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information | What is (are) Apocrine carcinoma ? | Apocrine carcinoma is a cancer of a sweat gland. Apocrine carcionoma most often develops under the arm (the axilla), but it can develop on the scalp or other parts of the body. The cause of apocrine carcinoma is unknown. Apocrine carcinoma usually appears as a single, small, painless bump (nodule) that can vary in color and slowly increases in size. The average age at the time of diagnosis is 62 years of age, and twice as many men are affected than women. Most apocrine carcinomas can be treated and are not fatal. Treatment of apocrine carcinoma is surgery to remove as much of the cancer as possible. Additional treatments such as radiation therapy and chemotherapy have been used to treat this condition, but the usefulness of these treatments is unproven. |
prevention | How to prevent Sudden Cardiac Arrest ? | Ways to prevent death due to sudden cardiac arrest (SCA) differ depending on whether:
You've already had SCA
You've never had SCA but are at high risk for the condition
You've never had SCA and have no known risk factors for the condition
For People Who Have Survived Sudden Cardiac Arrest
If you've already had SCA, you're at high risk of having it again. Research shows that an implantable cardioverter defibrillator (ICD) reduces the chances of dying from a second SCA.An ICD is surgically placed under the skin in your chest or abdomen. The device has wires with electrodes on the ends that connect to your heart's chambers. The ICD monitors your heartbeat.
If the ICD detects a dangerous heart rhythm, it gives an electric shock to restore the heart's normal rhythm. Your doctor may give you medicine to limit irregular heartbeats that can trigger the ICD.
Implantable Cardioverter Defibrillator
An ICD isn't the same as a pacemaker. The devices are similar, but they have some differences. Pacemakers give off low-energy electrical pulses. They're often used to treat less dangerous heart rhythms, such as those that occur in the upper chambers of the heart. Most new ICDs work as both pacemakers and ICDs.
For People at High Risk for a First Sudden Cardiac Arrest
If you have severe coronary heart disease (CHD), you're at increased risk for SCA. This is especially true if you've recently had a heart attack.
Your doctor may prescribe a type of medicine called a beta blocker to help lower your risk for SCA. Your doctor also may discuss beginning statin treatment if you have an elevated risk for developing heart disease or having a stroke. Doctors usually prescribe statins for people who have:
Diabetes
Heart disease or had a prior stroke
High LDL cholesterol levels
Your doctor also may prescribe other medications to:
Decrease your chance of having a heart attack or dying suddenly.
Lower blood pressure.
Prevent blood clots, which can lead to heart attack or stroke.
Prevent or delay the need for a procedure or surgery, such as angioplasty or coronary artery bypass grafting.
Reduce your hearts workload and relieve coronary heart disease symptoms.
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 coronary heart disease.
Other treatments for coronary heart diseasesuch as percutaneous coronary intervention, also known as coronary angioplasty, or coronary artery bypass graftingalso may lower your risk for SCA. Your doctor also may recommend an ICD if youre at high risk for SCA.
For People Who Have No Known Risk Factors for Sudden Cardiac Arrest
CHD seems to be the cause of most SCAs in adults. CHD also is a major risk factor for angina (chest pain or discomfort) and heart attack, and it contributes to other heart problems.
Following a healthy lifestyle can help you lower your risk for CHD, SCA, and other heart problems. A heart-healthy lifestyle includes:
Heart-healthy eating
Maintaining a healthy weight
Managing stress
Physical activity
Quitting smoking
Heart-Healthy Eating
Heart-healthy eating is an important part of a heart-healthy lifestyle. Your doctor may recommend heart-healthy eating, 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 and meats.
Saturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5percent to 6percent 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 cholesterol levels. 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 2,300milligrams 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.
Limiting Alcohol
Try to limit alcohol intake. Too much alcohol can raise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain.
Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is:
12 ounces of beer
5 ounces of wine
1 ounces of liquor
Maintaining a Healthy Weight
Maintaining a healthy weight is important for overall health and can lower your risk for sudden cardiac arrest. 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 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 25.0 and 29.9 is considered overweight
Of 30.0 or higher is considered obese
A general goal to aim for is a BMI of less than 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 type2 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 3percent to 5percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol.
Managing Stress
Managing and coping with stress. Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. Consider healthy stress-reducing activities, such as:
A stress management program
Meditation
Physical activity
Relaxation therapy
Talking things out with friends or family
Physical Activity
Regular physical activity can lower your risk for coronary heart disease, sudden cardiac arrest, and other health problems. 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.
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.
Read more about physical activity at:
Physical Activity and Your Heart
U.S. Department of Health and Human Services, 2008 Physical Activity Guidelines for Americans
Quitting Smoking
People who smoke are more likely to have a heart attack than are people who dont smoke. The risk of having a heart attack increases with the number of cigarettes smoked each day. Smoking also raises your risk for stroke and lung diseases, such as chronic obstructive pulmonary disease (COPD) and lung cancer.
Quitting smoking can greatly reduce your risk for heart and lung diseases. Ask your doctor about programs and products that can help you quit. 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 how to quit smoking. |
information | What is (are) Warsaw breakage syndrome ? | Warsaw breakage syndrome is a condition that can cause multiple abnormalities. People with Warsaw breakage syndrome have intellectual disability that varies from mild to severe. They also have impaired growth from birth leading to short stature and a small head size (microcephaly). Affected individuals have distinctive facial features that may include a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks. Other common features include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) and heart malformations. |
information | What is (are) Smith-Lemli-Opitz syndrome ? | Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly). The signs and symptoms of Smith-Lemli-Opitz syndrome vary widely. Mildly affected individuals may have only minor physical abnormalities with learning and behavioral problems. Severe cases can be life-threatening and involve profound intellectual disability and major physical abnormalities. |
information | What is (are) Trichomoniasis ? | Trichomoniasis is a sexually transmitted disease caused by a parasite. You get it through sexual intercourse with an infected partner. Many people do not have any symptoms. If you do get symptoms, they usually happen within 5 to 28 days after being infected. Symptoms in women include - Yellow-green or gray discharge from the vagina - Discomfort during sex - Vaginal odor - Painful urination - Itching in or near the vagina Most men do not have symptoms. If they do, they may have a whitish discharge from the penis and painful or difficult urination and ejaculation. Lab tests can tell if you have the infection. Treatment is with antibiotics. If you are infected, you and your partner must be treated. Correct usage of latex condoms greatly reduces, but does not eliminate, the risk of catching or spreading trichomoniasis. NIH: National Institute of Allergy and Infectious Diseases |
genetic changes | What are the genetic changes related to hereditary sensory and autonomic neuropathy type V ? | Mutations in the NGF gene cause HSAN5. The NGF gene provides instructions for making a protein called nerve growth factor beta (NGF) that is important in the development and survival of nerve cells (neurons), including sensory neurons. The NGF protein functions by attaching (binding) to its receptors, which are found on the surface of neurons. Binding of the NGF protein to its receptor transmits signals to the cell to grow and to mature and take on specialized functions (differentiate). This binding also blocks signals in the cell that initiate the process of self-destruction (apoptosis). Additionally, NGF signaling plays a role in pain sensation. Mutation of the NGF gene leads to the production of a protein that cannot bind to the receptor and does not transmit signals properly. Without the proper signaling, sensory neurons die and pain sensation is altered, resulting in the inability of people with HSAN5 to feel pain. |
symptoms | What are the symptoms of Hypotrichosis simplex ? | What are the signs and symptoms of Hypotrichosis simplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypotrichosis simplex. 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) Hypotrichosis 100% Abnormality of the eyelashes 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Congenital, generalized hypertrichosis 50% Woolly hair 50% Hyperkeratosis 7.5% Pruritus 7.5% Autosomal dominant inheritance - 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. |
symptoms | What are the symptoms of Mandibuloacral dysplasia with type A lipodystrophy ? | What are the signs and symptoms of Mandibuloacral dysplasia with type A lipodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibuloacral dysplasia with type A lipodystrophy. 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 clavicle 90% Abnormality of the teeth 90% Alopecia 90% Aplasia/Hypoplasia of the skin 90% Limitation of joint mobility 90% Osteolysis 90% Prematurely aged appearance 90% Short distal phalanx of finger 90% Short stature 90% Wormian bones 90% Abnormality of lipid metabolism 50% Abnormality of the eyebrow 50% Insulin resistance 50% Proptosis 50% Abnormality of skin pigmentation 7.5% Abnormality of the palate 7.5% Arthralgia 7.5% Breast aplasia 7.5% Cataract 7.5% Hearing impairment 7.5% Lack of skin elasticity 7.5% Muscular hypotonia 7.5% Acroosteolysis of distal phalanges (feet) - Autosomal recessive inheritance - Bird-like facies - Calcinosis - Decreased subcutaneous fat - Delayed cranial suture closure - Dental crowding - Dermal atrophy - Flexion contracture - Full cheeks - Glucose intolerance - Heterogeneous - High palate - Hyperglycemia - Hyperinsulinemia - Hyperlipidemia - Hypoplasia of teeth - Increased adipose tissue around the neck - Increased facial adipose tissue - Insulin-resistant diabetes mellitus - Joint stiffness - Juvenile onset - Lipodystrophy - Loss of subcutaneous adipose tissue in limbs - Mottled pigmentation - Narrow nasal ridge - Osteolytic defects of the distal phalanges of the hand - Postnatal growth retardation - Premature loss of teeth - Progressive clavicular acroosteolysis - Short clavicles - 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. |
research | what research (or clinical trials) is being done for Colpocephaly ? | The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to colpocephaly and other cephalic disorders in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding ways to prevent brain abnormalities such as colpocephaly. |
treatment | What are the treatments for leukoencephalopathy with vanishing white matter ? | These resources address the diagnosis or management of leukoencephalopathy with vanishing white matter: - Gene Review: Gene Review: Childhood Ataxia with Central Nervous System Hypomelination/Vanishing White Matter - Genetic Testing Registry: Leukoencephalopathy with vanishing white matter 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 Septo-Optic Dysplasia ? | Treatment for SOD is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems associated with SOD are generally not treatable. Vision, physical, and occupational therapies may be required. |
information | Do you have information about Genetic Counseling | Summary : Genetic counseling provides information and support to people who have, or may be at risk for, genetic disorders. A genetic counselor meets with you to discuss genetic risks. The counseling may be for yourself or a family member. Or you may get it when you are planning or expecting a baby. You may follow up with genetic testing. There are many reasons to seek genetic counseling. You may consider it if you - Have a personal or family history of a genetic condition or birth defect - Are pregnant or planning to be pregnant after age 35 - Already have a child with a genetic disorder or birth defect - Have had two or more pregnancy losses or a baby who died - Have had ultrasound or screening tests that suggest a possible problem Genetics Home Reference |
treatment | What are the treatments for Marburg hemorrhagic fever (Marburg HF) ? | There is no specific treatment for Marburg hemorrhagic fever. Supportive hospital therapy should be utilized, which includes balancing the patient's fluids and electrolytes, maintaining oxygen status and blood pressure, replacing lost blood and clotting factors, and treatment for any complicating infections.
