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symptoms | What are the symptoms of Anophthalmos with limb anomalies ? | What are the signs and symptoms of Anophthalmos with limb anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Anophthalmos with limb anomalies. 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 eyebrow 90% Abnormality of the metacarpal bones 90% Aplasia/Hypoplasia affecting the eye 90% Blepharophimosis 90% Finger syndactyly 90% Frontal bossing 90% Sandal gap 90% Synostosis of carpal bones 90% Toe syndactyly 90% Abnormal form of the vertebral bodies 50% Abnormality of bone mineral density 50% Abnormality of the fibula 50% Abnormality of the thumb 50% Abnormality of the tibia 50% Cleft upper lip 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Hand polydactyly 50% Optic atrophy 50% Single transverse palmar crease 50% Split hand 50% Tarsal synostosis 50% Abnormal localization of kidney 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Malar flattening 7.5% Postaxial foot polydactyly 7.5% Talipes 7.5% Venous insufficiency 7.5% Abnormality of the cardiovascular system - Abnormality of the hair - Anophthalmia - Autosomal recessive inheritance - Camptodactyly of 2nd-5th fingers - Deep philtrum - Depressed nasal bridge - Fibular hypoplasia - Flared nostrils - Fused fourth and fifth metacarpals - High palate - Hip dislocation - Intellectual disability - Low-set ears - Microphthalmia - Oligodactyly (feet) - Oligodactyly (hands) - Postaxial hand polydactyly - Posteriorly rotated ears - Postnatal growth retardation - Prominent forehead - Retrognathia - Short nose - Short palpebral fissure - Talipes equinovarus - Tibial bowing - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
frequency | How many people are affected by Kallmann syndrome ? | Kallmann syndrome is estimated to affect 1 in 10,000 to 86,000 people and occurs more often in males than in females. Kallmann syndrome 1 is the most common form of the disorder. |
treatment | What are the treatments for alpha-methylacyl-CoA racemase deficiency ? | These resources address the diagnosis or management of AMACR deficiency: - Genetic Testing Registry: Alpha-methylacyl-CoA racemase deficiency - Kennedy Krieger Institute: Peroxisomal Diseases 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) Alport syndrome ? | Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome also frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. In 80% of cases, Alport syndrome is inherited in an X-linked manner and is caused by mutations in the COL4A5 gene. In the remaining cases, it may be inherited in either an autosomal recessive or autosomal dominant manner and caused by mutations in the COL4A3 or COL4A4 genes. Treatment may include use of a hearing aid; hemodialysis and peritoneal dialysis to treat those with end-stage renal failure; and kidney transplantation. |
outlook | What is the outlook for Arachnoiditis ? | Arachnoiditis is adisorder that causes chronic pain and neurological deficits and does not improve significantly with treatment.Surgery may only provide temporary relief. The outlook for someone witharachnoiditis iscomplicated by the fact that the disorder has no predictable pattern or severity of symptoms. |
symptoms | What are the symptoms of Diabetes ? | Many people with diabetes experience one or more symptoms, including extreme thirst or hunger, a frequent need to urinate and/or fatigue. Some lose weight without trying. Additional signs include sores that heal slowly, dry, itchy skin, loss of feeling or tingling in the feet and blurry eyesight. Some people with diabetes, however, have no symptoms at all. |
treatment | What are the treatments for Biliary Atresia ? | Biliary atresia is treated with surgery, called the Kasai procedure, or a liver transplant.
Kasai Procedure
The Kasai procedure, named after the surgeon who invented the operation, is usually the first treatment for biliary atresia. During a Kasai procedure, the pediatric surgeon removes the infants damaged bile ducts and brings up a loop of intestine to replace them. As a result, bile flows straight to the small intestine.
While this operation doesnt cure biliary atresia, it can restore bile flow and correct many problems caused by biliary atresia. Without surgery, infants with biliary atresia are unlikely to live past age 2. This procedure is most effective in infants younger than 3 months old, because they usually havent yet developed permanent liver damage. Some infants with biliary atresia who undergo a successful Kasai procedure regain good health and no longer have jaundice or major liver problems.
If the Kasai procedure is not successful, infants usually need a liver transplant within 1 to 2 years. Even after a successful surgery, most infants with biliary atresia slowly develop cirrhosis over the years and require a liver transplant by adulthood.
Liver Transplant
Liver transplantation is the definitive treatment for biliary atresia, and the survival rate after surgery has increased dramatically in recent years. As a result, most infants with biliary atresia now survive. Progress in transplant surgery has also increased the availability and efficient use of livers for transplantation in children, so almost all infants requiring a transplant can receive one.
In years past, the size of the transplanted liver had to match the size of the infants liver. Thus, only livers from recently deceased small children could be transplanted into infants with biliary atresia. New methods now make it possible to transplant a portion of a deceased adults liver into an infant. This type of surgery is called a reduced-size or split-liver transplant.
Part of a living adult donors liver can also be used for transplantation. Healthy liver tissue grows quickly; therefore, if an infant receives part of a liver from a living donor, both the donor and the infant can grow complete livers over time.
Infants with fetal biliary atresia are more likely to need a liver transplantand usually soonerthan infants with the more common perinatal form. The extent of damage can also influence how soon an infant will need a liver transplant. |
exams and tests | How to diagnose Osteoporosis ? | Who Should Be Tested? The United States Preventive Service Task Force recommends that women aged 65 and older be screened (tested) for osteoporosis, as well as women aged 60 and older who are at increased risk for an osteoporosis-related fracture. However, the decision of whether or not to have a bone density test is best made between a patient and his or her physician. Medicare will usually cover the cost of a bone density test, and a follow up test every 2 years, for female beneficiaries. It also will cover screening and follow up of any male Medicare recipients who have significant risk factors for osteoporosis. When To Talk With a Doctor Consider talking to your doctor about being evaluated for osteoporosis if - you are a man or woman over age 50 or a postmenopausal woman and you break a bone - you are a woman age 65 or older - you are a woman younger than 65 and at high risk for fractures - you have lost height, developed a stooped or hunched posture, or experienced sudden back pain with no apparent cause - you have been taking glucocorticoid medications such as prednisone, cortisone, or dexamethasone for 2 months or longer or are taking other medications known to cause bone loss - you have a chronic illness or are taking a medication that is known to cause bone loss - you have anorexia nervosa or a history of this eating disorder. - you are a premenopausal woman, not pregnant, and your menstrual periods have stopped, are irregular, or never started when you reached puberty. you are a man or woman over age 50 or a postmenopausal woman and you break a bone you are a woman age 65 or older you are a woman younger than 65 and at high risk for fractures you have lost height, developed a stooped or hunched posture, or experienced sudden back pain with no apparent cause you have been taking glucocorticoid medications such as prednisone, cortisone, or dexamethasone for 2 months or longer or are taking other medications known to cause bone loss you have a chronic illness or are taking a medication that is known to cause bone loss you have anorexia nervosa or a history of this eating disorder. you are a premenopausal woman, not pregnant, and your menstrual periods have stopped, are irregular, or never started when you reached puberty. Diagnosing Osteoporosis Diagnosing osteoporosis involves several steps, starting with a physical exam and a careful medical history, blood and urine tests, and possibly a bone mineral density assessment. When recording information about your medical history, your doctor will ask questions to find out whether you have risk factors for osteoporosis and fractures. The doctor may ask about - any fractures you have had - your lifestyle (including diet, exercise habits, and whether you smoke) - current or past health problems - medications that could contribute to low bone mass and increased fracture risk - your family history of osteoporosis and other diseases - for women, your menstrual history. any fractures you have had your lifestyle (including diet, exercise habits, and whether you smoke) current or past health problems medications that could contribute to low bone mass and increased fracture risk your family history of osteoporosis and other diseases for women, your menstrual history. The doctor will also do a physical exam that should include checking for loss of height and changes in posture and may include checking your balance and gait (the way you walk). Bone Density Tests The test used to diagnose osteoporosis is called a bone density test. This test is a measure of how strong -- or dense -- your bones are and can help your doctor predict your risk for having a fracture. Bone density tests are painless, safe, and require no preparation on your part. Bone density tests compare your bone density to the bones of an average healthy young adult. The test result, known as a T-score, tells you how strong your bones are, whether you have osteoporosis or osteopenia (low bone mass that is not low enough to be diagnosed as osteoporosis), and your risk for having a fracture. Some bone density tests measure the strength of the hip, spine, and/or wrist, which are the bones that break most often in people with osteoporosis. Other tests measure bone in the heel or hand. Although no bone density test is 100 percent accurate, it is the single most important diagnostic test to predict whether a person will have a fracture in the future. The most widely recognized bone density test is a central DXA (dual-energy x-ray absorptiometry) scan of the hip and spine. This test shows if you have normal bone density, low bone mass, or osteoporosis. It is also used to monitor bone density changes as a person ages or in response to treatment. |
information | What is (are) ZAP70-related severe combined immunodeficiency ? | ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70-related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. Infants with SCID typically experience pneumonia, chronic diarrhea, and widespread skin rashes. They also grow much more slowly than healthy children. If not treated in a way that restores immune function, children with SCID usually live only a year or two. Most individuals with ZAP70-related SCID are diagnosed in the first 6 months of life. At least one individual first showed signs of the condition later in childhood and had less severe symptoms, primarily recurrent respiratory and skin infections. |
information | What is (are) X-linked infantile nystagmus ? | X-linked infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary side-to-side movements of the eyes. In people with this condition, nystagmus is present at birth or develops within the first six months of life. The abnormal eye movements may worsen when an affected person is feeling anxious or tries to stare directly at an object. The severity of nystagmus varies, even among affected individuals within the same family. Sometimes, affected individuals will turn or tilt their head to compensate for the irregular eye movements. |
inheritance | Is dystrophic epidermolysis bullosa inherited ? | The most severe types of dystrophic epidermolysis bullosa are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means that both copies of the COL7A1 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. A milder form of dystrophic epidermolysis bullosa has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. About 70 percent of all people with autosomal dominant dystrophic epidermolysis bullosa have inherited an altered COL7A1 gene from an affected parent. The remaining 30 percent of affected people have the condition as a result of a new mutation in the COL7A1 gene. These cases occur in people with no history of the disorder in their family. |
causes | What causes Cushing's syndrome ? | What causes Cushing's syndrome? Cushing's syndrome is caused by long-term exposure of the body's tissues to cortisol, a hormone that is naturally produced by the adrenal gland. Exposure to too much cortisol can result from long-term use of corticosteriod medications used to treat inflammatory illnesses. Pituitary adenomas (benign tumors of the pituitary gland) or tumors of the adrenal gland may also cause cortisol imbalances. |
inheritance | Is Triple A syndrome inherited ? | How is triple A syndrome inherited? Triple A syndrome 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 and are referred to as "carriers" but they typically do not show signs and symptoms of the condition. When 2 carriers for the same autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will have the condition, a 50% (1 in 2) chance that the child will be a carrier like each of the parents, and a 25% chance that the child will not have the condition and not be a carrier for the condition. |
symptoms | What are the symptoms of Geniospasm ? | What are the signs and symptoms of Geniospasm? The Human Phenotype Ontology provides the following list of signs and symptoms for Geniospasm. 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 - Chin myoclonus - 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) Nephropathic cystinosis ? | Cystinosis is an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. All three types of cystinosis are caused by mutations in the CTNS gene and inherited in an autosomal recessive pattern.[1] |
inheritance | Is MECP2-related severe neonatal encephalopathy inherited ? | MECP2-related severe neonatal encephalopathy has an X-linked pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell is sufficient to cause the condition. In females, who have two X chromosomes, a mutation in one of the two copies of the gene in each cell is usually sufficient to cause the condition. However, females with a mutation in the MECP2 gene do not develop MECP2-related severe neonatal encephalopathy. Instead, they typically develop Rett syndrome, which has signs and symptoms that include intellectual disability, seizures, and movement problems. In some cases, males with MECP2-related severe neonatal encephalopathy inherit the mutation from a mother with mild neurological problems or from a mother with no features related to the mutation. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. |
symptoms | What are the symptoms of Chondrosarcoma ? | What are the signs and symptoms of Chondrosarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrosarcoma. 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 - Chondrosarcoma - 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 Platelet storage pool deficiency ? | How might platelet storage pool deficiency be treated? Treatment for platelet storage pool deficiency is symptomatic. For example, people who have severe episodes of bleeding may require platelet transfusions or antifibrinolytic medications, particularly during periods of high risk such as during surgical procedures or after an injury. Transfusions are generally used with caution as the potential risks often outweigh the benefits when bleeding is not life-threatening. People with a platelet storage pool deficiency should avoid antiplatelet drugs such as aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDS). |
research | what research (or clinical trials) is being done for Laryngeal Cancer ? | 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 Web site. Chemoprevention Chemoprevention is the use of drugs, vitamins, or other substances to reduce the risk of developing cancer or to reduce the risk cancer will recur (come back). The drug isotretinoin is being studied to prevent the development of a second cancer in patients who have had cancer of the head or neck. Radiosensitizers Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers may kill more tumor cells.
