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Benign essential blepharospasm (BEB) is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of dystonia, a movement disorder in which muscle contractions cause sustained eyelid closure, twitching or repetitive movements. BEB begins gradually with increased frequency of eye blinking often associated with eye irritation. Other symptoms may include increasing difficulty in keeping the eyes open, and light sensitivity. Generally, the spasms occur during the day, disappear in sleep, and reappear after waking. As the condition progresses, the spasms may intensify, forcing the eyelids to remain closed for long periods of time, and thereby causing substantial visual disturbance or functional blindness. It is important to note that the blindness is caused solely by the uncontrollable closing of the eyelids and not by a dysfunction of the eyes. BEB occurs in both men and women, although it is especially common in middle-aged and elderly women.
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The prevalence of dystonia 6 is unknown. Studies indicate that it likely accounts for between 1 and 3 percent of all cases of dystonia. For reasons that are unclear, the disorder appears to be slightly more prevalent in females than in males.
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This condition is very rare; only a few dozen affected individuals have been identified.
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Acute febrile neutrophilic dermatosis - also known as Sweet syndrome - is a skin condition marked by fever, inflammation of the joints (arthritis), and painful skin lesions that appear mainly on the face, neck, back and arms. Although middle-aged women are most likely to develop this condition, it may also affect men, older adults and even infants. The exact cause of acute febrile neutrophilic dermatosis often isn't known. In some people, it's triggered by an infection, illness or certain medications. This condition can also occur with some types of cancer and other serious health problems. Most often, it isn't serious and will clear on its own in a few months. Healing is much more rapid, however, with treatment.
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Congenital hepatic fibrosis is a rare disease of the liver that is present at birth. Symptoms include the following: a large liver, a large spleen, gastrointestinal bleeding caused by varices, increased pressure in the blood vessels that carry blood to the liver (portal hypertension), and scar tissue in the liver (fibrosis). Isolated congenital hepatic fibrosis is rare; it usually occurs as part of a syndrome that also affects the kidneys. There is no treatment to correct the fibrosis or the specific abnormalities in the blood vessels, but complications such as bleeding and infection can be treated.
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Cancer prevention clinical trials are used to study ways to prevent cancer.
Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements.
New ways to prevent prostate cancer are being studied in clinical trials.
Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for prostate cancer prevention trials that are accepting patients.
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An intestinal obstruction occurs when food or stool cannot move through the intestines. The obstruction can be complete or partial. There are many causes. The most common are adhesions, hernias, cancers, and certain medicines. Symptoms include - Severe abdominal pain or cramping - Vomiting - Bloating - Loud bowel sounds - Swelling of the abdomen - Inability to pass gas - Constipation A complete intestinal obstruction is a medical emergency. It often requires surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
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These resources address the diagnosis or management of cleidocranial dysplasia: - Gene Review: Gene Review: Cleidocranial Dysplasia - Genetic Testing Registry: Cleidocranial dysostosis - MedlinePlus Encyclopedia: Cleidocranial dysostosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
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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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Mutations in the KCNE1, KCNE2, KCNH2, KCNQ1, and SCN5A genes cause Romano-Ward syndrome. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions), such as potassium and sodium, into and out of cells. In cardiac muscle, ion channels play critical roles in maintaining the heart's normal rhythm. Mutations in any of these genes alter the structure or function of these channels, which changes the flow of ions between cells. A disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of Romano-Ward syndrome. Unlike most genes related to Romano-Ward syndrome, the ANK2 gene does not provide instructions for making an ion channel. The ANK2 protein, ankyrin-2, ensures that certain other proteins (particularly ion channels) are inserted into the cell membrane appropriately. A mutation in the ANK2 gene likely alters the flow of ions between cells in the heart, which disrupts the heart's normal rhythm. ANK2 mutations can cause a variety of heart problems, including the irregular heartbeat often found in Romano-Ward syndrome. It is unclear whether mutations in the ANK2 gene cause Romano-Ward syndrome or lead to another heart condition with some of the same signs and symptoms.
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In comparison with accidental traumatic brain injury in infants, shaken baby injuries have a much worse prognosis. Damage to the retina of the eye can cause blindness. The majority of infants who survive severe shaking will have some form of neurological or mental disability, such as cerebral palsy or cognitive impairment, which may not be fully apparent before 6 years of age. Children with shaken baby syndrome may require lifelong medical care.
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These resources address the diagnosis or management of cerebrotendinous xanthomatosis: - Gene Review: Gene Review: Cerebrotendinous Xanthomatosis - Genetic Testing Registry: Cholestanol storage disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
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The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to neurological diseases such as lipoid proteinosis 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 better ways to prevent, treat, and ultimately cure disorders, such as lipoid proteinosis.
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Transposition of the great arteries (TGA) is a type of congenital heart defect in which there is a reversal of the normal connections of the aorta and the pulmonary artery with the heart. The aorta and pulmonary artery are reversed, which causes oxygen-poor blood to be circulated to the body and oxygen-rich blood to be circulated between the lungs and the heart, rather than to the body. Symptoms are apparent at birth and include great difficulty breathing and severe cyanosis (a bluish discoloration of the skin). The exact cause of TGA in most cases is unknown. Surgery is done to correct the abnormality during the first few days of life.