Experimental treatments are validated in non-human primates models, but have never been tried in humans. |
information | What is (are) Overweight and Obesity ? | Espaol
The terms "overweight" and "obesity" refer to body weight thats greater than what is considered healthy for a certain height.
The most useful measure of overweight and obesity is body mass index (BMI). BMI is calculated from your height and weight. For more information about BMI, go to "How Are Overweight and Obesity Diagnosed?"
Overview
Millions of Americans and people worldwide are overweight or obese. Being overweight or obese puts you at risk for many health problems. The more body fat that you have and the more you weigh, the more likely you are to develop:
Coronary heart disease
High blood pressure
Type 2 diabetes
Gallstones
Breathing problems
Certain cancers
Your weight is the result of many factors. These factors include environment, family history and genetics, metabolism (the way your body changes food and oxygen into energy), behavior or habits, and more.
You can't change some factors, such as family history. However, you can change other factors, such as your lifestyle habits.
For example, follow a healthy eating plan and keep your calorie needs in mind. Be physically active and try to limit the amount of time that you're inactive.
Weight-loss medicines and surgery also are options for some people if lifestyle changes aren't enough.
Outlook
Reaching and staying at a healthy weight is a long-term challenge for people who are overweight or obese. But it also is a chance to lower your risk for other serious health problems. With the right treatment and motivation, it's possible to lose weight and lower your long-term disease risk. |
treatment | What are the treatments for Down syndrome ? | These resources address the diagnosis or management of Down syndrome: - GeneFacts: Down Syndrome: Diagnosis - GeneFacts: Down Syndrome: Management - Genetic Testing Registry: Complete trisomy 21 syndrome - National Down Syndrome Congress: Health Care - National Down Syndrome Congress: Speech and Language - National Down Syndrome Society: Health Care - National Down Syndrome Society: Therapies and Development 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 glutaric acidemia type I ? | Mutations in the GCDH gene cause glutaric acidemia type I. The GCDH gene provides instructions for making the enzyme glutaryl-CoA dehydrogenase. This enzyme is involved in processing the amino acids lysine, hydroxylysine, and tryptophan. Mutations in the GCDH gene prevent production of the enzyme or result in the production of a defective enzyme that cannot function. This enzyme deficiency allows lysine, hydroxylysine and tryptophan and their intermediate breakdown products to build up to abnormal levels, especially at times when the body is under stress. The intermediate breakdown products resulting from incomplete processing of lysine, hydroxylysine, and tryptophan can damage the brain, particularly the basal ganglia, causing the signs and symptoms of glutaric acidemia type I. |
information | Do you have information about Bone Grafts | Summary : A bone graft transplants bone tissue. Surgeons use bone grafts to repair and rebuild diseased bones in your hips, knees, spine, and sometimes other bones and joints. Grafts can also repair bone loss caused by some types of fractures or cancers. Once your body accepts the bone graft, it provides a framework for growth of new, living bone. If the transplanted bone comes from another person, it is called an allograft. Most allograft bone comes from donors who have died. Tissue banks screen these donors and disinfect and test the donated bone to make sure it is safe to use. If the transplanted bone comes from another part of your own body, it is called an autograft. Autograft bone often comes from your ribs, hips or a leg. |
information | What is (are) Dry Eye ? | Dry eye occurs when the eye does not produce tears properly, or when the tears are of poor quality and dry up quickly. The eyes need tears for overall eye health and clear vision. Dry eye can last a short time or it can be an ongoing condition. It can include a variety of symptoms, such as discomfort and pain. Your eyes may sting and burn and you may have redness and a sandy or gritty feeling, as if something is in your eye. You may have blurry vision and you may feel eye fatigue. Having dry eyes can make it harder to do some activities, such as using a computer or reading for a long period of time, and it can make it hard to be in dry places, such as on an airplane. (This short video discusses causes, symptoms, and treatments for dry eye.) |
symptoms | What are the symptoms of Fine-Lubinsky syndrome ? | What are the signs and symptoms of Fine-Lubinsky syndrome? The signs and symptoms known to occur in people with Fine-Lubinsky syndrome (FLS) are based on reports of the few people who have been diagnosed and described in the medical literature. Numerous features have been reported and many of them vary among affected people. The key signs for diagnosis may include: non-synostotic brachycephaly or plagiocephaly (a deformity of the skull that is not due to bone fusion) structural brain anomalies abnormal electroencephalogram (EEG) intellectual disability deafness ocular (eye) abnormalities (cataracts or glaucoma) distinctive facial features (including a high/wide forehead; shallow eye orbits; a flat/round face; low-set, posteriorly-rotated ears; and an abnormally small mouth) body asymmetry, which may be present at birth (congenital) The Human Phenotype Ontology provides the following list of signs and symptoms for Fine-Lubinsky 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 eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Camptodactyly of finger 90% Cognitive impairment 90% Malar flattening 90% Muscular hypotonia 90% Plagiocephaly 90% Rocker bottom foot 90% Scoliosis 90% Sensorineural hearing impairment 90% Short stature 90% Tapered finger 90% Abnormality of the fingernails 50% Aplasia/Hypoplasia of the corpus callosum 50% Asymmetry of the thorax 50% Atresia of the external auditory canal 50% Brachydactyly syndrome 50% Broad forehead 50% Cataract 50% Cerebral cortical atrophy 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Depressed nasal bridge 50% Facial asymmetry 50% Glaucoma 50% High forehead 50% Hypertelorism 50% Intrauterine growth retardation 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Narrow mouth 50% Pectus excavatum 50% Seizures 50% Short nose 50% Short toe 50% Thin vermilion border 50% Ventriculomegaly 50% Finger syndactyly 7.5% Visual impairment 7.5% Hypoplasia of the corpus callosum 5% Long eyelashes 5% Megalocornea 5% Microtia 5% Shawl scrotum 5% Absent axillary hair - Brachycephaly - Breast hypoplasia - Camptodactyly - Cerebral atrophy - Flat face - Growth delay - Hearing impairment - Intellectual disability - Low-set ears - Pectus excavatum of inferior sternum - Posteriorly rotated ears - Scrotal hypoplasia - Shallow orbits - Sporadic - Superior pectus carinatum - 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 phosphoglycerate kinase deficiency ? | Phosphoglycerate kinase deficiency is caused by mutations in the PGK1 gene. This gene provides instructions for making an enzyme called phosphoglycerate kinase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy. Mutations in the PGK1 gene reduce the activity of phosphoglycerate kinase, which disrupts energy production and leads to cell damage or cell death. It is unclear why this abnormality preferentially affects red blood cells and brain cells in some people and muscle cells in others. Researchers speculate that different PGK1 gene mutations may have varying effects on the activity of phosphoglycerate kinase in different types of cells. |
exams and tests | How to diagnose Alzheimer's Disease ? | The time from diagnosis of Alzheimers disease to death varies. It can be as little as 3 or 4 years if the person is over 80 years old when diagnosed or as long as 10 years or more if the person is younger. |
information | What is (are) Lynch syndrome ? | Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, and skin. Additionally, women with this disorder have a high risk of cancer of the ovaries and lining of the uterus (the endometrium). People with Lynch syndrome may occasionally have noncancerous (benign) growths (polyps) in the colon, called colon polyps. In individuals with this disorder, colon polyps occur earlier but not in greater numbers than they do in the general population. |
inheritance | Is Gitelman 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. |
causes | What causes Hashimoto's encephalitis ? | What causes Hashimoto's encephalitis? The exact cause of Hashimoto's encephalitis (HE) is unknown, but is thought to relate to autoimmune or other autoinflammatory processes. While it is associated with Hashimoto's thyroiditis, the exact nature of the relationship between the two conditions is unclear. It does not appear to be directly related to hypothyroidism or hyperthyroidism. |
symptoms | What are the symptoms of Leukonychia totalis ? | What are the signs and symptoms of Leukonychia totalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukonychia totalis. 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 fingernails 90% Abnormality of the toenails 90% Adenoma sebaceum 90% Nephrolithiasis 90% Blepharitis 50% Photophobia 50% Type II diabetes mellitus 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Concave nail - Leukonychia - 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) Carotid Artery Disease ? | Carotid artery disease is a disease in which a waxy substance called plaque builds up inside the carotid arteries. You have two common carotid arteries, one on each side of your neck. They each divide into internal and external carotid arteries.
The internal carotid arteries supply oxygen-rich blood to your brain. The external carotid arteries supply oxygen-rich blood to your face, scalp, and neck.
Carotid Arteries
Carotid artery disease is serious because it can cause a stroke, also called a brain attack. A stroke occurs if blood flow to your brain is cut off.
If blood flow is cut off for more than a few minutes, the cells in your brain start to die. This impairs the parts of the body that the brain cells control. A stroke can cause lasting brain damage; long-term disability, such as vision or speech problems or paralysis (an inability to move); or death.
Overview
Carotid artery disease is a major cause of stroke in the United States. Over time, plaque hardens and narrows the arteries. This may limit the flow of oxygen-rich blood to your organs and other parts of your body.
Atherosclerosis can affect any artery in the body. For example, if plaque builds up in the coronary (heart) arteries, a heart attack can occur. If plaque builds up in the carotid arteries, a stroke can occur.
A stroke also can occur if blood clots form in the carotid arteries. This can happen if the plaque in an artery cracks or ruptures. Blood cell fragments called platelets (PLATE-lets) stick to the site of the injury and may clump together to form blood clots. Blood clots can partly or fully block a carotid artery.
A piece of plaque or a blood clot also can break away from the wall of the carotid artery. The plaque or clot can travel through the bloodstream and get stuck in one of the brain's smaller arteries. This can block blood flow in the artery and cause a stroke.
Carotid artery disease may not cause signs or symptoms until the carotid arteries are severely narrowed or blocked. For some people, a stroke is the first sign of the disease.
Outlook
Carotid artery disease is a major cause of stroke in the United States. Other conditions, such as certain heart problems and bleeding in the brain, also can cause strokes.Lifestyle changes, medicines, and medical procedures can help prevent or treat carotid artery disease and may reduce the risk of stroke.