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 Cushing disease ? | What are the signs and symptoms of Cushing disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cushing disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of adipose tissue 90% Hypercortisolism 90% Neoplasm of the endocrine system 90% Round face 90% Thin skin 90% Truncal obesity 90% Acne 50% Bruising susceptibility 50% Decreased fertility 50% Diabetes mellitus 50% Hypertension 50% Hypertrichosis 50% Hypokalemia 50% Nephrolithiasis 50% Recurrent fractures 50% Reduced bone mineral density 50% Abdominal pain 7.5% Abnormality of the gastric mucosa 7.5% Aseptic necrosis 7.5% Cataract 7.5% Generalized hyperpigmentation 7.5% Hypertrophic cardiomyopathy 7.5% Migraine 7.5% Myopathy 7.5% Paronychia 7.5% Reduced consciousness/confusion 7.5% Secondary amenorrhea 7.5% Skin ulcer 7.5% Sleep disturbance 7.5% Telangiectasia of the skin 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Abdominal obesity - Abnormal fear/anxiety-related behavior - Alkalosis - Biconcave vertebral bodies - Edema - Facial erythema - Glucose intolerance - Hirsutism - Increased circulating ACTH level - Kyphosis - Mood changes - Oligomenorrhea - Osteoporosis - Pituitary adenoma - Poor wound healing - Psychotic mentation - Purpura - Skeletal muscle atrophy - Striae distensae - Vertebral compression fractures - 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 ZAP70-related severe combined immunodeficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
information | What is (are) Miller syndrome ? | Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals. Children with Miller syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). They often have an opening in the roof of the mouth (cleft palate) and/or a split in the upper lip (cleft lip). These abnormalities frequently cause feeding problems in infants with Miller syndrome. The airway is usually restricted due to the micrognathia, which can lead to life-threatening breathing problems. People with Miller syndrome often have eyes that slant downward, eyelids that turn out so the inner surface is exposed (ectropion), and a notch in the lower eyelids called an eyelid coloboma. Many affected individuals have small, cup-shaped ears, and some have hearing loss caused by defects in the middle ear (conductive hearing loss). Another feature of this condition is the presence of extra nipples. Miller syndrome does not affect a person's intelligence, although speech development may be delayed due to hearing impairment. Individuals with Miller syndrome have various bone abnormalities in their arms and legs. The most common problem is absent fifth (pinky) fingers and toes. Affected individuals may also have webbed or fused fingers or toes (syndactyly) and abnormally formed bones in the forearms and lower legs. People with Miller syndrome sometimes have defects in other bones, such as the ribs or spine. Less commonly, affected individuals have abnormalities of the heart, kidneys, genitalia, or gastrointestinal tract. |
treatment | What are the treatments for trisomy 18 ? | These resources address the diagnosis or management of trisomy 18: - Genetic Testing Registry: Complete trisomy 18 syndrome - MedlinePlus Encyclopedia: Trisomy 18 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
treatment | What are the treatments for Heart Failure ? | There is no cure for heart failure, but it can be controlled by treating the underlying conditions that cause it. Treatment for heart failure will depend on the type and stage of heart failure (the severity of the condition). The goals for treatment of all stages of heart failure are to reduce symptoms, treat the cause (such as heart disease, high blood pressure, or diabetes), stop the disease from worsening, and prolong life. Treatments for Heart Failure Treatments for heart failure include - lifestyle changes - medications - specialized care for those who are in the advanced stages. lifestyle changes medications specialized care for those who are in the advanced stages. Treatment for heart failure will reduce the chances that you will have to go to the hospital and make it easier for you to do the things you like to do. It is very important that you follow your treatment plan by keeping doctor appointments, taking medications, and making lifestyle changes. |
treatment | What are the treatments for autoimmune Addison disease ? | These resources address the diagnosis or management of autoimmune Addison disease: - Genetic Testing Registry: Addison's disease - MedlinePlus Encyclopedia: Addison's Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
causes | What causes Lipodermatosclerosis ? | What causes lipodermatosclerosis? The exact cause of lipodermatosclerosis is unknown; however, it may be related to certain vein abnormalities and/or obesity. Lipodermatosclerosis often occurs in people with venous insufficiency. Approximately two thirds of affected people are obese. |
treatment | What are the treatments for Transverse Myelitis ? | No effective cure currently exists for people with transverse myelitis. Physicians often prescribe corticosteroid therapy during the first few weeks of illness to decrease inflammation. Following initial therapy, the most critical part of the treatment for this disorder consists of keeping the patients body functioning while hoping for either complete or partial spontaneous recovery of the nervous system. If an individual begins to recover limb control, physical therapy begins to help improve muscle strength, coordination, and range of motion. |
symptoms | What are the symptoms of 16q24.3 microdeletion syndrome ? | What are the signs and symptoms of 16q24.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 16q24.3 microdeletion 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 pinna 90% Autism 90% High forehead 90% Abnormality of neuronal migration 50% Abnormality of the palate 50% Aplasia/Hypoplasia of the corpus callosum 50% Cognitive impairment 50% Frontal bossing 50% Optic atrophy 50% Pointed chin 50% Seizures 50% Thrombocytopenia 50% Ventriculomegaly 50% Wide mouth 50% Abnormality of the hip bone 7.5% Abnormality of the mitral valve 7.5% Anteverted nares 7.5% Astigmatism 7.5% Cryptorchidism 7.5% Feeding difficulties in infancy 7.5% Hearing impairment 7.5% Highly arched eyebrow 7.5% Hypertrophic cardiomyopathy 7.5% Kyphosis 7.5% Long face 7.5% Long philtrum 7.5% Macrocytic anemia 7.5% Myopia 7.5% Narrow forehead 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Otitis media 7.5% Preauricular skin tag 7.5% Proximal placement of thumb 7.5% Scoliosis 7.5% Strabismus 7.5% Thick lower lip vermilion 7.5% Triangular face 7.5% Upslanted palpebral fissure 7.5% Ventricular septal defect 7.5% Visual impairment 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) WAGR syndrome ? | WAGR syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), mental Retardation syndrome. A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11. In most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). Only rarely is the mutation inherited. |
exams and tests | How to diagnose What I need to know about Hepatitis C ? | A blood test will show if you have hepatitis C. Blood tests are done at a doctors office or outpatient facility. A blood sample is taken using a needle inserted into a vein in your arm or hand. The blood sample is sent to a lab to test for hepatitis C.
If you are at higher risk of getting hepatitis C, get tested. Many people with hepatitis C do not know they are infected.
Your doctor may suggest getting a liver biopsy if chronic hepatitis C is suspected. A liver biopsy is a test to take a small piece of your liver to look for liver damage. The doctor may ask you to stop taking certain medicines before the test. You may be asked to fast for 8 hours before the test.
During the test, you lie on a table with your right hand resting above your head. Medicine is applied to numb the area where the biopsy needle will be inserted. If needed, sedatives and pain medicine are also given. The doctor uses a needle to take a small piece of liver tissue. After the test, you must lie on your right side for up to 2 hours. You will stay 2 to 4 hours after the test before being sent home.
A liver biopsy is performed at a hospital or outpatient center by a doctor. The liver sample is sent to a special lab where a doctor looks at the tissue with a microscope and sends a report to your doctor. |
information | What is (are) progressive familial intrahepatic cholestasis ? | Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals. Signs and symptoms of PFIC typically begin in infancy and are related to bile buildup and liver disease. Specifically, affected individuals experience severe itching, yellowing of the skin and whites of the eyes (jaundice), failure to gain weight and grow at the expected rate (failure to thrive), high blood pressure in the vein that supplies blood to the liver (portal hypertension), and an enlarged liver and spleen (hepatosplenomegaly). There are three known types of PFIC: PFIC1, PFIC2, and PFIC3. The types are also sometimes described as shortages of particular proteins needed for normal liver function. Each type has a different genetic cause. In addition to signs and symptoms related to liver disease, people with PFIC1 may have short stature, deafness, diarrhea, inflammation of the pancreas (pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) in the blood. Affected individuals typically develop liver failure before adulthood. The signs and symptoms of PFIC2 are typically related to liver disease only; however, these signs and symptoms tend to be more severe than those experienced by people with PFIC1. People with PFIC2 often develop liver failure within the first few years of life. Additionally, affected individuals are at increased risk of developing a type of liver cancer called hepatocellular carcinoma. Most people with PFIC3 have signs and symptoms related to liver disease only. Signs and symptoms of PFIC3 usually do not appear until later in infancy or early childhood; rarely, people are diagnosed in early adulthood. Liver failure can occur in childhood or adulthood in people with PFIC3. |
inheritance | Is trichothiodystrophy inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
information | What is (are) pulmonary veno-occlusive disease ? | Pulmonary veno-occlusive disease (PVOD) is characterized by the blockage (occlusion) of the blood vessels that carry oxygen-rich (oxygenated) blood from the lungs to the heart (the pulmonary veins). The occlusion is caused by a buildup of abnormal fibrous tissue in the small veins in the lungs, which narrows the vessels and impairs blood flow. Because blood flow through the lungs is difficult, pressure rises in the vessels that carry blood that needs to be oxygenated to the lungs from the heart (the pulmonary arteries). Increased pressure in these vessels is known as pulmonary arterial hypertension. The problems with blood flow in PVOD also impair the delivery of oxygenated blood to the rest of the body, which leads to the signs and symptoms of the condition. Shortness of breath (dyspnea) and tiredness (fatigue) during exertion are the most common symptoms of this condition. Other common features include dizziness, a lack of energy (lethargy), difficulty breathing when lying down, and a cough that does not go away. As the condition worsens, affected individuals can develop a bluish tint to the skin (cyanosis), chest pains, fainting spells, and an accumulation of fluid in the lungs (pulmonary edema). Certain features commonly seen in people with PVOD can be identified using a test called a CT scan. One of these features, which is seen in the lungs of affected individuals, is an abnormality described as centrilobular ground-glass opacities. Affected individuals also have abnormal thickening of certain tissues in the lungs, which is described as septal lines. In addition, lymph nodes in the chest (mediastinal lymph nodes) are abnormally enlarged in people with PVOD. PVOD can begin at any age, and the blood flow problems worsen over time. Because of the increased blood pressure in the pulmonary arteries, the heart must work harder than normal to pump blood to the lungs, which can eventually lead to fatal heart failure. Most people with this severe disorder do not live more than 2 years after diagnosis. |
treatment | What are the treatments for Neutral lipid storage disease with myopathy ? | How might neutral lipid storage disease with myopathy be treated? To date, there is no treatment for the underlying metabolic problem. Current therapies include adhering to strict dietary guidelines and utilizing treatments focused on the associated symptoms. A recent study suggests that people with this condition may benefit from bezafibrate (a medication used to treat high cholesterol) treatment, particularly with respect to lipid accumulation and fat oxidative capacity. Additional studies into this therapy are needed. |
research | what research (or clinical trials) is being done for Neuromyelitis Optica ? | The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. NINDS researchers are working to better understand the process by which the immune system destroys or attacks the nerve insulating substance called myelin in autoijmune diseases or disorders. Other work focuses on strategies to repair demyelinated spinal cords, including approaches using cell transplantation. this research may lead to a grater understanding of the mechanisms responsible for damaging myelin and may ultimately provide a means to prevent and treat transverse myelitis An NINDS-funded study comparing clinical MRI and lumbar puncture of healthy individuals to those with symptoms of immune-related central nervous system damage hopes to identify processes or mechanisms to inhibit or minimize spinal tissue damage and enhance recovery mechanisms. Multiple studies are looking at ways to target different components of the immune system known to be involved in NMO spectrum disorders to allow more directly targeted treatment of this disease. |
information | What is (are) Pontocerebellar hypoplasia type 2 ? | Pontocerebellar hypoplasia type 2 (PCH2) is a rare condition that affects the development of the brain. Signs and symptoms vary but may include microcephaly, developmental delay with lack of voluntary motor development, intellectual disability and movement disorders (i.e. chorea, dystonia, and spasticity). Affected people may also experience dysphagia (difficulty swallowing), impaired vision, seizures and an inability to communicate. Children with this condition often pass away prior to age 10 years, although survival beyond age 20 years has been reported. PCH2 is caused by changes (mutations) in the TSEN54, TSEN2, TSEN34, or SEPSECS gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person. |
frequency | How many people are affected by task-specific focal dystonia ? | Task-specific focal dystonia affects an estimated 7 to 69 per million people in the general population. Musician's dystonia that is severe enough to impact performance occurs in about 1 percent of musicians. |
inheritance | Is histiocytosis-lymphadenopathy plus 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 Lowe syndrome inherited ? | This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Most X-linked disorders affect males much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In some cases of Lowe syndrome, an affected male inherits the mutation from a mother who carries one altered copy of the OCRL gene. Other cases result from new mutations in the gene and occur in males with no history of the disorder in their family. Females who carry one mutated copy of the OCRL gene do not have the characteristic features of Lowe syndrome. Most female carriers, however, have changes in the lens of the eye that can be observed with a thorough eye examination. These changes typically do not impair vision. |
inheritance | Is deafness-dystonia-optic neuronopathy syndrome inherited ? | DDON syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause DDON syndrome. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females who carry one altered copy of the TIMM8A gene are typically unaffected; however, they may develop mild hearing loss and dystonia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. |
treatment | What are the treatments for VLCAD deficiency ? | How might VLCAD deficiency be treated? Management of VLCAD deficiency depends on many factors, including the form of the condition and the specific signs and symptoms present. For example, people affected by the severe forms of the condition are typically placed on a low-fat, high-carbohydrate diet with frequent meals. Supplemental calories may be provided through medium-chain triglycerides (MCT oil). If hospitalization is necessary for acute episodes of hypoglycemia and/or metabolic crisis, intravenous glucose may be administered as an energy source. Periods of rhabdomyolysis may be treated with hydration and alkalization of the urine (decreasing the amount of acid you take in) to protect kidney function and to prevent acute kidney failure. Affected people are generally advised to avoid fasting, dehydration, and a high-fat diet. |
