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treatment | What are the treatments for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ? | The HHS has identified 29 cases of CJD among the nearly 7,700 people in the United States who received NHPP pituitary hGH. None of the 29 people who got CJD began treatment with pituitary hGH after 1977, the year that the NHPP began producing pituitary hGH in a laboratory (headed by Dr. Albert Parlow) using a new purification step. Today, the growth hormone used to treat patients is made biosynthetically and not from human pituitary glands. Biosynthetic growth hormone (bGH), also known as recombinant human growth hormone (rhGH), poses no threat of infection with CJD.
Based on NHPP records, the HHS estimated 7,700 people were treated with pituitary hGH from the NHPP. Of these, the HHS got the names and addresses of 6,272 from their doctors and treatment centers so that their health could be monitored. Another 1,400 people are believed to have been treated with pituitary hGH; however, the HHS does not have their names and addresses. The HHS hoped to learn about CJD and other health problems in the unmonitored group of 1,400 and notified many doctors about the problem of CJD, asking them to report CJD among people treated with pituitary hGH. The HHS has learned that five of the 29 people with confirmed CJD were among the 1,400 people the HHS was not able to identify and study.
Some U.S. laboratories that made pituitary hGH for the NHPP also made hGH for use in other countries. The HHS learned that six people in New Zealand and two people in Brazil who received U.S.-made pituitary hGH may also have gotten CJD. A total of 37 people who were treated with pituitary hGH made in the United States may have gotten CJD.
Before bGH was available, several pharmaceutical companies made pituitary hGH. Some children treated in the U.S. received hormone produced by these companies when NHPP hGH was not available to them. Some of the 29 people with confirmed CJD received hGH from both the NHPP and a pharmaceutical company. Recently, the HHS has learned of an individual treated in the U.S. who developed CJD and received only commercial pituitary hGH. That person was not eligible for NHPP hGH and received pituitary hGH made by two pharmaceutical companies. |
frequency | How many people are affected by familial hemophagocytic lymphohistiocytosis ? | Familial hemophagocytic lymphohistiocytosis occurs in approximately 1 in 50,000 individuals worldwide. |
symptoms | What are the symptoms of Neutropenia chronic familial ? | What are the signs and symptoms of Neutropenia chronic familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutropenia chronic 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) Autosomal dominant inheritance - Clubbing of fingers - Gingivitis - Increased antibody level in blood - Neutropenia - Periodontitis - Premature loss of teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
inheritance | Is deafness and myopia syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
inheritance | Is Schizencephaly inherited ? | Is schizencephaly inherited? Schizencephaly is not thought to be inherited in most cases and it rarely affects more than one person in a family. A few cases of familial schizencephaly have been linked to changes (mutations) in the EMX2 gene. |
susceptibility | Who is at risk for Crimean-Congo Hemorrhagic Fever (CCHF)? ? | Animal herders, livestock workers, and slaughterhouse workers in endemic areas are at risk of CCHF. Healthcare workers in endemic areas are at risk of infection through unprotected contact with infectious blood and body fluids. Individuals and international travelers with contact to livestock in endemic regions may also be exposed. |
genetic changes | What are the genetic changes related to Schwartz-Jampel syndrome ? | Schwartz-Jampel syndrome is caused by mutations in the HSPG2 gene. This gene provides instructions for making a protein known as perlecan. This protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Specifically, it is found in part of the extracellular matrix called the basement membrane, which is a thin, sheet-like structure that separates and supports cells in many tissues. Perlecan is also found in cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Perlecan has multiple functions, including cell signaling and the normal maintenance of basement membranes and cartilage. The protein also plays a critical role at the neuromuscular junction, which is the area between the ends of nerve cells and muscle cells where signals are relayed to trigger muscle contraction. The mutations that cause Schwartz-Jampel syndrome reduce the amount of perlecan that is produced or lead to a version of perlecan that is only partially functional. A reduction in the amount or function of this protein disrupts the normal development of cartilage and bone tissue, which underlies chondrodysplasia in affected individuals. A reduced amount of functional perlecan at the neuromuscular junction likely alters the balance of other molecules that signal when muscles should contract and when they should relax. As a result, muscle contraction is triggered continuously, leading to myotonia. |
information | What is (are) Neuropathy ataxia retinitis pigmentosa syndrome ? | Neuropathy ataxia retinitis pigmentosa (NARP) syndrome is characterized by a variety of signs and symptoms that mainly affect the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination (ataxia). Affected individuals may also have vision loss caused by a condition called retinitis pigmentosa. Other features of NARP include learning disabilities, developmental delay, seizures, dementia, hearing loss, and cardiac conduction defects. Mutations in the MT-ATP6 gene cause NARP syndrome. This gene is located within mitochondrial DNA (mtDNA). Most individuals with NARP have a specific MT-ATP6 mutation in 70 percent to 90 percent of their mitochondria. NARP syndrome is inherited from the mother (maternal inheritance) because only females pass mitochondrial DNA to their children. |
treatment | What are the treatments for Larsen syndrome ? | These resources address the diagnosis or management of Larsen syndrome: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Larsen syndrome - Genetic Testing Registry: Larsen syndrome, dominant type 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 |
causes | What causes Leber hereditary optic neuropathy ? | What causes Leber hereditary optic neuropathy (LHON)? Leber hereditary optic neuropathy is a condition related to changes in mitochondrial DNA. Mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes cause LHON. These genes are contained in mitochondrial DNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). The genes related to Leber hereditary optic neuropathy each provide instructions for making a protein involved in normal mitochondrial function. These proteins are part of a large enzyme complex in mitochondria that helps convert oxygen and simple sugars to energy. Mutations in any of the genes disrupt this process. It remains unclear how these genetic changes cause the death of cells in the optic nerve and lead to the specific features of Leber hereditary optic neuropathy. Click here to visit the Genetic Home Reference Web site to learn more about how mutations in these genes cause Leber hereditary optic neuropathy. |
considerations | What to do for Urine Blockage in Newborns ? | Researchers have not found that a mothers eating, diet, and nutrition play a role in causing or preventing urine blockage in newborns. |
symptoms | What are the symptoms of Reynolds syndrome ? | What are the signs and symptoms of Reynolds syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reynolds syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the gastric mucosa 90% Hepatomegaly 90% Myalgia 90% Pruritus 90% Abnormality of temperature regulation 50% Acrocyanosis 50% Arthritis 50% Chondrocalcinosis 50% Feeding difficulties in infancy 50% Irregular hyperpigmentation 50% Keratoconjunctivitis sicca 50% Lack of skin elasticity 50% Mucosal telangiectasiae 50% Skin rash 50% Skin ulcer 50% Telangiectasia of the skin 50% Xerostomia 50% Ascites 7.5% Cirrhosis 7.5% Encephalitis 7.5% Lichenification 7.5% Respiratory insufficiency 7.5% Autosomal dominant inheritance - Biliary cirrhosis - Calcinosis - Elevated alkaline phosphatase - Elevated hepatic transaminases - Gastrointestinal hemorrhage - Hyperbilirubinemia - Jaundice - Lip telangiectasia - Palmar telangiectasia - Sclerodactyly - Splenomegaly - Steatorrhea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
inheritance | Is retroperitoneal fibrosis inherited ? | Most cases of retroperitoneal fibrosis are sporadic, which means that they occur in people with no apparent history of the disorder in their family. In rare cases, the condition has been reported to occur in a few members of the same family, but the inheritance pattern is unknown. |
susceptibility | Who is at risk for Thrombotic Thrombocytopenic Purpura? ? | Thrombotic thrombocytopenic purpura (TTP) is a rare disorder. Most cases of TTP are acquired. Acquired TTP mostly occurs in adults, but it can affect children. The condition occurs more often in women and in Black people than in other groups.
Inherited TTP mainly affects newborns and children. Most people who have inherited TTP begin to have symptoms soon after birth. Some, however, don't have symptoms until they're adults.
It isn't clear what triggers inherited and acquired TTP, but some factors may play a role. These factors may include:
Some diseases and conditions, such as pregnancy, cancer, HIV, lupus, and infections
Some medical procedures, such as surgery and blood and marrow stem cell transplant
Some medicines, such as chemotherapy, ticlopidine, clopidogrel, cyclosporine A, and hormone therapy and estrogens
Quinine, which is a substance often found in tonic water and nutritional health products |
symptoms | What are the symptoms of Antley Bixler syndrome ? | What are the signs and symptoms of Antley Bixler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Antley Bixler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology 90% Abnormality of the femur 90% Abnormality of the ribs 90% Anteverted nares 90% Arachnodactyly 90% Camptodactyly of finger 90% Frontal bossing 90% Humeroradial synostosis 90% Hypoplasia of the zygomatic bone 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Narrow chest 90% Short nose 90% Abnormality of the urinary system 50% Choanal atresia 50% Craniosynostosis 50% Proptosis 50% Cleft palate 7.5% Hypertelorism 7.5% Long philtrum 7.5% Narrow mouth 7.5% Recurrent fractures 7.5% Strabismus 7.5% Talipes 7.5% Underdeveloped supraorbital ridges 7.5% Abnormal renal morphology - Abnormalities of placenta or umbilical cord - Abnormality of metabolism/homeostasis - Abnormality of the abdomen - Abnormality of the endocrine system - Abnormality of the pinna - Arnold-Chiari malformation - Atria septal defect - Autosomal recessive inheritance - Bifid scrotum - Brachycephaly - Bronchomalacia - Camptodactyly - Carpal synostosis - Choanal stenosis - Chordee - Clitoromegaly - Cloverleaf skull - Conductive hearing impairment - Coronal craniosynostosis - Cryptorchidism - Depressed nasal bridge - Femoral bowing - Fused labia minora - Hemivertebrae - Horseshoe kidney - Hydrocephalus - Hypoplasia of midface - Hypoplastic labia majora - Hypospadias - Intellectual disability - Joint contracture of the hand - Labial hypoplasia - Lambdoidal craniosynostosis - Laryngomalacia - Low maternal serum estriol - Malar flattening - Maternal virilization in pregnancy - Microcephaly - Micropenis - Narrow pelvis bone - Oligohydramnios - Polycystic ovaries - Radioulnar synostosis - Rocker bottom foot - Scoliosis - Scrotal hypoplasia - Small for gestational age - Stenosis of the external auditory canal - Tarsal synostosis - Ulnar bowing - Upper airway obstruction - Vaginal atresia - Vesicovaginal fistula - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
susceptibility | Who is at risk for Colon Cancer? ? | Health history affects the risk of developing colon cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk to your doctor if you think you may be at risk for colorectal cancer. Risk factors for colorectal cancer include the following: - Having a family history of colon or rectal cancer in a first-degree relative (parent, sibling, or child). - Having a personal history of cancer of the colon, rectum, or ovary. - Having a personal history of high-risk adenomas (colorectal polyps that are 1 centimeter or larger in size or that have cells that look abnormal under a microscope). - Having inherited changes in certain genes that increase the risk of familial adenomatous polyposis (FAP) or Lynch syndrome (hereditary nonpolyposis colorectal cancer). - Having a personal history of chronic ulcerative colitis or Crohn disease for 8 years or more. - Having three or more alcoholic drinks per day. - Smoking cigarettes. - Being black. - Being obese. Older age is a main risk factor for most cancers. The chance of getting cancer increases as you get older. |
research | what research (or clinical trials) is being done for Machado-Joseph Disease ? | The NINDS supports research on Lyme disease. Current areas of interest include improving diagnostic tests and developing more effective treatments. The National Institute of Allergy and Infectious Diseases (NIAID), the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and the National Center for Research Resources (NCRR), all parts of the National Institutes of Health (NIH), also support research on Lyme disease. |