If you think you're having a stroke, you need urgent treatment. Call 911 right away if you have symptoms of a stroke. Do not drive yourself to the hospital.You have the best chance for full recovery if treatment to open a blocked artery is given within 4 hours of symptom onset. The sooner treatment occurs, the better your chances of recovery. |
information | What is (are) Muckle-Wells syndrome ? | Muckle-Wells syndrome is a disorder characterized by periodic episodes of skin rash, fever, and joint pain. Progressive hearing loss and kidney damage also occur in this disorder. People with Muckle-Wells syndrome have recurrent "flare-ups" that begin during infancy or early childhood. These episodes may appear to arise spontaneously or be triggered by cold, heat, fatigue, or other stresses. Affected individuals typically develop a non-itchy rash, mild to moderate fever, painful and swollen joints, and in some cases redness in the whites of the eyes (conjunctivitis). Hearing loss caused by progressive nerve damage (sensorineural deafness) typically becomes apparent during the teenage years. Abnormal deposits of a protein called amyloid (amyloidosis) cause progressive kidney damage in about one-third of people with Muckle-Wells syndrome; these deposits may also damage other organs. In addition, pigmented skin lesions may occur in affected individuals. |
frequency | How many people are affected by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ? | IMAGe syndrome is very rare, with only about 20 cases reported in the medical literature. The condition has been diagnosed more often in males than in females, probably because females do not have associated genital abnormalities. |
frequency | How many people are affected by familial isolated hyperparathyroidism ? | The prevalence of familial isolated hyperparathyroidism is unknown. |
treatment | What are the treatments for Vulvar Cancer ? | Key Points
- There are different types of treatment for patients with vulvar cancer. - Four types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Biologic therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed.
There are different types of treatment for patients with vulvar cancer.
Different types of treatments are available for patients with vulvar cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.
Four types of standard treatment are used:
Surgery Surgery is the most common treatment for vulvar cancer. The goal of surgery is to remove all the cancer without any loss of the woman's sexual function. One of the following types of surgery may be done: - Laser surgery: A surgical procedure that uses a laser beam (a narrow beam of intense light) as a knife to make bloodless cuts in tissue or to remove a surface lesion such as a tumor. - Wide local excision: A surgical procedure to remove the cancer and some of the normal tissue around the cancer. - Radical local excision: A surgical procedure to remove the cancer and a large amount of normal tissue around it. Nearby lymph nodes in the groin may also be removed. - Ultrasound surgical aspiration (USA): A surgical procedure to break the tumor up into small pieces using very fine vibrations. The small pieces of tumor are washed away and removed by suction. This procedure causes less damage to nearby tissue. - Vulvectomy: A surgical procedure to remove part or all of the vulva: - Skinning vulvectomy: The top layer of vulvar skin where the cancer is found is removed. Skin grafts from other parts of the body may be needed to cover the area where the skin was removed. - Modified radical vulvectomy: Surgery to remove part of the vulva. Nearby lymph nodes may also be removed. - Radical vulvectomy: Surgery to remove the entire vulva. Nearby lymph nodes are also removed. - Pelvic exenteration: A surgical procedure to remove the lower colon, rectum, and bladder. The cervix, vagina, ovaries, and nearby lymph nodes are also removed. Artificial openings (stoma) are made for urine and stool to flow from the body into a collection bag. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may have chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External and internal radiation therapy are used to treat vulvar cancer, and external radiation therapy may also be used as palliative therapy to relieve symptoms and improve quality of life. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, a body cavity such as the abdomen, or onto the skin, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Topical chemotherapy for vulvar cancer may be applied to the skin in a cream or lotion. See Drugs Approved to Treat Vulvar Cancer for more information. Biologic therapy Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Imiquimod is a biologic therapy that may be used to treat vulvar lesions and is applied to the skin in a cream.
New types of treatment are being tested in clinical trials.
Information about clinical trials is available from the NCI website.
Patients may want to think about taking part in a clinical trial.
For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
Patients can enter clinical trials before, during, or after starting their cancer treatment.
Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.
Follow-up tests may be needed.
Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. It is important to have regular follow-up exams to check for recurrent vulvar cancer.
Treatment Options by Stage
Vulvar Intraepithelial Neoplasia (VIN): Treatment of vulvar intraepithelial neoplasia (VIN) may include the following: - Removal of single lesions or wide local excision. - Laser surgery. - Ultrasound surgical aspiration. - Skinning vulvectomy with or without a skin graft. - Biologic therapy with topical imiquimod.
- Stage I Vulvar Cancer: Treatment of stage I vulvar cancer may include the following: - Wide local excision for lesions that are less than 1 millimeter deep.. - Radical local excision and removal of nearby lymph nodes. - Radical local excision and sentinel lymph node biopsy. If cancer is found in the sentinel lymph node, nearby lymph nodes are also removed. - Radiation therapy for patients who cannot have surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I vulvar cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
- Stage II Vulvar Cancer: Treatment of stage II vulvar cancer may include the following: - Radical local excision and removal of nearby lymph nodes. - Modified radical vulvectomy or radical vulvectomy for large tumors. Nearby lymph nodes may be removed. Radiation therapy may be given after surgery. - Radical local excision and sentinel lymph node biopsy. If cancer is found in the sentinel lymph node, nearby lymph nodes are also removed. - Radiation therapy for patients who cannot have surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II vulvar cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
- Stage III Vulvar Cancer: Treatment of stage III vulvar cancer may include the following: - Modified radical vulvectomy or radical vulvectomy. Nearby lymph nodes may be removed. Radiation therapy may be given after surgery. - Radiation therapy or chemotherapy and radiation therapy followed by surgery. - Radiation therapy with or without chemotherapy for patients who cannot have surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III vulvar cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
- Stage IV Vulvar Cancer: Treatment of stage IVA vulvar cancer may include the following: - Radical vulvectomy and pelvic exenteration. - Radical vulvectomy followed by radiation therapy. - Radiation therapy or chemotherapy and radiation therapy followed by surgery. - Radiation therapy with or without chemotherapy for patients who cannot have surgery. There is no standard treatment for stage IVB vulvar cancer. Treatment may include a clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IVB vulvar cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
Treatment Options for Recurrent Vulvar Cancer
Treatment of recurrent vulvar cancer may include the following: - Wide local excision with or without radiation therapy to treat cancer that has come back in the same area.
- Radical vulvectomy and pelvic exenteration to treat cancer that has come back in the same area.
- Chemotherapy and radiation therapy with or without surgery.
- Radiation therapy followed by surgery or chemotherapy.
- Radiation therapy as palliative treatment to relieve symptoms and improve quality of life.
- A clinical trial of a new treatment.
Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent vulvar cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. |
exams and tests | How to diagnose Lung Cancer ? | Doctors can perform several tests to stage lung cancer. Staging means finding out how far the cancer has progressed. The following tests are used to stage lung cancer: - Computerized tomography or CAT scan is a computer linked to an x-ray machine that creates a series of detailed pictures of areas inside the body. Computerized tomography or CAT scan is a computer linked to an x-ray machine that creates a series of detailed pictures of areas inside the body. - Magnetic resonance imaging, or MRI, is a powerful magnet linked to a computer that makes detailed pictures of areas inside the body. - Radionuclide scanning uses a mildly radioactive substance to show whether cancer has spread to other organs, such as the liver. Magnetic resonance imaging, or MRI, is a powerful magnet linked to a computer that makes detailed pictures of areas inside the body. Radionuclide scanning uses a mildly radioactive substance to show whether cancer has spread to other organs, such as the liver. - A bone scan uses a small amount of a radioactive substance to show whether cancer has spread to the bones. - A mediastinoscopy or mediastinotomy can help show whether the cancer has spread to the lymph nodes in the chest by removing a tissue sample. The patient receives a general anesthetic for this procedure. A bone scan uses a small amount of a radioactive substance to show whether cancer has spread to the bones. A mediastinoscopy or mediastinotomy can help show whether the cancer has spread to the lymph nodes in the chest by removing a tissue sample. The patient receives a general anesthetic for this procedure. |
exams and tests | How to diagnose Aplastic Anemia ? | Your doctor will diagnose aplastic anemia based on your medical and family histories, a physical exam, and test results.
Once your doctor knows the cause and severity of the condition, he or she can create a treatment plan for you.
Specialists Involved
If your primary care doctor thinks you have aplastic anemia, he or she may refer you to a hematologist. A hematologist is a doctor who specializes in treating blood diseases and disorders.
Medical and Family Histories
Your doctor may ask questions about your medical history, such as whether:
You've had anemia or a condition that can cause anemia
You have shortness of breath, dizziness, headaches, or other signs and symptoms of anemia
You've been exposed to certain toxins or medicines
You've had radiation or chemotherapy (treatments for cancer)
You've had infections or signs of infections, such as fever
You bruise or bleed easily
Your doctor also may ask whether any of your family members have had anemia or other blood disorders.
Physical Exam
Your doctor will do a physical exam to check for signs of aplastic anemia. He or she will try to find out how severe the disorder is and what's causing it.
The exam may include checking for pale or yellowish skin and signs of bleeding or infection. Your doctor may listen to your heart and lungs for abnormal heartbeats and breathing sounds. He or she also may feel your abdomen to check the size of your liver and feel your legs for swelling.
Diagnostic Tests
Many tests are used to diagnose aplastic anemia. These tests help:
Confirm a diagnosis of aplastic anemia, look for its cause, and find out how severe it is
Rule out other conditions that may cause similar symptoms
Check for paroxysmal nocturnal hemoglobinuria (PNH)
Complete Blood Count
Often, the first test used to diagnose aplastic anemia is a complete blood count (CBC). The CBC measures many parts of your blood.
This test checks your hemoglobin and hematocrit (hee-MAT-oh-crit) levels. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A low level of hemoglobin or hematocrit is a sign of anemia.
The normal range of these levels varies in certain racial and ethnic populations. Your doctor can explain your test results to you.
The CBC also checks the number of red blood cells, white blood cells, and platelets in your blood. Abnormal results may be a sign of aplastic anemia, an infection, or another condition.
Finally, the CBC looks at mean corpuscular (kor-PUS-kyu-lar) volume (MCV). MCV is a measure of the average size of your red blood cells. The results may be a clue as to the cause of your anemia.
Reticulocyte Count
A reticulocyte (re-TIK-u-lo-site) count measures the number of young red blood cells in your blood. The test shows whether your bone marrow is making red blood cells at the correct rate. People who have aplastic anemia have low reticulocyte levels.
Bone Marrow Tests
Bone marrow tests show whether your bone marrow is healthy and making enough blood cells. The two bone marrow tests are aspiration (as-pi-RA-shun) and biopsy.
Bone marrow aspiration may be done to find out if and why your bone marrow isn't making enough blood cells. For this test, your doctor removes a small amount of bone marrow fluid through a needle. The sample is looked at under a microscope to check for faulty cells.
A bone marrow biopsy may be done at the same time as an aspiration or afterward. For this test, your doctor removes a small amount of bone marrow tissue through a needle.
