate isomerase deficiency ? | These resources address the diagnosis or management of GPI deficiency: - Genetic Testing Registry: Glucosephosphate isomerase deficiency - Genetic Testing Registry: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Diagnosed? - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Treated? 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 |
treatment | What are the treatments for Neurological Complications of AIDS ? | No single treatment can cure the neurological complications of AIDS. Some disorders require aggressive therapy while others are treated symptomatically.
Medicines range from analgesics sold over the counter to antiepileptic drugs, opiates, corticosteroids, and some classes of antidepressants. Other treatments include radiation therapy or chemotherapy to kill or shrink cancerous brain tumors that may be caused by HIV, antifungal or antimalarial drugs to combat certain bacterial infections, and penicillin to treat neurosyphilis. Aggressive antiretroviral therapy is used to treat AIDS dementia complex, PML, and cytomegalovirus encephalitis. HAART, or highly active antiretroviral therapy, combines at least three drugs to reduce the amount of virus circulating in the blood and may also delay the start of some infections. |
information | Do you have information about Farm Health and Safety | Summary : You might think of farms as peaceful settings. Actually, farming is one of the most dangerous jobs in the United States. Farms have many health and safety hazards, including - Chemicals and pesticides - Machinery, tools and equipment that can be dangerous - Hazardous areas, such as grain bins, silos and wells - Livestock that can spread diseases or cause injuries Farming injuries are very common. Physical labor and accidents can cause injuries. Most farm accidents involve machinery. Proper machine inspection and maintenance can help prevent accidents. Using safety gloves, goggles and other protective equipment can also reduce accidents. Occupational Safety and Health Administration |
symptoms | What are the symptoms of Richieri Costa Da Silva syndrome ? | What are the signs and symptoms of Richieri Costa Da Silva syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Richieri Costa Da Silva 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) Absent tibia - Autosomal 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. |
genetic changes | What are the genetic changes related to Cockayne syndrome ? | Cockayne syndrome can result from mutations in either the ERCC6 gene (also known as the CSB gene) or the ERCC8 gene (also known as the CSA gene). These genes provide instructions for making proteins that are involved in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals. Cells are usually able to fix DNA damage before it causes problems. However, in people with Cockayne syndrome, DNA damage is not repaired normally. As more abnormalities build up in DNA, cells malfunction and eventually die. The increased cell death likely contributes to the features of Cockayne syndrome, such as growth failure and premature aging. |
symptoms | What are the symptoms of Childhood Hodgkin Lymphoma ? | Signs of childhood Hodgkin lymphoma include swollen lymph nodes, fever, night sweats, and weight loss. These and other signs and symptoms may be caused by childhood Hodgkin lymphoma or by other conditions. Check with your child's doctor if your child has any of the following: - Painless, swollen lymph nodes near the collarbone or in the neck, chest, underarm, or groin. - Fever for no known reason. - Weight loss for no known reason. - Night sweats. - Fatigue. - Anorexia. - Itchy skin. - Pain in the lymph nodes after drinking alcohol. Fever, weight loss, and night sweats are called B symptoms. |
symptoms | What are the symptoms of Apparent mineralocorticoid excess ? | What are the signs and symptoms of Apparent mineralocorticoid excess? The Human Phenotype Ontology provides the following list of signs and symptoms for Apparent mineralocorticoid excess. 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) Autosomal recessive inheritance - Decreased circulating aldosterone level - Decreased circulating renin level - Failure to thrive - Hypertension - Hypertensive retinopathy - Hypokalemia - Metabolic alkalosis - Short stature - Small for gestational age - Variable expressivity - 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. |
information | What is (are) Fitz-Hugh-Curtis syndrome ? | Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge - are often present as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PID progresses to FHCS in some women. Fitz-Hugh-Curtis syndrome is treated with antibiotics. |
treatment | What are the treatments for Succinic semialdehyde dehydrogenase deficiency ? | How might succinic semialdehyde dehydrogenase deficiency be treated? Treatment of succinic semialdehyde dehydrogenase deficiency (SSADH) is generally symptomatic and typically focuses on the treatment of seizures and neurobehavioral disturbances. Antiepileptic drugs (AEDs) that have proven to be effective in treating the seizures associated with this condition include carbamazepine and lamotrigine (LTG). Medications such as methylphenidate, thioridazine, risperidal, fluoxetine, and benzodiazepines appear to be effective at treating anxiety, aggressiveness, inattention, and hallucinations. Additional treatments may include physical and occupational therapy, sensory integration, and/or speech therapy. |
information | What is (are) episodic ataxia ? | Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis affecting one side of the body (hemiplegia) may also occur during attacks. Additionally, some affected individuals have a muscle abnormality called myokymia during or between episodes. This abnormality can cause muscle cramping, stiffness, and continuous, fine muscle twitching that appears as rippling under the skin. Episodes of ataxia and other symptoms can begin anytime from early childhood to adulthood. They can be triggered by environmental factors such as emotional stress, caffeine, alcohol, certain medications, physical activity, and illness. The frequency of attacks ranges from several per day to one or two per year. Between episodes, some affected individuals continue to experience ataxia, which may worsen over time, as well as involuntary eye movements called nystagmus. Researchers have identified at least seven types of episodic ataxia, designated type 1 through type 7. The types are distinguished by their pattern of signs and symptoms, age of onset, length of attacks, and, when known, genetic cause. |
inheritance | Is myosin storage myopathy inherited ? | 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. |