frequency | How many people are affected by beta-ureidopropionase deficiency ? | The prevalence of beta-ureidopropionase deficiency is unknown. A small number of affected individuals from populations around the world have been described in the medical literature. In Japan, the prevalence of beta-ureidopropionase deficiency has been estimated as 1 in 6,000 people. Researchers suggest that in many affected individuals with absent or mild neurological problems, the condition may never be diagnosed. |
causes | What causes Mnire's disease ? | What causes Mnire's disease? The underlying cause of Mnire's disease is unknown, although it probably results from a combination of environmental and genetic factors. Possible factors that have been studied include viral infections; trauma to the middle ear; middle ear infection (otitis media); head injury; a hereditary predisposition; syphilis; allergies; abnormal immune system responses; migraines; and noise pollution. The symptoms of Mnire's disease are thought to relate to changes in fluid volume in the inner ear, which contains structures necessary for normal hearing and balance. Changes in fluid volume may disrupt signals sent from the inner ear to the brain, or may lead to tears or ruptures of the structures that affect hearing and balance. More detailed information about the causes of symptoms associated with Mnire's disease is available on NIDCD's Web site. |
information | What is (are) vitamin D-dependent rickets ? | Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). The condition is split into two major types: type 1 (VDDR1), which is also known as pseudovitamin D deficiency rickets or vitamin D 1-hydroxylase deficiency, and type 2 (VDDR2), also known as hereditary vitamin D-resistant rickets (HVDRR). The signs and symptoms of this condition begin within months of birth, and most are the same for VDDR1 and VDDR2. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop bowed legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the areas near the ends of bones where new bone forms (metaphyses), especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures. In vitamin D-dependent rickets, there is an imbalance of certain substances in the blood. Both VDDR1 and VDDR2 are characterized by low levels of the minerals calcium (hypocalcemia) and phosphate (hypophosphatemia), which are essential for the normal formation of bones and teeth. Affected individuals also have high levels of a hormone involved in regulating calcium levels called parathyroid hormone (PTH), which leads to a condition called secondary hyperparathyroidism. The two forms of vitamin D-dependent rickets can be distinguished by blood levels of a hormone called calcitriol, which is the active form of vitamin D; individuals with VDDR1 have abnormally low levels of calcitriol and individuals with VDDR2 have abnormally high levels. Hair loss (alopecia) can occur in VDDR2, although not everyone with this form of the condition has alopecia. Affected individuals can have sparse or patchy hair or no hair at all on their heads. Some affected individuals are missing body hair as well. |
symptoms | What are the symptoms of Polyarteritis nodosa ? | What are the signs and symptoms of Polyarteritis nodosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyarteritis nodosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Abnormal pyramidal signs 90% Abnormality of temperature regulation 90% Aneurysm 90% Arthralgia 90% Asthma 90% Cutis marmorata 90% Edema of the lower limbs 90% Hemiplegia/hemiparesis 90% Hypertensive crisis 90% Hypertrophic cardiomyopathy 90% Migraine 90% Myalgia 90% Nephropathy 90% Orchitis 90% Paresthesia 90% Polyneuropathy 90% Renal insufficiency 90% Skin rash 90% Subcutaneous hemorrhage 90% Vasculitis 90% Weight loss 90% Arrhythmia 50% Behavioral abnormality 50% Coronary artery disease 50% Gangrene 50% Gastrointestinal hemorrhage 50% Gastrointestinal infarctions 50% Leukocytosis 50% Seizures 50% Skin ulcer 50% Urticaria 50% Abnormality of extrapyramidal motor function 7.5% Abnormality of the pericardium 7.5% Abnormality of the retinal vasculature 7.5% Acrocyanosis 7.5% Arterial thrombosis 7.5% Arthritis 7.5% Ascites 7.5% Autoimmunity 7.5% Congestive heart failure 7.5% Encephalitis 7.5% Hemobilia 7.5% Inflammatory abnormality of the eye 7.5% Malabsorption 7.5% Myositis 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Pancreatitis 7.5% Retinal detachment 7.5% Ureteral stenosis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) AL amyloidosis ? | AL amyloidosisis the most common form of amyloidosis, a group of disorders in which an abnormal protein called amyloid builds up in tissues and organs. The signs and symptoms of AL amyloidosis vary among patients because the build up may occur in the tongue, intestines, muscles, joints, nerves, skin, ligaments, heart, liver, spleen, or kidneys. To diagnose AL amyloidosis, healthcare professionals use blood or urine tests to identify signs of amyloid protein and a biopsy to confirm the diagnosis. Treatment may include chemotherapy directed at the abnormal plasma cells, stem cell transplantation, or other treatments based on which symptoms have developed. |
information | Do you have information about Pet Health | Summary : Pets can add fun, companionship and a feeling of safety to your life. Before getting a pet, think carefully about which animal is best for your family. What is each family member looking for in a pet? Who will take care of it? Does anyone have pet allergies? What type of animal suits your lifestyle and budget? Once you own a pet, keep it healthy. Know the signs of medical problems. Take your pet to the veterinarian if you notice: - Loss of appetite - Drinking a lot of water - Gaining or losing a lot of weight quickly - Strange behavior - Being sluggish and tired - Trouble getting up or down - Strange lumps |
inheritance | Is paroxysmal extreme pain disorder inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. |
information | What is (are) Whipple Disease ? | The small intestine is part of the upper gastrointestinal (GI) tract and is a tube-shaped organ between the stomach and large intestine. The upper GI tract also includes the mouth, esophagus, stomach, and duodenum, or the first part of the small intestine.
Most food digestion and nutrient absorption take place in the small intestine. The small intestine measures about 20 feet long and includes the duodenum, jejunum, and ileum. Villitiny, fingerlike protrusionsline the inside of the small intestine. Villi normally let nutrients from food be absorbed through the walls of the small intestine into the bloodstream. |
genetic changes | What are the genetic changes related to Buschke-Ollendorff syndrome ? | Buschke-Ollendorff syndrome results from mutations in the LEMD3 gene. This gene provides instructions for making a protein that helps control signaling through two chemical pathways known as the bone morphogenic protein (BMP) and transforming growth factor-beta (TGF-) pathways. These signaling pathways regulate various cellular processes and are involved in the growth of cells, including new bone cells. Mutations in the LEMD3 gene reduce the amount of functional LEMD3 protein that is produced. A shortage of this protein prevents it from controlling BMP and TGF- signaling effectively, leading to increased signaling through both of these pathways. Studies suggest that the enhanced signaling increases the formation of bone tissue, resulting in areas of overly dense bone. It is unclear how it is related to the development of connective tissue nevi in people with Buschke-Ollendorff syndrome. |
treatment | What are the treatments for Chiari Malformation ? | Medications may ease certain symptoms, such as pain. Surgery is the only treatment available to correct functional disturbances or halt the progression of damage to the central nervous system. More than one surgery may be needed to treat the condition. Some CMs have no noticeable symptoms and do not interfere with the person's activities of daily living. |
susceptibility | Who is at risk for Colorectal Cancer? ? | Key Points
- Avoiding risk factors and increasing protective factors may help prevent cancer. - The following risk factors increase the risk of colorectal cancer: - Age - Family history of colorectal cancer - Personal history - Inherited risk - Alcohol - Cigarette smoking - Obesity - The following protective factors decrease the risk of colorectal cancer: - Physical activity - Aspirin - Combination hormone replacement therapy - Polyp removal - It is not clear if the following affect the risk of colorectal cancer: - Nonsteroidal anti-inflammatory drugs (NSAIDs) other than aspirin - Calcium - Diet - The following factors do not affect the risk of colorectal cancer: - Hormone replacement therapy with estrogen only - Statins - Cancer prevention clinical trials are used to study ways to prevent cancer. - New ways to prevent colorectal cancer are being studied in clinical trials.
Avoiding risk factors and increasing protective factors may help prevent cancer.
Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer.
The following risk factors increase the risk of colorectal cancer:
Age The risk of colorectal cancer increases after age 50. Most cases of colorectal cancer are diagnosed after age 50. Family history of colorectal cancer Having a parent, brother, sister, or child with colorectal cancer doubles a person's risk of colorectal cancer. Personal history Having a personal history of the following conditions increases the risk of colorectal cancer: - Previous colorectal cancer. - High-risk adenomas (colorectal polyps that are 1 centimeter or larger in size or that have cells that look abnormal under a microscope). - Ovarian cancer. - Inflammatory bowel disease (such as ulcerative colitis or Crohn disease). Inherited risk The risk of colorectal cancer is increased when certain gene changes linked to familial adenomatous polyposis (FAP) or hereditary nonpolyposis colon cancer (HNPCC or Lynch Syndrome) are inherited. Alcohol Drinking 3 or more alcoholic beverages per day increases the risk of colorectal cancer. Drinking alcohol is also linked to the risk of forming large colorectal adenomas (benign tumors). Cigarette smoking Cigarette smoking is linked to an increased risk of colorectal cancer and death from colorectal cancer. Smoking cigarettes is also linked to an increased risk of forming colorectal adenomas. Cigarette smokers who have had surgery to remove colorectal adenomas are at an increased risk for the adenomas to recur (come back). Obesity Obesity is linked to an increased risk of colorectal cancer and death from colorectal cancer.
It is not clear if the following affect the risk of colorectal cancer:
Nonsteroidal anti-inflammatory drugs (NSAIDs) other than aspirin It is not known if the use of nonsteroidal anti-inflammatory drugs or NSAIDs (such as sulindac, celecoxib, naproxen, and ibuprofen) lowers the risk of colorectal cancer. Studies have shown that taking the nonsteroidal anti-inflammatory drug celecoxib reduces the risk of colorectal adenomas (benign tumors) coming back after they have been removed. It is not clear if this results in a lower risk of colorectal cancer. Taking sulindac or celecoxib has been shown to reduce the number and size of polyps that form in the colon and rectum of people with familial adenomatous polyposis (FAP). It is not clear if this results in a lower risk of colorectal cancer. The possible harms of NSAIDs include: - Kidney problems. - Bleeding in the stomach, intestines, or brain. - Heart problems such as heart attack and congestive heart failure. Calcium It is not known if taking calcium supplements lowers the risk of colorectal cancer. Diet It is not known if a diet low in fat and meat and high in fiber, fruits, and vegetables lowers the risk of colorectal cancer. Some studies have shown that a diet high in fat, proteins, calories, and meat increases the risk of colorectal cancer, but other studies have not.
The following factors do not affect the risk of colorectal cancer:
Hormone replacement therapy with estrogen only Hormone replacement therapy with estrogen only does not lower the risk of having invasive colorectal cancer or the risk of dying from colorectal cancer. Statins Studies have shown that taking statins (drugs that lower cholesterol) does not increase or decrease the risk of colorectal cancer. |
treatment | What are the treatments for arginase deficiency ? | These resources address the diagnosis or management of arginase deficiency: - Baby's First Test - Gene Review: Gene Review: Arginase Deficiency - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Arginase deficiency - MedlinePlus Encyclopedia: Hereditary urea cycle abnormality These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
information | What is (are) Extragonadal Germ Cell Tumors ? | Key Points
- Extragonadal germ cell tumors form from developing sperm or egg cells that travel from the gonads to other parts of the body. - Age and gender can affect the risk of extragonadal germ cell tumors. - Signs and symptoms of extragonadal germ cell tumors include breathing problems and chest pain. - Imaging and blood tests are used to detect (find) and diagnose extragonadal germ cell tumors. - Certain factors affect prognosis (chance of recovery) and treatment options.
Extragonadal germ cell tumors form from developing sperm or egg cells that travel from the gonads to other parts of the body.