The tissue is checked for the number and types of cells in the bone marrow. In aplastic anemia, the bone marrow has a lower than normal number of all three types of blood cells.
Other Tests
Other conditions can cause symptoms similar to those of aplastic anemia. Thus, other tests may be needed to rule out those conditions. These tests may include:
X ray, computed tomography (CT) scan, or an ultrasound imaging test. These tests can show enlarged lymph nodes in your abdomen. Enlarged lymph nodes may be a sign of blood cancer. Doctors also may use these tests to look at the kidneys and the bones in the arms and hands, which are sometimes abnormal in young people who have Fanconi anemia. This type of anemia can lead to aplastic anemia.
Chest x ray. This test creates pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. A chest x ray may be used to rule out infections.
Liver tests and viral studies. These tests are used to check for liver diseases and viruses.
Tests that check vitamin B12 and folate levels in the blood. These tests can help rule out anemia caused by vitamin deficiency.
Your doctor also may recommend blood tests for PNH and to check your immune system for proteins called antibodies. (Antibodies in the immune system that attack your bone marrow cells may cause aplastic anemia.) |
frequency | How many people are affected by chronic granulomatous disease ? | Chronic granulomatous disease is estimated to occur in 1 in 200,000 to 250,000 people worldwide. |
information | What is (are) Indigestion ? | Nearly everyone has had indigestion at one time. It's a feeling of discomfort or a burning feeling in your upper abdomen. You may have heartburn or belch and feel bloated. You may also feel nauseated, or even throw up. You might get indigestion from eating too much or too fast, eating high-fat foods, or eating when you're stressed. Smoking, drinking too much alcohol, using some medicines, being tired, and having ongoing stress can also cause indigestion or make it worse. Sometimes the cause is a problem with the digestive tract, like an ulcer or GERD. Avoiding foods and situations that seem to cause it may help. Because indigestion can be a sign of a more serious problem, see your health care provider if it lasts for more than two weeks or if you have severe pain or other symptoms. Your health care provider may use x-rays, lab tests, and an upper endoscopy to diagnose the cause. You may need medicines to treat the symptoms. NIH: National Institute of Diabetes and Digestive and Kidney Diseases |
information | What is (are) triosephosphate isomerase deficiency ? | Triosephosphate isomerase deficiency is a disorder characterized by a shortage of red blood cells (anemia), movement problems, increased susceptibility to infection, and muscle weakness that can affect breathing and heart function. The anemia in this condition begins in infancy. Since the anemia results from the premature breakdown of red blood cells (hemolysis), it is known as hemolytic anemia. A shortage of red blood cells to carry oxygen throughout the body leads to extreme tiredness (fatigue), pale skin (pallor), and shortness of breath. When the red cells are broken down, iron and a molecule called bilirubin are released; individuals with triosephosphate isomerase deficiency have an excess of these substances circulating in the blood. Excess bilirubin in the blood causes jaundice, which is a yellowing of the skin and the whites of the eyes. Movement problems typically become apparent by age 2 in people with triosephosphate isomerase deficiency. The movement problems are caused by impairment of motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. This impairment leads to muscle weakness and wasting (atrophy) and causes the movement problems typical of triosephosphate isomerase deficiency, including involuntary muscle tensing (dystonia), tremors, and weak muscle tone (hypotonia). Affected individuals may also develop seizures. Weakness of other muscles, such as the heart (a condition known as cardiomyopathy) and the muscle that separates the abdomen from the chest cavity (the diaphragm) can also occur in triosephosphate isomerase deficiency. Diaphragm weakness can cause breathing problems and ultimately leads to respiratory failure. Individuals with triosephosphate isomerase deficiency are at increased risk of developing infections because they have poorly functioning white blood cells. These immune system cells normally recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. The most common infections in people with triosephosphate isomerase deficiency are bacterial infections of the respiratory tract. People with triosephosphate isomerase deficiency often do not survive past childhood due to respiratory failure. In a few rare cases, affected individuals without severe nerve damage or muscle weakness have lived into adulthood. |
frequency | How many people are affected by pseudoxanthoma elasticum ? | PXE affects approximately 1 in 50,000 people worldwide. For reasons that are unclear, this disorder is diagnosed twice as frequently in females as in males. |
information | What is (are) lamellar ichthyosis ? | Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. This membrane usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward. People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin on most of their body. Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems. Affected individuals may also have hair loss (alopecia), abnormally formed fingernails and toenails (nail dystrophy), a decreased ability to sweat (hypohidrosis), an increased sensitivity to heat, and a thickening of the skin on the palms of the hands and soles of the feet (keratoderma). Less frequently, affected individuals have reddened skin (erythema) and joint deformities (contractures). |
frequency | How many people are affected by 6q24-related transient neonatal diabetes mellitus ? | Between 1 in 215,000 and 1 in 400,000 babies are born with diabetes mellitus. In about half of these babies, the diabetes is transient. Researchers estimate that approximately 70 percent of transient diabetes in newborns is caused by 6q24-related transient neonatal diabetes mellitus. |
research | what research (or clinical trials) is being done for Rett Syndrome ? | The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to Rett syndrome in laboratories at the NIH, and also support additional Rett syndrome research through grants to major medical institutions across the country. The discovery of the Rett syndrome gene in 1999 provides a basis for further genetic studies. Understanding the cause of this disorder is necessary for developing new therapies to manage specific symptoms, as well as for providing better methods of diagnosis. |
symptoms | What are the symptoms of Nystagmus 3, congenital, autosomal dominant ? | What are the signs and symptoms of Nystagmus 3, congenital, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Nystagmus 3, congenital, autosomal dominant. 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 - Horizontal jerk nystagmus - 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. |
considerations | What to do for Diabetes, Heart Disease, and Stroke ? | - If you have diabetes, you are at least twice as likely as other people to have heart disease or a stroke. - Controlling the ABCs of diabetesA1C (blood glucose), blood pressure, and cholesterol-can cut your risk of heart disease and stroke. - Choosing foods wisely, quitting smoking, and taking medications (if needed) can all help lower your risk of heart disease and stroke. - If you have any warning signs of a heart attack or a stroke, get medical care immediatelydon't delay. Early treatment of heart attack and stroke in a hospital emergency room can reduce damage to the heart and the brain. |
information | What is (are) cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ? | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. This condition affects blood flow in small blood vessels, particularly cerebral vessels within the brain. The muscle cells surrounding these blood vessels (vascular smooth muscle cells) are abnormal and gradually die. In the brain, the resulting blood vessel damage (arteriopathy) can cause migraines, often with visual sensations or auras, or recurrent seizures (epilepsy). Damaged blood vessels reduce blood flow and can cause areas of tissue death (infarcts) throughout the body. An infarct in the brain can lead to a stroke. In individuals with CADASIL, a stroke can occur at any time from childhood to late adulthood, but typically happens during mid-adulthood. People with CADASIL often have more than one stroke in their lifetime. Recurrent strokes can damage the brain over time. Strokes that occur in the subcortical region of the brain, which is involved in reasoning and memory, can cause progressive loss of intellectual function (dementia) and changes in mood and personality. Many people with CADASIL also develop leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). The age at which the signs and symptoms of CADASIL first begin varies greatly among affected individuals, as does the severity of these features. CADASIL is not associated with the common risk factors for stroke and heart attack, such as high blood pressure and high cholesterol, although some affected individuals might also have these health problems. |
treatment | What are the treatments for Ehlers-Danlos syndrome ? | These resources address the diagnosis or management of Ehlers-Danlos syndrome: - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Classic Type - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Hypermobility Type - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Kyphoscoliotic Form - Gene Review: Gene Review: Vascular Ehlers-Danlos Syndrome - Genetic Testing Registry: Ehlers-Danlos syndrome - Genetic Testing Registry: Ehlers-Danlos syndrome, musculocontractural type 2 - Genetic Testing Registry: Ehlers-Danlos syndrome, progeroid type, 2 - Genetic Testing Registry: Ehlers-Danlos syndrome, type 7A - MedlinePlus Encyclopedia: Ehlers-Danlos Syndrome 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 Pili torti ? | Are there new therapies for treatment of pili torti? In acquired pili torti, treatment involves stopping the exposure to the causative agent (e.g., to oral retinoids) or condition (e.g., improving diet). There is no specific treatment for the inherited form of pili torti. It may improve spontaneously after puberty. If pili torti is detected, further evaluation to investigate possible neurological disorders, problems with hair, teeth or nails (ectodermal disturbances) and hearing loss is mandatory. It is generally recommended that people with pili torti try to avoid trauma to the hair. Suggestions include, sleeping on a satin pillowcase, avoiding excessive grooming, braiding, heat treatments, dying and coloring, reducing exposure to sunlight (wear a hat), using gentle shampoos diluted in warm water, adding conditioner to freshly washed hair, avoiding use of a hair dryer (or using it on cool setting), and avoiding oral retinoids (e.g., isotretinoin, acitretin) if possible. Some individuals with pili torti choose to wear a wig. |
symptoms | What are the symptoms of Osteogenesis imperfecta ? | What are the signs and symptoms of Osteogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta. 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 dental color 90% Abnormality of dentin 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Abnormality of the tibia 90% Blue sclerae 90% Carious teeth 90% Convex nasal ridge 90% Decreased skull ossification 90% Gait disturbance 90% Intrauterine growth retardation 90% Macrocephaly 90% Pectus carinatum 90% Prominent occiput 90% Abnormal cortical bone morphology 50% Abnormal form of the vertebral bodies 50% Abnormality of the femur 50% Abnormality of the hip bone 50% Genu valgum 50% Glaucoma 50% Hyperhidrosis 50% Joint hypermobility 50% Narrow chest 50% Opacification of the corneal stroma 50% Reduced bone mineral density 50% Scoliosis 50% Slender long bone 50% Triangular face 50% Visual impairment 50% Abnormality of the endocardium 7.5% Hearing impairment 7.5% Kyphosis 7.5% Micromelia 7.5% Pectus excavatum 7.5% Recurrent fractures 7.5% Short stature 7.5% Subcutaneous hemorrhage 7.5% Thrombocytopenia 7.5% Umbilical hernia 7.5% Visceral angiomatosis 7.5% Wormian bones 7.5% 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) Hypolipoproteinemia ? | Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract. Associated genetic disorders includes abetalipoproteinemia, hypobetalipoproteinemia, and chylomicron retention disease. Symptoms of the genetic or familial form of hypolipoproteinemia varies. In hypobetalipoproteinemia the low density lipoprotein (LDL) cholesterol levels are very low, yet people with this syndrome typically have no symptoms nor require treatment. Other forms result in absent or near absent LDL levels and can cause serious symptoms in infancy and early childhood. |
exams and tests | How to diagnose Marburg hemorrhagic fever (Marburg HF) ? | Many of the signs and symptoms of Marburg hemorrhagic fever are similar to those of other more frequent infectious diseases, such as malaria or typhoid fever, making diagnosis of the disease difficult. This is especially true if only a single case is involved.
