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What are the symptoms of Dementia familial British ? | What are the signs and symptoms of Dementia familial British? The Human Phenotype Ontology provides the following list of signs and symptoms for Dementia familial British. 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 M... | [
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What are the symptoms of Bardet-Biedl syndrome 10 ? | What are the signs and symptoms of Bardet-Biedl syndrome 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 10. 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 Med... | [
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How many people are affected by ataxia with vitamin E deficiency ? | Ataxia with vitamin E deficiency is a rare condition; however, its prevalence is unknown. | [
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what research (or clinical trials) is being done for Skin Cancer ? | The National Cancer Institute has developed a comprehensive online cancer database called the Physician Data Query (PDQ) to present evidence from the most recent research on melanoma and other skin cancers. Click here to see the PDQ. A window will open. Click the "x" in the upper right hand corner of the "PDQ" window t... | [
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What are the treatments for Balance Problems ? | In BPPV (benign paroxysmal positional vertigo), small calcium particles in the inner ear become displaced, causing dizziness. A doctor, otolaryngologist, audiologist, or physical therapist can treat BPPV by carefully moving the head and torso to move the displaced calcium particles back to their original position Learn... | [
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What is (are) Ulcerative Colitis ? | The large intestine is part of the GI tract, a series of hollow organs joined in a long, twisting tube from the mouth to the anusan opening through which stool leaves the body. The last part of the GI tract, called the lower GI tract, consists of the large intestinewhich includes the appendix, cecum, colon, and rectuma... | [
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What are the symptoms of Infantile myofibromatosis ? | What are the signs and symptoms of Infantile myofibromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile myofibromatosis. 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 M... | [
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How to diagnose Thrombotic Thrombocytopenic Purpura ? | Your doctor will diagnosis thrombotic thrombocytopenic purpura (TTP) based on your medical history, a physical exam, and test results.
If TTP is suspected or diagnosed, a hematologist will be involved in your care. A hematologist is a doctor who specializes in diagnosing and treating blood disorders.
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What are the symptoms of Miller syndrome ? | What are the signs and symptoms of Miller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miller 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... | [
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What are the genetic changes related to popliteal pterygium syndrome ? | Mutations in the IRF6 gene cause popliteal pterygium syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular ... | [
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What are the treatments for Alpers' Disease ? | There is no cure for Alpers' disease and no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures, but at times the seizures do not respond well to therapy, even at high doses. Therefore, the benefit of seizure control should be weights against what coul... | [
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What is (are) Malnutrition ? | Food provides the energy and nutrients you need to be healthy. If you don't get enough nutrients -- including proteins, carbohydrates, fats, vitamins, and minerals - you may suffer from malnutrition. Causes of malnutrition include: - Lack of specific nutrients in your diet. Even the lack of one vitamin can lea... | [
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Is Wildervanck syndrome inherited ? | How is Wildervanck syndrome inherited? Wildervanck syndrome does not have a clear pattern of inheritance. In most cases, only one person in a family is affected. These cases are called isolated or sporadic because there is no family history of Wildervanck syndrome. Because this syndrome occurs mostly in females, it ... | [
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What are the symptoms of Osteopenia and sparse hair ? | What are the signs and symptoms of Osteopenia and sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopenia and sparse hair. 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... | [
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Is thiopurine S-methyltransferase deficiency inherited ? | The activity of the TPMT enzyme is inherited in a pattern described as autosomal codominant. Codominance means that two different versions of the gene are active (expressed), and both versions influence the genetic trait. The TPMT gene can be classified as either low-activity or high-activity. When the gene is altered... | [
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Is late-infantile neuronal ceroid lipofuscinosis 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. | [
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What causes Intrahepatic cholestasis of pregnancy ? | What causes intrahepatic cholestasis of pregnancy? Largely, the cause of intrahepatic cholestasis of pregnancy (ICP) is unknown. ICP is present in approximately 1% of pregnancies in the United States. It is thought to be caused by a mixture of genetic, hormonal, and environmental factors. Risk factors include: A person... | [
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What are the treatments for Essential Tremor ? | There is no definitive cure for essential tremor. Symptomatic drug therapy may include propranolol or other beta blockers and primidone, an anticonvulsant drug. Eliminating tremor "triggers" such as caffeine and other stimulants from the diet is often recommended. Physical and occupational therapy may help to reduce tr... | [
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What is (are) Laryngeal Cancer ? | Key Points
- Laryngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the larynx. - Use of tobacco products and drinking too much alcohol can affect the risk of laryngeal cancer. - Signs and symptoms of laryngeal cancer include a sore throat and ear pain. - Te... | [
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What to do for What I need to know about Kidney Failure and How Its Treated ? | Eating healthy foods can help you keep up your energy and strength. All dialysis and transplant centers have a dietitian. The dietitian helps people with kidney failure learn about healthy food choices. You should talk with your centers dietitian to make a meal plan.