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Some studies suggest that non-smokers who are exposed to environmental tobacco smoke, also called secondhand smoke, are at increased risk of lung cancer. Secondhand smoke is the smoke that non-smokers are exposed to when they share air space with someone who is smoking. Tobacco smoke contains more than 7,000 chemicals, including hundreds that are toxic and about 70 that can cause cancer. Since 1964, approximately 2,500,000 nonsmokers have died from health problems caused by exposure to secondhand smoke. Learn more about the effects of secondhand smoke. Learn more about the chemicals found in cigarettes.
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Idiopathic acute eosinophilic pneumonia (IAEP) is characterized by the rapid accumulation of eosinophils in the lungs. Eosinophils are a type of white blood cell and are part of the immune system. IAEP can occur at any age but most commonly affects otherwise healthy individuals between 20 and 40 years of age. Signs and symptoms may include fever, cough, fatigue, difficulty breathing (dyspnea), muscle pain, and chest pain. IAEP can progress rapidly to acute respiratory failure. The term idiopathic means the exact cause for the overproduction of eosinophils is not known. Possible triggers of acute eosinophilic pneumonia include cigarette smoking, occupational exposure to dust and smoke, and certain medications. Diagnosis of IAEP generally involves a bronchoscopy and bronchoalveolar lavage (BAL). Treatment with corticosteroids is effective in most cases. Because IAEP often progresses rapidly, respiratory failure can occur; in these cases, mechanical ventilation is required.
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The National Institute of Neurological Disorders and Stroke (NINDS) conducts research relating to headaches at its laboratories at the National Institutes of Health (NIH), and supports additional research through grants to major medical institutions across the country. NINDS also supports and conducts studies to improve the diagnosis of headaches and to find ways to prevent them.
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What are the signs and symptoms of Convulsions benign familial neonatal dominant form? The Human Phenotype Ontology provides the following list of signs and symptoms for Convulsions benign familial neonatal dominant form. 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 - Generalized tonic-clonic seizures - Hypertonia - Normal interictal EEG - 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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Hemophilia is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor trauma or in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. The major types of this disorder are hemophilia A and hemophilia B. Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood, but have few bleeding problems after puberty. Another form of the disorder, acquired hemophilia, is not caused by inherited gene mutations.
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These resources address the diagnosis or management of aromatase deficiency: - Genetic Testing Registry: Aromatase deficiency - MedlinePlus Encyclopedia: Ovarian Overproduction of Androgens These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
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The prevalence of nail-patella syndrome is estimated to be 1 in 50,000 individuals.
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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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Symptoms that accompany chronic diarrhea in children depend on the cause of the diarrhea. Symptoms can include
- cramping - abdominal pain - nausea or vomiting - fever - chills - bloody stools
Children with chronic diarrhea who have malabsorption can experience
- bloating and swelling, also called distention, of the abdomen - changes in appetite - weight loss or poor weight gain
Consult a Health Care Provider A childs parent or caretaker should consult a health care provider if the child - has diarrhea for more than 24 hours - is younger than 6 months old - has received treatment and the diarrhea persists Children with any of the following symptoms should see a health care provider right away: - signs of malabsorptionbloating and swelling of the abdomen, changes in appetite, and weight loss or poor weight gain - severe abdominal or rectal pain - a fever of 102 degrees or higher - stools containing blood or pus More information is provided in the NIDDK health topics: - Diarrhea - What I need to know about Diarrhea
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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 are the signs and symptoms of Brachyolmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachyolmia. 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) Platyspondyly 90% Short stature 90% Short thorax 90% 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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These resources address the diagnosis or management of Stevens-Johnson syndrome/toxic epidermal necrolysis: - Genetic Testing Registry: Stevens-Johnson syndrome - Genetic Testing Registry: Toxic epidermal necrolysis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
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What causes pachyonychia congenita? Pachyonychia congenita (PC) is caused by changes (mutations) in one of five genes: KRT6A, KRT6B, KRT6C, KRT16, and KRT17. These genes provide instructions for making a protein called keratin, which is found in the skin, hair, and nails. Mutations in any of these genes alter the structure of keratin proteins which interferes with their ability to provide strength and resilience to various parts of the body. This leads to the many signs and symptoms associated with pachyonychia congenita. PC is divided into 5 types based on the specific keratin gene involved: PC-K6a, PC-K6b, PC-K6c, PC-K16, and PC-K17.
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Gardner syndrome is a form of familial adenomatous polyposis (FAP) that is characterized by multiple colorectal polyps and various types of tumors, both benign (noncancerous) and malignant (cancerous). People affected by Gardner syndrome have a high risk of developing colorectal cancer at an early age. They are also at an increased risk of developing other FAP-related cancers, such as those of the small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland. Other signs and symptoms of Gardner syndrome include dental abnormalities; osteomas (benign bone growths); various skin abnormalities such as epidermoid cysts, fibromas (a benign tumor of the connective tissue), and lipomas; and desmoid tumors. It is caused by changes (mutations) in the APC gene and inherited in an autosomal dominant manner. Although there is no cure for Gardner syndrome, management options are available to reduce the risk of cancer. These may include high risk screening, prophylactic surgeries and/or certain types of medications.