information | What is (are) celiac disease ? | Celiac disease is a condition in which the immune system is abnormally sensitive to gluten, a protein found in wheat, rye, and barley. Celiac disease is an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Without a strict, lifelong gluten-free diet, inflammation resulting from immune system overactivity may cause a wide variety of signs and symptoms involving many parts of the body. Celiac disease can develop at any age after an individual starts eating foods containing gluten. The classic symptoms of the condition result from inflammation affecting the gastrointestinal tract. This inflammation damages the villi, which are small, finger-like projections that line the small intestine and provide a greatly increased surface area to absorb nutrients. In celiac disease, the villi become shortened and eventually flatten out. Intestinal damage causes diarrhea and poor absorption of nutrients, which may lead to weight loss. Abdominal pain, swelling (distention), and food intolerances are common in celiac disease. Inflammation associated with celiac disease may lead to an increased risk of developing certain gastrointestinal cancers such as cancers of the small intestine or esophagus. Inflammation and poor nutrient absorption may lead to problems affecting many other organs and systems of the body in affected individuals. These health problems may include iron deficiency that results in a low number of red blood cells (anemia), vitamin deficiencies, low bone mineral density (osteoporosis), itchy skin rashes (dermatitis herpetiformis), defects in the enamel of the teeth, chronic fatigue, joint pain, poor growth, delayed puberty, infertility, or repeated miscarriages. Neurological problems have also been associated with celiac disease; these include migraine headaches, depression, attention deficit hyperactivity disorder (ADHD), and recurrent seizures (epilepsy). Many people with celiac disease have one or more of these varied health problems but do not have gastrointestinal symptoms. This form of the condition is called nonclassic celiac disease. Researchers now believe that nonclassic celiac disease is actually more common than the classic form. Celiac disease often goes undiagnosed because many of its signs and symptoms are nonspecific, which means they may occur in many disorders. Most people who have one or more of these nonspecific health problems do not have celiac disease. On average, a diagnosis of celiac disease is not made until 6 to 10 years after symptoms begin. Some people have silent celiac disease, in which they have no symptoms of the disorder. However, people with silent celiac disease do have immune proteins in their blood (antibodies) that are common in celiac disease. They also have inflammatory damage to their small intestine that can be detected with a biopsy. In a small number of cases, celiac disease does not improve with a gluten-free diet and progresses to a condition called refractory sprue. Refractory sprue is characterized by chronic inflammation of the gastrointestinal tract, poor absorption of nutrients, and an increased risk of developing a type of cancer of the immune cells called T-cell lymphoma. |
symptoms | What are the symptoms of Anxiety Disorders ? | Excessive, Irrational Fear Each anxiety disorder has different symptoms, but all the symptoms cluster around excessive, irrational fear and dread. Unlike the relatively mild, brief anxiety caused by a specific event (such as speaking in public or a first date), severe anxiety that lasts at least six months is generally considered to be problem that might benefit from evaluation and treatment. Anxiety disorders commonly occur along with other mental or physical illnesses, including alcohol or substance abuse, which may mask anxiety symptoms or make them worse. In older adults, anxiety disorders often occur at the same time as depression, heart disease, diabetes, and other medical problems. In some cases, these other problems need to be treated before a person can respond well to treatment for anxiety. Symptoms of Generalized Anxiety Disorder (GAD) GAD develops slowly. It often starts during the teen years or young adulthood. Symptoms may get better or worse at different times, and often are worse during times of stress. People with GAD cant seem to get rid of their concerns, even though they usually realize that their anxiety is more intense than the situation warrants. They cant relax, startle easily, and have difficulty concentrating. Often they have trouble falling asleep or staying asleep. Physical symptoms that often accompany the anxiety include - fatigue - headaches - muscle tension - muscle aches - difficulty swallowing - trembling - twitching - irritability - sweating - nausea - lightheadedness - having to go to the bathroom frequently - feeling out of breath - hot flashes. fatigue headaches muscle tension muscle aches difficulty swallowing trembling twitching irritability sweating nausea lightheadedness having to go to the bathroom frequently feeling out of breath hot flashes. When their anxiety level is mild, people with GAD can function socially and hold down a job. Although they dont avoid certain situations as a result of their disorder, people with GAD can have difficulty carrying out the simplest daily activities if their anxiety is severe. Symptoms of Social Phobia In social phobia, a person fears being judged by others or of being embarrassed. This fear can get in the way of doing everyday things such as going to work, running errands or meeting with friends. People who have social phobia often know that they shouldn't be so afraid, but they can't control their fear. People with social phobia tend to - be very anxious about being with other people and have a hard time talking to them, even though they wish they could - be very self-conscious in front of other people and feel embarrassed - be very afraid that other people will judge them - worry for days or weeks before an event where other people will be - stay away from places where there are other people - have a hard time making friends and keeping friends - blush, sweat, or tremble around other people - feel nauseous or sick to their stomach when with other people. be very anxious about being with other people and have a hard time talking to them, even though they wish they could be very self-conscious in front of other people and feel embarrassed be very afraid that other people will judge them worry for days or weeks before an event where other people will be stay away from places where there are other people have a hard time making friends and keeping friends blush, sweat, or tremble around other people feel nauseous or sick to their stomach when with other people. Symptoms of Panic Disorder In panic disorder, a person has sudden, unexplained attacks of terror, and often feels his or her heart pounding. During a panic attack, a person feels a sense of unreality, a fear of impending doom, or a fear of losing control. Panic attacks can occur at any time. People with panic disorder may have - sudden and repeated attacks of fear - a feeling of being out of control during a panic attack - an intense worry about when the next attack will happen - a fear or avoidance of places where panic attacks have occurred in the past - physical symptoms during an attack, such as a pounding or racing heart, sweating, breathing problems, weakness or dizziness, feeling hot or a cold chill, tingly or numb hands, chest pain, or stomach pain. sudden and repeated attacks of fear a feeling of being out of control during a panic attack an intense worry about when the next attack will happen a fear or avoidance of places where panic attacks have occurred in the past physical symptoms during an attack, such as a pounding or racing heart, sweating, breathing problems, weakness or dizziness, feeling hot or a cold chill, tingly or numb hands, chest pain, or stomach pain. Seeking Treatment Anxiety disorders are treatable. If you think you have an anxiety disorder, talk to your doctor. If your doctor thinks you may have an anxiety disorder, the next step is usually seeing a mental health professional. It is advisable to seek help from professionals who have particular expertise in diagnosing and treating anxiety. Certain kinds of cognitive and behavioral therapy and certain medications have been found to be especially helpful for anxiety. |
information | What is (are) Primary CNS Lymphoma ? | Key Points
- Primary central nervous system (CNS) lymphoma is a disease in which malignant (cancer) cells form in the lymph tissue of the brain and/or spinal cord. - Having a weakened immune system may increase the risk of developing primary CNS lymphoma. - Tests that examine the eyes, brain, and spinal cord are used to detect (find) and diagnose primary CNS lymphoma. - Certain factors affect prognosis (chance of recovery) and treatment options.
Primary central nervous system (CNS) lymphoma is a disease in which malignant (cancer) cells form in the lymph tissue of the brain and/or spinal cord.