symptoms | What are the symptoms of Renal dysplasia-limb defects syndrome ? | What are the signs and symptoms of Renal dysplasia-limb defects syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia-limb defects syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the fibula 90% Abnormality of the palate 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the radius 90% Convex nasal ridge 90% Intrauterine growth retardation 90% Micromelia 90% Multicystic kidney dysplasia 90% Narrow mouth 90% Oligohydramnios 90% Respiratory insufficiency 90% Short stature 90% Talipes 90% Abnormality of the ribs 50% Aplasia/Hypoplasia of the cerebellum 50% Cleft upper lip 50% Humeroradial synostosis 50% Renal hypoplasia/aplasia 50% Short neck 50% Abnormality of the pinna - Absent ulna - Autosomal recessive inheritance - Clitoral hypertrophy - Cryptorchidism - Depressed nasal bridge - Fibular aplasia - High palate - Hypoplasia of the radius - Low-set ears - Maternal diabetes - Neonatal death - Phocomelia - Pneumothorax - Prominent occiput - Pulmonary hypoplasia - Renal dysplasia - Renal hypoplasia - Respiratory distress - Respiratory failure - Short metacarpal - Short ribs - Short sternum - Single umbilical artery - Talipes equinovarus - Thin ribs - Thin vermilion border - 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 granulomatosis with polyangiitis ? | The genetic basis of GPA is not well understood. Having a particular version of the HLA-DPB1 gene is the strongest genetic risk factor for developing this condition, although several other genes, some of which have not been identified, may be involved. It is likely that a combination of genetic and environmental factors lead to GPA. GPA is an autoimmune disorder. Such disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Approximately 90 percent of people with GPA have an abnormal immune protein called an anti-neutrophil cytoplasmic antibody (ANCA) in their blood. Antibodies normally bind to specific foreign particles and germs, marking them for destruction, but ANCAs attack normal human proteins. Most people with GPA have an ANCA that attacks the human protein proteinase 3 (PR3). A few affected individuals have an ANCA that attacks a protein called myeloperoxidase (MPO). When these antibodies attach to the protein they recognize, they trigger inflammation, which contributes to the signs and symptoms of GPA. The HLA-DPB1 gene belongs to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. A particular variant of the HLA-DPB1 gene called HLA-DPB1*0401 has been found more frequently in people with GPA, especially those with ANCAs, than in people without the condition. Because the HLA-DPB1 gene is involved in the immune system, changes in it might be related to the autoimmune response and inflammation in the respiratory tract and kidneys characteristic of GPA. However, it is unclear what specific role the HLA-DPB1*0401 gene variant plays in development of this condition. |
symptoms | What are the symptoms of Tularemia ? | What are the symptoms of tularemia? The symptoms of tularemia usually appear 3 to 5 days after exposure to the bacteria, but can take as long as 14 days. Symptoms may include: Fever Chills Headache Diarrhea Muscle pains Joint stiffness Dry cough Progressive weakness Sweating Weight loss People can also catch pneumonia and develop chest pain, bloody sputum and can have trouble breathing and even sometimes stop breathing. Other symptoms of tularemia depend on how a person was exposed to the tularemia bacteria. These symptoms can include ulcers on the skin or mouth, swollen and painful lymph glands, swollen and painful eyes, and a sore throat. |
symptoms | What are the symptoms of Gastritis ? | Erosive gastritis may cause ulcers or erosions in the stomach lining that can bleed. Signs and symptoms of bleeding in the stomach include
- shortness of breath - dizziness or feeling faint - red blood in vomit - black, tarry stools - red blood in the stool - weakness - paleness
A person with any signs or symptoms of bleeding in the stomach should call or see a health care provider right away.
More information is provided in the NIDDK health topic, Bleeding in the Digestive Tract. |
causes | What causes Epidermolysis bullosa acquisita ? | What causes epidermolysis bullosa acquisita? The underlying cause of epidermolysis bullosa acquisita (EBA) is not known. It is thought to be an autoimmune disorder, which means that the immune system attacks healthy cells by mistake. In EBA, certain immune proteins (usually IgG autoantibodies) mistakenly target and attack a specific type of collagen (a skin protein) involved in "anchoring" the skin. In some milder cases of EBA, the immune proteins involved are thought to be IgA, rather than IgG autoantibodies. The initiating event that leads to autoantibody production is unknown. EBA affecting several family members has been reported, suggesting a genetic component may be involved in some cases. Rarely, people with lupus, a systemic autoimmune disease, develop a generalized blistering skin disease with the features of EBA. EBA has also been associated with Crohn's disease. |
causes | What causes Pneumonia ? | Many germs can cause pneumonia. Examples include different kinds of bacteria, viruses, and, less often, fungi.
Most of the time, the body filters germs out of the air that we breathe to protect the lungs from infection. Your immune system, the shape of your nose and throat, your ability to cough, and fine, hair-like structures called cilia (SIL-e-ah) help stop the germs from reaching your lungs. (For more information, go to the Diseases and Conditions Index How the Lungs Work article.)
Sometimes, though, germs manage to enter the lungs and cause infections. This is more likely to occur if:
Your immune system is weak
A germ is very strong
Your body fails to filter germs out of the air that you breathe
For example, if you can't cough because you've had a stroke or are sedated, germs may remain in your airways. ("Sedated" means you're given medicine to make you sleepy.)
When germs reach your lungs, your immune system goes into action. It sends many kinds of cells to attack the germs. These cells cause the alveoli (air sacs) to become red and inflamed and to fill up with fluid and pus. This causes the symptoms of pneumonia.
Germs That Can Cause Pneumonia
Bacteria
Bacteria are the most common cause of pneumonia in adults. Some people, especially the elderly and those who are disabled, may get bacterial pneumonia after having the flu or even a common cold.
Many types of bacteria can cause pneumonia. Bacterial pneumonia can occur on its own or develop after you've had a cold or the flu. This type of pneumonia often affects one lobe, or area, of a lung. When this happens, the condition is called lobar pneumonia.
The most common cause of pneumonia in the United States is the bacterium Streptococcus (strep-to-KOK-us) pneumoniae, or pneumococcus (nu-mo-KOK-us).
Lobar Pneumonia
Another type of bacterial pneumonia is called atypical pneumonia. Atypical pneumonia includes:
Legionella pneumophila. This type of pneumonia sometimes is called Legionnaire's disease, and it has caused serious outbreaks. Outbreaks have been linked to exposure to cooling towers, whirlpool spas, and decorative fountains.
Mycoplasma pneumonia. This is a common type of pneumonia that usually affects people younger than 40 years old. People who live or work in crowded places like schools, homeless shelters, and prisons are at higher risk for this type of pneumonia. It's usually mild and responds well to treatment with antibiotics. However, mycoplasma pneumonia can be very serious. It may be associated with a skin rash and hemolysis (the breakdown of red blood cells).
Chlamydophila pneumoniae. This type of pneumonia can occur all year and often is mild. The infection is most common in people 65 to 79 years old.
Viruses
Respiratory viruses cause up to one-third of the pneumonia cases in the United States each year. These viruses are the most common cause of pneumonia in children younger than 5 years old.
Most cases of viral pneumonia are mild. They get better in about 1 to 3 weeks without treatment. Some cases are more serious and may require treatment in a hospital.
If you have viral pneumonia, you run the risk of getting bacterial pneumonia as well.
The flu virus is the most common cause of viral pneumonia in adults. Other viruses that cause pneumonia include respiratory syncytial virus, rhinovirus, herpes simplex virus, severe acute respiratory syndrome (SARS), and more.
Fungi
Three types of fungi in the soil in some parts of the United States can cause pneumonia. These fungi are:
Coccidioidomycosis (kok-sid-e-OY-do-mi-KO-sis). This fungus is found in Southern California and the desert Southwest.
Histoplasmosis (HIS-to-plaz-MO-sis). This fungus is found in the Ohio and Mississippi River Valleys.
Cryptococcus (krip-to-KOK-us). This fungus is found throughout the United States in bird droppings and soil contaminated with bird droppings.
Most people exposed to these fungi don't get sick, but some do and require treatment.
Serious fungal infections are most common in people who have weak immune systems due to the long-term use of medicines to suppress their immune systems or having HIV/AIDS.
Pneumocystis jiroveci (nu-mo-SIS-tis ye-RO-VECH-e), formerly Pneumocystis carinii, sometimes is considered a fungal pneumonia. However, it's not treated with the usual antifungal medicines. This type of infection is most common in people who:
Have HIV/AIDS or cancer
Have had an organ transplant and/or blood and marrow stem cell transplant
Take medicines that affect their immune systems
Other kinds of fungal infections also can lead to pneumonia. |
symptoms | What are the symptoms of Spinocerebellar ataxia 2 ? | What are the signs and symptoms of Spinocerebellar ataxia 2? Early symptoms of spinocerebellar ataxia may include uncoordinated movement (ataxia) and leg cramps. Other symptoms may include tremor; decreased muscle tone; poor tendon reflexes; abnormal eye movements; dementia; dystonia and/or chorea; muscle twitches; nerve irritation and swelling (polyneuropathy); leg weakness; difficulty swallowing; bladder dysfunction; and parkinsonism. The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 2. 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 - Bradykinesia - Dementia - Dilated fourth ventricle - Distal amyotrophy - Dysarthria - Dysdiadochokinesis - Dysmetria - Dysmetric saccades - Dysphagia - Fasciculations - Gaze-evoked nystagmus - Genetic anticipation - Hyporeflexia - Impaired horizontal smooth pursuit - Limb ataxia - Muscular hypotonia - Myoclonus - Oculomotor apraxia - Olivopontocerebellar atrophy - Ophthalmoplegia - Postural instability - Postural tremor - Progressive cerebellar ataxia - Rigidity - Rod-cone dystrophy - Slow saccadic eye movements - Spasticity - Spinocerebellar tract degeneration - Urinary bladder sphincter dysfunction - 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 Giant platelet syndrome ? | What are the signs and symptoms of Giant platelet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant platelet syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Abnormality of the abdomen - Autosomal recessive inheritance - Epistaxis - Increased mean platelet volume - Menorrhagia - Prolonged bleeding time - Purpura - 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 Mucopolysaccharidosis type IIIC ? | What are the signs and symptoms of Mucopolysaccharidosis type IIIC? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIIC. 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) Coarse hair 90% Cognitive impairment 90% Hypertrichosis 90% Malabsorption 90% Mucopolysacchariduria 90% Otitis media 90% Sleep disturbance 90% Abnormal form of the vertebral bodies 50% Abnormality of the clavicle 50% Abnormality of the hip bone 50% Abnormality of the ribs 50% Cataract 50% Craniofacial hyperostosis 50% Developmental regression 50% Genu valgum 50% Hearing impairment 50% Hypertonia 50% Incoordination 50% Limitation of joint mobility 50% Myopia 50% Opacification of the corneal stroma 50% Scoliosis 50% Seizures 50% Umbilical hernia 50% Vocal cord paresis 50% Hepatomegaly 7.5% Splenomegaly 7.5% Asymmetric septal hypertrophy - Autosomal recessive inheritance - Cellular metachromasia - Coarse facial features - Dense calvaria - Diarrhea - Dolichocephaly - Dysostosis multiplex - Dysphagia - Growth abnormality - Heparan sulfate excretion in urine - Hernia - Hirsutism - Hyperactivity - Intellectual disability - Joint stiffness - Kyphoscoliosis - Loss of speech - Motor delay - Motor deterioration - Ovoid thoracolumbar vertebrae - Recurrent upper respiratory tract infections - Rod-cone dystrophy - Synophrys - Thickened ribs - 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. |
symptoms | What are the symptoms of Idiopathic CD4 positive T-lymphocytopenia ? | What are the signs and symptoms of Idiopathic CD4 positive T-lymphocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic CD4 positive T-lymphocytopenia. 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 - Bronchiolitis obliterans organizing pneumonia - Immunodeficiency - Lymphopenia - Recurrent otitis media - Recurrent sinusitis - 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) Parasites - Trichuriasis (also known as Whipworm Infection) ? | Whipworm (Trichuris trichiura) is an intestinal parasite of humans. The larvae and adult worms live in the intestine of humans and can cause intestinal disease. The name is derived from the worm’s distinctive whip-like shape. |
information | What is (are) G6PD Deficiency ? | Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. The most common medical problem it can cause is hemolytic anemia. That happens when red blood cells are destroyed faster than the body can replace them. If you have G6PD deficiency, you may not have symptoms. Symptoms happen if your red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or stress. They may include - Paleness - Jaundice - Dark urine - Fatigue - Shortness of breath - Enlarged spleen - Rapid heart rate A blood test can tell if you have it. Treatments include medicines to treat infection, avoiding substances that cause the problem with red blood cells, and sometimes transfusions. NIH: National Library of Medicine |
information | What is (are) Hidradenocarcinoma ? | Hidradenocarcinoma is a tumor caused by the abnormal growth of cells in a sweat gland. It is a type of cancer that usually begins as a single spot (lesion) on the skin of the head or neck, but it has also been found on other parts of the body. This type of tumor typically develops in older individuals (after age 40). Each hidradenocarcinoma develops differently over time; some may stay the same size and others grow rapidly. Sometimes it may spread into nearby tissues, or to more distant parts of the body in a process called metastasis. It is not known why some hidradenocarcinomas progress rapidly while others remain stable. |
information | What is (are) Blood Disorders ? | Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells and platelets. Blood disorders affect one or more parts of the blood and prevent your blood from doing its job. They can be acute or chronic. Many blood disorders are inherited. Other causes include other diseases, side effects of medicines, and a lack of certain nutrients in your diet. Types of blood disorders include - Platelet disorders, excessive clotting, and bleeding problems, which affect how your blood clots - Anemia, which happens when your blood does not carry enough oxygen to the rest of your body - Cancers of the blood, such as leukemia and myeloma - Eosinophilic disorders, which are problems with one type of white blood cell. |
inheritance | Is familial HDL deficiency inherited ? | Familial HDL deficiency is inherited in an autosomal dominant pattern, which means an alteration in one copy of either the ABCA1 or the APOA1 gene in each cell is sufficient to cause the disorder. People with alterations in both copies of the ABCA1 gene develop the related disorder Tangier disease. |
frequency | How many people are affected by androgenetic alopecia ? | Androgenetic alopecia is a frequent cause of hair loss in both men and women. This form of hair loss affects an estimated 50 million men and 30 million women in the United States. Androgenetic alopecia can start as early as a person's teens and risk increases with age; more than 50 percent of men over age 50 have some degree of hair loss. In women, hair loss is most likely after menopause. |
symptoms | What are the symptoms of Diffuse mesangial sclerosis ? | What are the signs and symptoms of Diffuse mesangial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse mesangial sclerosis. 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) Focal segmental glomerulosclerosis 5% Autosomal recessive inheritance - Childhood onset - Diffuse mesangial sclerosis - Nephroblastoma (Wilms tumor) - Nephrotic syndrome - Progressive - Renal insufficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
inheritance | Is atelosteogenesis type 3 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. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. |
frequency | How many people are affected by sensorineural deafness and male infertility ? | The prevalence of sensorineural deafness and male infertility is unknown. |
exams and tests | How to diagnose Hypotension ? | Hypotension is diagnosed based on your medical history, a physical exam, and test results. Your doctor will want to know:
The type of hypotension you have and how severe it is
Whether an underlying condition is causing the hypotension
Specialists Involved
A primary care doctor or specialist may diagnose and treat hypotension. The type of specialist most commonly involved is a cardiologist (heart specialist).