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These resources address the diagnosis or management of pseudohypoaldosteronism type 2: - Gene Review: Gene Review: Pseudohypoaldosteronism Type II - Genetic Testing Registry: Pseudohypoaldosteronism, type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
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What causes abetalipoproteinemia? Abetalipoproteinemia is caused by changes (mutations) in the MTTP gene. The MTTP gene gives the body instructions to make a protein needed for creating beta-lipoproteins. These lipoproteins are necessary for the body to absorb fats, cholesterol, and fat-soluble vitamins (vitamins A, D, E and K), and for transporting these substances in the blood. Mutations in the MTTP result in a lack of beta-lipoproteins, leading to an inability to absorb and transport these substances. This in turn leads to the nutritional and neurologic problems in affected people.
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Farber lipogranulomatosis is a rare disorder. About 80 cases have been reported worldwide.
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These resources address the diagnosis or management of Vohwinkel syndrome: - Genetic Testing Registry: Mutilating keratoderma - Genetic Testing Registry: Vohwinkel syndrome, variant form These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
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Disseminated superficial actinic porokeratosis (DSAP) is a skin condition that causes dry patches. It is characterized by a large number of small, brownish patches with a distinctive border, found most commonly on sun-exposed areas of the skin (particularly the arms and legs). DSAP usually starts during the third or fourth decade of life and rarely affects children. Lesions usually appear in summer and improve or disappear during winter. While it is usually benign (not cancerous), squamous cell carcinoma or Bowens disease may occasionally develop within patches. DSAP may be inherited in an autosomal dominant matter or may occur sporadically (in people with no family history of DSAP). Some cases are caused by a change (mutation) in the MVK or SART3 genes. Treatment is generally not effective long-term but may include sun protection, topical medications, cryotherapy, and/or photodynamic therapy.
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Dihydropyrimidine dehydrogenase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Depending on the severity of these mutations, people with two mutated copies of the DPYD gene in each cell may exhibit the signs and symptoms of this disorder, or they may be generally asymptomatic but at risk for toxic reactions to fluoropyrimidine drugs. 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. However, people with one mutated copy of the DPYD gene in each cell may still experience toxic reactions to fluoropyrimidine drugs.
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The cause of sarcoidosis isn't known. More than one factor may play a role in causing the disease.
Some researchers think that sarcoidosis develops if your immune system responds to a trigger, such as bacteria, viruses, dust, or chemicals.
Normally, your immune system defends your body against foreign or harmful substances. For example, it sends special cells to protect organs that are in danger.
These cells release chemicals that recruit other cells to isolate and destroy the harmful substance. Inflammation occurs during this process. Once the harmful substance is gone, the cells and the inflammation go away.
In people who have sarcoidosis, the inflammation doesn't go away. Instead, some of the immune system cells cluster to form lumps called granulomas in various organs in your body.
Genetics also may play a role in sarcoidosis. Researchers believe that sarcoidosis occurs if:
You have a certain gene or genes that raise your risk for the disease
And
You're exposed to something that triggers your immune system
Triggers may vary depending on your genetic makeup. Certain genes may influence which organs are affected and the severity of your symptoms.
Researchers continue to try to pinpoint the genes that are linked to sarcoidosis.
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Familial hypertrophic cardiomyopathy (HCM) is an inherited heart condition characterized by thickening of the heart muscle. The thickening most often occurs in the muscle wall that separates the left and right ventricles from each other (interventricular septum). This may restrict the flow of oxygen-rich blood from the heart, or it may lead to less efficient pumping of blood. Signs and symptoms can vary. While some people have no symptoms, others may have chest pain, shortness of breath, palpitations, lightheadedness, dizziness, and/or fainting. Even in the absence of symptoms, familial HCM can have serious consequences such as life-threatening arrhythmias, heart failure, and an increased risk of sudden death. Familial HCM may be caused by mutations in any of several genes and is typically inherited in an autosomal dominant manner. Treatment may depend on severity of symptoms and may include medications, surgical procedures, and/or an implantable cardioverter-defibrillator (ICD).
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The cause of Kawasaki disease isn't known. The body's response to a virus or infection combined with genetic factors may cause the disease. However, no specific virus or infection has been found, and the role of genetics isn't known.
Kawasaki disease can't be passed from one child to another. Your child won't get it from close contact with a child who has the disease. Also, if your child has the disease, he or she can't pass it to another child.
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Home care is care that allows a person with special needs stay in their home. It might be for people who are getting older, are chronically ill, recovering from surgery, or disabled. Home care services include - Personal care, such as help with bathing, washing your hair, or getting dressed - Homemaking, such as cleaning, yard work, and laundry - Cooking or delivering meals - Health care, such as having a home health aide come to your home You can get almost any type of help you want in your home. Some types of care and community services are free or donated. Many other types you have to pay for. Sometimes government programs or your health insurance will help cover the cost of certain home care services.