The best diet for you will depend o... | [
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What are the symptoms of Lipedema ? | What are the signs and symptoms of lipedema? Signs and symptoms of lipedema include enlarged legs extending from the buttocks to the ankles. This enlargement can be painful. The size of the legs are typically out of proportion to the upper body (despite the individuals BMI). The feet are much less involved or spared en... | [
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What are the treatments for Ataxia Telangiectasia ? | There is no cure for A-T and, currently, no way to slow the progression of the disease. Treatment is symptomatic and supportive. Physical and occupational therapy help to maintain flexibility. Speech therapy is important, teaching children to control air flow to the vocal cords. Gamma-globulin injections may be useful ... | [
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What are the treatments for Paresthesia ? | The appropriate treatment for paresthesia depends on accurate diagnosis of the underlying cause. | [
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What are the symptoms of Multiple pterygium syndrome lethal type ? | What are the signs and symptoms of Multiple pterygium syndrome lethal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome lethal type. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | [
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What is the outlook for Spinal Cord Injury ? | Spinal cord injuries are classified as either complete or incomplete. An incomplete injury means that the ability of the spinal cord to convey messages to or from the brain is not completely lost. People with incomplete injuries retain some motor or sensory function below the injury. A complete injury is indicated by a... | [
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Is aniridia inherited ? | Aniridia 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 two-thirds of cases, an affected person inherits the mutation from one affected parent. The remaining one-third of cases result from new mutations in the g... | [
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Is Dopa-responsive dystonia inherited ? | How is dopa-responsive dystonia inherited? Depending on the genetic cause of dopa-responsive dystonia (DRD), it may be inherited in an autosomal dominant or autosomal recessive manner. When DRD is caused by mutations in the GCH1 gene, it is inherited in an autosomal dominant manner. This means that having a mutation in... | [
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What are the symptoms of Prostate Cancer ? | - a need to urinate frequently, especially at night - difficulty starting urination or holding back urine - inability to urinate - weak or interrupted flow of urine a need to urinate frequently, especially at night difficulty starting urination or holding back urine inability to urinate weak or interrupted flow of u... | [
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How many people are affected by 3-beta-hydroxysteroid dehydrogenase deficiency ? | The exact prevalence of 3-HSD deficiency is unknown. At least 60 affected individuals have been reported. | [
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What are the treatments for Glucose transporter type 1 deficiency syndrome ? | How might glucose transporter type 1 deficiency syndrome be treated? There is currently no cure for glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome); however, a special diet (called a ketogenic diet) may help control symptoms in some affected people. The GLUT1 Deficiency Foundation offers an i... | [
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What is (are) Quitting Smoking for Older Adults ? | Many former smokers who are 50 and older say that their main reason for quitting was for their health or due to their doctors advice. Another common reason smokers quit is to be in control of their lives and to be free from cigarettes. A lot of former smokers also said that pleasing or helping a loved one was a big par... | [
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What are the symptoms of Paine syndrome ? | What are the signs and symptoms of Paine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Paine 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 l... | [
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Is Sjgren syndrome inherited ? | A predisposition to develop autoimmune disorders can be passed through generations in families. Relatives of people with Sjgren syndrome are at an increased risk of developing autoimmune diseases, although they are not necessarily more likely to develop Sjgren syndrome in particular. The inheritance pattern of this pre... | [
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What is (are) cartilage-hair hypoplasia ? | Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. People with cartilage-hair hypoplasia have unusually shor... | [
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What are the treatments for Diabetic Retinopathy ? | Research found that that prompt treatment of macular edema with anti-VEGF drugs, with or without laser treatment, resulted in better vision than laser treatment alone or steroid injections. When injected into the eye, these drugs reduce fluid leakage and interfere with the growth of new blood vessels in the retina. In ... | [
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What are the treatments for Northern epilepsy ? | These resources address the diagnosis or management of Northern epilepsy: - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant These resources from MedlinePlus offer information about the diagnosis and management of vari... | [
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How to diagnose Parasites - Trichinellosis (also known as Trichinosis) ? | A diagnosis of trichinellosis is made in patients whose signs and symptoms are compatible with trichinellosis, have a positive laboratory test for Trichinella, and who can recall eating raw or undercooked pork or wild game meat.