Other specialists also may be involved, such as surgeons, nephrologists (kidney specialists), or neurologists (brain and nerve specialists).
Diagnostic Tests
Shock is a life-threatening condition that requires emergency treatment. For other types of hypotension, your doctor may recommend tests to find out how your blood pressure responds in certain situations.
The test results will help your doctor understand why you're fainting or having other symptoms.
Blood Tests
During a blood test, a small amount of blood is taken from your body. It's usually drawn from a vein in your arm using a needle. The procedure is quick and easy, although it may cause some short-term discomfort.
Blood tests can show whether anemia or low blood sugar is causing your hypotension.
EKG (Electrocardiogram)
An EKG is a simple test that detects and records your heart's electrical activity. It shows how fast your heart is beating and whether its rhythm is steady or irregular. An EKG also shows the strength and timing of electrical signals as they pass through each part of your heart.
Holter and Event Monitors
Holter and event monitors are medical devices that record your heart's electrical activity. These monitors are similar to an EKG. However, a standard EKG only records your heartbeat for a few seconds. It won't detect heart rhythm problems that don't occur during the test.
Holter and event monitors are small, portable devices. You can wear one while you do your normal daily activities. This allows the monitor to record your heart for longer periods than a standard EKG.
Echocardiography
Echocardiography (echo) is a test that uses sound waves to create a moving picture of your heart. The picture shows how well your heart is working and its size and shape.
There are several types of echo, including stress echo. This test is done as part of a stress test (see below). Stress echo usually is done to find out whether you have decreased blood flow to your heart, a sign of coronary heart disease (also called coronary artery disease).
Stress Test
Some heart problems are easier to diagnose when your heart is working hard and beating fast. During stress testing, you exercise (or are given medicine if you're unable to exercise) to make your heart work hard and beat fast while heart tests are done.
These tests may include nuclear heart scanning, echo, and positron emission tomography (PET) scanning of the heart.
Valsalva Maneuver
This is a simple test for the part of your nervous system that controls functions such as your heartbeat and the narrowing and widening of your blood vessels. If something goes wrong with this part of the nervous system, blood pressure problems may occur.
During this test, you take a deep breath and then force the air out through your lips. You will do this several times. Your heart rate and blood pressure will be checked during the test.
Tilt Table Test
This test is used if you have fainting spells for no known reason. For the test, you lie on a table that moves from a lying down to an upright position. Your doctor checks your reaction to the change in position.
Doctors use a tilt table test to diagnose orthostatic hypotension and neurally mediated hypotension (NMH). People who have NMH usually faint during this test. The test can help your doctor find any underlying brain or nerve condition. |
genetic changes | What are the genetic changes related to branchio-oculo-facial syndrome ? | Branchio-oculo-facial syndrome is caused by mutations in the TFAP2A gene. This gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2). As its name suggests, this protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2 regulates genes that are involved in several cellular processes, such as cell division and the self-destruction of cells that are no longer needed (apoptosis). This protein is critical during development before birth, particularly of the branchial arches, which form the structures of the face and neck. Most TFAP2A gene mutations that cause branchio-oculo-facial syndrome change single protein building blocks (amino acids) in the transcription factor AP-2 protein. These changes tend to occur in a region of the protein that allows it to bind to DNA. Without this function, transcription factor AP-2 cannot control the activity of genes during development, which disrupts the development of the eyes, ears, and face and causes the features of branchio-oculo-facial syndrome. |
genetic changes | What are the genetic changes related to Leydig cell hypoplasia ? | Mutations in the LHCGR gene cause Leydig cell hypoplasia. The LHCGR gene provides instructions for making a protein called the luteinizing hormone/chorionic gonadotropin receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function. The protein produced from the LHCGR gene acts as a receptor for two ligands: luteinizing hormone and a similar hormone called chorionic gonadotropin. The receptor allows the body to respond appropriately to these hormones. In males, chorionic gonadotropin stimulates the development of cells in the testes called Leydig cells, and luteinizing hormone triggers these cells to produce androgens. Androgens, including testosterone, are the hormones that control male sexual development and reproduction. In females, luteinizing hormone triggers the release of egg cells from the ovary (ovulation). Chorionic gonadotropin is produced during pregnancy and helps maintain conditions necessary for the pregnancy to continue. The LHCGR gene mutations that cause Leydig cell hypoplasia disrupt luteinizing hormone/chorionic gonadotropin receptor function, impeding the body's ability to react to these hormones. In males, the mutations result in poorly developed or absent Leydig cells and impaired production of testosterone. A lack of testosterone interferes with the development of male reproductive organs before birth and the changes that appear at puberty. Mutations that prevent the production of any functional receptor protein cause the more severe features of Leydig cell hypoplasia, and mutations that allow some receptor protein function cause milder signs and symptoms. |
information | What is (are) Glutaric acidemia type I ? | Glutaric acidemia type I (GA1) is an inherited disorder in which the body can't process certain proteins properly. People with GA1 have inadequate levels of an enzyme needed to break down certain amino acids. These amino acids and their intermediate breakdown products can accumulate, causing damage to the brain (particularly the basal ganglia, which helps control movement). Specific symptoms and severity vary, but features may include macrocephaly; difficulty moving; having jerking, rigidity, or decreased muscle tone; and/or intellectual disability. GA1 is caused by mutations in the GCDH gene and is inherited in an autosomal recessive manner. Treatment includes strict dietary control, which may limit progression of symptoms. |
frequency | How many people are affected by Hennekam syndrome ? | At least 50 cases of Hennekam syndrome have been reported worldwide. |
complications | What are the complications of Renal Artery Stenosis ? | People with RAS are at increased risk for complications resulting from loss of kidney function or atherosclerosis occurring in other blood vessels, such as
- chronic kidney disease (CKD)reduced kidney function over a period of time - coronary artery diseasenarrowing and hardening of arteries that supply blood to the heart - strokebrain damage caused by lack of blood flow to the brain - peripheral vascular diseaseblockage of blood vessels that restricts flow of blood from the heart to other parts of the body, particularly the legs
RAS can lead to kidney failure, described as end-stage renal disease when treated with blood-filtering treatments called dialysis or a kidney transplant, though this is uncommon in people who receive ongoing treatment for RAS. |
research | what research (or clinical trials) is being done for Striatonigral Degeneration ? | The NINDS supports and conducts research on disorders of the brain and nervous system such as striatonigral degeneration. This research focuses on finding ways to prevent and treat these disorders. |
frequency | How many people are affected by Canavan disease ? | While this condition occurs in people of all ethnic backgrounds, it is most common in people of Ashkenazi (eastern and central European) Jewish heritage. Studies suggest that this disorder affects 1 in 6,400 to 13,500 people in the Ashkenazi Jewish population. The incidence in other populations is unknown. |
symptoms | What are the symptoms of Filippi syndrome ? | What are the signs and symptoms of Filippi syndrome? Filippi syndrome is characterized by growth delays before and after birth, a low birth weight, and short stature. Affected individuals are also born with abnormalities of the head and facial area (craniofacial abnormalities), resulting in a distinctive facial appearance. Affected infants typically have a small head (microcephaly), a high forehead, a broad bridge of the nose, thin nostrils, an abnormally thin upper lip, and widely spaced eyes (hypertelorism). Filippi syndrome is also characterized by mild to severe intellectual disability; some affected individuals may have abnormal language and speech development, potentially resulting in an inability to speak. Abnormalities of the fingers and toes have also been reported. These may include webbing or fusion of the fingers and toes (syndactyly). The severity of the syndactyly may be variable, ranging from webbing of skin and other soft tissues to fusion of bone within the affected fingers or toes. Affected individuals can also have extra fingers and/or toes (polydactyly). In addition, the fingers and toes may appear unusually short (brachydactyly), particularly due to abnormalities of the bones within the hands and feet. Some individuals may have additional physical abnormalities including delayed bone age, incomplete closure of the roof of the mouth (cleft palate), and a dislocated elbow. In some affected males, the testes may fail to descend into the scrotum (cryptorchidism). In one report, skin and teeth abnormalities were also noted. The Human Phenotype Ontology provides the following list of signs and symptoms for Filippi 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) Clinodactyly of the 5th finger 90% Cognitive impairment 90% Cryptorchidism 90% Finger syndactyly 90% Microcephaly 90% Neurological speech impairment 90% Prominent nasal bridge 90% Short stature 90% Underdeveloped nasal alae 90% Delayed skeletal maturation 50% Frontal bossing 50% Single transverse palmar crease 50% Hypertrichosis 5% Hypodontia 5% Sparse hair 5% 2-4 toe syndactyly - Autosomal recessive inheritance - Broad forehead - Cerebellar atrophy - Decreased body weight - Dystonia - Intellectual disability - Intrauterine growth retardation - Microdontia - Optic atrophy - Postnatal growth retardation - Proptosis - Seizures - Short philtrum - Thin vermilion border - Ventricular septal defect - Visual impairment - Wide nasal bridge - 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. |
causes | What causes Jones syndrome ? | What causes Jones syndrome? The exact, underlying genetic cause of Jones syndrome is not yet known. |
treatment | What are the treatments for Graves' Disease ? | People with Graves disease have three treatment options: radioiodine therapy, medications, and thyroid surgery. Radioiodine therapy is the most common treatment for Graves disease in the United States. Graves disease is often diagnosed and treated by an endocrinologista doctor who specializes in the bodys hormone- secreting glands.