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What are the signs and symptoms of Warfarin sensitivity? The Human Phenotype Ontology provides the following list of signs and symptoms for Warfarin sensitivity. 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 blood and blood-forming tissues - Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Signs and symptoms of pancreatic cancer include jaundice, pain, and weight loss.
Pancreatic cancer may not cause early signs or symptoms. Signs and symptoms may be caused by pancreatic cancer or by other conditions. Check with your doctor if you have any of the following: - Jaundice (yellowing of the skin and whites of the eyes). - Light-colored stools. - Dark urine. - Pain in the upper or middle abdomen and back. - Weight loss for no known reason. - Loss of appetite. - Feeling very tired.
Pancreatic cancer is difficult to detect (find) and diagnose early.
Pancreatic cancer is difficult to detect and diagnose for the following reasons: - There arent any noticeable signs or symptoms in the early stages of pancreatic cancer. - The signs and symptoms of pancreatic cancer, when present, are like the signs and symptoms of many other illnesses. - The pancreas is hidden behind other organs such as the stomach, small intestine, liver, gallbladder, spleen, and bile ducts.
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Treatment is available after accurate diagnosis. Your doctor will provide prescription medication, either praziquantel or niclosamide, which is taken by mouth. The medication is also available in a children’s dosage. Work with your health care provider for proper treatment options for you and your family.
More on: Resources For Health Professionals: Treatment
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HID is a rare disorder. Its prevalence is unknown.
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SMA-PME is a rare disorder; approximately a dozen affected families have been described in the scientific literature.
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Mutations in the ACADSB gene cause 2-methylbutyryl-CoA dehydrogenase deficiency. The ACADSB gene provides instructions for making an enzyme called 2-methylbutyryl-CoA dehydrogenase that helps process the amino acid isoleucine. Mutations in the ACADSB gene reduce or eliminate the activity of this enzyme. With a shortage (deficiency) of 2-methylbutyryl-CoA dehydrogenase, the body is unable to break down isoleucine properly. As a result, isoleucine is not converted to energy, which can lead to characteristic features of this disorder, such as lethargy and muscle weakness. Also, an organic acid called 2-methylbutyrylglycine and related compounds may build up to harmful levels, causing serious health problems.
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How is chromosome 4q deletion inherited? Chromosome 4q deletion is usually not inherited. The deletion often occurs sporadically as a random event during the formation of the egg or sperm. In this case, a person would have no family history of the condition but could pass the deletion on to children. Rarely, this deletion is passed down from parent to child. However, the symptoms and severity can vary between family members.
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This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is typically sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Some people who have one altered copy of the GNAI3 or PLCB4 gene have no features related to auriculo-condylar syndrome. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the condition and other people with a mutated gene do not.
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The prostate is the gland below a man's bladder that produces fluid for semen. Prostate cancer is common among older men. It is rare in men younger than 40. Risk factors for developing prostate cancer include being over 65 years of age, family history, and being African-American. Symptoms of prostate cancer may include - Problems passing urine, such as pain, difficulty starting or stopping the stream, or dribbling - Low back pain - Pain with ejaculation To diagnose prostate cancer, you doctor may do a digital rectal exam to feel the prostate for lumps or anything unusual. You may also get a blood test for prostate-specific antigen (PSA). These tests are also used in prostate cancer screening, which looks for cancer before you have symptoms. If your results are abnormal, you may need more tests, such as an ultrasound, MRI, or biopsy. Treatment often depends on the stage of the cancer. How fast the cancer grows and how different it is from surrounding tissue helps determine the stage. Men with prostate cancer have many treatment options. The treatment that's best for one man may not be best for another. The options include watchful waiting, surgery, radiation therapy, hormone therapy, and chemotherapy. You may have a combination of treatments. NIH: National Cancer Institute
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These resources address the diagnosis or management of Baraitser-Winter syndrome: - Gene Review: Gene Review: Baraitser-Winter Cerebrofrontofacial Syndrome - Genetic Testing Registry: Baraitser-Winter Syndrome 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
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Danon disease is caused by mutations in the LAMP2 gene. The LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is found in the membrane of cellular structures called lysosomes. Lysosomes are compartments in the cell that digest and recycle materials. The role the LAMP-2 protein plays in the lysosome is unclear. Some researchers think the LAMP-2 protein may help transport cellular materials or digestive enzymes into the lysosome. The transport of cellular materials into lysosomes requires the formation of cellular structures called autophagic vacuoles (or autophagosomes), which then attach (fuse) to lysosomes. The LAMP-2 protein may be involved in the fusion between autophagic vacuoles and lysosomes. Mutations in the LAMP2 gene lead to the production of very little or no LAMP-2 protein, which may impair the process of transporting cellular material into the lysosome. Some studies have shown that in cells without the LAMP-2 protein, fusion between autophagic vacuoles and lysosomes occurs more slowly, which may lead to the accumulation of autophagic vacuoles. People with Danon disease have an abnormally large number of autophagic vacuoles in their muscle cells. It is possible that this accumulation leads to breakdown of the muscle cells, causing the muscle weakness seen in Danon disease.
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Neutral lipid storage disease with myopathy is a rare condition; its incidence is unknown.
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Juvenile polyposis syndrome occurs in approximately 1 in 100,000 individuals worldwide.