" Extragonadal" means outside of the gonads (sex organs). When cells that are meant to form sperm in the testicles or eggs in the ovaries travel to other parts of the body, they may grow into extragonadal germ cell tumors. These tumors may begin to grow anywhere in the body but usually begin in organs such as the pineal gland in the brain, in the mediastinum (area between the lungs), or in the retroperitoneum (the back wall of the abdomen). Extragonadal germ cell tumors can be benign (noncancer) or malignant (cancer). Benign extragonadal germ cell tumors are called benign teratomas. These are more common than malignant extragonadal germ cell tumors and often are very large. Malignant extragonadal germ cell tumors are divided into two types, nonseminoma and seminoma. Nonseminomas tend to grow and spread more quickly than seminomas. They usually are large and cause signs and symptoms. If untreated, malignant extragonadal germ cell tumors may spread to the lungs, lymph nodes, bones, liver, or other parts of the body. For information about germ cell tumors in the ovaries and testicles, see the following PDQ summaries: - Ovarian Germ Cell Tumors Treatment - Testicular Cancer Treatment |
research | what research (or clinical trials) is being done for Hypopharyngeal Cancer ? | New types of treatment are being tested in clinical trials.
Information about clinical trials is available from the NCI website.
Patients may want to think about taking part in a clinical trial.
For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
Patients can enter clinical trials before, during, or after starting their cancer treatment.
Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. |
symptoms | What are the symptoms of Charcot-Marie-Tooth disease type 2K ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2K? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2K. 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) Areflexia - Autosomal dominant inheritance - Autosomal recessive inheritance - Axonal regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Infantile onset - Kyphoscoliosis - Proximal muscle weakness - Split hand - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
frequency | How many people are affected by Meier-Gorlin syndrome ? | Meier-Gorlin syndrome is a rare condition; however, its prevalence is unknown. |
genetic changes | What are the genetic changes related to glutamate formiminotransferase deficiency ? | Mutations in the FTCD gene cause glutamate formiminotransferase deficiency. The FTCD gene provides instructions for making the enzyme formiminotransferase cyclodeaminase. This enzyme is involved in the last two steps in the breakdown (metabolism) of the amino acid histidine, a building block of most proteins. It also plays a role in producing one of several forms of the vitamin folate, which has many important functions in the body. FTCD gene mutations that cause glutamate formiminotransferase deficiency reduce or eliminate the function of the enzyme. It is unclear how these changes are related to the specific health problems associated with the mild and severe forms of glutamate formiminotransferase deficiency, or why individuals are affected by one form or the other. |
symptoms | What are the symptoms of Hashimoto's encephalitis ? | What are the signs and symptoms of Hashimoto's encephalitis? The symptoms of Hashimoto's encephalitis can vary among affected people. They most often include sudden or subacute onset of confusion with alteration of consciousness. Some affected people have multiple, recurrent episodes of neurological deficits with cognitive dysfunction. Others experience a more progressive course characterized by slowly progressive cognitive impairment with dementia, confusion, hallucinations, or sleepiness. In some cases, rapid deterioration to coma can occur. In addition to confusion and mental status changes, symptoms may include seizures and myoclonus (muscle jerking) or tremor. Psychosis, including visual hallucinations and paranoid delusions, has also been reported. |
stages | What are the stages of Testicular Cancer ? | Key Points
- After testicular cancer has been diagnosed, tests are done to find out if cancer cells have spread within the testicles or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for testicular cancer: - Stage 0 (Testicular Intraepithelial Neoplasia) - Stage I - Stage II - Stage III
After testicular cancer has been diagnosed, tests are done to find out if cancer cells have spread within the testicles or to other parts of the body.
The process used to find out if cancer has spread within the testicles or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Abdominal lymph node dissection : A surgical procedure in which lymph nodes in the abdomen are removed and a sample of tissue is checked under a microscope for signs of cancer. This procedure is also called lymphadenectomy. For patients with nonseminoma, removing the lymph nodes may help stop the spread of disease. Cancer cells in the lymph nodes of seminoma patients can be treated with radiation therapy. - Serum tumor marker test : A procedure in which a sample of blood is examined to measure the amounts of certain substances released into the blood by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the blood. These are called tumor markers. The following 3 tumor markers are used in staging testicular cancer: - Alpha-fetoprotein (AFP) - Beta-human chorionic gonadotropin (-hCG). - Lactate dehydrogenase (LDH). Tumor marker levels are measured again, after inguinal orchiectomy and biopsy, in order to determine the stage of the cancer. This helps to show if all of the cancer has been removed or if more treatment is needed. Tumor marker levels are also measured during follow-up as a way of checking if the cancer has come back.
There are three ways that cancer spreads in the body.
Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body.
Cancer may spread from where it began to other parts of the body.
When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if testicular cancer spreads to the lung, the cancer cells in the lung are actually testicular cancer cells. The disease is metastatic testicular cancer, not lung cancer.
The following stages are used for testicular cancer:
Stage 0 (Testicular Intraepithelial Neoplasia) In stage 0, abnormal cells are found in the tiny tubules where the sperm cells begin to develop. These abnormal cells may become cancer and spread into nearby normal tissue. All tumor marker levels are normal. Stage 0 is also called testicular intraepithelial neoplasia and testicular intratubular germ cell neoplasia. Stage I In stage I, cancer has formed. Stage I is divided into stage IA, stage IB, and stage IS and is determined after an inguinal orchiectomy is done. - In stage IA, cancer is in the testicle and epididymis and may have spread to the inner layer of the membrane surrounding the testicle. All tumor marker levels are normal. - In stage IB, cancer: - is in the testicle and the epididymis and has spread to the blood vessels or lymph vessels in the testicle; or - has spread to the outer layer of the membrane surrounding the testicle; or - is in the spermatic cord or the scrotum and may be in the blood vessels or lymph vessels of the testicle. All tumor marker levels are normal. - In stage IS, cancer is found anywhere within the testicle, spermatic cord, or the scrotum and either: - all tumor marker levels are slightly above normal; or - one or more tumor marker levels are moderately above normal or high. Stage II Stage II is divided into stage IIA, stage IIB, and stage IIC and is determined after an inguinal orchiectomy is done. - In stage IIA, cancer: - is anywhere within the testicle, spermatic cord, or scrotum; and - has spread to up to 5 lymph nodes in the abdomen, none larger than 2 centimeters. All tumor marker levels are normal or slightly above normal. - In stage IIB, cancer is anywhere within the testicle, spermatic cord, or scrotum; and either: - has spread to up to 5 lymph nodes in the abdomen; at least one of the lymph nodes is larger than 2 centimeters, but none are larger than 5 centimeters; or - has spread to more than 5 lymph nodes; the lymph nodes are not larger than 5 centimeters. All tumor marker levels are normal or slightly above normal. - In stage IIC, cancer: - is anywhere within the testicle, spermatic cord, or scrotum; and - has spread to a lymph node in the abdomen that is larger than 5 centimeters. All tumor marker levels are normal or slightly above normal. Stage III Stage III is divided into stage IIIA, stage IIIB, and stage IIIC and is determined after an inguinal orchiectomy is done. - In stage IIIA, cancer: - is anywhere within the testicle, spermatic cord, or scrotum; and - may have spread to one or more lymph nodes in the abdomen; and - has spread to distant lymph nodes or to the lungs. Tumor marker levels may range from normal to slightly above normal. - In stage IIIB, cancer: - is anywhere within the testicle, spermatic cord, or scrotum; and - may have spread to one or more lymph nodes in the abdomen, to distant lymph nodes, or to the lungs. The level of one or more tumor markers is moderately above normal. - In stage IIIC, cancer: - is anywhere within the testicle, spermatic cord, or scrotum; and - may have spread to one or more lymph nodes in the abdomen, to distant lymph nodes, or to the lungs. The level of one or more tumor markers is high. or Cancer: - is anywhere within the testicle, spermatic cord, or scrotum; and - may have spread to one or more lymph nodes in the abdomen; and - has not spread to distant lymph nodes or the lung but has spread to other parts of the body. Tumor marker levels may range from normal to high. |
treatment | What are the treatments for cold-induced sweating syndrome ? | These resources address the diagnosis or management of cold-induced sweating syndrome: - Gene Review: Gene Review: Cold-Induced Sweating Syndrome including Crisponi Syndrome - Genetic Testing Registry: Cold-induced sweating syndrome 1 - Genetic Testing Registry: Cold-induced sweating syndrome 2 - Merck Manual Consumer Version: Excessive Sweating These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
information | What is (are) Fanconi Anemia ? | Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare, inherited blood disorder that leads to bone marrow failure. The disorder also is called Fanconis anemia.
FA prevents your bone marrow from making enough new blood cells for your body to work normally. FA also can cause your bone marrow to make many faulty blood cells. This can lead to serious health problems, such as leukemia (a type of blood cancer).
Although FA is a blood disorder, it also can affect many of your body's organs, tissues, and systems. Children who inherit FA are at higher risk of being born with birth defects. FA also increases the risk of some cancers and other serious health problems.
FA is different from Fanconi syndrome. Fanconi syndrome affects the kidneys. It's a rare and serious condition that mostly affects children.
Children who have Fanconi syndrome pass large amounts of key nutrients and chemicals through their urine. These children may have serious health and developmental problems.
Bone Marrow and Blood
Bone marrow is the spongy tissue inside the large bones of your body. Healthy bone marrow contains stem cells that develop into the three types of blood cells that the body needs:
Red blood cells, which carry oxygen to all parts of your body. Red blood cells also remove carbon dioxide (a waste product) from your body's cells and carry it to the lungs to be exhaled.
White blood cells, which help fight infections.
Platelets (PLATE-lets), which help your blood clot.
It's normal for blood cells to die. The lifespan of red blood cells is about 120 days. White blood cells live less than 1 day. Platelets live about 6 days. As a result, your bone marrow must constantly make new blood cells.
If your bone marrow can't make enough new blood cells to replace the ones that die, serious health problems can occur.
Fanconi Anemia and Your Body
FA is one of many types of anemia. The term "anemia" usually refers to a condition in which the blood has a lower than normal number of red blood cells.
FA is a type of aplastic anemia. In aplastic anemia, the bone marrow stops making or doesn't make enough of all three types of blood cells. Low levels of the three types of blood cells can harm many of the body's organs, tissues, and systems.
With too few red blood cells, your body's tissues won't get enough oxygen to work well. With too few white blood cells, your body may have problems fighting infections. This can make you sick more often and make infections worse. With too few platelets, your blood cant clot normally. As a result, you may have bleeding problems.
Outlook
People who have FA have a greater risk than other people for some cancers. About 10percent of people who have FA develop leukemia.
People who have FA and survive to adulthood are much more likely than others to develop cancerous solid tumors.
The risk of solid tumors increases with age in people who have FA. These tumors can develop in the mouth, tongue, throat, or esophagus (eh-SOF-ah-gus). (The esophagus is the passage leading from the mouth to the stomach.)
Women who have FA are at much greater risk than other women of developing tumors in the reproductive organs.
FA is an unpredictable disease. The average lifespan for people who have FA is between 20 and 30 years. The most common causes of death related to FA are bone marrow failure, leukemia, and solid tumors.