Radioiodine Therapy
In radioiodine therapy, patients take radioactive iodine-131 by mouth. Because the thyroid gland collects iodine to make thyroid hormone, it will collect the radioactive iodine from the bloodstream in the same way. Iodine-131stronger than the radioactive iodine used in diagnostic testsgradually destroys the cells that make up the thyroid gland but does not affect other body tissues.
Many health care providers use a large enough dose of iodine-131 to shut down the thyroid completely, but some prefer smaller doses to try to bring hormone production into the normal range. More than one round of radioiodine therapy may be needed. Results take time and people undergoing this treatment may not notice improvement in symptoms for several weeks or months.
People with GO should talk with a health care provider about any risks associated with radioactive iodine treatments. Several studies suggest radioiodine therapy can worsen GO in some people. Other treatments, such as prescription steroids, may prevent this complication.
Although iodine-131 is not known to cause birth defects or infertility, radioiodine therapy is not used in pregnant women or women who are breastfeeding. Radioactive iodine can be harmful to the fetus thyroid and can be passed from mother to child in breast milk. Experts recommend that women wait a year after treatment before becoming pregnant.
Almost everyone who receives radioactive iodine treatment eventually develops hypothyroidism, which occurs when the thyroid does not make enough thyroid hormone. People with hypothyroidism must take synthetic thyroid hormone, a medication that replaces their natural thyroid hormone.
Medications
Beta blockers. Health care providers may prescribe a medication called a beta blocker to reduce many of the symptoms of hyperthyroidism, such as tremors, rapid heartbeat, and nervousness. But beta blockers do not stop thyroid hormone production.
Anti-thyroid medications. Health care providers sometimes prescribe anti-thyroid medications as the only treatment for Graves disease. Anti-thyroid medications interfere with thyroid hormone production but dont usually have permanent results. Use of these medications requires frequent monitoring by a health care provider. More often, anti-thyroid medications are used to pretreat patients before surgery or radioiodine therapy, or they are used as supplemental treatment after radioiodine therapy.
Anti-thyroid medications can cause side effects in some people, including
- allergic reactions such as rashes and itching - a decrease in the number of white blood cells in the body, which can lower a persons resistance to infection - liver failure, in rare cases
In the United States, health care providers prescribe the anti-thyroid medication methimazole (Tapazole, Northyx) for most types of hyperthyroidism.
Anti-thyroid medications and pregnancy. Because pregnant and breastfeeding women cannot receive radioiodine therapy, they are usually treated with an anti-thyroid medication instead. However, experts agree that women in their first trimester of pregnancy should probably not take methimazole due to the rare occurrence of damage to the fetus.
Another anti-thyroid medication, propylthiouracil (PTU), is available for women in this stage of pregnancy or for women who are allergic to or intolerant of methimazole and have no other treatment options. Health care providers may prescribe PTU for the first trimester of pregnancy and switch to methimazole for the second and third trimesters.
Some women are able to stop taking anti-thyroid medications in the last 4 to 8 weeks of pregnancy due to the remission of hyperthyroidism that occurs during pregnancy. However, these women should continue to be monitored for recurrence of thyroid problems following delivery.
Studies have shown that mothers taking anti-thyroid medications may safely breastfeed. However, they should take only moderate doses, less than 1020 milligrams daily, of the anti-thyroid medication methimazole. Doses should be divided and taken after feedings, and the infants should be monitored for side effects.2
Women requiring higher doses of the anti-thyroid medication to control hyperthyroidism should not breastfeed.
2Ogunyemi DA. Autoimmune thyroid disease and pregnancy. emedicine website. emedicine.medscape.com/article/261913-overview. Updated March 12, 2012. Accessed April 10, 2012.
Stop your anti-thyroid medication and call your health care provider right away if you develop any of the following while taking anti-thyroid medications: - fatigue - weakness - vague abdominal pain - loss of appetite - skin rash or itching - easy bruising - yellowing of the skin or whites of the eyes, called jaundice - persistent sore throat - fever
Thyroid Surgery
Surgery is the least-used option for treating Graves disease. Sometimes surgery may be used to treat
- pregnant women who cannot tolerate anti-thyroid medications - people suspected of having thyroid cancer, though Graves disease does not cause cancer - people for whom other forms of treatment are not successful
Before surgery, the health care provider may prescribe anti-thyroid medications to temporarily bring a patients thyroid hormone levels into the normal range. This presurgical treatment prevents a condition called thyroid storma sudden, severe worsening of symptomsthat can occur when hyperthyroid patients have general anesthesia.
When surgery is used, many health care providers recommend the entire thyroid be removed to eliminate the chance that hyperthyroidism will return. If the entire thyroid is removed, lifelong thyroid hormone medication is necessary.
Although uncommon, certain problems can occur in thyroid surgery. The parathyroid glands can be damaged because they are located very close to the thyroid. These glands help control calcium and phosphorous levels in the body. Damage to the laryngeal nerve, also located close to the thyroid, can lead to voice changes or breathing problems.
But when surgery is performed by an experienced surgeon, less than 1 percent of patients have permanent complications.1 People who need help finding a surgeon can contact one of the organizations listed under For More Information.
Eye Care
The eye problems associated with Graves disease may not improve following thyroid treatment, so the two problems are often treated separately.
Eye drops can relieve dry, gritty, irritated eyesthe most common of the milder symptoms. If pain and swelling occur, health care providers may prescribe a steroid such as prednisone. Other medications that suppress the immune response may also provide relief.
Special lenses for glasses can help with light sensitivity and double vision. People with eye symptoms may be advised to sleep with their head elevated to reduce eyelid swelling. If the eyelids do not fully close, taping them shut at night can help prevent dry eyes.
In more severe cases, external radiation may be applied to the eyes to reduce inflammation. Like other types of radiation treatment, the benefits are not immediate; most people feel relief from symptoms 1 to 2 months after treatment.
Surgery may be used to improve bulging of the eyes and correct the vision changes caused by pressure on the optic nerve. A procedure called orbital decompression makes the eye socket bigger and gives the eye room to sink back to a more normal position. Eyelid surgery can return retracted eyelids to their normal position. |
research | what research (or clinical trials) is being done for Landau-Kleffner Syndrome ? | The NINDS supports broad and varied programs of research on epilepsy and developmental disorders. This research is aimed at discovering new ways to prevent, diagnose, and treat epilepsy and developmental disorders and, ultimately, to find cures for them. |
treatment | What are the treatments for Central Cord Syndrome ? | There is no cure for central cord syndrome although some people recover near-normal function. There is no standard course of treatment, although drug therapy, surgery, and rest are often part of the program. Magnetic resonance imaging (MRI) is used to indicate the degree of spinal cord compression and vertebral instability. Vertebral instability due to acute traumatic injury or cervical disc herniation is often treated by surgery to prevent further damage to the spinal cord. Recent reports indicate that earlier surgery may improve chances for recovery. Numerous recent studies suggest that surgery also can be beneficial in individuals with persistent compression of the spinal cord and ongoing neurological deterioration. |
exams and tests | How to diagnose Amyloidosis corneal ? | Is genetic testing available for lattice corneal dystrophy? Yes. GeneTests lists the names of laboratories that are performing genetic testing for lattice corneal dystrophy. 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. To view the contact information for the clinical laboratories, conducting testing for lattice dystrophy type 1 and 3a click here. To access the contact information for the research laboratories performing genetic testing for lattice dystrophy type 3 click here. |
inheritance | Is isolated lissencephaly sequence inherited ? | The inheritance pattern of ILS depends on the gene involved. When ILS is caused by mutations in the PAFAH1B1 or TUBA1A gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. When mutations in the DCX gene cause ILS, it is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the DCX gene in each cell is sufficient to cause the condition. In females, who have two copies of the X chromosome, one altered copy of the DCX gene in each cell can lead to a less severe condition in females called subcortical band heterotopia, or may cause no symptoms at all. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. |
information | What is (are) Waardenburg syndrome ? | Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family. The four known types of Waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the upper limbs in addition to hearing loss and changes in pigmentation. Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. |
information | What is (are) Catamenial pneumothorax ? | Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax. Treatment is with hormones and surgery. |
treatment | What are the treatments for Langerhans Cell Histiocytosis ? | Key Points
- There are different types of treatment for patients with Langerhans cell histiocytosis (LCH). - Children with LCH should have their treatment planned by a team of health care providers who are experts in treating childhood cancer. - Some cancer treatments cause side effects months or years after treatment for childhood cancer has ended. - Nine types of standard treatment are used: - Chemotherapy - Surgery - Radiation therapy - Photodynamic therapy - Biologic therapy - Targeted therapy - Other drug therapy - Stem cell transplant - Observation - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their treatment. - When treatment of LCH stops, new lesions may appear or old lesions may come back. - Follow-up tests may be needed.
There are different types of treatment for patients with Langerhans cell histiocytosis (LCH).
Different types of treatments are available for patients with LCH. 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. Whenever possible, patients should take part in a clinical trial in order to receive new types of treatment for LCH. Some clinical trials are open only to patients who have not started treatment. Clinical trials are taking place in many parts of the country. Information about ongoing clinical trials is available from the NCI website. Choosing the most appropriate treatment is a decision that ideally involves the patient, family, and health care team.
Children with LCH should have their treatment planned by a team of health care providers who are experts in treating childhood cancer.
Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other pediatric healthcare providers who are experts in treating children with LCH and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Primary care physician. - Pediatric surgeon. - Pediatric hematologist. - Radiation oncologist. - Neurologist. - Endocrinologist. - Pediatric nurse specialist. - Rehabilitation specialist. - Psychologist. - Social worker.
Some cancer treatments cause side effects months or years after treatment for childhood cancer has ended.
Side effects from cancer treatment that begin during or after treatment and continue for months or years are called late effects. Late effects of cancer treatment may include the following: - Slow growth and development. - Hearing loss. - Bone, tooth, liver, and lung problems. - Changes in mood, feeling, learning, thinking, or memory. - Second cancers, such as leukemia, retinoblastoma, Ewing sarcoma, brain or liver cancer. 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.) Many patients with multisystem LCH have late effects caused by treatment or by the disease itself. These patients often have long-term health problems that affect their quality of life.
Nine 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 onto the skin or 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). Chemotherapy agents given by injection or by mouth are used to treat LCH. Chemotherapy agents include vinblastine, cytarabine, cladribine, and methotrexate. Nitrogen mustard is a drug that is put directly on the skin to treat small LCH lesions. Surgery Surgery may be used to remove LCH lesions and a small amount of nearby healthy tissue. Curettage is a type of surgery that uses a curette (a sharp, spoon-shaped tool) to scrape LCH cells from bone. When there is severe liver or lung damage, the entire organ may be removed and replaced with a healthy liver or lung from a donor. 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. External radiation therapy uses a machine outside the body to send radiation toward the cancer. In LCH, a special lamp may be used to send ultraviolet B (UVB) radiation toward LCH skin lesions. Photodynamic therapy Photodynamic therapy is a cancer treatment that uses a drug and a certain type of laser light to kill cancer cells. A drug that is not active until it is exposed to light is injected into a vein. The drug collects more in cancer cells than in normal cells. For LCH, laser light is aimed at the skin and the drug becomes active and kills the cancer cells. Photodynamic therapy causes little damage to healthy tissue. Patients who have photodynamic therapy should not spend too much time in the sun. In one type of photodynamic therapy, called psoralen and ultraviolet A (PUVA) therapy, the patient receives a drug called psoralen and then ultraviolet A radiation is directed to the skin. Biologic therapy Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Interferon is a type of biologic therapy used to treat LCH of the skin. Immunomodulators are also a type of biologic therapy. Thalidomide is an immunomodulator used to treat LCH. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to find and attack LCH cells without harming normal cells. Imatinib mesylate is a type of targeted therapy called a tyrosine kinase inhibitor. It stops blood stem cells from turning into dendritic cells that may become cancer cells. Other types of kinase inhibitors that affect cells with mutations (changes) in the BRAF gene, such as dabrafenib and vemurafenib, are being studied in clinical trials for LCH. A family of genes, called ras genes, may cause cancer when they are mutated. Ras genes make proteins that are involved in cell signaling pathways, cell growth, and cell death. Ras pathway inhibitors are a type of targeted therapy being studied in clinical trials. They block the actions of a mutated ras gene or its protein and may stop the growth of cancer. Other drug therapy Other drugs used to treat LCH include the following: - Steroid therapy, such as prednisone, is used to treat LCH lesions. - Bisphosphonate therapy (such as pamidronate, zoledronate, or alendronate) is used to treat LCH lesions of the bone and to lessen bone pain. - Nonsteroidal anti-inflammatory drugs (NSAIDs) are drugs (such as aspirin and ibuprofen) that are commonly used to decrease fever, swelling, pain, and redness. Sometimes an NSAID called indomethacin is used to treat LCH. - Retinoids, such as isotretinoin, are drugs related to vitamin A that can slow the growth of LCH cells in the skin. The retinoids are taken by mouth. Stem cell transplant Stem cell transplant is a method of giving chemotherapy and replacing blood-forming cells destroyed by the LCH treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the 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. Observation Observation is closely monitoring a patient's condition without giving any treatment until signs or symptoms appear or change.