However, if a person has the early symptoms of Marburg HF and there is reason to believe that Marburg HF should be considered, the patient should be isolated and public health professionals notified. Samples from the patient can then be collected and tested to confirm infection.
Antigen-capture enzyme-linked immunosorbent assay (ELISA) testing, polymerase chain reaction (PCR), and IgM-capture ELISA can be used to confirm a case of Marburg HF within a few days of symptom onset. Virus isolation may also be performed but should only be done in a high containment laboratory with good laboratory practices. The IgG-capture ELISA is appropriate for testing persons later in the course of disease or after recovery. In deceased patients, immunohistochemistry, virus isolation, or PCR of blood or tissue specimens may be used to diagnose Marburg HF retrospectively. |
frequency | How many people are affected by otopalatodigital syndrome type 1 ? | Otopalatodigital syndrome type 1 is a rare disorder, affecting fewer than 1 in every 100,000 individuals. Its specific incidence is unknown. |
inheritance | Is 7q11.23 duplication syndrome inherited ? | 7q11.23 duplication syndrome is considered to be an autosomal dominant condition, which means one copy of chromosome 7 with the duplication in each cell is sufficient to cause the disorder. Most cases result from a duplication that occurs during the formation of reproductive cells (eggs and sperm) or in early fetal development. These cases occur in people with no history of the disorder in their family. Less commonly, an affected person inherits the chromosome with a duplicated segment from a parent. |
information | What is (are) Parasites - Lice - Body Lice ? | Body lice are parasitic insects that live on clothing and bedding used by infested persons. Body lice frequently lay their eggs on or near the seams of clothing. Body lice must feed on blood and usually only move to the skin to feed. Body lice exist worldwide and infest people of all races. Body lice infestations can spread rapidly under crowded living conditions where hygiene is poor (the homeless, refugees, victims of war or natural disasters). In the United States, body lice infestations are found only in homeless transient populations who do not have access to bathing and regular changes of clean clothes. Infestation is unlikely to persist on anyone who bathes regularly and who has at least weekly access to freshly laundered clothing and bedding. |
susceptibility | Who is at risk for Diabetic Retinopathy? ? | All people with diabetes -- both type 1 and type 2 -- are at risk for diabetic retinopathy. People with diabetes are also at increased risk for cataract and glaucoma. That's why everyone with diabetes should get a comprehensive dilated eye exam at least once a year. Between 40 to 45 percent of Americans diagnosed with diabetes have some stage of diabetic retinopathy. If you have diabetic retinopathy, your doctor can recommend treatment to help prevent its progression. See how to find an eye care professional. |
symptoms | What are the symptoms of Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome ? | What are the signs and symptoms of Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fibula 90% Abnormality of the tibia 90% Absent hand 90% Abnormality of the cardiovascular system 50% Finger syndactyly 50% Premature birth 50% Respiratory insufficiency 50% Short stature 50% Split hand 50% Tarsal synostosis 50% Abnormality of the hand - Autosomal dominant inheritance - Fibular aplasia - Oligodactyly (feet) - Oligodactyly (hands) - Phenotypic variability - Shortening of the tibia - Syndactyly - Tibial bowing - 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) Bone Cancer ? | Cancer that starts in a bone is uncommon. Cancer that has spread to the bone from another part of the body is more common. There are three types of bone cancer: - Osteosarcoma - occurs most often between ages 10 and 19. It is more common in the knee and upper arm. - Chondrosarcoma - starts in cartilage, usually after age 40 - Ewing's sarcoma - occurs most often in children and teens under 19. It is more common in boys than girls. The most common symptom of bone cancer is pain. Other symptoms vary, depending on the location and size of the cancer. Surgery is often the main treatment for bone cancer. Other treatments may include amputation, chemotherapy, and radiation therapy. Because bone cancer can come back after treatment, regular follow-up visits are important. NIH: National Cancer Institute |
inheritance | Is Carney complex inherited ? | Carney complex 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 approximately 80 percent of cases, an affected person inherits the mutation from one affected parent. The remaining cases result from new mutations in the gene and occur in people with no history of Carney complex in their family. |
information | What is (are) Bednar tumor ? | Bednar tumor is a rare variant of dermatofibrosarcoma protuberans (DFSP), a soft tissue sarcoma that develops in the deep layers of the skin. It accounts for approximately 1% of all DFSP cases. Bednar tumor is also known as pigmented DFSP because it contains dark-colored cells that give may give the tumor a multi-colored (i.e red and brown) appearance. The tumor may begin as a painless, slow-growing papule or patch of skin; however, accelerated growth, bleeding and/or pain are often observed as it grows. The underlying cause of Bednar tumor is unknown. There is currently no evidence of an inherited risk for the condition and most cases occur sporadically in people with no family history of the condition. Treatment varies based on the severity of the condition, the location of the tumor and the overall health of the affected person. The tumor is generally treated with surgery. In advanced cases, radiation therapy and/or systemic therapy may be recommended, as well. |
treatment | What are the treatments for cutis laxa ? | These resources address the diagnosis or management of cutis laxa: - Gene Review: Gene Review: ATP6V0A2-Related Cutis Laxa - Gene Review: Gene Review: ATP7A-Related Copper Transport Disorders - Gene Review: Gene Review: EFEMP2-Related Cutis Laxa - Gene Review: Gene Review: FBLN5-Related Cutis Laxa - Genetic Testing Registry: Autosomal recessive cutis laxa type IA - Genetic Testing Registry: Cutis laxa with osteodystrophy - Genetic Testing Registry: Cutis laxa, X-linked - Genetic Testing Registry: Cutis laxa, autosomal dominant - MedlinePlus Encyclopedia: Colon Diverticula (image) - MedlinePlus Encyclopedia: Emphysema (image) - MedlinePlus Encyclopedia: Hernia 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 Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ? | How might non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency be treated? In some cases, people affected by non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) may not require any treatment. Many are asymptomatic throughout their lives, although symptoms may develop during puberty, after puberty, or post partum. If symptoms are present, a glucocorticoid called dexamethasone is often recommended. Dexamethasone can treat irregular menstruation, acne, and excess body hair (hirsutism). |
frequency | How many people are affected by asphyxiating thoracic dystrophy ? | Asphyxiating thoracic dystrophy affects an estimated 1 in 100,000 to 130,000 people. |
information | What is (are) Gerstmann-Straussler-Scheinker Disease ? | Gerstmann-Straussler-Scheinker disease (GSS) is an extremely rare, neurodegenerative brain disorder. It is almost always inherited and is found in only a few families around the world. Onset of the disease usually occurs between the ages of 35 and 55. In the early stages, patients may experience varying levels of ataxia (lack of muscle coordination), including clumsiness, unsteadiness, and difficulty walking. As the disease progresses, the ataxia becomes more pronounced and most patients develop dementia. Other symptoms may include dysarthria (slurring of speech), nystagmus (involuntary movements of the eyes), spasticity (rigid muscle tone), and visual disturbances, sometimes leading to blindness. Deafness also can occur. In some families, parkinsonian features are present. GSS belongs to a family of human and animal diseases known as the transmissible spongiform encephalopathies (TSEs). Other TSEs include Creutzfeldt-Jakob disease, kuru, and fatal familial insomnia. |
research | what research (or clinical trials) is being done for Mitochondrial Myopathy ? | The NINDS conducts and supports research on mitochondrial myopathies. The goals of this research are to increase scientific understanding of these disorders and to find ways to effectively treat, prevent, or potentially cure them. |
treatment | What are the treatments for 17-beta hydroxysteroid dehydrogenase 3 deficiency ? | These resources address the diagnosis or management of 17-beta hydroxysteroid dehydrogenase 3 deficiency: - Genetic Testing Registry: Testosterone 17-beta-dehydrogenase deficiency - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Intersex 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 Situs inversus inherited ? | Is situs inversus inherited? The genetics of situs inversus is complex. Several familial cases have been reported in which the inheritance has been described as either autosomal recessive (most commonly), autosomal dominant, or X-linked. The condition appears to be genetically heterogeneous, meaning that different genetic factors or genes may cause the condition among different people or families. If situs inversus is associated with another underlying syndrome or condition, the inheritance pattern may be the same as that of the underlying condition. People with questions about genetic risks to themselves or family members are encouraged to speak with a genetics professional. |
information | Do you have information about Sexual Health | Summary : Sexuality is a big part of being human. Love, affection and sexual intimacy all play a role in healthy relationships. They also contribute to your sense of well-being. A number of disorders can affect the ability to have or enjoy sex in both men and women. Factors that can affect sexual health include - Fear of unplanned pregnancy - Concerns about infertility - Sexually transmitted diseases - Chronic diseases such as cancer or heart disease - Medicines that affect sexual desire or performance |
symptoms | What are the symptoms of Langer mesomelic dysplasia ? | What are the signs and symptoms of Langer mesomelic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Langer mesomelic dysplasia. 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 epiphysis morphology 90% Abnormality of the femur 90% Abnormality of the fibula 90% Abnormality of the palate 90% Madelung deformity 90% Micromelia 90% Short stature 90% Ulnar deviation of finger 90% Autosomal recessive inheritance - Broad ulna - Hypoplasia of the radius - Hypoplasia of the ulna - Lumbar hyperlordosis - Mesomelia - Mesomelic short stature - Radial bowing - Rudimentary fibula - Short femoral neck - Shortening of the tibia - 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 Bart-Pumphrey syndrome ? | Bart-Pumphrey syndrome is a rare disorder; its exact prevalence is unknown. Only a few affected families and individual cases have been identified. |
inheritance | Is Meige disease inherited ? | Meige disease appears to 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, although no genes have been associated with Meige disease. People with Meige disease usually have at least one other affected family member. In most cases, an affected person has one parent with the condition. When the condition occurs in only one person in a family, the condition is described as Meige-like disease. |
treatment | What are the treatments for Donohue syndrome ? | These resources address the diagnosis or management of Donohue syndrome: - Genetic Testing Registry: Leprechaunism syndrome 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 |
symptoms | What are the symptoms of Norum disease ? | What are the signs and symptoms of Norum disease? Norum disease is marked by low plasma HDL levels and corneal clouding due to accumulation of cholesterol deposits in the cornea ('fish-eye'). Corneal opacity is often present at birth, beginning at the periphery of the cornea and progressing gradually to the center. Hemolytic anemia, and proteinuria are other common findings. This condition may also present with: Papilledema (swelling of the optic nerve) with impaired ocular blood supply, leading to functional visual loss Signs of renal insufficiency, including hypertension Signs of atherosclerosis Xanthelasma (in end-stage disease) Hepatomegaly Splenomegaly Lymphadenopathy The Human Phenotype Ontology provides the following list of signs and symptoms for Norum 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) Autosomal recessive inheritance - Hemolytic anemia - Hypertriglyceridemia - Hypoalphalipoproteinemia - Normochromic anemia - Opacification of the corneal stroma - Proteinuria - Renal insufficiency - 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. |
susceptibility | Who is at risk for Bronchiectasis? ? | People who have conditions that damage the lungs or increase the risk of lung infections are at risk for bronchiectasis. Such conditions include:
Cystic fibrosis. This disease leads to almost half of the cases of bronchiectasis in the United States.