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Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood. Occipital horn syndrome (sometimes called X-linked cutis laxa) is a less severe form of Menkes syndrome that begins in early to middle childhood. It is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints.
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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 cardioverter defibrillator (ICD). They are devices that are implanted in your chest or abdomen. A pacemaker helps control abnormal heart rhythms. It uses electrical pulses to prompt the heart to beat at a normal rate. It can speed up a slow heart rhythm, control a fast heart rhythm, and coordinate the chambers of the heart. An ICD monitors heart rhythms. If it senses dangerous rhythms, it delivers shocks. This treatment is called defibrillation. An ICD can help control life-threatening arrhythmias, especially those that can cause sudden cardiac arrest (SCA). Most new ICDs can act as both a pacemaker and a defibrillator. Many ICDs also record the heart's electrical patterns when there is an abnormal heartbeat. This can help the doctor plan future treatment. Getting a pacemaker or ICD requires minor surgery. You usually need to stay in the hospital for a day or two, so your doctor can make sure that the device is working well. You will probably be back to your normal activities within a few days.
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What treatment has been attempted in patients who have aquagenic pruritus? The underlying cause of aquagenic pruritus is not well understood which complicates the decision about what therapy might be best for treatment. Various options have been tried with varying success. Antihistamines are the mainstay of treatment. Other therapies that have been tried include adding adding sodium bicarbonate to bath water, topical capsaicin, selective serotonin reuptake inhibitors, UVB phototherapy, PUVA therapy, naltrexone, propranolol, and atenolol.
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Yes. Diet, weight, physical activity, tobacco and alcohol use, occupation, and where you live can each increase or decrease disease risk. For example, smoking increases the chance of developing heart disease and cancer. Sun exposure is the major known environmental factor associated with the development of skin cancer of all types. However, other environmental and genetic factors can also increase a persons risk. The best defense against skin cancer is to encourage sun-protective behaviors, regular skin examinations, and skin self-awareness in an effort to decrease high-risk behaviors and optimize early detection of problems. Learn more about the causes and risk factors for skin cancer.
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What are the signs and symptoms of Cataract microcornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract microcornea 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) Cataract 90% Microcornea 90% Myopia 50% Corneal dystrophy 7.5% Iris coloboma 7.5% Nystagmus 7.5% Opacification of the corneal stroma 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.
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How are Klebsiella infections diagnosed? Klebsiella infections are usually diagnosed by examining a small sample of blood, mucus, and/or urine. Chest x-rays or positron emission tomography (PET scan) may also be used to further evaluate infections that affect the lungs such as community-acquired pneumonia. When a Klebsiella infection is suspected, possible sites of infection including wounds, intravenous (vein) catheters, urinary catheters, and breathing machines should also be tested for the presence of Klebsiella bacteria.
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Yes. Some skin cancer patients take part in studies of new treatments. These studies, called clinical trials, are designed to find out whether a new treatment is both safe and effective. Clinical trials are research studies with people to find out whether a new drug, therapy, or treatment is both safe and effective. New therapies are tested on people only after laboratory and animal studies show promising results. The Food and Drug Administration sets strict rules to make sure that people who agree to be in the studies are treated as safely as possible. Often, clinical trials compare a new treatment with a standard one so that doctors can learn which is more effective. Talk to your doctor if you are interested in taking part in a clinical trial. The U.S. National Institutes of Health, through its National Library of Medicine and other Institutes, maintains a database of clinical trials at ClinicalTrials.gov. - Click here to see a list of the current clinical trials on melanoma. - Click here to see a list of the current clinical trials on non-melanoma skin cancer. Click here to see a list of the current clinical trials on melanoma. Click here to see a list of the current clinical trials on non-melanoma skin cancer. A separate window will open. Click the "x" in the upper right hand corner of the "Clinical Trials" window to return here.
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Indigestion, also known as dyspepsia, is a term used to describe one or more symptoms including a feeling of fullness during a meal, uncomfortable fullness after a meal, and burning or pain in the upper abdomen.
Indigestion is common in adults and can occur once in a while or as often as every day.
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Overall, HDL syndromes are rare. They are much less common than Huntington disease, which affects an estimated 3 to 7 per 100,000 people of European ancestry. Of the four described HDL syndromes, HDL4 appears to be the most common. HDL2 is the second most common and occurs almost exclusively in people of African heritage (especially black South Africans). HDL1 has been reported in only one family. HDL3 has been found in two families, both of which were from Saudi Arabia.
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Mutations in the NSD1 gene are the primary cause of Sotos syndrome, accounting for up to 90 percent of cases. Other genetic causes of this condition have not been identified. The NSD1 gene provides instructions for making a protein that functions as a histone methyltransferase. Histone methyltransferases are enzymes that modify structural proteins called histones, which attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (a process called methylation), histone methyltransferases regulate the activity of certain genes and can turn them on and off as needed. The NSD1 protein controls the activity of genes involved in normal growth and development, although most of these genes have not been identified. Genetic changes involving the NSD1 gene prevent one copy of the gene from producing any functional protein. Research suggests that a reduced amount of NSD1 protein disrupts the normal activity of genes involved in growth and development. However, it remains unclear exactly how a shortage of this protein during development leads to overgrowth, learning disabilities, and the other features of Sotos syndrome.