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 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 for Childhood LCH and the Treatment Options for Adult LCH sections for links to current treatment clinical trials. These have been retrieved from NCI's clinical trials database.
When treatment of LCH stops, new lesions may appear or old lesions may come back.
Many patients with LCH get better with treatment. However, when treatment stops, new lesions may appear or old lesions may come back. This is called reactivation (recurrence) and may occur within one year after stopping treatment. Patients with multisystem disease are more likely to have a reactivation. More common sites of reactivation are bone, ears, or skin. Diabetes insipidus also may develop. Less common sites of reactivation include lymph nodes, bone marrow, spleen, liver, or lung. Some patients may have more than one reactivation over a number of years.
Follow-up tests may be needed.
Some of the tests that were done to diagnose LCH may be repeated. This is to see how well the treatment is working and if there are any new lesions. These tests may include: - Physical exam. - Neurological exam. - Ultrasound exam. - MRI. - CT scan. - PET scan. Other tests that may be needed include: - Brain stem auditory evoked response (BAER) test: A test that measures the brain's response to clicking sounds or certain tones. - Pulmonary function test (PFT): A test to see how well the lungs are working. It measures how much air the lungs can hold and how quickly air moves into and out of the lungs. It also measures how much oxygen is used and how much carbon dioxide is given off during breathing. This is also called a lung function test. - 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. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.
Treatment Options for LCH in Children
Treatment of Low-Risk Disease in Children
Skin Lesions Treatment of childhood Langerhans cell histiocytosis (LCH) skin lesions may include the following: - Observation. When severe rashes, pain, ulceration, or bleeding occur, treatment may include the following: - Steroid therapy. - Chemotherapy, given by mouth. - Nitrogen mustard applied to the skin. - Photodynamic therapy with psoralen and ultraviolet A (PUVA) therapy. - UVB radiation therapy. Lesions in Bones or Other Low-Risk Organs Treatment of childhood LCH bone lesions in the front, sides, or back of the skull, or in any other single bone may include the following: - Surgery (curettage) with or without steroid therapy. - Low-dose radiation therapy for lesions that affect nearby organs. Treatment of childhood LCH lesions in bones around the ears or eyes is done to lower the risk of diabetes insipidus and other long-term problems. Treatment may include: - Chemotherapy and steroid therapy. - Surgery (curettage). Treatment of childhood LCH lesions of the spine or thigh bone lesions may include: - Observation. - Low-dose radiation therapy. - Chemotherapy, for lesions that spread from the spine into nearby tissue. - Surgery to strengthen the weakened bone by bracing or fusing the bones together. Treatment of two or more bone lesions may include: - Chemotherapy and steroid therapy. Treatment of two or more bone lesions combined with childhood LCH skin lesions, lymph node lesions, or diabetes insipidus may include: - Chemotherapy with or without steroid therapy. - Bisphosphonate therapy.
Treatment of High-Risk Disease in Children
Treatment of childhood LCH multisystem disease lesions in the spleen, liver, or bone marrow (with or without skin, bone, lymph node, lung, or pituitary gland lesions) may include: - Chemotherapy and steroid therapy. Higher doses of combination chemotherapy and steroid therapy may be given to patients whose tumors do not respond to initial chemotherapy. - A liver transplant for patients with severe liver damage. Treatment of childhood LCH central nervous system (CNS) lesions may include: - Chemotherapy with or without steroid therapy. - Steroid therapy. Treatment of LCH CNS neurodegenerative syndrome may include: - Retinoid therapy. - Chemotherapy.
Treatment Options for Recurrent, Refractory, and Progressive Childhood LCH in Children
Recurrent LCH is cancer that cannot be detected for some time after treatment and then comes back. Treatment of recurrent childhood LCH in the skin, bone, lymph nodes, gastrointestinal tract, pituitary gland, or central nervous system (low-risk organs) may include: - Chemotherapy with or without steroid therapy. - Bisphosphonate therapy. - Nonsteroidal anti-inflammatory drug (NSAID) therapy with indomethacin. - A clinical trial of a targeted therapy. Refractory LCH is cancer that does not get better with treatment. Treatment of refractory childhood LCH in high-risk organs and in multisystem low-risk organs may include high-dose chemotherapy. Treatment of childhood LCH in multisystem high-risk organs that did not respond to chemotherapy may include stem cell transplant. Progressive LCH is cancer that continues to grow during treatment. Treatment of progressive childhood LCH in patients with multisystem disease may include anticancer drugs that have not been given to the patient before.
Treatment Options for LCH in Adults
Treatment Options for LCH of the Lung in Adults
Treatment for LCH of the lung in adults may include: - Quitting smoking for all patients who smoke. Lung damage will get worse over time in patients who do not quit smoking. In patients who quit smoking, lung damage may get better or it may get worse over time. - Chemotherapy. - Lung transplant for patients with severe lung damage. Sometimes LCH of the lung will go away or not get worse even if it's not treated.
Treatment Options for LCH of the Bone in Adults
Treatment for LCH that affects only the bone in adults may include: - Surgery with or without steroid therapy. - Chemotherapy with or without low-dose radiation therapy. - Radiation therapy. - Bisphosphonate therapy, for severe bone pain.
Treatment Options for LCH of the Skin in Adults
Treatment for LCH that affects only the skin in adults may include: - Surgery. - Steroid or other drug therapy applied or injected into the skin. - Photodynamic therapy with psoralen and ultraviolet A (PUVA) radiation. - UVB radiation therapy. - Chemotherapy or biologic therapy given by mouth, such as methotrexate, thalidomide, or interferon. - Retinoid therapy may be used if the skin lesions do not get better with other treatment. Treatment for LCH that affects the skin and other body systems in adults may include: - Chemotherapy.
Treatment Options for Single-System and Multisystem LCH in Adults
Treatment of single-system and multisystem disease in adults may include: - Chemotherapy with or without a drug given to weaken the immune system. - Bisphosphonate therapy, for severe bone pain. - A clinical trial of a targeted therapy. |
symptoms | What are the symptoms of Malaria ? | What are the signs and symptoms of Malaria? The Human Phenotype Ontology provides the following list of signs and symptoms for Malaria. 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 - 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 recurrent hydatidiform mole ? | Mutations in the NLRP7 or KHDC3L gene can cause recurrent hydatidiform mole, with NLRP7 gene mutations being the most common cause. Within egg cells (oocytes), both the NLRP7 and KHDC3L proteins are thought to play a role in turning off (inactivating) certain genes based on which parent the copy of the gene came from, a phenomenon known as genomic imprinting. For most genes, both copies of the gene (one copy inherited from each parent) are active in all cells. For a small subset of genes, however, only one of the two copies is active; for some of these genes, the copy from the father is normally active, while for others, the copy from the mother is normally active. The NLRP7 and KHDC3L proteins are likely involved in imprinting multiple maternal genes in oocytes, ensuring that they will be inactive in the developing embryo; the corresponding paternal genes are active. NLRP7 or KHDC3L gene mutations result in the production of proteins with impaired function. As a result, multiple genes that contribute to a developing embryo are not imprinted properly, leading to abnormal gene activity (expression) in all pregnancies. Because many genes that would normally be inactive are instead active, embryonic development is impaired, resulting in a hydatidiform mole. The NLRP7 protein has also been found to play a role in cell growth and division (proliferation) and cell maturation (differentiation). Research suggests that the NLRP7 protein plays an additional role in immune responses by regulating the release of an immune protein called interleukin-1 beta. Normally, the immune system would recognize a hydatidiform mole as a non-growing pregnancy or foreign tissue and signal the body to remove it. Because the impaired NLRP7 protein slows interleukin-1 beta release, the body cannot trigger an immune response to the abnormal pregnancy. Instead, the hydatidiform mole remains in the body. The cause of the retention of the pregnancy in women with KHDC3L gene mutations is unclear. In some cases of recurrent hydatidiform mole, no mutations in either of these genes have been identified. In these instances, the cause of the condition is unknown. When there is only a single instance of hydatidiform mole, it is often caused by abnormal fertilization of an egg. In sporadic hydatidiform mole, the embryo either receives genetic information only from sperm cells because the egg has no DNA-containing nucleus, or the embryo receives too much genetic information because two sperm cells fertilized one egg. |
symptoms | What are the symptoms of Ectodermal dysplasia adrenal cyst ? | What are the signs and symptoms of Ectodermal dysplasia adrenal cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia adrenal cyst. 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 endocrine system - Autosomal dominant inheritance - Breast hypoplasia - Delayed eruption of teeth - Ectodermal dysplasia - Hypohidrosis - Hypoplastic nipples - Nail dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
research | what research (or clinical trials) is being done for Sotos Syndrome ? | The NINDS supports and conducts a wide range of studies which focus on identifying and learning more about the genes involved in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, may eventually give clues to understanding disorders such as Sotos syndrome. |
treatment | What are the treatments for Stroke ? | Generally there are three treatment stages for stroke: prevention, therapy immediately after the stroke, and post-stroke rehabilitation. Therapies to prevent a first or recurrent stroke are based on treating an individual's underlying risk factors for stroke, such as hypertension, atrial fibrillation, and diabetes. Acute stroke therapies try to stop a stroke while it is happening by quickly dissolving the blood clot causing an ischemic stroke or by stopping the bleeding of a hemorrhagic stroke. Post-stroke rehabilitation helps individuals overcome disabilities that result from stroke damage. Medication or drug therapy is the most common treatment for stroke. The most popular classes of drugs used to prevent or treat stroke are antithrombotics (antiplatelet agents and anticoagulants) and thrombolytics. |
treatment | What are the treatments for Gitelman syndrome ? | These resources address the diagnosis or management of Gitelman syndrome: - Genetic Testing Registry: Familial hypokalemia-hypomagnesemia 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 |
research | what research (or clinical trials) is being done for Niemann-Pick Disease ? | The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts and supports research about Niemann-Pick disease through research grants to research institutions across the country. Investigators at the NINDS have identified two different genes that, when defective, contribute to Niemann-Pick disease type C. NINDS scientists are studying the mechanisms by which lipids accumulating in these storage diseases causes harm to the body. Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for the lipid storage disorders. |
treatment | What are the treatments for benign chronic pemphigus ? | These resources address the diagnosis or management of benign chronic pemphigus: - American Osteopathic College of Dermatology - Genetic Testing Registry: Familial benign pemphigus 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 |
considerations | What to do for Simple Kidney Cysts ? | - Simple kidney cysts are abnormal, fluid-filled sacs that form in the kidneys. - Simple kidney cysts usually do not cause symptoms or harm the kidneys. - Most simple kidney cysts are found during imaging tests done for other reasons. - Treatment is not needed for simple kidney cysts that do not cause any symptoms. - Simple kidney cysts that are causing symptoms or blocking the flow of blood or urine through the kidney may need to be treated using sclerotherapy or surgery. |
stages | What are the stages of Melanoma ? | Key Points
- After melanoma has been diagnosed, tests are done to find out if cancer cells have spread within the skin 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 method used to stage melanoma is based mainly on the thickness of the tumor and whether cancer has spread to lymph nodes or other parts of the body. - The following stages are used for melanoma: - Stage 0 (Melanoma in Situ) - Stage I - Stage II - Stage III - Stage IV
After melanoma has been diagnosed, tests are done to find out if cancer cells have spread within the skin or to other parts of the body.
The process used to find out whether cancer has spread within the skin 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: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Lymph node mapping and sentinel lymph node biopsy : Procedures in which a radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through lymph ducts to the sentinel node or nodes (the first lymph node or nodes where cancer cells are likely to spread). The surgeon removes only the nodes with the radioactive substance or dye. A pathologist views a sample of tissue under a microscope to check for cancer cells. If no cancer cells are found, it may not be necessary to remove more nodes. - 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. For melanoma, pictures may be taken of the chest, abdomen, and pelvis. - 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) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the brain. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. For melanoma, the blood is checked for an enzyme called lactate dehydrogenase (LDH). LDH levels that are higher than normal may be a sign of melanoma. The results of these tests are viewed together with the results of the tumor biopsy to find out the stage of the melanoma.
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 melanoma spreads to the lung, the cancer cells in the lung are actually melanoma cells. The disease is metastatic melanoma, not lung cancer.
The method used to stage melanoma is based mainly on the thickness of the tumor and whether cancer has spread to lymph nodes or other parts of the body.
The staging of melanoma depends on the following: - The thickness of the tumor. The thickness is described using the Breslow scale. - Whether the tumor is ulcerated (has broken through the skin). - Whether the tumor has spread to the lymph nodes and if the lymph nodes are joined together (matted). - Whether the tumor has spread to other parts of the body.