Immunodeficiency disorders, such as common variable immunodeficiency and, less often, HIV and AIDS.
Allergic bronchopulmonary aspergillosis. This is an allergic reaction to a fungus called aspergillus. The reaction causes swelling in the airways.
Disorders that affect cilia function, such as primary ciliary dyskinesia. Cilia are small, hair-like structures that line your airways. They help clear mucus (a slimy substance) out of your airways.
Bronchiectasis can develop at any age. Overall, two-thirds of people who have the condition are women. However, in children, the condition is more common in boys than in girls. |
information | Do you have information about Adoption | Summary : Adoption brings a child born to other parents into a new family. Birth parents have a number of reasons for placing children for adoption. Overall, they want better lives for their children than they think they can give them. Children who are eligible for adoption come from many different settings. Some are in foster care, a temporary home setting. Other children live in orphanages or with birth relatives until they can be adopted. There are different kinds of adoption. Children may be adopted by a relative or a new family. Some parents adopt children from the U.S, and some adopt from abroad. |
causes | What causes Diverticular Disease ? | Scientists are not certain what causes diverticulosis and diverticular disease. For more than 50 years, the most widely accepted theory was that a low-fiber diet led to diverticulosis and diverticular disease. Diverticulosis and diverticular disease were first noticed in the United States in the early 1900s, around the time processed foods were introduced into the American diet. Consumption of processed foods greatly reduced Americans fiber intake. Diverticulosis and diverticular disease are common in Western and industrialized countriesparticularly the United States, England, and Australiawhere low-fiber diets are common. The condition is rare in Asia and Africa, where most people eat high-fiber diets.1 Two large studies also indicate that a low-fiber diet may increase the chance of developing diverticular disease.2
However, a recent study found that a low-fiber diet was not associated with diverticulosis and that a high-fiber diet and more frequent bowel movements may be linked to an increased rather than decreased chance of diverticula.3
Other studies have focused on the role of decreased levels of the neurotransmitter serotonin in causing decreased relaxation and increased spasms of the colon muscle. A neurotransmitter is a chemical that helps brain cells communicate with nerve cells. However, more studies are needed in this area.
Studies have also found links between diverticular disease and obesity, lack of exercise, smoking, and certain medications including nonsteroidal anti-inflammatory drugs, such as aspirin, and steroids.3
Scientists agree that with diverticulitis, inflammation may begin when bacteria or stool get caught in a diverticulum. In the colon, inflammation also may be caused by a decrease in healthy bacteria and an increase in disease-causing bacteria. This change in the bacteria may permit chronic inflammation to develop in the colon.
What is fiber? Fiber is a substance in foods that comes from plants. Fiber helps soften stool so it moves smoothly through the colon and is easier to pass. Soluble fiber dissolves in water and is found in beans, fruit, and oat products. Insoluble fiber does not dissolve in water and is found in whole-grain products and vegetables. Both kinds of fiber help prevent constipation. Constipation is a condition in which an adult has fewer than three bowel movements a week or has bowel movements with stools that are hard, dry, and small, making them painful or difficult to pass. High-fiber foods also have many benefits in preventing and controlling chronic diseases, such as cardiovascular disease, obesity, diabetes, and cancer.2 |
symptoms | What are the symptoms of Char syndrome ? | What are the signs and symptoms of Char syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Char 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) Depressed nasal bridge 90% Depressed nasal ridge 90% Hypertelorism 90% Malar flattening 90% Patent ductus arteriosus 90% Ptosis 90% Short philtrum 90% Thick lower lip vermilion 90% Clinodactyly of the 5th finger 50% Cognitive impairment 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Hearing impairment 7.5% Myopia 7.5% Prominent occiput 7.5% Reduced consciousness/confusion 7.5% Reduced number of teeth 7.5% Strabismus 7.5% Supernumerary nipple 7.5% Symphalangism affecting the phalanges of the hand 7.5% Toe syndactyly 7.5% Ventricular septal defect 7.5% Autosomal dominant inheritance - Broad forehead - Broad nasal tip - Distal/middle symphalangism of 5th finger - Highly arched eyebrow - Intellectual disability, mild - Low-set ears - Protruding ear - Thick eyebrow - Triangular mouth - 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 Milroy disease ? | Milroy disease is a rare disorder; its incidence is unknown. |
inheritance | Is ulcerative colitis inherited ? | The inheritance pattern of ulcerative colitis is unknown because many genetic and environmental factors are likely to be involved. Even though the inheritance pattern of this condition is unclear, having a family member with ulcerative colitis increases the risk of developing the condition. |
treatment | What are the treatments for spondylothoracic dysostosis ? | These resources address the diagnosis or management of spondylothoracic dysostosis: - Cleveland Clinic: Spine X-ray - Gene Review: Gene Review: Spondylocostal Dysostosis, Autosomal Recessive 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) Severe intellectual disability-progressive spastic diplegia syndrome ? | Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person. |
genetic changes | What are the genetic changes related to Asperger syndrome ? | While genetic factors are believed to contribute to the development of Asperger syndrome, no related genes have been confirmed. It is unclear whether certain gene variations that are being studied in other autism spectrum disorders will play a role in Asperger syndrome. It appears likely that a combination of genetic variations and environmental factors influence the development of this complex condition. Asperger syndrome is a disorder of brain development. Researchers have identified differences in the structure and function of specific regions of the brain between children with Asperger syndrome and unaffected children. These differences likely arise during development before birth, when cells in the brain are migrating to their proper places. The differences in brain development that occur in Asperger syndrome appear to affect areas of the brain involved in thought, behavior, and emotions, such as the prefrontal cortex, the amygdala, and the fusiform face area. In particular, cognitive functions called theory of mind, central coherence, and executive function are affected. Theory of mind is the ability to understand that other people have their own ideas, emotions, and perceptions, and to empathize with them. It is related to the proper functioning of a brain mechanism called the mirror neuron system, which is normally active both when certain actions are performed and when others are observed performing the same actions. Researchers believe that the mirror neuron system is impaired in people with Asperger syndrome. Central coherence is the ability to integrate individual perceptions into a larger context, commonly known as "seeing the big picture." For example, a person with Asperger syndrome may be able to describe individual trees in great detail without recognizing that they are part of a forest. Executive function is the ability to plan and implement actions and develop problem-solving strategies. This function includes skills such as impulse control, self-monitoring, focusing attention appropriately, and cognitive flexibility. People with deficits in these skills may have difficulty in some activities of daily living and in social interactions. The differences in cognitive functioning observed in people with Asperger syndrome are believed to give rise to the behavioral patterns characteristic of this condition. |
genetic changes | What are the genetic changes related to caudal regression syndrome ? | Caudal regression syndrome is a complex condition that may have different causes in different people. The condition is likely caused by the interaction of multiple genetic and environmental factors. One risk factor for the development of caudal regression syndrome is the presence of diabetes in the mother. It is thought that increased blood sugar levels and other metabolic problems related to diabetes may have a harmful effect on a developing fetus, increasing the likelihood of developing caudal regression syndrome. The risks to the fetus are further increased if the mother's diabetes is poorly managed. Caudal regression syndrome also occurs in infants of non-diabetic mothers, so researchers are trying to identify other factors that contribute to the development of this complex disorder. Some researchers believe that a disruption of fetal development around day 28 of pregnancy causes caudal regression syndrome. The developmental problem is thought to affect the middle layer of embryonic tissue known as the mesoderm. Disruption of normal mesoderm development impairs normal formation of parts of the skeleton, gastrointestinal system, and genitourinary system. Other researchers think that caudal regression syndrome results from the presence of an abnormal artery in the abdomen, which diverts blood flow away from the lower areas of the developing fetus. Decreased blood flow to these areas is thought to interfere with their development and result in the signs and symptoms of caudal regression syndrome. Some scientists believe that the abnormal development of the mesoderm causes the reduction of blood flow, while other scientists believe that the reduction in blood flow causes the abnormal mesoderm development. Many scientists think that the cause of caudal regression syndrome is a combination of abnormal mesoderm development and decreased blood flow to the caudal areas of the fetus. |
treatment | What are the treatments for CHARGE syndrome ? | These resources address the diagnosis or management of CHARGE syndrome: - Gene Review: Gene Review: CHARGE Syndrome - Genetic Testing Registry: CHARGE association - MedlinePlus Encyclopedia: Choanal atresia - MedlinePlus Encyclopedia: Coloboma - MedlinePlus Encyclopedia: Facial Paralysis 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 |
susceptibility | Who is at risk for Prolactinoma? ? | Women whose ovaries produce inadequate estrogen are at increased risk for osteoporosis. Hyperprolactinemia can reduce estrogen production. Although estrogen production may be restored after treatment for hyperprolactinemia, even a year or 2 without estrogen can compromise bone strength. Women should protect themselves from osteoporosis by increasing exercise and calcium intake through diet or supplements and by not smoking. Women treated for hyperprolactinemia may want to have periodic bone density measurements and discuss estrogen replacement therapy or other bone-strengthening medications with their doctor. |
symptoms | What are the symptoms of Spastic paraplegia 14 ? | What are the signs and symptoms of Spastic paraplegia 14? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 14. 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) Adult onset - Autosomal recessive inheritance - Babinski sign - Hyperreflexia - Intellectual disability, mild - Lower limb muscle weakness - Lower limb spasticity - Motor axonal neuropathy - Pes cavus - Progressive - Spastic gait - Spastic paraplegia - 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) Pectus carinatum ? | Pectus carinatum refers to a chest wall abnormality in which the breastbone is pushed outward. It generally presents during childhood and worsens through adolescence. If the condition occurs in isolation, it is often not associated with any additional signs or symptoms. Rarely, affected people report shortness of breath during exercise, frequent respiratory infections, and/or asthma. The underlying cause of isolated pectus carinatum is unknown. Pectus carinatum can also be associated with a variety of genetic disorders and syndromes, including Marfan syndrome, Noonan syndrome, Morquio syndrome, homocystinuria, osteogenesis imperfecta, Coffin-Lowery syndrome, cardiofaciocutaneous syndrome, and certain chromosome abnormalities. In these cases, the condition has an underlying genetic cause and is associated with additional features that are characteristic of the genetic disease. Pectus carinatum is primarily a cosmetic concern and treatment, therefore, depends on the severity of the condition and the interests of the affected person and their family. In those who choose to pursue treatment, bracing and/or surgery may be an option. |
frequency | How many people are affected by Klippel-Trenaunay syndrome ? | Klippel-Trenaunay syndrome is estimated to affect at least 1 in 100,000 people worldwide. |
outlook | What is the outlook for Headache ? | Not all headaches require medical attention. But some types of headache are signals of more serious disorders and call for prompt medical care. These include: sudden, severe headache or sudden headache associated with a stiff neck; headaches associated with fever, convulsions, or accompanied by confusion or loss of consciousness; headaches following a blow to the head, or associated with pain in the eye or ear; persistent headache in a person who was previously headache free; and recurring headache in children. Migraine headaches may last a day or more and can strike as often as several times a week or as rarely as once every few years. |