Lymphoma is a disease in which malignant (cancer) cells form in the lymph system. The lymph system is part of the immune system and is made up of the lymph, lymph vessels, lymph nodes, spleen, thymus, tonsils, and bone marrow. Lymphocytes (carried in the lymph) travel in and out of the central nervous system (CNS). It is thought that some of these lymphocytes become malignant and cause lymphoma to form in the CNS. Primary CNS lymphoma can start in the brain, spinal cord, or meninges (the layers that form the outer covering of the brain). Because the eye is so close to the brain, primary CNS lymphoma can also start in the eye (called ocular lymphoma). |
information | What is (are) maternally inherited diabetes and deafness ? | Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes. Some people with MIDD develop an eye disorder called macular retinal dystrophy, which is characterized by colored patches in the light-sensitive tissue that lines the back of the eye (the retina). This disorder does not usually cause vision problems in people with MIDD. Individuals with MIDD also may experience muscle cramps or weakness, particularly during exercise; heart problems; kidney disease; and constipation. Individuals with MIDD are often shorter than their peers. |
symptoms | What are the symptoms of Amyotonia congenita ? | What are the signs and symptoms of Amyotonia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotonia congenita. 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) Autosomal recessive inheritance - Skeletal muscle atrophy - 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. |
symptoms | What are the symptoms of Adiposis dolorosa ? | What are the signs and symptoms of Adiposis dolorosa? Adiposis dolorosa is primarily characterized by the development of muliple, painful lipomas (benign, fatty tumors). It is often associated with obesity; physical weakness and lack of energy; and various other symptoms including depression, confusion, dementia and/or epilepsy (seizures). The lipomas may occur anywhere in the body except the face and neck. The most common sites are the knees, upper thighs, back and upper arms. They may cause joint pain (arthralgia) when they are near the joints. Pain associated with the lipomas can be debilitating; it usually worsens with movement or an increase in body weight. Sparse pubic hair and underarm hair have been reported in some affected people. The condition can also be associated with early congestive heart failure, severe hypothyroidism, joint pain, flushing episodes, tremors, cyanosis, high blood pressure, headaches, and nosebleeds. The Human Phenotype Ontology provides the following list of signs and symptoms for Adiposis dolorosa. 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) Arthralgia 90% Obesity 90% Abnormal hair quantity 50% Arthritis 7.5% Autoimmunity 7.5% Bruising susceptibility 7.5% Constipation 7.5% Developmental regression 7.5% Diarrhea 7.5% Dry skin 7.5% Hypothyroidism 7.5% Keratoconjunctivitis sicca 7.5% Memory impairment 7.5% Migraine 7.5% Paresthesia 7.5% Seizures 7.5% Skin ulcer 7.5% Sleep disturbance 7.5% Telangiectasia of the skin 7.5% Xerostomia 7.5% Anxiety - Autosomal dominant inheritance - Chronic pain - Fatigue - Middle age onset - Painful subcutaneous lipomas - 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. |
inheritance | Is hypercholesterolemia inherited ? | Most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes. Inherited forms of hypercholesterolemia resulting from mutations in the LDLR, APOB, or PCSK9 gene have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder. An affected person typically inherits one altered copy of the gene from an affected parent and one normal copy of the gene from the other parent. Rarely, a person with familial hypercholesterolemia is born with two mutated copies of the LDLR gene. This situation occurs when the person has two affected parents, each of whom passes on one altered copy of the gene. The presence of two LDLR mutations results in a more severe form of hypercholesterolemia that usually appears in childhood. When hypercholesterolemia is caused by mutations in the LDLRAP1 gene, the condition is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means the condition results from two altered copies of the gene in each cell. The parents of an individual with autosomal recessive hypercholesterolemia each carry one copy of the altered gene, but their blood cholesterol levels are usually in the normal range. |
genetic changes | What are the genetic changes related to hemophilia ? | Changes in the F8 gene are responsible for hemophilia A, while mutations in the F9 gene cause hemophilia B. The F8 gene provides instructions for making a protein called coagulation factor VIII. A related protein, coagulation factor IX, is produced from the F9 gene. Coagulation factors are proteins that work together in the blood clotting process. After an injury, blood clots protect the body by sealing off damaged blood vessels and preventing excessive blood loss. Mutations in the F8 or F9 gene lead to the production of an abnormal version of coagulation factor VIII or coagulation factor IX, or reduce the amount of one of these proteins. The altered or missing protein cannot participate effectively in the blood clotting process. As a result, blood clots cannot form properly in response to injury. These problems with blood clotting lead to continuous bleeding that can be difficult to control. The mutations that cause severe hemophilia almost completely eliminate the activity of coagulation factor VIII or coagulation factor IX. The mutations responsible for mild and moderate hemophilia reduce but do not eliminate the activity of one of these proteins. Another form of the disorder, known as acquired hemophilia, is not caused by inherited gene mutations. This rare condition is characterized by abnormal bleeding into the skin, muscles, or other soft tissues, usually beginning in adulthood. Acquired hemophilia results when the body makes specialized proteins called autoantibodies that attack and disable coagulation factor VIII. The production of autoantibodies is sometimes associated with pregnancy, immune system disorders, cancer, or allergic reactions to certain drugs. In about half of cases, the cause of acquired hemophilia is unknown. |
genetic changes | What are the genetic changes related to Ollier disease ? | In most people with Ollier disease, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively. These enzymes convert a compound called isocitrate to another compound called 2-ketoglutarate. This reaction also produces a molecule called NADPH, which is necessary for many cellular processes. IDH1 or IDH2 gene mutations cause the enzyme produced from the respective gene to take on a new, abnormal function. Although these mutations have been found in some cells of enchondromas in people with Ollier disease, the relationship between the mutations and the signs and symptoms of the disorder is not well understood. Mutations in other genes may also account for some cases of Ollier disease. |
information | Do you have information about Liver Function Tests | Summary : Your liver helps your body digest food, store energy, and remove poisons. Liver function tests are blood tests that check to see how well your liver is working. They check for liver damage, and can help diagnose liver diseases such as hepatitis and cirrhosis. You may have liver function tests as part of a regular checkup. Or you may have them if you have symptoms of liver disease. Doctors also use the tests to monitor some liver diseases, treatments, and possible side effects of medicines. Liver function tests measure certain proteins, enzymes, and substances, including: - Albumin, a protein that the liver makes - Total protein (TP) - Enzymes that are found in the liver, including alanine transaminase (ALT), aspartate transaminase (AST), alkaline phosphatase (ALP), and gamma-glutamyl transpeptidase (GGT) - Bilirubin, a yellow substance that is part of bile. It is formed when your red blood cells break down. Too much bilirubin in the blood can cause jaundice. There is also a urine test for bilirubin. - Prothrombin time, which measures how long it takes for your blood to clot. Prothrombin is made by the liver. |