Advances in care and treatment have improved the chances of surviving longer with FA. Blood and marrow stem cell transplant is the major advance in treatment. However, even with this treatment, the risk of some cancers is greater in people who have FA. |
information | What is (are) Coronavirus Infections ? | Coronaviruses are common viruses that most people get some time in their life. They are common throughout the world, and they can infect people and animals. Several different coronaviruses can infect people and make them sick. They usually cause mild to moderate upper-respiratory illness. But, some coronaviruses can cause severe illness. Coronaviruses probably spread through the air by coughing or sneezing, or by close personal contact. If you get infected, symptoms may include - Runny nose - Cough - Sore throat - Fever You may be able to reduce your risk of infection by washing your hands often with soap and water, not touching your eyes, nose, or mouth, and avoiding close contact with people who are sick. There is no vaccine to prevent coronavirus infection. There are no specific treatments. You can relieve symptoms with pain and fever medicines and rest. Centers for Disease Control and Prevention |
inheritance | Is gastrointestinal stromal tumor inherited ? | Most cases of GIST are not inherited. Sporadic GIST is associated with somatic mutations, which are genetic changes that occur only in the tumor cells and occur during a person's lifetime. In some cases of familial GIST, including those associated with mutations in the KIT and PDGFRA genes, mutations are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing tumors. When familial GIST is associated with mutations in other genes, it can have an autosomal recessive pattern of inheritance, which means alterations in both copies of the gene in each cell increase a person's chance of developing tumors. |
information | What is (are) Preauricular sinus ? | Preauricular sinus is a common birth defect that may be seen during a routine exam of a newborn. It generally appears as a tiny skin-lined hole or pit, often just in front of the upper ear where the cartilage of the ear rim meets the face. It may occur on one side (unilateral) or both sides (bilateral) of the ear. Affected people usually do not have any additional symptoms unless it becomes infected. Preauricular sinus may occur sporadically during the development of an embryo or it may be inherited in an autosomal dominant manner with reduced penetrance. Less often, it occurs as a feature of another condition or syndrome. Treatment may include antibiotics for infection and/or surgery to remove the sinus. |
genetic changes | What are the genetic changes related to phosphoglycerate mutase deficiency ? | Phosphoglycerate mutase deficiency is caused by mutations in the PGAM2 gene. This gene provides instructions for making an enzyme called phosphoglycerate mutase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy. The version of phosphoglycerate mutase produced from the PGAM2 gene is found primarily in skeletal muscle cells. Mutations in the PGAM2 gene greatly reduce the activity of phosphoglycerate mutase, which disrupts energy production in these cells. This defect underlies the muscle cramping and myoglobinuria that occur after strenuous exercise in affected individuals. |
treatment | What are the treatments for Dry Mouth ? | Certain cancer treatments can affect the salivary glands. Head and neck radiation therapy can cause the glands to produce little or no saliva. Chemotherapy may cause the salivary glands to produce thicker saliva, which makes the mouth feel dry and sticky. |
information | What is (are) Hairy Cell Leukemia ? | Key Points
- Hairy cell leukemia is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). - Leukemia may affect red blood cells, white blood cells, and platelets. - Gender and age may affect the risk of hairy cell leukemia. - Signs and symptoms of hairy cell leukemia include infections, tiredness, and pain below the ribs. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose hairy cell leukemia. - Certain factors affect treatment options and prognosis (chance of recovery).
Hairy cell leukemia is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell).
Hairy cell leukemia is a cancer of the blood and bone marrow. This rare type of leukemia gets worse slowly or does not get worse at all. The disease is called hairy cell leukemia because the leukemia cells look "hairy" when viewed under a microscope.
Leukemia may affect red blood cells, white blood cells, and platelets.
Normally, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A myeloid stem cell becomes one of three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - White blood cells that fight infection and disease. - Platelets that form blood clots to stop bleeding. A lymphoid stem cell becomes a lymphoblast cell and then into one of three types of lymphocytes (white blood cells): - B lymphocytes that make antibodies to help fight infection. - T lymphocytes that help B lymphocytes make antibodies to help fight infection. - Natural killer cells that attack cancer cells and viruses. In hairy cell leukemia, too many blood stem cells become lymphocytes. These lymphocytes are abnormal and do not become healthy white blood cells. They are also called leukemia cells. The leukemia cells can build up in the blood and bone marrow so there is less room for healthy white blood cells, red blood cells, and platelets. This may cause infection, anemia, and easy bleeding. Some of the leukemia cells may collect in the spleen and cause it to swell. This summary is about hairy cell leukemia. See the following PDQ summaries for information about other types of leukemia: - Adult Acute Lymphoblastic Leukemia Treatment. - Childhood Acute Lymphoblastic Leukemia Treatment. - Chronic Lymphocytic Leukemia Treatment. - Adult Acute Myeloid Leukemia Treatment. - Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment. - Chronic Myelogenous Leukemia Treatment. |
symptoms | What are the symptoms of Cockayne syndrome type II ? | What are the signs and symptoms of Cockayne syndrome type II? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome type II. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal auditory evoked potentials - Abnormal peripheral myelination - Abnormality of skin pigmentation - Abnormality of the hair - Abnormality of the pinna - Abnormality of visual evoked potentials - Anhidrosis - Arrhythmia - Ataxia - Atypical scarring of skin - Autosomal recessive inheritance - Basal ganglia calcification - Carious teeth - Cataract - Cerebellar calcifications - Cerebral atrophy - Cryptorchidism - Cutaneous photosensitivity - Decreased lacrimation - Decreased nerve conduction velocity - Delayed eruption of primary teeth - Dental malocclusion - Dermal atrophy - Dry hair - Dry skin - Hepatomegaly - Hypermetropia - Hypertension - Hypoplasia of teeth - Hypoplasia of the iris - Hypoplastic iliac wing - Hypoplastic pelvis - Increased cellular sensitivity to UV light - Intellectual disability - Intrauterine growth retardation - Ivory epiphyses of the phalanges of the hand - Kyphosis - Limitation of joint mobility - Loss of facial adipose tissue - Mandibular prognathia - Microcephaly - Microcornea - Micropenis - Microphthalmia - Muscle weakness - Normal pressure hydrocephalus - Nystagmus - Opacification of the corneal stroma - Optic atrophy - Osteoporosis - Patchy demyelination of subcortical white matter - Peripheral dysmyelination - Pigmentary retinopathy - Polyneuropathy - Postnatal growth retardation - Progeroid facial appearance - Proteinuria - Reduced subcutaneous adipose tissue - Renal insufficiency - Seizures - Sensorineural hearing impairment - Severe failure to thrive - Severe short stature - Slender nose - Small for gestational age - Sparse hair - Splenomegaly - Square pelvis bone - Strabismus - Subcortical white matter calcifications - Thickened calvaria - Tremor - 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. |
exams and tests | How to diagnose Parasites - Echinococcosis ? | The presence of a cyst-like mass in a person with a history of exposure to sheepdogs in an area where E. granulosus is endemic suggests a diagnosis of cystic echinococcosis. Imaging techniques, such as CT scans, ultrasonography, and MRIs, are used to detect cysts. After a cyst has been detected, serologic tests may be used to confirm the diagnosis.
Alveolar echinococcosis is typically found in older people. Imaging techniques such as CT scans are used to visually confirm the parasitic vesicles and cyst-like structures and serologic tests can confirm the parasitic infection. |
symptoms | What are the symptoms of Brody myopathy ? | What are the signs and symptoms of Brody myopathy? Symptoms of Brody disease typically begin in childhood. Children with this condition may have a hard time keeping up with their peers in physical activities. They have a difficult time relaxing muscles, first in their arms and legs, but then in their face and trunk. They may also have difficulty relaxing their eyelids and grip. These muscle symptoms worsen with exercise and exposure to cold weather. In people with Brody disease, the term pseudomyotonia is used to describe these muscle symptoms. The term myotonia refers to muscle stiffness or an inability to relax the muscles and can be evidenced by abnormal electromyography (EMG) results. In Brody disease the EMG results are normal, even though the person show signs of the muscle stiffness. Because of the normal EMG results, the word pseudo-myotonia is used. In addition to the pseudomyotonia, people with Brody disease sometimes develop myoglobinuria. Myoglobinuria is the abnormal breakdown of the muscle protein, myoglobin. Click here to learn more about testing for myoglobinuria. People with Brody disease do not tend to have percussion myotonia. A doctor may test for percussion myotonia by mildly tapping on a muscle and watching how the muscle responds. Percussion myotonia is a symptom in other muscle disorders. The Human Phenotype Ontology provides the following list of signs and symptoms for Brody myopathy. 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 - Muscle cramps - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Intellectual disability-developmental delay-contractures syndrome ? | What are the signs and symptoms of Intellectual disability-developmental delay-contractures syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability-developmental delay-contractures syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Limitation of joint mobility 90% Neurological speech impairment 90% Ophthalmoparesis 90% Skeletal muscle atrophy 90% Kyphosis 7.5% Ptosis 7.5% Scoliosis 7.5% Strabismus 7.5% Oculomotor apraxia 5% Apnea - Apraxia - Areflexia - Broad alveolar ridges - Camptodactyly - Cerebral atrophy - Congenital foot contractures - Congenital onset - Decreased fetal movement - Delayed myelination - Delayed speech and language development - Distal amyotrophy - Drooling - Dystonia - Facial palsy - Feeding difficulties - High anterior hairline - High palate - Hip dislocation - Hyperlordosis - Intellectual disability, mild - Long philtrum - Low-set ears - Muscular hypotonia - Narrow chest - Neonatal respiratory distress - Proximal placement of thumb - Retrognathia - Seizures - Short neck - Short stature - Smooth philtrum - Spasticity - Talipes equinovarus - Upslanted palpebral fissure - U-Shaped upper lip vermilion - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Retinoschisis autosomal dominant ? | What are the signs and symptoms of Retinoschisis autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinoschisis autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of macular pigmentation - Autosomal dominant inheritance - Peripheral retinal degeneration - Retinoschisis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
treatment | What are the treatments for Ewing Sarcoma ? | Key Points
- There are different types of treatment for children with Ewing sarcoma. - Children with Ewing sarcoma should have their treatment planned by a team of health care providers who are experts in treating cancer in children. - Treatment for Ewing sarcoma may cause side effects. - Five types of standard treatment are used: - Chemotherapy - Radiation therapy - Surgery - Targeted therapy - High-dose chemotherapy with stem cell rescue - New types of treatment are being tested in clinical trials. - Chimeric antigen receptor (CAR) T-cell therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed.
There are different types of treatment for children with Ewing sarcoma.
Different types of treatments are available for children with Ewing sarcoma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because cancer in children is rare, taking part in a clinical trial should be considered. Some clinical trials are open only to patients who have not started treatment.
Children with Ewing sarcoma should have their treatment planned by a team of health care providers who are experts in treating cancer in children.
Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other health care providers who are experts in treating children with Ewing sarcoma and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Surgical oncologist or orthopedic oncologist. - Radiation oncologist. - Pediatric nurse specialist. - Social worker. - Rehabilitation specialist. - Psychologist.
Treatment for Ewing sarcoma may cause side effects.
For information about side effects that begin during treatment for cancer, see our Side Effects page. Side effects from cancer treatment that begin after treatment and continue for months or years are called late effects. Late effects of cancer treatment may include the following: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Patients treated for Ewing sarcoma have an increased risk of acute myeloid leukemia and myelodysplastic syndrome. There is also an increased risk of sarcoma in the area treated with radiation therapy. Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information.)
Five types of standard treatment are used:
Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is treatment using more than one anticancer drug. Systemic chemotherapy is part of the treatment for all patients with Ewing tumors. It is often the first treatment given and lasts for about 6 to 12 months. Chemotherapy is often given to shrink the tumor before surgery or radiation therapy and to kill any tumor cells that may have spread to other parts of the body. See Drugs Approved for Soft Tissue Sarcoma for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. External radiation therapy is used to treat Ewing sarcoma. Radiation therapy is used when the tumor cannot be removed by surgery or when surgery to remove the tumor will affect important body functions or the way the child will look. It may be used to make the tumor smaller and decrease the amount of tissue that needs to be removed during surgery. It may also be used to treat any tumor that remains after surgery and tumors that have spread to other parts of the body. Surgery Surgery is usually done to remove cancer that is left after chemotherapy or radiation therapy. When possible, the whole tumor is removed by surgery. Tissue and bone that are removed may be replaced with a graft, which uses tissue and bone taken from another part of the patient's body or a donor. Sometimes an implant, such as artificial bone, is used. Even if the doctor removes all of the cancer that can be seen at the time of the operation, chemotherapy or radiation therapy may be given after surgery to kill any cancer cells that are left. Chemotherapy or radiation therapy given after surgery to lower the risk that the cancer will come back is called adjuvant therapy. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Monoclonal antibody therapy is a type of targeted therapy used in the treatment of recurrent Ewing sarcoma. It is being studied for the treatment of metastatic Ewing sarcoma. Monoclonal antibodies are made in the laboratory from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. New types of targeted therapy are being studied. - Kinase inhibitor therapy is another type of targeted therapy. Kinase inhibitors are drugs that block a protein needed for cancer cells to divide. They are being studied in the treatment of recurrent Ewing sarcoma. - PARP inhibitor therapy is another type of targeted therapy. PARP inhibitors are drugs that block DNA repair and may cause cancer cells to die. They are being studied in the treatment of recurrent Ewing sarcoma. High-dose chemotherapy with stem cell rescue High-dose chemotherapy with stem cell rescue is a way of giving high doses of chemotherapy to treat Ewing sarcoma and then replacing blood -forming cells destroyed by cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient and are frozen and stored. After chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Chemotherapy with stem cell rescue is used to treat recurrent Ewing sarcoma.