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Smell is part of our chemical sensing system. Our sense of smell is the ability to detect odors in our environment through our nose, like the fragrance of flowers or the smell of baking bread. Smell is also the ability to detect food odors or aromas released in our mouths when we chew, which then flow from the roof of the throat region to the nose. Congestion blocks this flow and impacts our appreciation of the flavor of food.
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Hypoaldosteronism is a condition characterized by the shortage (deficiency) or impaired function of a hormone called aldosterone. Hypoaldosteronism may be described as hyporeninemic or hyperreninemic depending on renin levels. Hyporeninemic hypoaldosteronism occurs when there is decreased production of aldosterone due to decreased production of renin . Affected individuals typically have kidney (renal) disease due to various conditions, such as diabetes, interstitial nephritis, or multiple myeloma. Hyperreninemic hypoaldosteronism occurs when there is a problem with the production of aldosterone, but renin is produced normally by the kidneys. Common causes of this form of hypoaldosteronism are medications (ACE inhibitors), lead poisoning, severe illness, and aldosterone enzyme defects.
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Costeff syndrome affects an estimated 1 in 10,000 individuals in the Iraqi Jewish population, in which at least 40 cases have been described. Outside this population, only a few affected individuals have been identified.
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To find the cause of diarrhea, the health care provider may
- perform a physical exam - ask about any medicines you are taking - test your stool or blood to look for bacteria, parasites, or other signs of disease or infection - ask you to stop eating certain foods to see whether your diarrhea goes away
If you have chronic diarrhea, your health care provider may perform other tests to look for signs of disease.
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Classic galactosemia occurs in 1 in 30,000 to 60,000 newborns. Galactosemia type II and type III are less common; type II probably affects fewer than 1 in 100,000 newborns and type III appears to be very rare.
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This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. In conditions that are caused by repeated segments of DNA, the number of repeats often increases when the altered gene is passed down from one generation to the next. Additionally, a larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. Some families affected by SCA36 have demonstrated anticipation while others have not. When anticipation is observed in SCA36, the mutation is most often passed down from the affected father.
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How might hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) be treated? At this time there is no effective treatment for hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Treatment of HERNS is largely palliative, which means that it is aimed at decreasing pain and suffering by providing treatments for relief of symptoms along with comfort and support. In some cases, aspirin may be recommended. Laser treatment to prevent retinal hemorrhage may be beneficial to some affected individuals. A continuous maintenance dose of corticosteroids may be prescribed to manage cerebral edema (swelling in the brain).
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Spondylocostal dysostosis can have different inheritance patterns. Types 1, 2, 3, and 4 are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. AD spondylocostal dysostosis is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to cause the disorder, although in these cases no causative genes have been identified. The signs and symptoms of spondylocostal dysostosis are typically more severe with autosomal recessive inheritance.
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Mutations in the ALPL gene cause hypophosphatasia. The ALPL gene provides instructions for making an enzyme called alkaline phosphatase. This enzyme plays an essential role in mineralization of the skeleton and teeth. Mutations in the ALPL gene lead to the production of an abnormal version of alkaline phosphatase that cannot participate effectively in the mineralization process. A shortage of alkaline phosphatase allows several other substances, which are normally processed by the enzyme, to build up abnormally in the body. Researchers believe that a buildup of one of these compounds, inorganic pyrophosphate (PPi), underlies the defective mineralization of bones and teeth in people with hypophosphatasia. ALPL mutations that almost completely eliminate the activity of alkaline phosphatase usually result in the more severe forms of hypophosphatasia. Other mutations, which reduce but do not eliminate the activity of the enzyme, are often responsible for milder forms of the condition.
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The National Eye Institute scientists are - studying the possibility of transplanting healthy cells into a diseased retina - evaluating families with a history of AMD to understand genetic and hereditary factors that may cause the disease - looking at certain anti-inflammatory treatments for the wet form of AMD. studying the possibility of transplanting healthy cells into a diseased retina evaluating families with a history of AMD to understand genetic and hereditary factors that may cause the disease looking at certain anti-inflammatory treatments for the wet form of AMD. This research should provide better ways to detect, treat, and prevent vision loss in people with AMD.
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Summary : Pain relievers are medicines that reduce or relieve headaches, sore muscles, arthritis, or other aches and pains. There are many different pain medicines, and each one has advantages and risks. Some types of pain respond better to certain medicines than others. Each person may also have a slightly different response to a pain reliever. Over-the-counter (OTC) medicines are good for many types of pain. There are two main types of OTC pain medicines: acetaminophen (Tylenol) and nonsteroidal anti-inflammatory drugs (NSAIDs). Aspirin, naproxen (Aleve), and ibuprofen (Advil, Motrin) are examples of OTC NSAIDs. If OTC medicines don't relieve your pain, your doctor may prescribe something stronger. Many NSAIDs are also available at higher prescription doses. The most powerful pain relievers are narcotics. They are very effective, but they can sometimes have serious side effects. Because of the risks, you must use them only under a doctor's supervision. There are many things you can do to help ease pain. Pain relievers are just one part of a pain treatment plan.