Laboratory diagnosis of Trichinella infection is most often made by a Trichinella anti... | [
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What is (are) Adult Soft Tissue Sarcoma ? | Key Points
- Adult soft tissue sarcoma is a disease in which malignant (cancer) cells form in the soft tissues of the body. - Having certain inherited disorders can increase the risk of adult soft tissue sarcoma. - A sign of adult soft tissue sarcoma is a lump or swelling in soft tissue of the... | [
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What are the symptoms of Heart Attack ? | Symptoms Can Vary Not all heart attacks begin with the sudden, crushing chest pain that often is shown on TV or in the movies. The warning signs and symptoms of a heart attack aren't the same for everyone. Many heart attacks start slowly as mild pain or discomfort. Some people don't have symptoms at all. Heart attacks ... | [
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How many people are affected by Donohue syndrome ? | Donohue syndrome is estimated to affect less than 1 per million people worldwide. Several dozen cases have been reported in the medical literature. | [
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Is primary spontaneous pneumothorax inherited ? | When this condition is caused by mutations in the FLCN gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, a person inherits the FLCN gene mutation from an affected parent. People who have an FLCN gene mutation... | [
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What is (are) thanatophoric dysplasia ? | Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. R... | [
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What are the treatments for Treacher Collins syndrome ? | These resources address the diagnosis or management of Treacher Collins syndrome: - Gene Review: Gene Review: Treacher Collins Syndrome - Genetic Testing Registry: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive - Genetic Testing Registry: Treacher Collins syndrome - Genetic Testing Registry:... | [
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What is (are) spinocerebellar ataxia type 1 ? | Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and weakne... | [
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What is (are) Cerulean cataract ? | Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood. They are usually bilateral and progressive. Infants can be asymptomatic, but may also be visually ... | [
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What is the outlook for Piriformis Syndrome ? | The prognosis for most individuals with piriformis syndrome is good. Once symptoms of the disorder are addressed, individuals can usually resume their normal activities. In some cases, exercise regimens may need to be modified in order to reduce the likelihood of recurrence or worsening. | [
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What are the symptoms of Myelodysplastic/ Myeloproliferative Neoplasm, Unclassifiable ? | Signs and symptoms of myelodysplastic/myeloproliferative neoplasm, unclassifiable, include fever, weight loss, and feeling very tired. These and other signs and symptoms may be caused by MDS/MPN-UC or by other conditions. Check with your doctor if you have any of the following: - Fever or frequent infections. ... | [
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What is (are) Bell's Palsy ? | Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the face. Symptoms appear suddenly and are at their worst about 48 hours after they start. They can range from mild to severe and include - Twitching - Weakness - Paralysis - Drooping eyelid or corner of mouth ... | [
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Is warfarin sensitivity inherited ? | The polymorphisms associated with this condition are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to result in warfarin sensitivity. However, different polymorphisms affect the activity of warfarin to varying degrees. Additionally, people who have more ... | [
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Do you have information about Caffeine | Summary : Caffeine is a bitter substance found in coffee, tea, soft drinks, chocolate, kola nuts, and certain medicines. It has many effects on the body's metabolism, including stimulating the central nervous system. This can make you more alert and give you a boost of energy. For most people, the amount of caffein... | [
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Is Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis 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. | [
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How to diagnose EEC syndrome ? | Is genetic testing available for EEC syndrome? It is estimated that greater than 90% of cases of EEC syndrome are caused by mutations in the TP63 gene. The remainder are suspected to be caused by different mutations in a region on chromosome 7. Genetic testing is available to detect both mutations in the TP63 gene and ... | [