The following stages are used for melanoma:
Stage 0 (Melanoma in Situ) In stage 0, abnormal melanocytes are found in the epidermis. These abnormal melanocytes may become cancer and spread into nearby normal tissue. Stage 0 is also called melanoma in situ. Stage I In stage I, cancer has formed. Stage I is divided into stages IA and IB. - Stage IA: In stage IA, the tumor is not more than 1 millimeter thick, with no ulceration. - Stage IB: In stage IB, the tumor is either: - not more than 1 millimeter thick and it has ulceration; or - more than 1 but not more than 2 millimeters thick, with no ulceration. Stage II Stage II is divided into stages IIA, IIB, and IIC. - Stage IIA: In stage IIA, the tumor is either: - more than 1 but not more than 2 millimeters thick, with ulceration; or - more than 2 but not more than 4 millimeters thick, with no ulceration. - Stage IIB: In stage IIB, the tumor is either: - more than 2 but not more than 4 millimeters thick, with ulceration; or - more than 4 millimeters thick, with no ulceration. - Stage IIC: In stage IIC, the tumor is more than 4 millimeters thick, with ulceration. Stage III In stage III, the tumor may be any thickness, with or without ulceration. One or more of the following is true: - Cancer has spread to one or more lymph nodes. - Lymph nodes are joined together (matted). - Cancer is in a lymph vessel between the primary tumor and nearby lymph nodes. The cancer is more than 2 centimeters away from the primary tumor. - Very small tumors are found on or under the skin, not more than 2 centimeters away from the primary tumor. Stage IV In stage IV, the cancer has spread to other places in the body, such as the lung, liver, brain, bone, soft tissue, or gastrointestinal (GI) tract. Cancer may have spread to places in the skin far away from where it first started. |
information | What is (are) Hennekam syndrome ? | Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. The characteristic signs and symptoms of Hennekam syndrome are lymphatic vessels that are abnormally expanded (lymphangiectasia), particularly the vessels that transport lymph fluid to and from the intestines; puffiness or swelling caused by a buildup of fluid (lymphedema); and unusual facial features. Lymphangiectasia often impedes the flow of lymph fluid and can cause the affected vessels to break open (rupture). In the intestines, ruptured vessels can lead to accumulation of lymph fluid, which interferes with the absorption of nutrients, fats, and proteins. Accumulation of lymph fluid in the abdomen can cause swelling (chylous ascites). Lymphangiectasia can also affect the kidneys, thyroid gland, the outer covering of the lungs (the pleura), the membrane covering the heart (pericardium), or the skin. The lymphedema in Hennekam syndrome is often noticeable at birth and usually affects the face and limbs. Severely affected infants may have extensive swelling caused by fluid accumulation before birth (hydrops fetalis). The lymphedema usually affects one side of the body more severely than the other (asymmetric) and slowly worsens over time. Facial features of people with Hennekam syndrome may include a flattened appearance to the middle of the face and the bridge of the nose, puffy eyelids, widely spaced eyes (hypertelorism), small ears, and a small mouth with overgrowth of the gums (gingival hypertrophy). Affected individuals may also have an unusually small head (microcephaly) and premature fusion of the skull bones (craniosynostosis). Individuals with Hennekam syndrome often have intellectual disability that ranges from mild to severe, although most are on the mild end of the range and some have normal intellect. Many individuals with Hennekam syndrome have growth delay, respiratory problems, permanently bent fingers and toes (camptodactyly), or fusion of the skin between the fingers and toes (cutaneous syndactyly). Abnormalities found in a few individuals with Hennekam syndrome include a moderate to severe shortage of red blood cells (anemia) resulting from an inadequate amount (deficiency) of iron in the bloodstream, multiple spleens (polysplenia), misplaced kidneys, genital anomalies, a soft out-pouching around the belly-button (umbilical hernia), heart abnormalities, hearing loss, excessive body hair growth (hirsutism), a narrow upper chest that may have a sunken appearance (pectus excavatum), an abnormal side-to-side curvature of the spine (scoliosis), and inward- and upward-turning feet (clubfeet). The signs and symptoms of Hennekam syndrome vary widely among affected individuals, even those within the same family. Life expectancy depends on the severity of the condition and can vary from death in childhood to survival into adulthood. |
symptoms | What are the symptoms of Malignant hyperthermia susceptibility type 3 ? | What are the signs and symptoms of Malignant hyperthermia susceptibility type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Malignant hyperthermia susceptibility type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alcohol-induced rhabdomyolysis - Anesthetic-induced rhabdomylosis - Elevated serum creatine phosphokinase - Exercise-induced rhabdomyolysis - Fever - Heterogeneous - Hyperkalemia - Hyperphosphatemia - Hypertonia - Lactic acidosis - Malignant hyperthermia - Myopathy - Viral infection-induced rhabdomyolysis - 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 Anophthalmia plus syndrome ? | How is anophthalmia plus syndrome diagnosed? A review of the available medical literature does not currently yield information about specific diagnostic criteria for anophthalmia plus syndrome (APS). Because APS is so rarely reported, specific diagnostic criteria may not exist. Anophthalmia and/or microphthalmia with oral-facial clefting occurs in a number of known syndromes; however, the other known syndromes typically have specific other features (such as limb abnormalities, deafness or other organ anomalies). A diagnosis of APS may be considered when an individual has the signs and symptoms most commonly reported in affected individuals, but other known syndromes with overlapping features have been ruled out. |
information | What is (are) Problems with Smell ? | Our sense of smell helps us enjoy life. We delight in the aromas of our favorite foods or the fragrance of flowers. Our sense of smell also is a warning system, alerting us to danger signals such as a gas leak, spoiled food, or a fire. Any loss in our sense of smell can have a negative effect on our quality of life. It also can be a sign of more serious health problems. Aging and Smell Loss Problems with smell increase as people get older, and they are more common in men than women. In one study, nearly one-quarter of men ages 6069 had a smell disorder, while about 11 percent of women in that age range reported a problem. Many older people are not even aware that they have a problem with their sense of smell because the changes occur gradually over several years. They may not even notice that they are experiencing a loss of smell until there is an incident in which they don't detect food that has spoiled or the presence of dangerous smoke. How Our Sense of Smell Works The sense of smell, or olfaction, is part of our chemical sensing system, along with the sense of taste. Normal smell occurs when odors around us, like the fragrance of flowers or the smell of baking bread, stimulate the specialized sensory cells, called olfactory sensory cells. Olfactory sensory cells are located in a small patch of tissue high inside the nose. Odors reach the olfactory sensory cells in two pathways. The first pathway is by inhaling, or sniffing, through your nose. When people think about smell, they generally think of this pathway. The second pathway is less familiar. It is a channel that connects the roof of the throat region to the nose. When we chew our food, aromas are released that access olfactory sensory cells through this channel. If you are congested due to a head cold or sinus infection, this channel is blocked, which temporarily affects your ability to appreciate the flavors of food. Types of Smell Disorders People who experience smell disorders either have a decrease in their ability to smell or changes in the way they perceive odors. Total smell loss is relatively rare, but a decrease in the sense of smell occurs more often, especially in older adults. A decreased sense of smell may be temporary and treatable with medication. There are several types of smell disorders depending on how the sense of smell is affected. - Some people have hyposmia, which occurs when their ability to detect certain odors is reduced. - Other people can't detect odor at all, which is called anosmia. - Sometimes a loss of smell can be accompanied by a change in the perception of odors. This type of smell disorder is called dysosmia. Familiar odors may become distorted, or an odor that usually smells pleasant instead smells foul. - Still others may perceive a smell that isn't present at all, which is called phantosmia. - Smell loss due to aging is called presbyosmia. Some people have hyposmia, which occurs when their ability to detect certain odors is reduced. Other people can't detect odor at all, which is called anosmia. Sometimes a loss of smell can be accompanied by a change in the perception of odors. This type of smell disorder is called dysosmia. Familiar odors may become distorted, or an odor that usually smells pleasant instead smells foul. Still others may perceive a smell that isn't present at all, which is called phantosmia. Smell loss due to aging is called presbyosmia. Smell Loss May Signal Other Conditions Problems with our chemical senses may be a sign of other serious health conditions. A smell disorder can be an early sign of Parkinsons disease, Alzheimers disease, or multiple sclerosis. It can also be related to other medical conditions, such as obesity, diabetes, hypertension, and malnutrition. Getting a diagnosis early will help an individual deal better with the underlying condition or disease. Smell and Taste Smell and taste are closely linked in the brain, but are actually distinct sensory systems. True tastes are detected by taste buds on the tongue and the roof of the mouth, as well as in the throat region, and are limited to sweet, salty, sour, bitter, savory and perhaps a few other sensations. The loss of smell is much more common than the loss of taste, and many people mistakenly believe they have a problem with taste, when they are really experiencing a problem with their sense of smell. A loss in taste or smell is diagnosed by your doctor using special taste and smell tests. Smell Loss and Eating Habits When smell is impaired, people usually have problems appreciating the subtle flavors of food, and say that food is less enjoyable. Some people change their eating habits. Some may eat too little and lose weight while others may eat too much and gain weight. Either way, there may be a long-term impact on one's overall health. Loss of smell may also cause us to eat too much sugar or salt to make our food taste better. This can be a problem for people with certain medical conditions, such as diabetes or high blood pressure. In severe cases, loss of smell can lead to depression. Hazards of Smell Loss Research shows that people with a total or partial loss of smell are almost twice as likely as people with normal smell to have certain kinds of accidents. The most common types of accidents in order of frequency involve - cooking - eating or drinking spoiled foods or toxic substances - failing to detect gas leaks or fires cooking eating or drinking spoiled foods or toxic substances failing to detect gas leaks or fires If you think you have a problem with your sense of smell, see your doctor. |
symptoms | What are the symptoms of Congenital alopecia X-linked ? | What are the signs and symptoms of Congenital alopecia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital alopecia X-linked. 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 eye 90% Abnormality of the skin 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Hypotrichosis - X-linked 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. |
stages | What are the stages of Male Breast Cancer ? | Key Points
- After breast cancer has been diagnosed, tests are done to find out if cancer cells have spread within the breast 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 male breast cancer: - Stage 0 (carcinoma in situ) - Stage I - Stage II - Stage IIIA - Stage IIIB - Stage IIIC - Stage IV
After breast cancer has been diagnosed, tests are done to find out if cancer cells have spread within the breast or to other parts of the body.
After breast cancer has been diagnosed, tests are done to find out if cancer cells have spread within the breast or to other parts of the body. This process 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. Breast cancer in men is staged the same as it is in women. The spread of cancer from the breast to lymph nodes and other parts of the body appears to be similar in men and women. The following tests and procedures may be used in the staging process: - Sentinel lymph node biopsy : The removal of the sentinel lymph node during surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. A radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are not found, it may not be necessary to remove more lymph nodes. - 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. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner. - 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.
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 breast cancer spreads to the bone, the cancer cells in the bone are actually breast cancer cells. The disease is metastatic breast cancer, not bone cancer.