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Facioscapulohumeral muscular dystrophy has an estimated prevalence of 1 in 20,000 people. About 95 percent of all cases are FSHD1; the remaining 5 percent are FSHD2.
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What causes a pilomatrixoma? The exact underlying cause of pilomatrixoma is not well understood. Changes (mutations) in the CTNNB1 gene are found in at least 75% of isolated (without other signs and symptoms) pilomatrixomas. These mutations are somatic, which means they are not inherited and are only present in the tumor cells. The CTNNB1 gene encodes a protein that is needed to regulate cell growth and attachment. When the gene is not working properly, it can result in abnormal cell growth. Rarely, pilomatrixomas occur in people with certain genetic syndromes such as Gardner syndrome, myotonic dystrophy, and Rubinstein-Taybi syndrome. In these cases, affected people usually have other characteristic features of the associated condition.
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Cystic fibrosis (CF) affects both males and females and people from all racial and ethnic groups. However, the disease is most common among Caucasians of Northern European descent.
CF also is common among Latinos and American Indians, especially the Pueblo and Zuni. The disease is less common among African Americans and Asian Americans.
More than 10 million Americans are carriers of a faulty CF gene. Many of them don't know that they're CF carriers.
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What causes Lemierre syndrome? In about 90% of cases, Lemierre syndrome is caused by Fusobacterium necrophorum; however, the syndrome has also been reported with other bacteria, including Stapylococcus aureus, Bacteroides, Eikenella, Porphyromonas, Prevotella, Proteus, Peptostreptococcus and Streptococcus pyogenes.
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Susceptibility to Brooke-Spiegler syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.
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The prognosis for those with the severe forms of Pelizaeus-Merzbacher disease is poor, with progressive deterioration until death. On the other end of the disease spectrum, individuals with the mild form, in which spastic paraplegia is the chief symptom, may have nearly normal activity and life span.
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How is Schwartz Jampel syndrome type 1 inherited? The majority of cases of Schwartz Jampel syndrome type 1 (SJS1) are inherited in an autosomal recessive pattern. This means that to have the disorder, a person must have a mutation in both copies of the responsible gene in each cell. Individuals with SJS1 inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). Rarely, cases of SJS1 with autosomal dominant inheritance have been reported. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition.
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What are the signs and symptoms of Corneal hypesthesia, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal hypesthesia, familial. 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 skeletal system - Autosomal dominant inheritance - Decreased corneal sensation - Recurrent corneal erosions - 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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To diagnose RTA, doctors check the acid-base balance in blood and urine samples. If the blood is more acidic than it should be and the urine less acidic than it should be, RTA may be the reason, but additional information is needed to rule out other causes. If RTA is the reason, additional information about the sodium, potassium, and chloride levels in the urine and the potassium level in the blood will help identify which type of RTA a person has. In all cases, the first goal of therapy is to neutralize acid in the blood, but different treatments may be needed to address the different underlying causes of acidosis.
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21-hydroxylase-deficiency is a genetic disorder of cortisol biosynthesis. It is caused by mutations in the human 21-hydroxylase gene (CYP21A2). Symptoms of 21-hydroxylase deficiency vary, but can involve salt-wasting crises in infants; ambiguous genitalia in female infants; excessive hair, deep voice, abnormal periods, no periods, and fertility problems in older girls and women; early development of masculine features in boys; and shorter than average adult height, acne, and blood pressure problems.
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Prurigo nodularis is a skin condition characterized by hard crusty lumps that itch intensely. The exact cause of the condition is unknown. However, it can occur in isolation or as a result of repeated trauma to chronic pruritus (itching). Treatment for the condition can be challenging.
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Autosomal dominant congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they are not able to identify road signs at night and some people cannot see stars in the night sky. Affected individuals have normal daytime vision and typically do not have other vision problems related to this disorder. The night blindness associated with this condition is congenital, which means it is present from birth. This vision impairment tends to remain stable (stationary); it does not worsen over time.
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Meesmann corneal dystrophy is a rare disorder whose prevalence is unknown. It was first described in a large, multi-generational German family with more than 100 affected members. Since then, the condition has been reported in individuals and families worldwide.
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Signs and symptoms of laryngeal cancer include a sore throat and ear pain. These and other signs and symptoms may be caused by laryngeal cancer or by other conditions. Check with your doctor if you have any of the following: - A sore throat or cough that does not go away. - Trouble or pain when swallowing. - Ear pain. - A lump in the neck or throat. - A change or hoarseness in the voice.
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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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Between 2003 and 2012, the NINDS piloted the Spinal Muscular Atrophy Project to expedite therapeutics development for this hereditary neurodegenerative disease. The Project was designed to accelerate the research process by identifying drugs that increase the level of SMN protein in cultured cells, so that they could be used as potential leads for further drug discovery and clinical testing. Read more about the history of this pioneering effort and how it led to collaboration with several pharmaceutical and biotechnology companies.