New types of treatment are being tested in clinical trials.
This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chimeric antigen receptor (CAR) T-cell therapy CAR T-cell therapy is a type of immunotherapy that changes the patient's T cells (a type of immune system cell) so they will attack certain proteins on the surface of cancer cells. T cells are taken from the patient and special receptors are added to their surface in the laboratory. The changed cells are called chimeric antigen receptor (CAR) T cells. The CAR T cells are grown in the laboratory and given to the patient by infusion. The CAR T cells multiply in the patient's blood and attack cancer cells. CAR T-cell therapy is being studied in the treatment of Ewing sarcoma that has recurred.
Patients may want to think about taking part in a clinical trial.
For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
Patients can enter clinical trials before, during, or after starting their cancer treatment.
Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.
Follow-up tests may be needed.
Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.
Treatment Options for Ewing Sarcoma
Localized Ewing Sarcoma
Standard treatments for localized Ewing sarcoma include: - Chemotherapy. - Surgery and/or radiation therapy. These treatments and the order they are given depend on the following: - Where in the body the tumor started. - How large the tumor is when the cancer is diagnosed. - Whether the tumor was completely removed by surgery. - The child's age and general health. - Whether the treatment will affect important body functions or the way the child will look. Treatments being studied for localized Ewing sarcoma include: - High-dose chemotherapy with stem cell rescue. Check the list of NCI-supported cancer clinical trials that are now accepting patients with localized Ewing sarcoma/peripheral primitive neuroectodermal tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.
Metastatic Ewing Sarcoma
Standard treatments for metastatic Ewing sarcoma include: - Chemotherapy. - Surgery. - Radiation therapy. These treatments and the order they are given depend on the following: - Where in the body the tumor started. - Where the tumor has spread. - How large the tumor is. - Whether the treatment will affect important body functions or the way the child will look. - The child's age and general health. Treatments being studied for metastatic Ewing sarcoma include the following: - Combination chemotherapy with or without targeted therapy. Radiation therapy is given to areas of bone where cancer has spread. - High-dose chemotherapy with stem cell rescue. Check the list of NCI-supported cancer clinical trials that are now accepting patients with metastatic Ewing sarcoma/peripheral primitive neuroectodermal tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.
Recurrent Ewing Sarcoma
There is no standard treatment for recurrent Ewing sarcoma but treatment options may include the following: - Combination chemotherapy. - Radiation therapy to bone tumors, as palliative therapy to relieve symptoms and improve the quality of life. - Radiation therapy that may be followed by surgery to remove tumors that have spread to the lungs. - High-dose chemotherapy with stem cell rescue. - Targeted therapy with a monoclonal antibody. These treatments and the order they are given depend on the following: - Where in the body the tumor came back. - The initial treatment given. Treatment options being studied for recurrent Ewing sarcoma include the following: - Targeted therapy with a monoclonal antibody. - Chimeric antigen receptor (CAR) T-cell therapy. - Targeted therapy with a PARP inhibitor and chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent Ewing sarcoma/peripheral primitive neuroectodermal tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. |
exams and tests | How to diagnose Lynch syndrome ? | How is Lynch syndrome diagnosed? The diagnosis of Lynch syndrome can be made on the basis of the Amsterdam clinical criteria or on the basis of molecular genetic testing for germline mutations in one of several mismatch repair (MMR) genes. To read detailed diagnostic strategies, click here. |
information | Do you have information about Healthy Living | Summary : Many factors affect your health. Some you cannot control, such as your genetic makeup or your age. But you can make changes to your lifestyle. By taking steps toward healthy living, you can help reduce your risk of heart disease, cancer, stroke and other serious diseases: - Get the screening tests you need - Maintain a healthy weight - Eat a variety of healthy foods, and limit calories and saturated fat - Be physically active - Control your blood pressure and cholesterol - Don't smoke - Protect yourself from too much sun - Drink alcohol in moderation, or don't drink at all Agency for Healthcare Research and Quality |
susceptibility | Who is at risk for Hairy Cell Leukemia? ? | Gender and age may affect the risk of hairy cell leukemia. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. The cause of hairy cell leukemia is unknown. It occurs more often in older men. |
inheritance | Is megalencephalic leukoencephalopathy with subcortical cysts inherited ? | All cases of megalencephalic leukoencephalopathy with subcortical cysts caused by mutations in the MLC1 gene (type 1) and some cases caused by mutations in the HEPACAM gene (type 2A) are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Megalencephalic leukoencephalopathy with subcortical cysts type 2B is inherited in an autosomal dominant pattern, which means one copy of the altered HEPACAM gene in each cell is sufficient to cause the disorder. Most cases of type 2B result from new (de novo) mutations in the HEPACAM gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family. |
symptoms | What are the symptoms of Florid papillomatosis of the nipple ? | What are the signs and symptoms of Florid papillomatosis of the nipple? The Human Phenotype Ontology provides the following list of signs and symptoms for Florid papillomatosis of the nipple. 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 skin - 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. |
genetic changes | What are the genetic changes related to critical congenital heart disease ? | In most cases, the cause of CCHD is unknown. A variety of genetic and environmental factors likely contribute to this complex condition. Changes in single genes have been associated with CCHD. Studies suggest that these genes are involved in normal heart development before birth. Most of the identified mutations reduce the amount or function of the protein that is produced from a specific gene, which likely impairs the normal formation of structures in the heart. Studies have also suggested that having more or fewer copies of particular genes compared with other people, a phenomenon known as copy number variation, may play a role in CCHD. However, it is unclear whether genes affected by copy number variation are involved in heart development and how having missing or extra copies of those genes could lead to heart defects. Researchers believe that single-gene mutations and copy number variation account for a relatively small percentage of all CCHD. CCHD is usually isolated, which means it occurs alone (without signs and symptoms affecting other parts of the body). However, the heart defects associated with CCHD can also occur as part of genetic syndromes that have additional features. Some of these genetic conditions, such as Down syndrome, Turner syndrome, and 22q11.2 deletion syndrome, result from changes in the number or structure of particular chromosomes. Other conditions, including Noonan syndrome and Alagille syndrome, result from mutations in single genes. Environmental factors may also contribute to the development of CCHD. Potential risk factors that have been studied include exposure to certain chemicals or drugs before birth, viral infections (such as rubella and influenza) that occur during pregnancy, and other maternal illnesses including diabetes and phenylketonuria. Although researchers are examining risk factors that may be associated with this complex condition, many of these factors remain unknown. |
information | What is (are) Lesch Nyhan syndrome ? | Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. Nervous system and behavioral disturbances also occur, such as involuntary muscle movements and self injury (including biting and head banging). People with Lesch Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Lesch Nyhan syndrome is caused by changes (mutations) in the HPRT1 gene and is inherited in an X-linked recessive manner. Treatment is symptomatic and supportive. Affected people often do not survive past the first or second decade of life due to renal failure. |
treatment | What are the treatments for desmosterolosis ? | These resources address the diagnosis or management of desmosterolosis: - Genetic Testing Registry: Desmosterolosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
information | What is (are) Vascular Diseases ? | The vascular system is the body's network of blood vessels. It includes the arteries, veins and capillaries that carry blood to and from the heart. Problems of the vascular system are common and can be serious. Arteries can become thick and stiff, a problem called atherosclerosis. Blood clots can clog vessels and block blood flow to the heart or brain. Weakened blood vessels can burst, causing bleeding inside the body. You are more likely to have vascular disease as you get older. Other factors that make vascular disease more likely include - Family history of vascular or heart diseases - Pregnancy - Illness or injury - Long periods of sitting or standing still - Any condition that affects the heart and blood vessels, such as diabetes or high cholesterol - Smoking - Obesity Losing weight, eating healthy foods, being active and not smoking can help vascular disease. Other treatments include medicines and surgery. |
information | What is (are) High Blood Pressure ? | Only a small amount of the salt that we eat comes from the salt shaker, and only small amounts occur naturally in food. Most of the salt that we eat comes from processed foods -- for example, canned or processed meat, baked goods, and certain cereals, and foods with soy sauce, seasoned salts, monosodium glutamate (MSG), and baking soda. Food from fast food restaurants, frozen foods, and canned foods also tend to be higher in sodium. |
symptoms | What are the symptoms of Potato nose ? | What are the signs and symptoms of Potato nose? The Human Phenotype Ontology provides the following list of signs and symptoms for Potato nose. 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 nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Creating a Family Health History ? | Here are important questions to ask your blood relatives. - What is your age or date of birth? - Do you have any chronic conditions, such as heart disease, diabetes, asthma, or high blood pressure? - Have you had any other serious illnesses, such as cancer or stroke? (If you know of any specific diseases or illnesses in your family, ask about them, too.) - How old were you when you developed these illnesses? - Have you or your partner had any problems with pregnancies or childbirth? What is your age or date of birth? Do you have any chronic conditions, such as heart disease, diabetes, asthma, or high blood pressure? Have you had any other serious illnesses, such as cancer or stroke? (If you know of any specific diseases or illnesses in your family, ask about them, too.) How old were you when you developed these illnesses? Have you or your partner had any problems with pregnancies or childbirth? Other questions to ask your blood relatives include - What countries did our family come from? (Knowing this can help because some heritable diseases occur more often in certain population groups. Also, different diets and living environments can influence the risks of developing certain diseases.) - Has anyone in the family had birth defects, learning problems, or developmental disabilities, such as Down's syndrome? - What illnesses did our late parents or grandparents have? How old were they when they died? What caused their deaths? What countries did our family come from? (Knowing this can help because some heritable diseases occur more often in certain population groups. Also, different diets and living environments can influence the risks of developing certain diseases.) Has anyone in the family had birth defects, learning problems, or developmental disabilities, such as Down's syndrome? What illnesses did our late parents or grandparents have? How old were they when they died? What caused their deaths? |
symptoms | What are the symptoms of Polycythemia Vera ? | Symptoms of polycythemia vera include headaches and a feeling of fullness below the ribs on the left side. Polycythemia vera often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may occur as the number of blood cells increases. Other conditions may cause the same signs and symptoms. Check with your doctor if you have any of the following: - A feeling of pressure or fullness below the ribs on the left side. - Headaches. - Double vision or seeing dark or blind spots that come and go. - Itching all over the body, especially after being in warm or hot water. - Reddened face that looks like a blush or sunburn. - Weakness. - Dizziness. - Weight loss for no known reason. |
causes | What causes Progeria ? | What genes are related to Hutchinson-Gilford progeria syndrome? Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome. |
symptoms | What are the symptoms of Macrothrombocytopenia progressive deafness ? | What are the signs and symptoms of Macrothrombocytopenia progressive deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrothrombocytopenia progressive deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Abnormality of the eye - Abnormality of the urinary system - Autosomal dominant inheritance - Bruising susceptibility - Giant platelets - Progressive sensorineural hearing impairment - Prolonged bleeding time - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Gardner syndrome ? | What are the signs and symptoms of Gardner syndrome? The signs and symptoms of Gardner syndrome vary from person to person. It is a form of familial adenomatous polyposis (FAP), which is characterized primarily by hundreds to thousands of noncancerous (benign) polyps in the colon that begin to appear at an average age of 16 years. Unless the colon is removed, these polyps will become malignant (cancerous), leading to early-onset colorectal cancer at an average age of 39 years. Other features of Gardner syndrome may include: Dental abnormalities Fundic gland or adenomatous polyps of the stomach Adenomatous polyps of the small intestines Osteomas (benign bone growths) Congenital hypertrophy of the retinal pigment epithelium (a flat, pigmented spot within the outer layer of the retina) Benign skin abnormalities such as epidermoid cysts, fibromas (a benign tumor of the connective tissue), and lipomas Adrenal masses Desmoid tumors Other types of cancer (small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland) The Human Phenotype Ontology provides the following list of signs and symptoms for Gardner 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) Adenomatous colonic polyposis 90% Intestinal polyposis 90% Duodenal polyposis 50% Neoplasm of the colon 50% Colon cancer 33% Multiple gastric polyps 33% Adrenocortical adenoma 13% Carious teeth 7.5% Congenital hypertrophy of retinal pigment epithelium 7.5% Delayed eruption of teeth 7.5% Epidermoid cyst 7.5% Fibroadenoma of the breast 7.5% Increased number of teeth 7.5% Irregular hyperpigmentation 7.5% Multiple lipomas 7.5% Neoplasm of the nervous system 7.5% Odontogenic neoplasm 7.5% Osteoma 7.5% Sarcoma 7.5% Unerupted tooth 7.5% Hepatoblastoma 1.6% Medulloblastoma 1% Duodenal adenocarcinoma % Papillary thyroid carcinoma % Adrenocortical carcinoma - Astrocytoma - Autosomal dominant inheritance - Hyperpigmentation of the skin - Keloids - Odontoma - Small intestine carcinoid - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
treatment | What are the treatments for Asbestos-Related Lung Diseases ? | No treatments can reverse the effects of asbestos on your lungs. However, treatments may help relieve symptoms and prevent or delay complications. If you have lung cancer, treatments may help slow the progress of the disease.