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What are the genetic changes related to atopic dermatitis ? | The genetics of atopic dermatitis are not completely understood. Studies suggest that several genes can be involved in development of the condition. The strongest association is with the FLG gene, which is mutated in 20 to 30 percent of people with atopic dermatitis compared with 8 to 10 percent of the general populati... | [
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What are the symptoms of Congenital lipoid adrenal hyperplasia ? | What are the signs and symptoms of Congenital lipoid adrenal hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital lipoid adrenal hyperplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | [
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What are the symptoms of Tietze syndrome ? | What are the signs and symptoms of Tietze syndrome? The signs and symptoms of Tietze syndrome usually develop in young adulthood (before age 40). The most common symptom is mild to severe chest pain that may extend into the arms and/or shoulders. The onset of pain can be gradual or sudden and may worsen with coughing, ... | [
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What are the treatments for isolated Pierre Robin sequence ? | These resources address the diagnosis or management of isolated Pierre Robin sequence: - Boston Children's Hospital: Cleft Lip and Cleft Palate Treatment and Care - Genetic Testing Registry: Robin sequence - Seattle Children's Hospital: Robin Sequence Treatments These resources from MedlinePlus offer information a... | [
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What are the genetic changes related to autosomal recessive congenital stationary night blindness ? | Mutations in several genes can cause autosomal recessive congenital stationary night blindness. Each of these genes provide instructions for making proteins that are found in the retina. These proteins are involved in sending (transmitting) visual signals from cells called rods, which are specialized for vision in low ... | [
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What are the genetic changes related to fragile X syndrome ? | Mutations in the FMR1 gene cause fragile X syndrome. The FMR1 gene provides instructions for making a protein called FMRP. This protein helps regulate the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells. Synapses are critical for relayi... | [
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What causes Isobutyryl-CoA dehydrogenase deficiency ? | What causes isobutyryl-CoA dehydrogenase deficiency (IBD deficiency)? IBD deficiency is caused by mutations in the ACAD8 gene. The ACAD8 gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for processing valine, an... | [
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What are the treatments for pachyonychia congenita ? | These resources address the diagnosis or management of pachyonychia congenita: - Gene Review: Gene Review: Pachyonychia Congenita - Genetic Testing Registry: Pachyonychia congenita 4 - Genetic Testing Registry: Pachyonychia congenita syndrome - Genetic Testing Registry: Pachyonychia congenita type 2 - Genetic Test... | [
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How to diagnose High Blood Pressure and Kidney Disease ? | A health care provider diagnoses high blood pressure when multiple blood pressure testsoften repeated over several visits to a health care providers officeshow that a systolic blood pressure is consistently above 140 or a diastolic blood pressure is consistently above 90. Health care providers measure blood pressure wi... | [
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What is (are) blepharophimosis, ptosis, and epicanthus inversus syndrome ? | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye... | [
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What are the genetic changes related to 3-methylglutaconyl-CoA hydratase deficiency ? | Mutations in the AUH gene cause 3-methylglutaconyl-CoA hydratase deficiency. This gene provides instructions for producing 3-methylglutaconyl-CoA hydratase, an enzyme that is involved in breaking down a protein building block (amino acid) called leucine to provide energy for cells. This amino acid is broken down in cel... | [
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How many people are affected by familial dysautonomia ? | Familial dysautonomia occurs primarily in people of Ashkenazi (central or eastern European) Jewish descent. It affects about 1 in 3,700 individuals in Ashkenazi Jewish populations. Familial dysautonomia is extremely rare in the general population. | [