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Intrahepatic cholestasis of pregnancy is a liver disorder that occurs in pregnant women. Cholestasis is a condition that impairs the release of a digestive fluid called bile from liver cells. As a result, bile builds up in the liver, impairing liver function. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. Intrahepatic cholestasis of pregnancy usually becomes apparent in the third trimester of pregnancy. Bile flow returns to normal after delivery of the baby, and the signs and symptoms of the condition disappear. However, they can return during later pregnancies. This condition causes severe itchiness (pruritus) in the expectant mother. The itchiness usually begins on the palms of the hands and the soles of the feet and then spreads to other parts of the body. Occasionally, affected women have yellowing of the skin and whites of the eyes (jaundice). Some studies have shown that women with intrahepatic cholestasis of pregnancy are more likely to develop gallstones sometime in their life than women who do not have the condition. Intrahepatic cholestasis of pregnancy can cause problems for the unborn baby. This condition is associated with an increased risk of premature delivery and stillbirth. Additionally, some infants born to mothers with intrahepatic cholestasis of pregnancy have a slow heart rate and a lack of oxygen during delivery (fetal distress).
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It is estimated that the prevalence of pheochromocytoma is 1 in 500,000 people, and the prevalence of other paragangliomas is 1 in 1 million people. These statistics include syndromic and nonsyndromic paraganglioma and pheochromocytoma.
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Prothrombin deficiency is very rare; it is estimated to affect 1 in 2 million people in the general population.
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Mutations in the PRPS1 gene cause Arts syndrome. The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, which are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. The PRPS1 gene mutations that cause Arts syndrome replace single protein building blocks (amino acids) in the PRPP synthetase 1 enzyme. The resulting enzyme is probably unstable, reducing or eliminating its ability to perform its function. The disruption of purine and pyrimidine production may impair energy storage and transport in cells. Impairment of these processes may have a particularly severe effect on tissues that require a large amount of energy, such as the nervous system, resulting in the neurological problems characteristic of Arts syndrome. The reason for the increased risk of respiratory infections in Arts syndrome is unclear.
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Yes. Both treatments are very effective in reducing vision loss. People with proliferative retinopathy can reduce their risk of blindness by 95 percent with timely treatment and appropriate follow-up care. Although both treatments have high success rates, they do not cure diabetic retinopathy. Once you have proliferative retinopathy, you always will be at risk for new bleeding. You may need treatment more than once to protect your sight.
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Researchers have not found a way to prevent childhood nephrotic syndrome when the cause is idiopathic or congenital.
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These resources address the diagnosis or management of Myhre syndrome: - Centers for Disease Control and Prevention: Types of Hearing Loss - Genetic Testing Registry: Myhre syndrome - National Institute on Deafness and Other Communication Disorders: Communication Considerations for Parents of Deaf and Hard-of-Hearing Children These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
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Glucose-galactose malabsorption is a rare disorder; only a few hundred cases have been identified worldwide. However, as many as 10 percent of the population may have a somewhat reduced capacity for glucose absorption without associated health problems. This condition may be a milder variation of glucose-galactose malabsorption.
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For severe heart failure, patients may require additional oxygen, a mechanical heart pump, or a heart transplant.
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Interstitial cystitis (IC) is a condition that causes discomfort or pain in the bladder and a need to urinate frequently and urgently. It is far more common in women than in men. The symptoms vary from person to person. Some people may have pain without urgency or frequency. Others have urgency and frequency without pain. Women's symptoms often get worse during their periods. They may also have pain with sexual intercourse. The cause of IC isn't known. There is no one test to tell if you have it. Doctors often run tests to rule out other possible causes of symptoms. There is no cure for IC, but treatments can help most people feel better. They include - Distending, or inflating, the bladder - Bathing the inside of the bladder with a drug solution - Oral medicines - Electrical nerve stimulation - Physical therapy - Lifestyle changes - Bladder training - In rare cases, surgery NIH: National Institute of Diabetes and Digestive and Kidney Diseases
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Summary : Cloning describes the processes used to create an exact genetic replica of another cell, tissue or organism. The copied material, which has the same genetic makeup as the original, is referred to as a clone. The most famous clone was a Scottish sheep named Dolly. There are three different types of cloning: - Gene cloning, which creates copies of genes or segments of DNA - Reproductive cloning, which creates copies of whole animals - Therapeutic cloning, which creates embryonic stem cells. Researchers hope to use these cells to grow healthy tissue to replace injured or diseased tissues in the human body. NIH: National Human Genome Research Institute
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A cyst is a fluid-filled sac. In most cases a cyst on the ovary does no harm and goes away by itself. Most women have them sometime during their lives. Cysts are rarely cancerous in women under 50. Cysts sometimes hurt - but not always. Often, a woman finds out about a cyst when she has a pelvic exam. If you're in your childbearing years or past menopause, have no symptoms, and have a fluid-filled cyst, you may choose to monitor the cyst. You may need surgery if you have pain, are past menopause or if the cyst does not go away. Birth control pills can help prevent new cysts. A health problem that may involve ovarian cysts is polycystic ovary syndrome (PCOS). Women with PCOS can have high levels of male hormones, irregular or no periods and small ovarian cysts. Dept. of Health and Human Services Office on Women's Health
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