Treatments for Pleural Plaque, Pleural Effusion, and Asbestosis
If you have pleural plaque, pleural effusion, or asbestosis and you smoke, your doctor will advise you to quit smoking. People who have these conditions can lower their risk for lung cancer if they quit smoking.
Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke.
If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking.
For more information about how to quit smoking, go to the Diseases and Conditions Index Smoking and Your Heart article and the National Heart, Lung, and Blood Institutes Your Guide to a Healthy Heart. Although these resources focus on heart health, they include general information about how to quit smoking.
If you have trouble breathing or shortness of breath and a very low blood oxygen level, your doctor may recommend oxygen therapy. For this treatment, you're given oxygen through nasal prongs or a mask. Oxygen therapy may be done at home or in a hospital or other health facility.
If excess fluid around the lungs (pleural effusion) is making it hard for you to breathe, thoracentesis (THOR-ah-sen-TE-sis) may help. For this procedure, your doctor will insert a thin needle or plastic tube into the space between your lungs and chest wall. He or she will then draw out the excess fluid.
Treatments for Lung Cancer and Mesothelioma
If you have lung cancer or mesothelioma, your treatment may include surgery, chemotherapy, radiation therapy, and/or targeted therapy. (Targeted therapy uses medicines or other substances to find and attack specific lung cancer cells without harming normal cells.)
Your doctor may prescribe medicines to prevent fluid buildup, ease pain, or relieve other complications of your disease.
If you have lung cancer or mesothelioma, talk with your doctor about whether you should get flu and pneumonia vaccines. These vaccines can help lower your risk for lung infections. |
treatment | What are the treatments for Ohtahara Syndrome ? | Antiepileptic drugs are used to control seizures, but are unfortunately not usually very effective for this disorder. Corticosteroids are occasionally helpful. In cases where there is a focal brain lesion (damage contained to one area of the brain) surgery may be beneficial. Other therapies are symptomatic and supportive. |
information | What is (are) Central Pain Syndrome ? | Central pain syndrome is a neurological condition caused by damage to or dysfunction of the central nervous system (CNS), which includes the brain, brainstem, and spinal cord. This syndrome can be caused by stroke, multiple sclerosis, tumors, epilepsy, brain or spinal cord trauma, or Parkinson's disease. The character of the pain associated with this syndrome differs widely among individuals partly because of the variety of potential causes. Central pain syndrome may affect a large portion of the body or may be more restricted to specific areas, such as hands or feet. The extent of pain is usually related to the cause of the CNS injury or damage. Pain is typically constant, may be moderate to severe in intensity, and is often made worse by touch, movement, emotions, and temperature changes, usually cold temperatures. Individuals experience one or more types of pain sensations, the most prominent being burning. Mingled with the burning may be sensations of "pins and needles;" pressing, lacerating, or aching pain; and brief, intolerable bursts of sharp pain similar to the pain caused by a dental probe on an exposed nerve. Individuals may have numbness in the areas affected by the pain. The burning and loss of touch sensations are usually most severe on the distant parts of the body, such as the feet or hands. Central pain syndrome often begins shortly after the causative injury or damage, but may be delayed by months or even years, especially if it is related to post-stroke pain. |
inheritance | Is Gillespie syndrome inherited ? | In some cases, including those in which Gillespie syndrome is caused by PAX6 gene mutations, the condition occurs in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected individuals inherit 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. Gillespie syndrome can also be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The gene or genes involved in these cases are unknown. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
causes | What causes Ollier disease ? | What causes Ollier disease? The exact cause of Ollier disease is not known. It is usually a sporadic, non-familial disorder, however, in some cases, it may be inherited as an autosomal dominant genetic trait. |
symptoms | What are the symptoms of Anemia due to Adenosine triphosphatase deficiency ? | What are the signs and symptoms of Anemia due to Adenosine triphosphatase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia due to Adenosine triphosphatase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nonspherocytic hemolytic anemia 5% 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. |
prevention | How to prevent Parasites - Loiasis ? | There are no programs to control or eliminate loiasis in affected areas. Your risk of infection may be less in areas where communities receive regular treatment for onchocerciasis or lymphatic filariasis.
There are no vaccines that protect you from loiasis. If you are going to be in an area with loiasis for a long period of time, diethylcarbamazine (DEC)—300mg taken once a week—can reduce your risk of infection. Avoiding areas where the deerflies are found, such as muddy, shaded areas along rivers or around wood fires, may also reduce your risk of infection. You may reduce your risk of bites by using insect repellants that contain DEET (N,N-Diethyl-meta-toluamide) and wearing long sleeves and long pants during the day, which is when deerflies bite. Treating your clothes with permethrin may also help. For a description of CDC's information for preventing insect bites, see CDC's Yellow Book.
More on: Insect Bite Prevention |
genetic changes | What are the genetic changes related to McLeod neuroacanthocytosis syndrome ? | Mutations in the XK gene cause McLeod neuroacanthocytosis syndrome. The XK gene provides instructions for producing the XK protein, which carries the blood antigen Kx. Blood antigens are found on the surface of red blood cells and determine blood type. The XK protein is found in various tissues, particularly the brain, muscle, and heart. The function of the XK protein is unclear; researchers believe that it might play a role in transporting substances into and out of cells. On red blood cells, the XK protein attaches to another blood group protein, the Kell protein. The function of this blood group complex is unknown. XK gene mutations typically lead to the production of an abnormally short, nonfunctional protein or cause no protein to be produced at all. A lack of XK protein leads to an absence of Kx antigens on red blood cells; the Kell antigen is also less prevalent. The absence of Kx antigen and reduction of Kell antigen is known as the "McLeod phenotype," and refers only to the red blood cells. It is not known how the lack of XK protein leads to the movement problems and other features of McLeod neuroacanthocytosis syndrome. |
information | What is (are) Skin Cancer ? | Skin cancer occurs when cancer cells form in the tissues of the skin. The skin is mainly made up of two layers: the inner layer, called the dermis, and the outer layer, called the epidermis. Within the epidermis, there are three types of cells; squamous cells, basal cells, and melanocytes. There are three types of skin cancer: basal cell carcinoma, squamous cell carcinoma, and melanoma. The types of cancer are named after the type of cells that are affected. Basal cell carcinoma and squamous cell carcinoma are very common, especially in older people. However, they are rarely life-threatening. Melanoma is a less common, yet more serious, type of cancer. |
inheritance | Is multiple cutaneous and mucosal venous malformations inherited ? | VMCM is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing venous malformations. Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are not inherited, are called somatic mutations. Researchers have discovered that some VMCM lesions have one inherited and one somatic TEK gene mutation. It is not known if the somatic mutation occurs before or after the venous malformation forms. As lesions are localized and not all veins are malformed, it is thought that the inherited mutation alone is not enough to cause venous malformations. In most cases, an affected person has one parent with the condition. |
genetic changes | What are the genetic changes related to rapid-onset dystonia parkinsonism ? | Rapid-onset dystonia parkinsonism is caused by mutations in the ATP1A3 gene. This gene provides instructions for making one part of a larger protein called Na+/K+ ATPase, also known as the sodium pump. This protein is critical for the normal function of nerve cells (neurons) in the brain. It transports charged atoms (ions) into and out of neurons, which is an essential part of the signaling process that controls muscle movement. Mutations in the ATP1A3 gene reduce the activity of the Na+/K+ ATPase or make the protein unstable. Studies suggest that the defective protein is unable to transport ions normally, which disrupts the electrical activity of neurons in the brain. However, it is unclear how a malfunctioning Na+/K+ ATPase causes the movement abnormalities characteristic of rapid-onset dystonia parkinsonism. In some people with rapid-onset dystonia parkinsonism, no mutation in the ATP1A3 gene has been identified. The genetic cause of the disorder is unknown in these individuals. Researchers believe that mutations in at least one other gene, which has not been identified, can cause this disorder. |
treatment | What are the treatments for Agenesis of the dorsal pancreas ? | How might agenesis of the dorsal pancreas be treated? Because agenesis of the dorsal pancreas is considered rare and few cases have been reported in the literature, there is limited information about how the condition as a whole might be treated or managed. However, there is current information about how some of the signs and symptoms associated with agenesis of the dorsal pancreas (such as pancreatitis) may be managed. For pancreatitis, individuals may be able to make themselves more comfortable during an attack, but they will most likely continue to have attacks until treatment is received for the underlying cause of the symptoms (when possible). If symptoms are mild, people might try the following preventive measures: stopping all alcohol consumption; adopting a liquid diet consisting of foods such as broth, gelatin, and soups (these simple foods may allow the inflammation process to get better); over-the-counter pain medications; and avoiding pain medications that can affect the liver (such as acetaminophen). Medical treatment is usually focused on relieving symptoms and preventing further aggravation to the pancreas. Certain complications of either acute pancreatitis or chronic pancreatitis may require surgery or a blood transfusion. In acute pancreatitis, the choice of treatment is based on the severity of the attack. Most people who are having an attack of acute pancreatitis are admitted to the hospital for oxygen (if having trouble breathing) and an intravenous (IV) line for medications and fluids. If needed, medications for pain and nausea may be prescribed. It may be recommended that no food or liquid is taken by mouth for a few days (this is called bowel rest). Some people may need a nasogastric (NG) tube to remove stomach juices which rests the intestine further, helping the pancreas recover. If the attack lasts longer than a few days, nutritional supplements may be administered through an IV line. In chronic pancreatitis, treatment focuses on relieving pain and avoiding further aggravation to the pancreas. Hyperglycemia (high blood sugar) management may depend on the exact cause if the condition in the affected individual. Management may include checking blood sugar levels with a blood glucose meter; checking urine for ketones; and adopting strategies to lower blood sugar level. Strategies might include exercise (only if urine ketones are not present); diet as discussed with a diabetes health educator or registered dietitian; and/or medication (especially if diet and exercise are not keeping blood sugar levels in the normal range) which may include insulin and/or other medications. Individuals seeking treatment options for themselves or others should speak with their health care provider about an individualized treatment plan; the information here is provided for general educational purposes only. |