treatment | What are the treatments for Hidradenocarcinoma ? | How might hidradenocarcinoma be treated? Because hidradenocarcinoma is quite rare, there are no established guidelines for treatment. Treatment is determined by the size and location of each particular cancer and the extent to which cancer cells may have spread to nearby lymph nodes or tissues. Surgery is often the first step and aims to remove as much of the cancer as possible. Both a traditional surgical technique, known as wide local excision, and the newer Mohs micrographic surgery have been used to remove hidradenocarcinomas. Radiation therapy, performed by a doctor known as radiation oncologist, has been used after surgery in patients with hidradenocarcinoma to destroy any cancer cells that may remain at the original location of the tumor or in the lymph nodes. Chemotherapy, performed by a doctor known as a medical oncologist, has not yet been proven as effective treatment for hidradenocarcinomas. |
information | What is (are) small fiber neuropathy ? | Small fiber neuropathy is a condition characterized by severe pain attacks that typically begin in the feet or hands. As a person ages, the pain attacks can affect other regions. Some people initially experience a more generalized, whole-body pain. The attacks usually consist of pain described as stabbing or burning, or abnormal skin sensations such as tingling or itchiness. In some individuals, the pain is more severe during times of rest or at night. The signs and symptoms of small fiber neuropathy usually begin in adolescence to mid-adulthood. Individuals with small fiber neuropathy cannot feel pain that is concentrated in a very small area, such as the prick of a pin. However, they have an increased sensitivity to pain in general (hyperalgesia) and experience pain from stimulation that typically does not cause pain (hypoesthesia). People affected with this condition may also have a reduced ability to differentiate between hot and cold. However, in some individuals, the pain attacks are provoked by cold or warm triggers. Some affected individuals have urinary or bowel problems, episodes of rapid heartbeat (palpitations), dry eyes or mouth, or abnormal sweating. They can also experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. Small fiber neuropathy is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain. |
frequency | How many people are affected by Laron syndrome ? | Laron syndrome is a rare disorder. About 350 people have been diagnosed with the condition worldwide. The largest single group of affected individuals (about 100 people) lives in an area of southern Ecuador. |
information | What is (are) Plasma Cell Neoplasms (Including Multiple Myeloma) ? | Key Points
- Plasma cell neoplasms are diseases in which the body makes too many plasma cells. - Plasma cell neoplasms can be benign (not cancer) or malignant (cancer). - There are several types of plasma cell neoplasms. - Monoclonal gammopathy of undetermined significance (MGUS) - Plasmacytoma - Multiple myeloma - Multiple myeloma and other plasma cell neoplasms may cause a condition called amyloidosis. - Age can affect the risk of plasma cell neoplasms. - Tests that examine the blood, bone marrow, and urine are used to detect (find) and diagnose multiple myeloma and other plasma cell neoplasms. - Certain factors affect prognosis (chance of recovery) and treatment options.
Plasma cell neoplasms are diseases in which the body makes too many plasma cells.
Plasma cells develop from B lymphocytes (B cells), a type of white blood cell that is made in the bone marrow. Normally, when bacteria or viruses enter the body, some of the B cells will change into plasma cells. The plasma cells make antibodies to fight bacteria and viruses, to stop infection and disease. Plasma cell neoplasms are diseases in which abnormal plasma cells or myeloma cells form tumors in the bones or soft tissues of the body. The plasma cells also make an antibody protein, called M protein, that is not needed by the body and does not help fight infection. These antibody proteins build up in the bone marrow and can cause the blood to thicken or can damage the kidneys.
Plasma cell neoplasms can be benign (not cancer) or malignant (cancer).
Monoclonal gammopathy of undetermined significance (MGUS) is not cancer but can become cancer. The following types of plasma cell neoplasms are cancer: - Lymphoplasmacytic lymphoma. (See Adult Non-Hodgkin Lymphoma Treatment for more information.) - Plasmacytoma. - Multiple myeloma.
There are several types of plasma cell neoplasms.
Plasma cell neoplasms include the following: Monoclonal gammopathy of undetermined significance (MGUS) In this type of plasma cell neoplasm, less than 10% of the bone marrow is made up of abnormal plasma cells and there is no cancer. The abnormal plasma cells make M protein, which is sometimes found during a routine blood or urine test. In most patients, the amount of M protein stays the same and there are no signs, symptoms, or health problems. In some patients, MGUS may later become a more serious condition, such as amyloidosis, or cause problems with the kidneys, heart, or nerves. MGUS can also become cancer, such as multiple myeloma, lymphoplasmacytic lymphoma, or chronic lymphocytic leukemia. Plasmacytoma In this type of plasma cell neoplasm, the abnormal plasma cells (myeloma cells) are in one place and form one tumor, called a plasmacytoma. Sometimes plasmacytoma can be cured. There are two types of plasmacytoma. - In isolated plasmacytoma of bone, one plasma cell tumor is found in the bone, less than 10% of the bone marrow is made up of plasma cells, and there are no other signs of cancer. Plasmacytoma of the bone often becomes multiple myeloma. - In extramedullary plasmacytoma, one plasma cell tumor is found in soft tissue but not in the bone or the bone marrow. Extramedullary plasmacytomas commonly form in tissues of the throat, tonsil, and paranasal sinuses. Signs and symptoms depend on where the tumor is. - In bone, the plasmacytoma may cause pain or broken bones. - In soft tissue, the tumor may press on nearby areas and cause pain or other problems. For example, a plasmacytoma in the throat can make it hard to swallow. Multiple myeloma In multiple myeloma, abnormal plasma cells (myeloma cells) build up in the bone marrow and form tumors in many bones of the body. These tumors may keep the bone marrow from making enough healthy blood cells. Normally, the bone marrow makes stem cells (immature cells) that become three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - White blood cells that fight infection and disease. - Platelets that form blood clots to help prevent bleeding. As the number of myeloma cells increases, fewer red blood cells, white blood cells, and platelets are made. The myeloma cells also damage and weaken the bone. Sometimes multiple myeloma does not cause any signs or symptoms. This is called smoldering multiple myeloma. It may be found when a blood or urine test is done for another condition. Signs and symptoms may be caused by multiple myeloma or other conditions. Check with your doctor if you have any of the following: - Bone pain, especially in the back or ribs. - Bones that break easily. - Fever for no known reason or frequent infections. - Easy bruising or bleeding. - Trouble breathing. - Weakness of the arms or legs. - Feeling very tired. A tumor can damage the bone and cause hypercalcemia (too much calcium in the blood). This can affect many organs in the body, including the kidneys, nerves, heart, muscles, and digestive tract, and cause serious health problems. Hypercalcemia may cause the following signs and symptoms: - Loss of appetite. - Nausea or vomiting. - Feeling thirsty. - Frequent urination. - Constipation. - Feeling very tired. - Muscle weakness. - Restlessness. - Confusion or trouble thinking.
Multiple myeloma and other plasma cell neoplasms may cause a condition called amyloidosis.
In rare cases, multiple myeloma can cause peripheral nerves (nerves that are not in the brain or spinal cord) and organs to fail. This may be caused by a condition called amyloidosis. Antibody proteins build up and stick together in peripheral nerves and organs, such as the kidney and heart. This can cause the nerves and organs to become stiff and unable to work the way they should. Amyloidosis may cause the following signs and symptoms: - Feeling very tired. - Purple spots on the skin. - Enlarged tongue. - Diarrhea. - Swelling caused by fluid in your body's tissues. - Tingling or numbness in your legs and feet. |
information | What is (are) sitosterolemia ? | Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues. These lipids are called plant sterols (or phytosterols). Sitosterol is one of several plant sterols that accumulate in this disorder, with a blood level 30 to 100 times greater than normal. Cholesterol, a similar fatty substance found in animal products, is mildly to moderately elevated in many people with sitosterolemia. Cholesterol levels are particularly high in some affected children. Plant sterols are not produced by the body; they are taken in as components of foods. Signs and symptoms of sitosterolemia begin to appear early in life after foods containing plant sterols are introduced into the diet. An accumulation of fatty deposits on the artery walls (atherosclerosis) may occur by adolescence or early adulthood in people with sitosterolemia. The deposits narrow the arteries and can eventually block blood flow, increasing the chance of a heart attack, stroke, or sudden death. People with sitosterolemia typically develop small yellowish growths called xanthomas beginning in childhood. The xanthomas consist of accumulated lipids and may be located anywhere on or just under the skin, typically on the heels, knees, elbows, and buttocks. They may also occur in the bands that connect muscles to bones (tendons), including tendons of the hand and the tendon that connects the heel of the foot to the calf muscles (the Achilles tendon). Large xanthomas can cause pain, difficulty with movement, and cosmetic problems. Joint stiffness and pain resulting from plant sterol deposits may also occur in individuals with sitosterolemia. Less often, affected individuals have blood abnormalities. Occasionally the blood abnormalities are the only signs of the disorder. The red blood cells may be broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). This type of anemia is called hemolytic anemia. Affected individuals sometimes have abnormally shaped red blood cells called stomatocytes. In addition, the blood cells involved in clotting, called platelets or thrombocytes, may be abnormally large (macrothrombocytopenia). |
inheritance | Is Spinocerebellar ataxia 11 inherited ? | How is spinocerebellar ataxia type 11 inherited? SCA11 is inherited in an autosomal dominant manner. The rate of de novo mutations is not known. Each child of an individual with SCA11 has a 50% chance of inheriting the mutation. Prenatal diagnosis for at-risk pregnancies is possible if the diagnosis has been confirmed by molecular genetic testing in a parent. Each child of an individual with SCA11 has a 50% chance of inheriting the mutation. Genetic testing of adults who do not have any symptoms but are at-risk of having inherited the mutation is possible. However, testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in individuals who do not have any symptom. The affected family member should be tested first to confirm the molecular diagnosis in the family. The best person who can answer questions and address any concerns about inheritance questions is a genetic professional. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral. The following online resources can also help you find a genetics professional in your community: GeneTests offers a searchable directory of U.S. and international genetics and prenatal diagnosis clinics. https://www.genetests.org/clinics The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services. http://nsgc.org/p/cm/ld/fid=164 The American College of Medical Genetics has a searchable database of US genetics clinics. https://www.acmg.net/ACMG/Find_Genetic_Services/ACMG/ISGweb/FindaGeneticService.aspx?hkey=720856ab-a827-42fb-a788-b618b15079f9 The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments. http://www.kumc.edu/GEC/prof/genecntr.html The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care. http://www.ashg.org/pages/member_search.shtml The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Please see a list of laboratories offering the genetic test for spinocerebellar ataxia type 11. For detailed information on testing, inheritance and genetic counseling and a comprehensive review of spinocerebellar ataxia type 11 you can visit GeneReviews. GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. http://www.ncbi.nlm.nih.gov/books/NBK1757/ |
inheritance | Is spondyloepiphyseal dysplasia congenita 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) Cataract ? | The lens is a clear part of the eye that helps to focus light, or an image, on the retina. The retina is the light-sensitive tissue at the back of the eye. In a normal eye, light passes through the transparent lens to the retina. Once it reaches the retina, light is changed into nerve signals that are sent to the brain. The lens must be clear for the retina to receive a sharp image. If the lens is cloudy from a cataract, the image you see will be blurred. |
treatment | What are the treatments for ethylmalonic encephalopathy ? | These resources address the diagnosis or management of ethylmalonic encephalopathy: - Baby's First Test - Genetic Testing Registry: Ethylmalonic encephalopathy - MedlinePlus Encyclopedia: Skin discoloration - bluish 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 Treatment Methods for Kidney Failure: Hemodialysis ? | Your kidneys do much more than remove wastes and extra fluid. They also make hormones and balance chemicals in your system. When your kidneys stop working, you may have problems with anemia and conditions that affect your bones, nerves, and skin. Some of the more common conditions caused by kidney failure are extreme tiredness, bone problems, joint problems, itching, and "restless legs." Restless legs will keep you awake as you feel them twitching and jumping.