symptoms | What are the symptoms of Apert syndrome ? | What are the signs and symptoms of Apert syndrome? Apert syndrome is characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face, effectively resulting in a cone or tower shaped skull. In addition, a varied number of fingers and toes are fused together (syndactyly). Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Early fusion of the skull bones also affects the development of the brain, which can disrupt intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability. Individuals with Apert syndrome have webbed or fused fingers and toes (syndactyly). The severity of the fusion varies. Less commonly, people with this condition have extra fingers or toes (polydactyly). Additional signs and symptoms of Apert syndrome may include hearing loss, unusually heavy sweating (hyperhidrosis), oily skin with severe acne, patches of missing hair in the eyebrows, fusion of spinal bones in the neck (cervical vertebrae), and recurrent ear infections that may be associated with an opening in the roof of the mouth (a cleft palate). The Human Phenotype Ontology provides the following list of signs and symptoms for Apert 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) Conductive hearing impairment 90% Depressed nasal bridge 90% Frontal bossing 90% Malar flattening 90% Proptosis 90% Toe syndactyly 90% Abnormality of the fontanelles or cranial sutures 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the thumb 50% Cognitive impairment 50% Convex nasal ridge 50% Delayed eruption of teeth 50% Facial asymmetry 50% Hypertelorism 50% Hypertension 50% Mandibular prognathia 50% Strabismus 50% Vertebral segmentation defect 50% Arnold-Chiari malformation 7.5% Choanal atresia 7.5% Cleft palate 7.5% Cloverleaf skull 7.5% Corneal erosion 7.5% Ectopic anus 7.5% Hydrocephalus 7.5% Limb undergrowth 7.5% Optic atrophy 7.5% Ovarian neoplasm 7.5% Respiratory insufficiency 7.5% Sensorineural hearing impairment 7.5% Ventriculomegaly 7.5% Visual impairment 7.5% Postaxial hand polydactyly 5% Preaxial hand polydactyly 5% Absent septum pellucidum - Acne - Acrobrachycephaly - Agenesis of corpus callosum - Anomalous tracheal cartilage - Arachnoid cyst - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Bifid uvula - Brachyturricephaly - Broad distal hallux - Broad distal phalanx of the thumb - Broad forehead - Cervical vertebrae fusion (C5/C6) - Choanal stenosis - Chronic otitis media - Coronal craniosynostosis - Cryptorchidism - Cutaneous finger syndactyly - Delayed cranial suture closure - Dental malocclusion - Esophageal atresia - Flat face - Growth abnormality - Hearing impairment - High forehead - Humeroradial synostosis - Hydronephrosis - Hypoplasia of midface - Intellectual disability - Large fontanelles - Limbic malformations - Megalencephaly - Narrow palate - Overriding aorta - Posterior fossa cyst - Pyloric stenosis - Shallow orbits - Synostosis of carpal bones - Vaginal atresia - Ventricular septal defect - 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. |
information | What is (are) tibial muscular dystrophy ? | Tibial muscular dystrophy is a condition that affects the muscles at the front of the lower leg. The signs and symptoms of this condition typically appear after age 35. The first sign is usually weakness and wasting (atrophy) of a muscle in the lower leg called the tibialis anterior. This muscle helps control up-and-down movement of the foot. Weakness in the tibialis anterior muscle makes it difficult or impossible to walk on the heels, but it usually does not interfere significantly with regular walking. Muscle weakness worsens very slowly in people with tibial muscular dystrophy. Ten to 20 years after the onset of symptoms, weakness may develop in muscles that help extend the toes (long-toe extensors). Weakness in these muscles makes it difficult to lift the toes while walking, a condition known as foot drop. Later in life, about one third of people with tibial muscular dystrophy experience mild to moderate difficulty with walking because of weakness in other leg muscles. However, most affected individuals remain able to walk throughout their lives. A small percentage of people with tibial muscular dystrophy have a somewhat different pattern of signs and symptoms than those described above. Starting in childhood, these individuals may have generalized muscle weakness, weakness and atrophy of the thigh muscles (quadriceps) or other muscles in the legs, and weakness affecting muscles in the arms. |
information | What is (are) ulcerative colitis ? | Ulcerative colitis is a chronic disorder that affects the digestive system. This condition is characterized by abnormal inflammation of the inner surface of the rectum and colon, which make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestine. Ulcerative colitis usually appears between ages 15 and 30, although it can develop at any age. The inflammation tends to flare up multiple times throughout life, which causes recurring signs and symptoms. The most common symptoms of ulcerative colitis are abdominal pain and cramping and frequent diarrhea, often with blood, pus, or mucus in the stool. Other signs and symptoms include nausea, loss of appetite, fatigue, and fevers. Chronic bleeding from the inflamed and ulcerated intestinal tissue can cause a shortage of red blood cells (anemia) in some affected individuals. People with this disorder have difficulty absorbing enough fluids and nutrients from their diet and often experience weight loss. Affected children usually grow more slowly than normal. Less commonly, ulcerative colitis causes problems with the skin, joints, eyes, kidneys, or liver, which are most likely due to abnormal inflammation. Toxic megacolon is a rare complication of ulcerative colitis that can be life-threatening. Toxic megacolon involves widening of the colon and an overwhelming bacterial infection (sepsis). Ulcerative colitis also increases the risk of developing colon cancer, especially in people whose entire colon is inflamed and in people who have had ulcerative colitis for 8 or more years. Ulcerative colitis is one common form of inflammatory bowel disease (IBD). Another type of IBD, Crohn disease, also causes chronic inflammation of the intestines. Unlike ulcerative colitis, which affects only the inner surface of the large intestine, Crohn disease can cause inflammation in any part of the digestive system, and the inflammation extends deeper into the intestinal tissue. |
frequency | How many people are affected by hereditary leiomyomatosis and renal cell cancer ? | HLRCC has been reported in approximately 100 families worldwide. Its prevalence is unknown. |
treatment | What are the treatments for cystinuria ? | These resources address the diagnosis or management of cystinuria: - Genetic Testing Registry: Cystinuria - MedlinePlus Encyclopedia: Cystinuria - MedlinePlus Encyclopedia: Cystinuria (image) 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 |
inheritance | Is palmoplantar keratoderma with deafness inherited ? | Palmoplantar keratoderma with deafness can have different inheritance patterns. When this disorder is caused by GJB2 gene mutations, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, 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. When palmoplantar keratoderma with deafness is caused by mutations in the MT-TS1 gene, it is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mitochondrial DNA (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. |
information | What is (are) Vesicoureteral Reflux ? | Vesicoureteral reflux is the abnormal flow of urine from the bladder to the upper urinary tract. The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. Blood flows through the kidneys, and the kidneys filter out wastes and extra water, making urine. The urine travels down two narrow tubes called the ureters. The urine is then stored in a balloonlike organ called the bladder. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder.