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Do you have information about Pacemakers and Implantable Defibrillators | Summary : An arrhythmia is any disorder of your heart rate or rhythm. It means that your heart beats too quickly, too slowly, or with an irregular pattern. Most arrhythmias result from problems in the electrical system of the heart. If your arrhythmia is serious, you may need a cardiac pacemaker or an implantable cardi... | [
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What are the symptoms of Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly ? | What are the signs and symptoms of Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly. If the information is available, the table below includes how often the symp... | [
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Is Harlequin ichthyosis inherited ? | How is harlequin ichthyosis inherited? Harlequin ichthyosis 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 an... | [
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What is (are) FG syndrome ? | FG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder. FG syndrome affects intelligence and behavior. Almost everyone with the condition has intellectual disability, which range... | [
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what research (or clinical trials) is being done for Hypotonia ? | The NINDS supports research on conditions that can result from neurological disorders, such as hypotonia. Much of this research is aimed at learning more about these conditions and finding ways to prevent and treat them. | [
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What are the symptoms of Colon Cancer ? | Signs of colon cancer include blood in the stool or a change in bowel habits. These and other signs and symptoms may be caused by colon cancer or by other conditions. Check with your doctor if you have any of the following: - A change in bowel habits. - Blood (either bright red or very dark) in the stool. ... | [
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How many people are affected by carnitine-acylcarnitine translocase deficiency ? | CACT deficiency is very rare; at least 30 cases have been reported. | [
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What is (are) DOLK-congenital disorder of glycosylation ? | DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals. Individual... | [
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What are the symptoms of Yellow nail syndrome ? | What are the signs and symptoms of Yellow nail syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yellow nail 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 Dic... | [
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What are the symptoms of Osteopetrosis autosomal recessive 7 ? | What are the signs and symptoms of Osteopetrosis autosomal recessive 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | [
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Who is at risk for Oxygen Therapy? ? | Oxygen therapy can cause complications and side effects. These problems might include a dry or bloody nose, skin irritation from the nasal cannula or face mask, fatigue (tiredness), and morning headaches.
If these problems persist, tell your doctor and home equipment provider. Depending on the problem,... | [
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What are the treatments for Neurosyphilis ? | Penicillin, an antibiotic, is used to treat syphilis. Individuals with neurosyphilis can be treated with penicillin given by vein, or by daily intramuscular injections for 10 14 days. If they are treated with daily penicillin injections, individuals must also take probenecid by mouth four times a day. Some medical pro... | [
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Who is at risk for Iron-Deficiency Anemia? ? | Infants and Young Children
Infants and young children need a lot of iron to grow and develop. The iron that full-term infants have stored in their bodies is used up in the first 4 to 6 months of life.
Premature and low-birth-weight babies (weighing less than 5.5 pounds) are at even gre... | [
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What is (are) IRAK-4 deficiency ? | IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. (Infection with pyogenic bacteria causes the production of pus.) The most common infectio... | [
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How many people are affected by microphthalmia ? | Microphthalmia occurs in approximately 1 in 10,000 individuals. | [
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How to diagnose Lujo Hemorrhagic Fever (LUHF) ? | During the acute febrile phase, Lujo virus was isolated from blood from days 2 to 13 after onset. Virus was also isolated from liver tissue obtained post-mortem. A subsequent complete genomic analysis of Lujo virus facilitated the development of specific molecular detection (RT-PCR) assays.