symptoms | What are the symptoms of Turner syndrome ? | What are the signs and symptoms of Turner syndrome? There are various signs and symptoms of Turner syndrome, which can range from very mild to more severe. Short stature is the most common feature and usually becomes apparent by age 5. In early childhood, frequent middle ear infections are common and can lead to hearing loss in some cases. Most affected girls do not produce the necessary sex hormones for puberty, so they don't have a pubertal growth spurt, start their periods or develop breasts without hormone treatment. While most affected women are infertile, pregnancy is possible with egg donation and assisted reproductive technology. Intelligence is usually normal, but developmental delay, learning disabilities, and/or behavioral problems are sometimes present. Additional symptoms of Turner syndrome may include: a wide, webbed neck a low or indistinct hairline in the back of the head swelling (lymphedema) of the hands and feet broad chest and widely spaced nipples arms that turn out slightly at the elbow congenital heart defects or heart murmur scoliosis (curving of the spine) or other skeletal abnormalities kidney problems an underactive thyroid gland a slightly increased risk to develop diabetes, especially if older or overweight osteoporosis due to a lack of estrogen, (usually prevented by hormone replacement therapy). The Human Phenotype Ontology provides the following list of signs and symptoms for Turner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the aorta 90% Aplasia/Hypoplasia of the nipples 90% Cubitus valgus 90% Enlarged thorax 90% Low posterior hairline 90% Polycystic ovaries 90% Short stature 90% Abnormal dermatoglyphics 50% Abnormal localization of kidney 50% Abnormality of the fingernails 50% Abnormality of the metacarpal bones 50% Hypoplastic toenails 50% Melanocytic nevus 50% Secondary amenorrhea 50% Webbed neck 50% Atria septal defect 7.5% Atypical scarring of skin 7.5% Cognitive impairment 7.5% Cystic hygroma 7.5% Delayed skeletal maturation 7.5% Lymphedema 7.5% Ptosis 7.5% Reduced bone mineral density 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Pituitary Tumors ? | The pituitary is a small, bean-sized gland that is below the hypothalamus, a structure at the base of the brain, by a thread-like stalk that contains both blood vessels and nerves. It controls a system of hormones in the body that regulate growth, metabolism, the stress response, and functions of the sex organs via the thyroid gland, adrenal gland, ovaries, and testes. A pituitary tumor is an abnormal growth of cells within the pituitary gland. Most pituitary tumors are benign, which means they are non-cancerous, grow slowly and do not spread to other parts of the body; however they can make the pituitary gland produce either too many or too few hormones, which can cause problems in the body. Tumors that make hormones are called functioning tumors, and they can cause a wide array of symptoms depending upon the hormone affected. Tumors that dont make hormones are called non-functioning tumors. Their symptoms are directly related to their growth in size and include headaches, vision problems, nausea, and vomiting. Diseases related to hormone abnormalities include Cushings disease, in which fat builds up in the face, back and chest, and the arms and legs become very thin; and acromegaly, a condition in which the hands, feet, and face are larger than normal. Pituitary hormones that impact the sex hormones, such as estrogen and testosterone, can make a woman produce breast milk even though she is not pregnant or nursing, or cause a man to lose his sex drive or lower his sperm count. Pituitary tumors often go undiagnosed because their symptoms resemble those of so many other more common diseases. |
information | What is (are) Juvenile myoclonic epilepsy ? | Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. Seizures can be triggered by lack of sleep, extreme fatigue, stress, or alcohol consumption. Onset typically occurs around adolesence in otherwise healthy children. The exact cause of juvenile myoclonic epilepsy remains unknown, but genetics likely plays a role. Although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good. |
information | What is (are) Joint Disorders ? | A joint is where two or more bones come together, like the knee, hip, elbow, or shoulder. Joints can be damaged by many types of injuries or diseases, including - Arthritis - inflammation of a joint. It causes pain, stiffness, and swelling. Over time, the joint can become severely damaged. - Bursitis - inflammation of a fluid-filled sac that cushions the joint - Dislocations - injuries that force the ends of the bones out of position Treatment of joint problems depends on the cause. If you have a sports injury, treatment often begins with the RICE (Rest, Ice, Compression, and Elevation) method to relieve pain, reduce swelling, and speed healing. Other possible treatments include pain relievers, keeping the injured area from moving, rehabilitation, and sometimes surgery. For arthritis, injuries, or other diseases, you may need joint replacement surgery to remove the damaged joint and put in a new one. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases |
frequency | How many people are affected by congenital diaphragmatic hernia ? | Congenital diaphragmatic hernia affects approximately 1 in 2,500 newborns. |
inheritance | Is isolated Duane retraction syndrome inherited ? | Isolated Duane retraction syndrome usually occurs in people with no history of the disorder in their family. These cases are described as simplex, and their genetic cause is unknown. Less commonly, isolated Duane retraction syndrome can run in families. Familial cases most often have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When isolated Duane retraction syndrome is caused by CHN1 mutations, it has an autosomal dominant inheritance pattern. In a few families with isolated Duane retraction syndrome, the pattern of affected family members suggests autosomal recessive inheritance. In these families, one or more children are affected, although the parents typically have no signs or symptoms of the condition. The parents of children with an autosomal recessive condition are called carriers, which means they carry one mutated copy of a gene in each cell. In affected children, both copies of the gene in each cell are mutated. However, researchers have not discovered the gene or genes responsible for autosomal recessive isolated Duane retraction syndrome. |
symptoms | What are the symptoms of Acrodermatitis enteropathica ? | What are the signs and symptoms of Acrodermatitis enteropathica? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrodermatitis enteropathica. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the eyebrow 90% Alopecia 90% Cerebral cortical atrophy 90% Diarrhea 90% Dry skin 90% Malabsorption 90% Pustule 90% Short stature 90% Abnormality of the fingernails 50% Abnormality of the toenails 50% Cheilitis 50% Furrowed tongue 50% Glossitis 50% Inflammatory abnormality of the eye 50% Photophobia 50% Skin ulcer 50% Anorexia 7.5% Corneal erosion 7.5% Visual impairment 7.5% Weight loss 7.5% Alopecia of scalp - Ataxia - Autosomal recessive inheritance - Decreased taste sensation - Decreased testicular size - Decreased testosterone in males - Emotional lability - Failure to thrive - Hepatomegaly - Hypogonadism - Impaired T cell function - Infantile onset - Irritability - Lethargy - Low alkaline phosphatase - Paronychia - Poor appetite - Recurrent candida infections - Splenomegaly - Tremor - 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. |
prevention | How to prevent Crimean-Congo Hemorrhagic Fever (CCHF) ? | Agricultural workers and others working with animals should use insect repellent on exposed skin and clothing. Insect repellants containing DEET (N, N-diethyl-m-toluamide) are the most effective in warding off ticks. Wearing gloves and other protective clothing is recommended. Individuals should also avoid contact with the blood and body fluids of livestock or humans who show symptoms of infection. It is important for healthcare workers to use proper infection control precautions to prevent occupational exposure.
An inactivated, mouse-brain derived vaccine against CCHF has been developed and is used on a small scale in Eastern Europe. However, there is no safe and effective vaccine currently available for human use. Further research is needed to develop these potential vaccines as well as determine the efficacy of different treatment options including ribavirin and other antiviral drugs. |
symptoms | What are the symptoms of Shapiro syndrome ? | What are the signs and symptoms of Shapiro syndrome? Shapiro syndrome generally consists of three findings: spontaneous periodic hypothermia, excessive sweating, and agenesis of the corpus callosum. However, there has been a documented case of a 4-year-old girl with Shapiro syndrome who did not have agenesis of the corpus callosum. Additionally, there have been some patients who also produce excessive amounts of urine (polyuria) and have experienced excessive thirst (polydipsia). Given that some people with Shapiro syndrome do not respond well to the various treatment options available for the condition, the symptoms may worsen with time for some people. The Human Phenotype Ontology provides the following list of signs and symptoms for Shapiro 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) Gait disturbance 90% Hyperhidrosis 90% Hypothermia 90% Incoordination 90% Nausea and vomiting 90% Pallor 90% Arrhythmia 50% Reduced consciousness/confusion 50% Seizures 50% Sleep disturbance 50% Tremor 50% Abnormal pattern of respiration 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Diarrhea 7.5% Skin rash 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Inflammatory breast cancer ? | Inflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer in which the cancer cells block the lymph vessels in the skin of the breast. This type of breast cancer is called inflammatory because the breast often looks swollen and red, or inflamed. The skin may also look dimpled like the skin of an orange. IBC can be difficult to diagnose because there is no lump to feel or detect on a mammogram. It is crucial to identify IBC right away because early diagnosis and treatment can greatly improve the outcome. Patients are often given a combination of treatments, including chemotherapy, surgery, and radiation therapy. Approximately one-third of individuals diagnosed with IBC will become long-term survivors. Like other types of breast cancer, IBC can occur in men, but usually at an older age than in women. Some studies have shown an association between family history of breast cancer and IBC, but more studies are needed to draw firm conclusions. |
information | What is (are) autosomal recessive congenital methemoglobinemia ? | Autosomal recessive congenital methemoglobinemia is an inherited condition that mainly affects the function of red blood cells. Specifically, it alters a molecule within these cells called hemoglobin. Hemoglobin carries oxygen to cells and tissues throughout the body. In people with autosomal recessive congenital methemoglobinemia, some of the normal hemoglobin is replaced by an abnormal form called methemoglobin, which is unable to deliver oxygen to the body's tissues. As a result, tissues in the body become oxygen deprived, leading to a bluish appearance of the skin, lips, and nails (cyanosis). There are two forms of autosomal recessive congenital methemoglobinemia: types I and II. People with type I have cyanosis from birth and may experience weakness or shortness of breath related to the shortage of oxygen in their tissues. People with type II have cyanosis as well as severe neurological problems. After a few months of apparently normal development, children with type II develop severe brain dysfunction (encephalopathy), uncontrolled muscle tensing (dystonia), and involuntary limb movements (choreoathetosis); also, the size of their head remains small and does not grow in proportion with their body (microcephaly). People with type II have severe intellectual disability; they can recognize faces and usually babble but speak no words. They can sit unassisted and grip objects but have impaired motor skills that leave them unable to walk. In type II, growth is often slowed. Abnormal facial muscle movements can interfere with swallowing, which can lead to feeding difficulties and further slow growth. People with autosomal recessive congenital methemoglobinemia type I have a normal life expectancy, but people with type II often do not survive past early adulthood. |
research | what research (or clinical trials) is being done for Canavan Disease ? | The gene for Canavan disease has been located. Many laboratories offer prenatal screening for this disorder to populations at risk. Scientists have developed animal models for this disease and are using the models to test potential therapeutic strategies. Three strategies are currently under investigation: gene transfer to the brain in order to replace the mutated gene for the enzyme; metabolic therapy to provide a crucial missing metabolite (acetate); and enzyme therapy where the enzyme aspartoacylase is engineered to be able to enter the brain and is injected in the the blood stream. Encouraging results have been obtained using these strategies. |
information | What is (are) Ochoa syndrome ? | Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions. The urinary problems associated with Ochoa syndrome typically become apparent in early childhood or adolescence. People with this disorder may have difficulty controlling the flow of urine (incontinence), which can lead to bedwetting. Individuals with Ochoa syndrome may be unable to completely empty the bladder, often resulting in vesicoureteral reflux, a condition in which urine backs up into the ducts that normally carry it from each kidney to the bladder (the ureters). Urine may also accumulate in the kidneys (hydronephrosis). Vesicoureteral reflux and hydronephrosis can lead to frequent infections of the urinary tract and kidney inflammation (pyelonephritis), causing damage that may eventually result in kidney failure. Individuals with Ochoa syndrome also exhibit a characteristic frown-like facial grimace when they try to smile or laugh, often described as inversion of facial expression. While this feature may appear earlier than the urinary tract symptoms, perhaps as early as an infant begins to smile, it is often not brought to medical attention. Approximately two-thirds of individuals with Ochoa syndrome also experience problems with bowel function, such as constipation, loss of bowel control, or muscle spasms of the anus. |
exams and tests | How to diagnose Stroke ? | Your doctor will diagnose a stroke based on your signs and symptoms, your medical history, a physical exam, and test results.