In VUR, urine may flow backrefluxinto one or both ureters and, in some cases, to one or both kidneys. VUR that affects only one ureter and kidney is called unilateral reflux, and VUR that affects both ureters and kidneys is called bilateral reflux. |
exams and tests | How to diagnose Congenital anosmia ? | How is congenital anosmia diagnosed? Isolated congenital anosmia (not associated with other symptoms) is a diagnosis of exclusion. This means that the diagnosis is made in people with suspicious signs and symptoms once other conditions that cause similar features have been ruled out. When an affected person has no recollection of ever being able to smell, the following tests may be ordered to support a diagnosis of congenital anosmia: A thorough physical examination and medical history to look for other conditions that may interfere with the sense of smell Smell tests, particularly those that determine the smallest amount of odor that someone can detect Brain Imaging (such as CT scan and MRI scan) as some people with congenital anosmia have malformations in the portion of the brian that processes smells Nasal endoscopy to look for abnormalities of the nasal cavity which may interfere with sense of smell Olfactory nerve testing to evaluate disruptions in the pathway that carries information from the nose to the brain |
inheritance | Is warfarin sensitivity inherited ? | The polymorphisms associated with this condition are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to result in warfarin sensitivity. However, different polymorphisms affect the activity of warfarin to varying degrees. Additionally, people who have more than one polymorphism in a gene or polymorphisms in multiple genes associated with warfarin sensitivity have a lower tolerance for the drug's effect or take even longer to clear the drug from their body. |
treatment | What are the treatments for Williams Syndrome ? | There is no cure for Williams syndrome, nor is there a standard course of treatment. Because WS is an uncommon and complex disorder, multidisciplinary clinics have been established at several centers in the United States . Treatments are based on an individuals particular symptoms. People with WS require regular cardiovascular monitoring for potential medical problems, such as symptomatic narrowing of the blood vessels, high blood pressure, and heart failure |
information | What is (are) Prostate Cancer ? | The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy. Sometimes, however, the process goes wrong -- cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means not cancerous, or malignant, which means cancerous. |
symptoms | What are the symptoms of Hall Riggs mental retardation syndrome ? | What are the signs and symptoms of Hall Riggs mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hall Riggs mental retardation 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) Anteverted nares 90% Cognitive impairment 90% Epicanthus 90% Microcephaly 90% Neurological speech impairment 90% Short stature 90% Thick lower lip vermilion 90% Wide nasal bridge 90% Abnormality of epiphysis morphology 50% Abnormality of the metaphyses 50% Brachydactyly syndrome 50% Coarse hair 50% Delayed skeletal maturation 50% Downturned corners of mouth 50% Hypertelorism 50% Limb undergrowth 50% Nausea and vomiting 50% Platyspondyly 50% Scoliosis 50% Seizures 50% Slow-growing hair 50% Wide mouth 50% Abnormality of dental enamel 7.5% Delayed eruption of teeth 7.5% Limitation of joint mobility 7.5% Absent speech - Autosomal recessive inheritance - Depressed nasal bridge - Failure to thrive - Feeding difficulties in infancy - Hypoplasia of dental enamel - Hypoplasia of the primary teeth - Intellectual disability - Intrauterine growth retardation - Irregular vertebral endplates - Kyphosis - Metaphyseal dysplasia - Microdontia of primary teeth - Osteoporosis - Prominent nose - U-Shaped upper lip vermilion - 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. |
genetic changes | What are the genetic changes related to Kleefstra syndrome ? | Kleefstra syndrome is caused by the loss of the EHMT1 gene or by mutations that disable its function. The EHMT1 gene provides instructions for making an enzyme called euchromatic histone methyltransferase 1. Histone methyltransferases are enzymes that modify proteins called histones. Histones are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones, histone methyltransferases can turn off (suppress) the activity of certain genes, which is essential for normal development and function. Most people with Kleefstra syndrome are missing a sequence of about 1 million DNA building blocks (base pairs) on one copy of chromosome 9 in each cell. The deletion occurs near the end of the long (q) arm of the chromosome at a location designated q34.3, a region containing the EHMT1 gene. Some affected individuals have shorter or longer deletions in the same region. The loss of the EHMT1 gene from one copy of chromosome 9 in each cell is believed to be responsible for the characteristic features of Kleefstra syndrome in people with the 9q34.3 deletion. However, the loss of other genes in the same region may lead to additional health problems in some affected individuals. About 25 percent of individuals with Kleefstra syndrome do not have a deletion of genetic material from chromosome 9; instead, these individuals have mutations in the EHMT1 gene. Some of these mutations change single protein building blocks (amino acids) in euchromatic histone methyltransferase 1. Others create a premature stop signal in the instructions for making the enzyme or alter the way the gene's instructions are pieced together to produce the enzyme. These changes generally result in an enzyme that is unstable and decays rapidly, or that is disabled and cannot function properly. Either a deletion or a mutation affecting the EHMT1 gene results in a lack of functional euchromatic histone methyltransferase 1 enzyme. A lack of this enzyme impairs proper control of the activity of certain genes in many of the body's organs and tissues, resulting in the abnormalities of development and function characteristic of Kleefstra syndrome. |
causes | What causes What I need to know about Bladder Control for Women ? | Urine leakage has many possible causes. |
treatment | What are the treatments for warfarin sensitivity ? | These resources address the diagnosis or management of warfarin sensitivity: - Food and Drug Administration Medication Guide - MedlinePlus Drugs & Supplements: Warfarin - My46 Trait Profile - PharmGKB - WarfarinDosing.org 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 |
inheritance | Is Nakajo-Nishimura syndrome inherited ? | This condition 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 each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
information | What is (are) Congenital contractural arachnodactyly ? | Congenital contractural arachnodactyly (CCA) is a genetic disorder that is typically characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; "crumpled"-looking ears, and curvature of the spine (kyphoscoliosis). Other features might also be present and vary from person to person. CCA is caused by mutations in a gene called FBN2 gene and is inherited in an autosomal dominant pattern. CCA shares similiar signs and symptoms to Marfan syndrome; however, Marfan syndrome is not caused by mutations in the FBN2 gene. |
treatment | What are the treatments for atypical hemolytic-uremic syndrome ? | These resources address the diagnosis or management of atypical hemolytic-uremic syndrome: - Gene Review: Gene Review: Atypical Hemolytic-Uremic Syndrome - Genetic Testing Registry: Atypical hemolytic uremic syndrome - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 1 - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 2 - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 3 - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 4 - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 5 - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 6 - MedlinePlus Encyclopedia: Hemolytic Anemia - MedlinePlus Encyclopedia: Hemolytic-Uremic Syndrome - MedlinePlus Encyclopedia: Thrombocytopenia - National Institute of Diabetes and Digestive and Kidney Diseases: Kidney Failure: Choosing a Treatment That's Right for You 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 |