Anemia and Erythropoietin (EPO)
Anemia is a condition in which the volume of red blood cells is low. Red blood cells carry oxygen to cells throughout the body. Without oxygen, cells can't use the energy from food, so someone with anemia may tire easily and look pale. Anemia can also contribute to heart problems.
Anemia is common in people with kidney disease because the kidneys produce the hormone erythropoietin, or EPO, which stimulates the bone marrow to produce red blood cells. Diseased kidneys often don't make enough EPO, and so the bone marrow makes fewer red blood cells. EPO is available commercially and is commonly given to patients on dialysis.
For more information about the causes of and treatments for anemia in kidney failure, see the NIDDK fact sheet Anemia in Chronic Kidney Disease.
Renal Osteodystrophy
The term "renal" describes things related to the kidneys. Renal osteodystrophy, or bone disease of kidney failure, affects 90 percent of dialysis patients. It causes bones to become thin and weak or formed incorrectly and affects both children and adults. Symptoms can be seen in growing children with kidney disease even before they start dialysis. Older patients and women who have gone through menopause are at greater risk for this disease.
For more information about the causes of this bone disease and its treatment in dialysis patients, see the NIDDK fact sheet Chronic Kidney Disease-Mineral and Bone Disorder.
Itching (Pruritus)
Many people treated with hemodialysis complain of itchy skin, which is often worse during or just after treatment. Itching is common even in people who don't have kidney disease; in kidney failure, however, itching can be made worse by wastes in the bloodstream that current dialyzer membranes can't remove from the blood.
The problem can also be related to high levels of parathyroid hormone (PTH). Some people have found dramatic relief after having their parathyroid glands removed. The four parathyroid glands sit on the outer surface of the thyroid gland, which is located on the windpipe in the base of your neck, just above the collarbone. The parathyroid glands help control the levels of calcium and phosphorus in the blood.
But a cure for itching that works for everyone has not been found. Phosphate binders seem to help some people; these medications act like sponges to soak up, or bind, phosphorus while it is in the stomach. Others find relief after exposure to ultraviolet light. Still others improve with EPO shots. A few antihistamines (Benadryl, Atarax, Vistaril) have been found to help; also, capsaicin cream applied to the skin may relieve itching by deadening nerve impulses. In any case, taking care of dry skin is important. Applying creams with lanolin or camphor may help.
Sleep Disorders
Patients on dialysis often have insomnia, and some people have a specific problem called the sleep apnea syndrome, which is often signaled by snoring and breaks in snoring. Episodes of apnea are actually breaks in breathing during sleep. Over time, these sleep disturbances can lead to "day-night reversal" (insomnia at night, sleepiness during the day), headache, depression, and decreased alertness. The apnea may be related to the effects of advanced kidney failure on the control of breathing. Treatments that work with people who have sleep apnea, whether they have kidney failure or not, include losing weight, changing sleeping position, and wearing a mask that gently pumps air continuously into the nose (nasal continuous positive airway pressure, or CPAP).
Many people on dialysis have trouble sleeping at night because of aching, uncomfortable, jittery, or "restless" legs. You may feel a strong impulse to kick or thrash your legs. Kicking may occur during sleep and disturb a bed partner throughout the night. The causes of restless legs may include nerve damage or chemical imbalances.
Moderate exercise during the day may help, but exercising a few hours before bedtime can make it worse. People with restless leg syndrome should reduce or avoid caffeine, alcohol, and tobacco; some people also find relief with massages or warm baths. A class of drugs called benzodiazepines, often used to treat insomnia or anxiety, may help as well. These prescription drugs include Klonopin, Librium, Valium, and Halcion. A newer and sometimes more effective therapy is levodopa (Sinemet), a drug used to treat Parkinson's disease.
Sleep disorders may seem unimportant, but they can impair your quality of life. Don't hesitate to raise these problems with your nurse, doctor, or social worker.
Amyloidosis
Dialysis-related amyloidosis (DRA) is common in people who have been on dialysis for more than 5 years. DRA develops when proteins in the blood deposit on joints and tendons, causing pain, stiffness, and fluid in the joints, as is the case with arthritis. Working kidneys filter out these proteins, but dialysis filters are not as effective. For more information, see the NIDDK fact sheet Amyloidosis and Kidney Disease. |
information | What is (are) ALG6-congenital disorder of glycosylation ? | ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic) is an inherited condition that affects many parts of the body. The signs and symptoms of ALG6-CDG vary widely among people with the condition. Individuals with ALG6-CDG typically develop signs and symptoms of the condition during infancy. They may have difficulty gaining weight and growing at the expected rate (failure to thrive). Affected infants often have weak muscle tone (hypotonia) and developmental delay. People with ALG6-CDG may have seizures, problems with coordination and balance (ataxia), or stroke-like episodes that involve an extreme lack of energy (lethargy) and temporary paralysis. They may also develop blood clotting disorders. Some individuals with ALG6-CDG have eye abnormalities including eyes that do not look in the same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes vision loss. Females with ALG6-CDG have hypergonadotropic hypogonadism, which affects the production of hormones that direct sexual development. As a result, most females with ALG6-CDG do not go through puberty. |
susceptibility | Who is at risk for Testicular Cancer? ? | A condition called cryptorchidism (an undescended testicle) is a risk factor for testicular cancer. Anything that increases the chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk. Risk factors for testicular cancer include the following: - Having cryptorchidism (an undescended testicle). - Having a testicle that is not normal, such as a small testicle that does not work the way it should. - Having testicular carcinoma in situ. - Being white. - Having a personal or family history of testicular cancer. - Having Klinefelter syndrome. Men who have cryptorchidism, a testicle that is not normal, or testicular carcinoma in situ have an increased risk of testicular cancer in one or both testicles, and need to be followed closely. |
inheritance | Is Thalassemia inherited ? | How is thalassemia inherited? In general, thalassemia is inherited in an autosomal recessive manner; however, the inheritance can be quite complex as multiple genes can influence the production of hemoglobin. Most people affected by beta thalassemia have mutations in both copies of the HBB gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition; although some carriers of beta thalassemia develop mild anemia. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. The inheritance of alpha thalassemia is complicated by the fact that mutations in two different genes (HBA1 and HBA2) are associated with the condition. People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell. For each gene, one copy is inherited from the mother and one is inherited from the father. If each parent is missing at least one gene copy, their children are at risk for having alpha thalassemia. However, the exact risk and the severity of each child's condition depends on how many gene copies are lost (deleted) and which combination of the HBA1 and HBA2 genes are affected. |
inheritance | Is Punctate palmoplantar keratoderma type I inherited ? | How is punctate palmoplantar keratoderma type I inherited? Punctate palmoplantar keratoderma type I is usually inherited in an autosomal dominant manner. Autosomal dominant inheritance is when only one mutated copy of a disease-causing gene in each cell is sufficient for a person to be affected. An autosomal dominant condition may occur for the first time in an affected individual due to a new mutation, or may be inherited from an affected parent. When a person with an autosomal dominant disorder has a child, there is a 50% chance that his/her child will inherit the condition. Keratosis palmoplantaris papulosa shows age dependent penetrance and possibly variable penetrance as well. Age dependant penetrance means that the older the person is, the more likely they are to develop symptoms if they have inherited the disease causing gene mutation. Variable penetrance means that not everyone who inherits the gene mutation that causes keratosis palmoplantaris papulosa develops the signs and symptoms of the condition. However this person would still be at risk of passing the disease-causing mutation to their offspring. |
frequency | How many people are affected by Ohdo syndrome, Maat-Kievit-Brunner type ? | The Maat-Kievit-Brunner type of Ohdo syndrome is a very rare condition, with only a few affected individuals reported in the medical literature. |
symptoms | What are the symptoms of Ellis Yale Winter syndrome ? | What are the signs and symptoms of Ellis Yale Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ellis Yale Winter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal lung lobation 90% Cognitive impairment 90% Intrauterine growth retardation 90% Microcephaly 90% Ventricular septal defect 90% Abnormality of periauricular region 50% Abnormality of the aorta 50% Abnormality of the nipple 50% Blepharophimosis 50% Cleft palate 50% Limitation of joint mobility 50% Muscular hypotonia 50% Renal hypoplasia/aplasia 50% Short distal phalanx of finger 50% Short neck 50% Single transverse palmar crease 50% Talipes 50% Underdeveloped nasal alae 50% Webbed neck 50% Abnormality of the respiratory system - Autosomal recessive inheritance - Hydranencephaly - Preauricular pit - Truncus arteriosus - Unilateral renal agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
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