Serologic diagnosis of ... | [
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What is (are) Angelman syndrome ? | Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epile... | [
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What are the symptoms of Duodenal atresia ? | What are the signs and symptoms of Duodenal atresia? The Human Phenotype Ontology provides the following list of signs and symptoms for Duodenal atresia. 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 ... | [
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What are the treatments for congenital generalized lipodystrophy ? | These resources address the diagnosis or management of congenital generalized lipodystrophy: - Gene Review: Gene Review: Berardinelli-Seip Congenital Lipodystrophy - Genetic Testing Registry: Berardinelli-Seip congenital lipodystrophy - MedlinePlus Encyclopedia: Hypertrophic Cardiomypathy - University of Texas Sout... | [
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What are the genetic changes related to Roberts syndrome ? | Mutations in the ESCO2 gene cause Roberts syndrome. This gene provides instructions for making a protein that is important for proper chromosome separation during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, c... | [
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What are the symptoms of Insomnia ? | The main symptom of insomnia is trouble falling or staying asleep, which leads to lack of sleep. If you have insomnia, you may:
Lie awake for a long time before you fall asleep
Sleep for only short periods
Be awake for much of the night
Feel as if you ... | [
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What is (are) Small Intestine Cancer ? | Key Points
- Small intestine cancer is a rare disease in which malignant (cancer) cells form in the tissues of the small intestine. - There are five types of small intestine cancer. - Diet and health history can affect the risk of developing small intestine cancer. - Signs and symptoms of s... | [
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How many people are affected by Noonan syndrome ? | Noonan syndrome occurs in approximately 1 in 1,000 to 2,500 people. | [
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How many people are affected by Cole disease ? | Cole disease is a rare disease; its prevalence is unknown. Only a few affected families have been described in the medical literature. | [
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What is (are) Diarrhea ? | Diarrhea means that you have loose, watery stools more than three times in one day. You may also have cramps, bloating, nausea and an urgent need to have a bowel movement. Causes of diarrhea include bacteria, viruses or parasites, certain medicines, food intolerances and diseases that affect the stomach, small inte... | [
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What is (are) Metachondromatosis ? | Metachondromatosis (MC) is a rare bone disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. The first signs occur during the first decade of life. Osteochondromas most commonly occur in the hands and feet (predominantly in digits and toes), and enchondromas involve the i... | [
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How to diagnose Male Breast Cancer ? | Tests that examine the breasts are used to detect (find) and diagnose breast cancer in men.
The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything... | [
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What is (are) Kidney Cysts ? | A cyst is a fluid-filled sac. There are two types of kidney cysts. Polycystic kidney disease (PKD) runs in families. In PKD, the cysts take the place of the normal tissue. They enlarge the kidneys and make them work poorly, leading to kidney failure. When PKD causes kidneys to fail - which usually happens after man... | [
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How to diagnose Heart Attack ? | If You Have Symptoms, Call 9-1-1 Diagnosis and treatment of a heart attack can begin when emergency personnel arrive after you call 9-1-1. Do not put off calling 9-1-1 because you are not sure that you are having a heart attack. Call within 5 minutes of the start of symptoms. At the hospital emergency room, doctors wil... | [
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What are the stages of Pituitary Tumors ? | Key Points
- Once a pituitary tumor has been diagnosed, tests are done to find out if it has spread within the central nervous system (brain and spinal cord) or to other parts of the body. - Pituitary tumors are described in several ways.
Onc... | [
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What are the symptoms of Fatal familial insomnia ? | What are the signs and symptoms of Fatal familial insomnia? The first signs and symptoms of fatal familial insomnia (FFI) generally develop in midlife (40s to 50s) and may include insomnia that worsens over time and vivid dreams when sleep is achieved. As the disease progresses and disturbs the autonomic nervous system... | [
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What is (are) Temporomandibular ankylosis ? | Temporomandibular ankylosis is a condition that occurs when the temporomandibular joint (the joint that connects the jaw to the side of the head) becomes fused by bony or fibrous tissue. As a result, affected people may experience pain, speech impairment, and difficulty chewing and swallowing. It can interfere with nut... | [
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How many people are affected by Menkes syndrome ? | The incidence of Menkes syndrome and occipital horn syndrome is estimated to be 1 in 100,000 newborns. | [
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What are the treatments for Gastritis ? | Health care providers treat gastritis with medications to
- reduce the amount of acid in the stomach - treat the underlying cause
Reduce the Amount of Acid in the Stomach
The stomach lining of a person with gastritis may have less protection from acidic digestive juic... | [
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What are the symptoms of Osteopetrosis autosomal dominant type 2 ? | What are the signs and symptoms of Osteopetrosis autosomal dominant type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | [
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What are the treatments for Treatment Methods for Kidney Failure: Peritoneal Dialysis ? | Your health care team will perform several tests to tell if your dialysis exchanges are removing enough wastes. These tests are especially important during the first weeks of treatment to determine whether your schedule is adequate.
Peritoneal Equilibration Test
For a peritoneal equili... | [
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