genetic changes | What are the genetic changes related to acute promyelocytic leukemia ? | The mutation that causes acute promyelocytic leukemia involves two genes, the PML gene on chromosome 15 and the RARA gene on chromosome 17. A rearrangement of genetic material (translocation) between chromosomes 15 and 17, written as t(15;17), fuses part of the PML gene with part of the RARA gene. The protein produced from this fused gene is known as PML-RAR. This mutation is acquired during a person's lifetime and is present only in certain cells. This type of genetic change, called a somatic mutation, is not inherited. The PML-RAR protein functions differently than the protein products of the normal PML and RARA genes. The protein produced from the RARA gene, RAR, is involved in the regulation of gene transcription, which is the first step in protein production. Specifically, this protein helps control the transcription of certain genes important in the maturation (differentiation) of white blood cells beyond the promyelocyte stage. The protein produced from the PML gene acts as a tumor suppressor, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way. The PML-RAR protein interferes with the normal function of both the PML and the RAR proteins. As a result, blood cells are stuck at the promyelocyte stage, and they proliferate abnormally. Excess promyelocytes accumulate in the bone marrow and normal white blood cells cannot form, leading to acute promyelocytic leukemia. The PML-RARA gene fusion accounts for up to 98 percent of cases of acute promyelocytic leukemia. Translocations involving the RARA gene and other genes have been identified in a few cases of acute promyelocytic leukemia. |
inheritance | Is spondylocostal dysostosis inherited ? | Spondylocostal dysostosis can have different inheritance patterns. Types 1, 2, 3, and 4 are 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 each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. AD spondylocostal dysostosis is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to cause the disorder, although in these cases no causative genes have been identified. The signs and symptoms of spondylocostal dysostosis are typically more severe with autosomal recessive inheritance. |
treatment | What are the treatments for Stroke ? | With stroke, treatment depends on the stage of the disease. There are three treatment stages for stroke: prevention, therapy immediately after stroke, and rehabilitation after stroke. Stroke treatments include medications, surgery, and rehabilitation. |
frequency | How many people are affected by head and neck squamous cell carcinoma ? | HNSCC is the seventh most common cancer worldwide. Approximately 600,000 new cases are diagnosed each year, including about 50,000 in the United States. HNSCC occurs most often in men in their 50s or 60s, although the incidence among younger individuals is increasing. |
inheritance | Is 5-alpha reductase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the SRD5A2 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Although people who are genetically female (with two X chromosomes in each cell) may inherit mutations in both copies of the SRD5A2 gene, their sexual development is not affected. The development of female sex characteristics does not require DHT, so a lack of steroid 5-alpha reductase 2 activity does not cause physical changes in these individuals. Only people who have mutations in both copies of the SRD5A2 gene and are genetically male (with one X and one Y chromosome in each cell) have the characteristic signs of 5-alpha reductase deficiency. |
treatment | What are the treatments for myoclonic epilepsy myopathy sensory ataxia ? | These resources address the diagnosis or management of MEMSA: - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Myoclonic epilepsy myopathy sensory ataxia - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease 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 |
treatment | What are the treatments for Mitochondrial complex II deficiency ? | How might mitochondrial complex II deficiency be treated? Treatment options for complex II deficiency may be similar to those for other mitochondrial disorders in general.[8677] The United Mitochondrial Disease Foundation (UMDF) provides detailed information on treatment through their Web site at: http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934635 We strongly recommend that you discuss this information with a healthcare provider. |
treatment | What are the treatments for Tumor necrosis factor receptor-associated periodic syndrome ? | How might tumor necrosis factor receptor-associated periodic syndrome (TRAPS) be treated? While there is no proven treatment for TRAPS, non steroidal anti-inflammatory drugs (NSAIDS) may be used to relieve symptoms of fever, and corticosteroids may be used to reduce severity of symptoms in most people. However, these medications typically don't decrease the frequency of attacks. Etanercept, a TNF inhibitor, has been shown to be effective but its efficacy tends to wane over time. Standard doses of etanercept twice a week have been shown to decrease the frequency, duration, and severity of attacks in some people and it may also reverse or slow the progression of amyloidosis. More studies are needed to evaluate this medication for TRAPS. Additional information about the treatment of TRAPS can be viewed on Medscape's Web site. |
information | What is (are) nail-patella syndrome ? | Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family. Nail abnormalities are seen in almost all individuals with nail-patella syndrome. The nails may be absent or underdeveloped and discolored, split, ridged, or pitted. The fingernails are more likely to be affected than the toenails, and the thumbnails are usually the most severely affected. In many people with this condition, the areas at the base of the nails (lunulae) are triangular instead of the usual crescent shape. Individuals with nail-patella syndrome also commonly have skeletal abnormalities involving the knees, elbows, and hips. The kneecaps (patellae) are small, irregularly shaped, or absent, and dislocation of the patella is common. Some people with this condition may not be able to fully extend their arms or turn their palms up while keeping their elbows straight. The elbows may also be angled outward (cubitus valgus) or have abnormal webbing. Many individuals with nail-patella syndrome have horn-like outgrowths of the iliac bones of the pelvis (iliac horns). These abnormal projections may be felt through the skin, but they do not cause any symptoms and are usually detected on a pelvic x-ray. Iliac horns are very common in people with nail-patella syndrome and are rarely, if ever, seen in people without this condition. Other areas of the body may also be affected in nail-patella syndrome, particularly the eyes and kidneys. Individuals with this condition are at risk of developing increased pressure within the eyes (glaucoma) at an early age. Some people develop kidney disease, which can progress to kidney failure. |
symptoms | What are the symptoms of Congenital dyserythropoietic anemia type 3 ? | What are the signs and symptoms of Congenital dyserythropoietic anemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital dyserythropoietic anemia type 3. 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) Autosomal dominant inheritance - Congenital hypoplastic anemia - Hemosiderinuria - Jaundice - Macrocytic anemia - 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. |
treatment | What are the treatments for infantile neuronal ceroid lipofuscinosis ? | These resources address the diagnosis or management of infantile neuronal ceroid lipofuscinosis: - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 1 - Genetic Testing Registry: Infantile neuronal ceroid lipofuscinosis 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 |
information | What is (are) Suicide ? | Suicide is the tenth most common cause of death in the United States. People may consider suicide when they are hopeless and can't see any other solution to their problems. Often it's related to serious depression, alcohol or substance abuse, or a major stressful event. People who have the highest risk of suicide are white men. But women and teens report more suicide attempts. If someone talks about suicide, you should take it seriously. Urge them to get help from their doctor or the emergency room, or call the National Suicide Prevention Lifeline at 1-800-273-TALK (8255). It is available 24/7. Therapy and medicines can help most people who have suicidal thoughts. Treating mental illnesses and substance abuse can reduce the risk of suicide. NIH: National Institute of Mental Health |