Your doctor will want to find out the type of stroke youve had, its cause, the part of the brain that's affected, and whether you have bleeding in the brain.
If your doctor thinks youve had a transient ischemic attack (TIA), he or she will look for its cause to help prevent a future stroke.
Medical History and Physical Exam
Your doctor will ask you or a family member about your risk factors for stroke. Examples of risk factors include high blood pressure, smoking, heart disease, and a personal or family history of stroke. Your doctor also will ask about your signs and symptoms and when they began.
During the physical exam, your doctor will check your mental alertness and your coordination and balance. He or she will check for numbness or weakness in your face, arms, and legs; confusion; and trouble speaking and seeing clearly.
Your doctor will look for signs of carotid artery disease, a common cause of ischemic stroke. He or she will listen to your carotid arteries with a stethoscope. A whooshing sound called a bruit (broo-E) may suggest changed or reduced blood flow due to plaque buildup in the carotid arteries.
Diagnostic Tests and Procedures
Your doctor may recommend one or more of the following tests to diagnose a stroke or TIA.
Brain Computed Tomography
A brain computed tomography (to-MOG-rah-fee) scan, or brain CT scan, is a painless test that uses x rays to take clear, detailed pictures of your brain. This test often is done right after a stroke is suspected.
A brain CT scan can show bleeding in the brain or damage to the brain cells from a stroke. The test also can show other brain conditions that may be causing your symptoms.
Magnetic Resonance Imaging
Magnetic resonance imaging (MRI) uses magnets and radio waves to create pictures of the organs and structures in your body. This test can detect changes in brain tissue and damage to brain cells from a stroke.
An MRI may be used instead of, or in addition to, a CT scan to diagnose a stroke.
Computed Tomography Arteriogram and Magnetic Resonance Arteriogram
A CT arteriogram (CTA) and magnetic resonance arteriogram (MRA) can show the large blood vessels in the brain. These tests may give your doctor more information about the site of a blood clot and the flow of blood through your brain.
Carotid Ultrasound
Carotid ultrasound is a painless and harmless test that uses sound waves to create pictures of the insides of your carotid arteries. These arteries supply oxygen-rich blood to your brain.
Carotid ultrasound shows whether plaque has narrowed or blocked your carotid arteries.
Your carotid ultrasound test may include a Doppler ultrasound. Doppler ultrasound is a special test that shows the speed and direction of blood moving through your blood vessels.
Carotid Angiography
Carotid angiography (an-jee-OG-ra-fee) is a test that uses dye and special x rays to show the insides of your carotid arteries.
For this test, a small tube called a catheter is put into an artery, usually in the groin (upper thigh). The tube is then moved up into one of your carotid arteries.
Your doctor will inject a substance (called contrast dye) into the carotid artery. The dye helps make the artery visible on x-ray pictures.
Heart Tests
EKG (Electrocardiogram)
An EKG is a simple, painless test that records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through each part of the heart.
An EKG can help detect heart problems that may have led to a stroke. For example, the test can help diagnose atrial fibrillation or a previous heart attack.
Echocardiography
Echocardiography (EK-o-kar-de-OG-ra-fee), or echo, is a painless test that uses sound waves to create pictures of your heart.
The test gives information about the size and shape of your heart and how well your heart's chambers and valves are working.
Echo can detect possible blood clots inside the heart and problems with the aorta. The aorta is the main artery that carries oxygen-rich blood from your heart to all parts of your body.
Blood Tests
Your doctor also may use blood tests to help diagnose a stroke.
A blood glucose test measures the amount of glucose (sugar) in your blood. Low blood glucose levels may cause symptoms similar to those of a stroke.
A platelet count measures the number of platelets in your blood. Blood platelets are cell fragments that help your blood clot. Abnormal platelet levels may be a sign of a bleeding disorder (not enough clotting) or a thrombotic disorder (too much clotting).
Your doctor also may recommend blood tests to measure how long it takes for your blood to clot. Two tests that may be used are called PT and PTT tests. These tests show whether your blood is clotting normally. |
information | What is (are) Bilateral frontoparietal polymicrogyria ? | Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia, strabismus, and dysconjugate gaze (eyes that are not aligned). Some cases are caused by mutations in the GPR56 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. |
genetic changes | What are the genetic changes related to cartilage-hair hypoplasia ? | Cartilage-hair hypoplasia is caused by mutations in the RMRP gene. Unlike many genes, the RMRP gene does not contain instructions for making a protein. Instead, a molecule called a noncoding RNA, a chemical cousin of DNA, is produced from the RMRP gene. This RNA attaches (binds) to several proteins, forming an enzyme complex called mitochondrial RNA-processing endoribonuclease, or RNase MRP. The RNase MRP enzyme is thought to be involved in several important processes in the cell. For example, it likely helps copy (replicate) the DNA found in the energy-producing centers of cells (mitochondria). The RNase MRP enzyme probably also processes ribosomal RNA, which is required for assembling protein building blocks (amino acids) into functioning proteins. In addition, this enzyme helps control the cell cycle, which is the cell's way of replicating itself in an organized, step-by-step fashion. Mutations in the RMRP gene likely result in the production of a noncoding RNA that is unstable. This unstable molecule cannot bind to some of the proteins needed to make the RNase MRP enzyme complex. These changes are believed to affect the activity of the enzyme, which interferes with its important functions within cells. Disruption of the RNase MRP enzyme complex causes the signs and symptoms of cartilage-hair hypoplasia. |
information | What is (are) Muscle eye brain disease ? | Muscle eye brain disease is a rare form of congenital muscular dystrophy. Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability. People with muscle eye brain disease frequently have additional eye abnormalities, hydrocephalus, and distinctive facial features. This condition is caused by mutations in gene a called POMGNT1, and it is inherited in an autosomal recessive pattern. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. |
exams and tests | How to diagnose Atypical hemolytic uremic syndrome ? | Is genetic testing available for atypical hemolytic-uremic syndrome? GeneTests lists the names of laboratories that are performing genetic testing for atypical hemolytic-uremic syndrome. To view the contact information for the clinical laboratories conducting testing click here and follow the "testing" link pertaining to each gene. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. In the Genetic Services section of this letter we provide a list of online resources that can assist you in locating a genetics professional near you. |
treatment | What are the treatments for Diffuse idiopathic skeletal hyperostosis ? | How might diffuse idiopathic skeletal hyperostosis be treated? Treatment of diffuse idiopathic skeletal hyperostosis (DISH) is focused on the signs and symptoms present in each person. For example, pain caused by DISH is often treated with pain relievers, such as acetaminophen (Tylenol, others) or nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen (Advil, Motrin, others). Affected people with severe pain may be treated with corticosteroid injections. Physical therapy and/or exercise may reduce the stiffness associated with DISH and can help increase range of motion in the joints. In rare cases, surgery may be necessary if severe complications develop. For example, people who experience difficulty swallowing may need surgery to remove the bone spurs in the neck. How might severe diffuse idiopathic skeletal hyperostosis (DISH) be treated? Although diffuse idiopathic skeletal hyperostosis (DISH) affects 25% of men and 15% of women over the age of 50 years old, many affected people do not have symptoms. However some people with DISH have stiffness and pain, most commonly in the spinal region or back. In rare cases the joint stiffness and pain is severe and the areas of the spine affected by DISH may have very limited movement. Knees, hips, hands and other joints may also be affected, more commonly in the more severe cases. Therapy for DISH is based on symptoms. In general, physical therapy, analgesics, sedation, anti-inflammatory drugs, and muscle relaxants have all been successful in managing the majority of patients with DISH. Even though few studies have focused on indications for surgery, it is generally accepted that surgery is indicated for patients with severe symptoms (such as airway obstruction and/or dysphagia) in whom conservative approach has failed. |
treatment | What are the treatments for Intrahepatic cholangiocarcinoma ? | How might intrahepatic cholangiocarcinoma be treated? Can it be cured? Surgery to completely remove the bile duct and tumor is the only option that can possibly lead to a cure for patients. The type of operation will depend on the size and location of the cancer. For cases of intrahepatic cancers that cannot be surgically removed, a liver transplantation may be an option. In some cases, a liver transplant might even cure the cancer. Finally, radiation and chemotherapy are also treatment options available for intrahepatic cholangiocarcioma either in addition to surgery or on their own. |
treatment | What are the treatments for Nerve Disease and Bladder Control ? | The treatment for a bladder control problem depends on the cause of the nerve damage and the type of voiding dysfunction that results.
In the case of overactive bladder, your doctor may suggest a number of strategies, including bladder training, electrical stimulation, drug therapy, and, in severe cases where all other treatments have failed, surgery.
Bladder training. Your doctor may ask you to keep a bladder diary-a record of your fluid intake, trips to the bathroom, and episodes of urine leakage. This record may indicate a pattern and suggest ways to avoid accidents by making a point of using the bathroom at certain times of the day-a practice called timed voiding. As you gain control, you can extend the time between trips to the bathroom. Bladder training also includes Kegel exercises to strengthen the muscles that hold in urine.
Electrical stimulation. Mild electrical pulses can be used to stimulate the nerves that control the bladder and sphincter muscles. Depending on which nerves the doctor plans to treat, these pulses can be given through the vagina or anus, or by using patches on the skin. Another method is a minor surgical procedure to place the electric wire near the tailbone. This procedure involves two steps. First, the wire is placed under the skin and connected to a temporary stimulator, which you carry with you for several days. If your condition improves during this trial period, then the wire is placed next to the tailbone and attached to a permanent stimulator under your skin. The Food and Drug Administration (FDA) has approved this device, marketed as the InterStim system, to treat urge incontinence, urgency-frequency syndrome, and urinary retention in patients for whom other treatments have not worked.
Drug therapy. Different drugs can affect the nerves and muscles of the urinary tract in different ways.
- Drugs that relax bladder muscles and prevent bladder spasms include oxybutynin chloride (Ditropan), tolterodine (Detrol), hyoscyamine (Levsin), and propantheline bromide (Pro-Banthine), which belong to the class of drugs called anticholinergics. Their most common side effect is dry mouth, although large doses may cause blurred vision, constipation, a faster heartbeat, and flushing. A new patch delivery system for oxybutynin (Oxytrol) may decrease side effects. Ditropan XL and Detrol LA are timed-release formulations that deliver a low level of the drug continuously in the body. These drugs have the advantage of once-a-day administration. In 2004, the FDA approved trospium chloride (Sanctura), darifenacin (Enablex), and solifenacin succinate (VESIcare) for the treatment of overactive bladder. - Drugs for depression that also relax bladder muscles include imipramine hydrochloride (Tofranil), a tricyclic antidepressant. Side effects may include fatigue, dry mouth, dizziness, blurred vision, nausea, and insomnia.
Additional drugs are being evaluated for the treatment of overactive bladder and may soon receive FDA approval.
Surgery. In extreme cases, when incontinence is severe and other treatments have failed, surgery may be considered. The bladder may be made larger through an operation known as augmentation cystoplasty, in which a part of the diseased bladder is replaced with a section taken from the patient's bowel. This operation may improve the ability to store urine but may make the bladder more difficult to empty, making regular catheterization necessary. Additional risks of surgery include the bladder breaking open and leaking urine into the body, bladder stones, mucus in the bladder, and infection. |
treatment | What are the treatments for Multifocal Motor Neuropathy ? | Treatment for multifocal motor neuropathy varies. Some individuals experience only mild, modest symptoms and require no treatment. For others, treatment generally consists of intravenous immunoglobulin (IVIg) or immunosuppressive therapy with cyclophosphamide. |
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