symptoms | What are the symptoms of Occipital horn syndrome ? | What are the signs and symptoms of Occipital horn syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Occipital horn 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 fontanelles or cranial sutures 90% Cerebral calcification 90% Cognitive impairment 90% Exostoses 90% Hyperextensible skin 90% Joint hypermobility 90% Abnormality of the liver 50% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the wrist 50% Aneurysm 50% Atypical scarring of skin 50% Brachydactyly syndrome 50% Bruising susceptibility 50% Elbow dislocation 50% Feeding difficulties in infancy 50% Hypothermia 50% Long philtrum 50% Muscular hypotonia 50% Narrow chest 50% Pectus carinatum 50% Pectus excavatum 50% Platyspondyly 50% Reduced bone mineral density 50% Synostosis of joints 50% Venous insufficiency 50% Abnormality of the fibula 7.5% Abnormality of the hip bone 7.5% Abnormality of the humerus 7.5% Abnormality of the pinna 7.5% Abnormality of the shoulder 7.5% Abnormality of the tibia 7.5% Bladder diverticulum 7.5% Coarse hair 7.5% Genu valgum 7.5% Hernia of the abdominal wall 7.5% High forehead 7.5% Kyphosis 7.5% Osteolysis 7.5% Pes planus 7.5% Recurrent urinary tract infections 7.5% Scoliosis 7.5% Bladder carcinoma - Broad clavicles - Broad ribs - Capitate-hamate fusion - Carotid artery tortuosity - Chronic diarrhea - Convex nasal ridge - Coxa valga - Hiatus hernia - High palate - Hydronephrosis - Joint laxity - Limited elbow extension - Limited knee extension - Long face - Long neck - Narrow face - Orthostatic hypotension - Osteoporosis - Pelvic bone exostoses - Persistent open anterior fontanelle - Redundant skin - Short clavicles - Short humerus - Soft skin - Ureteral obstruction - 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. |
treatment | What are the treatments for Nephrogenic diabetes insipidus ? | How might nephrogenic diabetes insipidus be treated? Management is usually best accomplished by a team of physicians and other healthcare professionals. The team may include a nutritionist, a pediatric (or adult) nephrologist or endocrinologist, and a clinical geneticist. The basis of management involves free access to drinking water and toilet facilities. Polyuria and polydipsia can be reduced up to 50% without disrupting appropriate levels of sodium in the blood through the use of thiazide diuretics hydrochlorothiazide, chlorothiazide) and/or other diuretics (i.e., potassium-sparing diuretic amiloride), dietary restriction of sodium, and nonsteroidal anti-inflammatory drugs (NSAIDs) such as indomethacin, which can potentially improve the ability of the body to concentrate urine and reduce urine output. |
outlook | What is the outlook for Developmental Dyspraxia ? | Developmental dyspraxia is a lifelong disorder. Many individuals are able to compensate for their disabilities through occupational and speech therapy. |
genetic changes | What are the genetic changes related to achondroplasia ? | Mutations in the FGFR3 gene cause achondroplasia. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researchers believe that these mutations cause the FGFR3 protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen with this disorder. |
genetic changes | What are the genetic changes related to essential tremor ? | The causes of essential tremor are unknown. Researchers are studying several areas (loci) on particular chromosomes that may be linked to essential tremor, but no specific genetic associations have been confirmed. Several genes as well as environmental factors likely help determine an individual's risk of developing this complex condition. The specific changes in the nervous system that account for the signs and symptoms of essential tremor are unknown. |
genetic changes | What are the genetic changes related to Costello syndrome ? | Mutations in the HRAS gene cause Costello syndrome. This gene provides instructions for making a protein called H-Ras, which is part of a pathway that helps control cell growth and division. Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active). The overactive protein directs cells to grow and divide constantly, which can lead to the development of cancerous and noncancerous tumors. It is unclear how mutations in the HRAS gene cause the other features of Costello syndrome, but many of the signs and symptoms probably result from cell overgrowth and abnormal cell division. Some people with signs and symptoms of Costello syndrome do not have an identified mutation in the HRAS gene. These individuals may actually have CFC syndrome or Noonan syndrome, which are caused by mutations in related genes. The proteins produced from these genes interact with one another and with the H-Ras protein as part of the same cell growth and division pathway. These interactions help explain why mutations in different genes can cause conditions with overlapping signs and symptoms. |
inheritance | Is microcephaly-capillary malformation syndrome inherited ? | This condition has an autosomal recessive pattern of inheritance, which means both copies of the STAMBP gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show signs and symptoms of the condition. At least one individual with microcephaly-capillary malformation syndrome inherited two mutated copies of the STAMBP gene through a mechanism called uniparental isodisomy. In this case, an error occurred during the formation of egg or sperm cells, and the child received two copies of the mutated gene from one parent instead of one copy from each parent. |
frequency | How many people are affected by Urinary Incontinence in Men ? | Urinary incontinence occurs in 11 to 34 percent of older men. Two to 11 percent of older men report daily UI.1 Although more women than men develop UI, the chances of a man developing UI increase with age because he is more likely to develop prostate problems as he ages. Men are also less likely to speak with a health care professional about UI, so UI in men is probably far more common than statistics show. Having a discussion with a health care professional about UI is the first step to fixing this treatable problem. |
information | What is (are) Alagille syndrome ? | Alagille syndrome is an inherited disorder in which a person has fewer than the normal number of small bile ducts inside the liver. It is a complex disorder that can affect other parts of the body including the heart, kidneys, blood vessels, eyes, face, and skeleton. Symptoms, including jaundice, pale, loose stools, and poor growth, typically develop in the first 2 years of life. Symptoms and symptom severity varies, even among people in the same family. Alagille syndrome is caused by mutations in the JAG1 and NOTCH2 genes. It is inherited in an autosomal dominant pattern. Treatment is symptomatic and supportive. In severe cases, liver transplant may be necessary. |
inheritance | Is Larsen syndrome inherited ? | 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. In some cases, 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. Autosomal recessive inheritance of Larsen syndrome has been reported in a small number of families. Autosomal recessive 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. In some of these cases, the appearance of autosomal recessive inheritance may actually result from multiple siblings in a family each inheriting a single altered gene from an unaffected parent who has an FLNB mutation only in some or all of their sperm or egg cells. When a mutation is present only in reproductive cells, it is known as germline mosaicism. A few rarer conditions with overlapping signs and symptoms and autosomal recessive inheritance have sometimes been diagnosed as Larsen syndrome, but they are now generally considered to be different disorders because they are typically more severe and are not caused by FLNB gene mutations. |
research | what research is being done for Tuberculosis (TB) ? | TB Epidemiologic Studies Consortium
The TB Epidemiologic Studies Consortium (TBESC) was established to strengthen, focus, and coordinate tuberculosis (TB) research. The TBESC is designed to build the scientific research capacities of state and metropolitan TB control programs, participating laboratories, academic institutions, hospitals, and both non- and for-profit organizations.
TB Trials Consortium
The TB Trials Consortium (TBTC) is a collaboration of North American and international clinical investigators whose mission is to conduct programmatically relevant research concerning the diagnosis, clinical management, and prevention of TB infection and disease.
Behavioral and Social Science Research
Behavioral and social science research has the potential to make a tremendous impact on TB elimination efforts. This research is needed to 1) understand how behaviors of both patients and providers affect TB-related care seeking, diagnosis, treatment success, and prevention; and 2) understand how other social, cultural, and environmental influences affect health seeking and treatment outcomes related to TB. |
information | What is (are) Knobloch syndrome ? | Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect. A characteristic feature of Knobloch syndrome is extreme nearsightedness (high myopia). In addition, several other eye abnormalities are common in people with this condition. Most affected individuals have vitreoretinal degeneration, which is breakdown (degeneration) of two structures in the eye called the vitreous and the retina. The vitreous is the gelatin-like substance that fills the eye, and the retina is the light-sensitive tissue at the back of the eye. Vitreoretinal degeneration often leads to separation of the retina from the back of the eye (retinal detachment). Affected individuals may also have abnormalities in the central area of the retina, called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Due to abnormalities in the vitreous, retina, and macula, people with Knobloch syndrome often develop blindness in one or both eyes. Another characteristic feature of Knobloch syndrome is a skull defect called an occipital encephalocele, which is a sac-like protrusion of the brain (encephalocele) through a defect in the bone at the base of the skull (occipital bone). Some affected individuals have been diagnosed with a different skull defect in the occipital region, and it is unclear whether the defect is always a true encephalocele. In other conditions, encephaloceles may be associated with intellectual disability; however, most people with Knobloch syndrome have normal intelligence. |
information | What is (are) Autism Spectrum Disorder ? | Autism spectrum disorder (ASD) is a neurological and developmental disorder that begins early in childhood and lasts throughout a person's life. It affects how a person acts and interacts with others, communicates, and learns. It includes what used to be known as Asperger syndrome and pervasive developmental disorders. It is called a "spectrum" disorder because people with ASD can have a range of symptoms. People with ASD might have problems talking with you, or they might not look you in the eye when you talk to them. They may also have restricted interests and repetitive behaviors. They may spend a lot of time putting things in order, or they may say the same sentence again and again. They may often seem to be in their "own world." At well-child checkups, the health care provider should check your child's development. If there are signs of ASD, your child will have a comprehensive evaluation. It may include a team of specialists, doing various tests and evaluations to make a diagnosis. The causes of ASD are not known. Research suggests that both genes and environment play important roles. There is currently no one standard treatment for ASD. There are many ways to increase your child's ability to grow and learn new skills. Starting them early can lead to better results. Treatments include behavior and communication therapies, skills training, and medicines to control symptoms. NIH: National Institute of Child Health and Human Development |
information | What is (are) focal dermal hypoplasia ? | Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. People with focal dermal hypoplasia have skin abnormalities present from birth, such as streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent (cutis aplasia), small clusters of veins on the surface of the skin (telangiectases), and streaks of slightly darker or lighter skin. These skin changes may cause pain, itching, irritation, or lead to skin infections. Wart-like growths called papillomas are usually not present at birth but develop with age. Papillomas typically form around the nostrils, lips, anus, and female genitalia. They may also be present in the throat, specifically in the esophagus or larynx, and can cause problems with swallowing, breathing, or sleeping. Papillomas can usually be surgically removed if necessary. Affected individuals may have small, ridged fingernails and toenails. Hair on the scalp can be sparse and brittle or absent. Many individuals with focal dermal hypoplasia have hand and foot abnormalities, including missing fingers or toes (oligodactyly), webbed or fused fingers or toes (syndactyly), and a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). X-rays can show streaks of altered bone density, called osteopathia striata, that do not cause any symptoms in people with focal dermal hypoplasia. Eye abnormalities are common in individuals with focal dermal hypoplasia, including small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. Affected individuals may also have incomplete development of the light-sensitive tissue at the back of the eye (retina) or the nerve that relays visual information from the eye to the brain (optic nerve). This abnormal development of the retina and optic nerve can result in a gap or split in these structures, which is called a coloboma. Some of these eye abnormalities do not impair vision, while others can lead to low vision or blindness. People with focal dermal hypoplasia may have distinctive facial features. Affected individuals often have a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). These facial characteristics are typically very subtle. An opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate) may also be present. About half of individuals with focal dermal hypoplasia have abnormalities of their teeth, especially the hard, white material that forms the protective outer layer of each tooth (enamel). Less commonly, abnormalities of the kidneys and gastrointestinal system are present. The kidneys may be fused together, which predisposes affected individuals to kidney infections but does not typically cause significant health problems. The main gastrointestinal abnormality that occurs in people with focal dermal hypoplasia is an omphalocele, which is an opening in the wall of the abdomen that allows the abdominal organs to protrude through the navel. The signs and symptoms of focal dermal hypoplasia vary widely, although almost all affected individuals have skin abnormalities. |
frequency | How many people are affected by primary myelofibrosis ? | Primary myelofibrosis is a rare condition that affects approximately 1 in 500,000 people worldwide. |
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