The following stages are used for male breast cancer:
This section describes the stages of breast cancer. The breast cancer stage is based on the results of testing that is done on the tumor and lymph nodes removed during surgery and other tests. Stage 0 (carcinoma in situ) There are 3 types of breast carcinoma in situ: - Ductal carcinoma in situ (DCIS) is a noninvasive condition in which abnormal cells are found in the lining of a breast duct. The abnormal cells have not spread outside the duct to other tissues in the breast. In some cases, DCIS may become invasive cancer and spread to other tissues. At this time, there is no way to know which lesions could become invasive. - Paget disease of the nipple is a condition in which abnormal cells are found in the nipple only. - Lobular carcinoma in situ (LCIS) is a condition in which abnormal cells are found in the lobules of the breast. This condition has not been seen in men. Stage I In stage I, cancer has formed. Stage I is divided into stages IA and IB. - In stage IA, the tumor is 2 centimeters or smaller. Cancer has not spread outside the breast. - In stage IB, small clusters of breast cancer cells (larger than 0.2 millimeter but not larger than 2 millimeters) are found in the lymph nodes and either: - no tumor is found in the breast; or - the tumor is 2 centimeters or smaller. Stage II Stage II is divided into stages IIA and IIB. - In stage IIA - no tumor is found in the breast or the tumor is 2 centimeters or smaller. Cancer (larger than 2 millimeters) is found in 1 to 3 axillary lymph nodes or in the lymph nodes near the breastbone (found during a sentinel lymph node biopsy); or - the tumor is larger than 2 centimeters but not larger than 5 centimeters. Cancer has not spread to the lymph nodes. - In stage IIB, the tumor is: - larger than 2 centimeters but not larger than 5 centimeters. Small clusters of breast cancer cells (larger than 0.2 millimeter but not larger than 2 millimeters) are found in the lymph nodes; or - larger than 2 centimeters but not larger than 5 centimeters. Cancer has spread to 1 to 3 axillary lymph nodes or to the lymph nodes near the breastbone (found during a sentinel lymph node biopsy); or - larger than 5 centimeters. Cancer has not spread to the lymph nodes. Stage IIIA In stage IIIA: - no tumor is found in the breast or the tumor may be any size. Cancer is found in 4 to 9 axillary lymph nodes or in the lymph nodes near the breastbone (found during imaging tests or a physical exam); or - the tumor is larger than 5 centimeters. Small clusters of breast cancer cells (larger than 0.2 millimeter but not larger than 2 millimeters) are found in the lymph nodes; or - the tumor is larger than 5 centimeters. Cancer has spread to 1 to 3 axillary lymph nodes or to the lymph nodes near the breastbone (found during a sentinel lymph node biopsy). Stage IIIB In stage IIIB, the tumor may be any size and cancer has spread to the chest wall and/or to the skin of the breast and caused swelling or an ulcer. Also, cancer may have spread to : - up to 9 axillary lymph nodes; or - the lymph nodes near the breastbone. Cancer that has spread to the skin of the breast may also be inflammatory breast cancer. See the section on Inflammatory Male Breast Cancer for more information. Stage IIIC In stage IIIC, no tumor is found in the breast or the tumor may be any size. Cancer may have spread to the skin of the breast and caused swelling or an ulcer and/or has spread to the chest wall. Also, cancer has spread to: - 10 or more axillary lymph nodes; or - lymph nodes above or below the collarbone; or - axillary lymph nodes and lymph nodes near the breastbone. Cancer that has spread to the skin of the breast may also be inflammatory breast cancer. See the section on Inflammatory Male Breast Cancer for more information. For treatment, stage IIIC breast cancer is divided into operable and inoperable stage IIIC. Stage IV In stage IV, cancer has spread to other organs of the body, most often the bones, lungs, liver, or brain. |
information | What is (are) Rotor syndrome ? | Rotor syndrome is an inherited disorder characterized by elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down, and has an orange-yellow tint. The buildup of bilirubin in the body causes yellowing of the skin or whites of the eyes (jaundice), which is the only symptom of the disorder. Jaundice is usually evident in infancy or early childhood, and it may come and go. Rotor syndrome is caused by having mutations in both the SLCO1B1 and SLCO1B3 genes and is inherited in an autosomal recessive manner. The disorder is generally considered benign, and no treatment is needed. |
symptoms | What are the symptoms of Pantothenate kinase-associated neurodegeneration ? | What are the signs and symptoms of Pantothenate kinase-associated neurodegeneration? There are two forms of PKAN, classical and atypical. Symptoms of classic PKAN develop during early childhood, usually before age 10. The first symptom is often difficutly with movement and walking. Children are often first considered clumsy as their legs can be rigid, dystonic (an abnormality of muscle tone) and have involuntary muscle spasms (spasticity); these symptoms worsen over time. People can plateau for long periods of time and then undergo intervals of rapid deterioration, often lasting one to two months. Children usually lose the ability to walk by 10-15 years after the beginning of symptoms. Many individuals also experience limited speech and may have enough trouble with chewing and swallowing that a feeding tube becomes necessary. Two-thirds of children with classical PKAN develop peripheral (side) vision loss and night blindness due to retinal degeneration. Cognitive functioning varies from person to person and can range from high average to below average. Premature death does occur; however, live span is variable. With improvements in medical care, a greater number of affected individuals are living into adulthood. All individuals with PKAN have an abnormal buildup of iron in certain areas of the brain. A particular change, called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. Features of the atypical form usually progress more slowly and appear within the first three decades of life. Signs and symptoms vary, but the progression in the atypical form is usually slower. Symptoms are usually marked by speech difficulty such repetition of words or phrases (palilalia), rapid speech (tachylalia), and poor articulation/slurring (dysarthria). Psychiatric symptoms such as behavioral problems, personality changes, and depression are more commonly observed. While movement problems are a common feature, it usually develops later. Loss of independent walking often occurs 15-40 years after the initial development of symptoms. Retinal degeneration is rare in the atypical form. The Human Phenotype Ontology provides the following list of signs and symptoms for Pantothenate kinase-associated neurodegeneration. 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 retinal pigmentation 90% Gait disturbance 90% Neurological speech impairment 90% Abnormality of the cranial nerves 50% Abnormality of the foot 50% Chorea 50% Constipation 50% Feeding difficulties in infancy 50% Hyperreflexia 50% Hypertonia 50% Recurrent respiratory infections 50% Tremor 50% Weight loss 50% Abnormal joint morphology 7.5% Developmental regression 7.5% Seizures 7.5% Visual impairment 7.5% Abnormal pyramidal signs - Acanthocytosis - Akinesia - Ataxia - Autosomal recessive inheritance - Behavioral abnormality - Blepharospasm - Bradykinesia - Cerebral degeneration - Choreoathetosis - Decreased muscle mass - Dementia - Depression - Dysarthria - Dysphagia - Dysphonia - Eye of the tiger anomaly of globus pallidus - Eyelid apraxia - Facial grimacing - Global brain atrophy - Hyperactivity - Hyperpigmentation of the skin - Motor tics - Myopathy - Neurodegeneration - Obsessive-compulsive trait - Optic atrophy - Orofacial dyskinesia - Parkinsonism - Pigmentary retinopathy - Rapidly progressive - Retinal degeneration - Rigidity - Spasticity - Urinary incontinence - 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 Gorlin syndrome inherited ? | Gorlin syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the PTCH1 gene and occur in people with no history of the disorder in their family. Having one mutated copy of the PTCH1 gene in each cell is enough to cause the features of Gorlin syndrome that are present early in life, including macrocephaly and skeletal abnormalities. For basal cell carcinomas and other tumors to develop, a mutation in the second copy of the PTCH1 gene must also occur in certain cells during the person's lifetime. Most people who are born with one PTCH1 gene mutation eventually acquire a second mutation in some cells and consequently develop various types of tumors. |
stages | What are the stages of Breast Cancer ? | Key Points
- After breast cancer has been diagnosed, tests are done to find out if cancer cells have spread within the breast 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 breast cancer: - Stage 0 (carcinoma in situ) - Stage I - Stage II - Stage IIIA - Stage IIIB - Stage IIIC - Stage IV - The treatment of breast cancer depends partly on the stage of the disease.
After breast cancer has been diagnosed, tests are done to find out if cancer cells have spread within the breast or to other parts of the body.
The process used to find out whether the cancer has spread within the breast 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 results of some of the tests used to diagnose breast cancer are also used to stage the disease. (See the General Information section.) The following tests and procedures also may be used in the staging process: - Sentinel lymph node biopsy : The removal of the sentinel lymph node during surgery. The sentinel lymph node is the first lymph node to receive lymphatic drainage from a tumor. It is the first lymph node the cancer is likely to spread to from the tumor. A radioactive substance and/or blue dye is injected near the tumor. The substance or dye flows through the lymph ducts to the lymph nodes. The first lymph node to receive the substance or dye is removed. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are not found, it may not be necessary to remove more lymph nodes. - 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. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner. - 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.
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 breast cancer spreads to the bone, the cancer cells in the bone are actually breast cancer cells. The disease is metastatic breast cancer, not bone cancer.
The following stages are used for breast cancer:
This section describes the stages of breast cancer. The breast cancer stage is based on the results of tests that are done on the tumor and lymph nodes removed during surgery and on other tests. Stage 0 (carcinoma in situ) There are 3 types of breast carcinoma in situ: - Ductal carcinoma in situ (DCIS) is a noninvasive condition in which abnormal cells are found in the lining of a breast duct. The abnormal cells have not spread outside the duct to other tissues in the breast. In some cases, DCIS may become invasive cancer and spread to other tissues. At this time, there is no way to know which lesions could become invasive. - Lobular carcinoma in situ (LCIS) is a condition in which abnormal cells are found in the lobules of the breast. This condition seldom becomes invasive cancer. Information about LCIS is not included in this summary. - Paget disease of the nipple is a condition in which abnormal cells are found in the nipple only. Stage I In stage I, cancer has formed. Stage I is divided into stages IA and IB. - In stage IA, the tumor is 2 centimeters or smaller. Cancer has not spread outside the breast. - In stage IB, small clusters of breast cancer cells (larger than 0.2 millimeter but not larger than 2 millimeters) are found in the lymph nodes and either: - no tumor is found in the breast; or - the tumor is 2 centimeters or smaller. Stage II Stage II is divided into stages IIA and IIB. - In stage IIA: - no tumor is found in the breast or the tumor is 2 centimeters or smaller. Cancer (larger than 2 millimeters) is found in 1 to 3 axillary lymph nodes or in the lymph nodes near the breastbone (found during a sentinel lymph node biopsy); or - the tumor is larger than 2 centimeters but not larger than 5 centimeters. Cancer has not spread to the lymph nodes. - In stage IIB, the tumor is: - larger than 2 centimeters but not larger than 5 centimeters. Small clusters of breast cancer cells (larger than 0.2 millimeter but not larger than 2 millimeters) are found in the lymph nodes; or - larger than 2 centimeters but not larger than 5 centimeters. Cancer has spread to 1 to 3 axillary lymph nodes or to the lymph nodes near the breastbone (found during a sentinel lymph node biopsy); or - larger than 5 centimeters. Cancer has not spread to the lymph nodes. Stage IIIA In stage IIIA: - no tumor is found in the breast or the tumor may be any size. Cancer is found in 4 to 9 axillary lymph nodes or in the lymph nodes near the breastbone (found during imaging tests or a physical exam); or - the tumor is larger than 5 centimeters. Small clusters of breast cancer cells (larger than 0.2 millimeter but not larger than 2 millimeters) are found in the lymph nodes; or - the tumor is larger than 5 centimeters. Cancer has spread to 1 to 3 axillary lymph nodes or to the lymph nodes near the breastbone (found during a sentinel lymph node biopsy). Stage IIIB In stage IIIB, the tumor may be any size and cancer has spread to the chest wall and/or to the skin of the breast and caused swelling or an ulcer. Also, cancer may have spread to: - up to 9 axillary lymph nodes; or - the lymph nodes near the breastbone. Cancer that has spread to the skin of the breast may also be inflammatory breast cancer. See the section on Inflammatory Breast Cancer for more information. Stage IIIC In stage IIIC, no tumor is found in the breast or the tumor may be any size. Cancer may have spread to the skin of the breast and caused swelling or an ulcer and/or has spread to the chest wall. Also, cancer has spread to: - 10 or more axillary lymph nodes; or - lymph nodes above or below the collarbone; or - axillary lymph nodes and lymph nodes near the breastbone. Cancer that has spread to the skin of the breast may also be inflammatory breast cancer. See the section on Inflammatory Breast Cancer for more information. Stage IV In stage IV, cancer has spread to other organs of the body, most often the bones, lungs, liver, or brain.
The treatment of breast cancer depends partly on the stage of the disease.
For ductal carcinoma in situ (DCIS) treatment options, see Ductal Carcinoma in Situ. For treatment options for stage I, stage II, stage IIIA, and operable stage IIIC breast cancer, see Early, Localized, or Operable Breast Cancer. For treatment options for stage IIIB, inoperable stage IIIC, and inflammatory breast cancer, see Locally Advanced or Inflammatory Breast Cancer. For treatment options for cancer that has recurred near the area where it first formed, see Locoregional Recurrent Breast Cancer. For treatment options for stage IV breast cancer or breast cancer that has recurred in other parts of the body, see Metastatic Breast Cancer. |
exams and tests | How to diagnose Heart Failure ? | Once initial tests have been performed, your doctor may decide to send you to a cardiologist, a specialist in diagnosis and treatment of heart disease. A cardiologist will perform a physical exam and may order other tests. There are several tests that can identify the cause of heart failure. These tests include: - An echocardiogram is one of the most useful tests for diagnosing heart failure. This test uses sound waves to create a picture of the heart and shows how well the heart is filling with blood. Your doctor uses this test to determine whether any areas of your heart are damaged. An echocardiogram is one of the most useful tests for diagnosing heart failure. This test uses sound waves to create a picture of the heart and shows how well the heart is filling with blood. Your doctor uses this test to determine whether any areas of your heart are damaged. - A Holter monitor, which is a small box that is attached to patches placed on your chest. The monitor, which is worn for 24 hours, provides a continuous recording of heart rhythm during normal activity. A Holter monitor, which is a small box that is attached to patches placed on your chest. The monitor, which is worn for 24 hours, provides a continuous recording of heart rhythm during normal activity. - An exercise stress test captures your EKG and blood pressure before, during, or after exercise to see how your heart responds to exercise. This test tells doctors how your heart responds to activity. An exercise stress test captures your EKG and blood pressure before, during, or after exercise to see how your heart responds to exercise. This test tells doctors how your heart responds to activity. |
causes | What causes Common variable immunodeficiency ? | What causes common variable immunodeficiency (CVID)? Common variable immunodeficiency (CVID) is usually sporadic and thought to result from a combination of genetic and environmental factors. In most cases, the exact cause of CVID is unknown. Genetic factors associated with CVID include mutations in genes involved in the development and function of immune system cells (B cells) which help protect against infection. B cells make proteins called antibodies (also known as immunoglobulins), which attach to foreign agents and "mark" them to be destroyed. Mutations in genes associated with CVID result in B cells that don't make enough antibodies. This causes difficulty fighting infections, causing the signs and symptoms of CVID. Mutations in at least 10 genes have been associated with CVID. About 10% of affected people have mutations in the TNFRSF13B gene. However, not all people who inherit a mutation associated with CVID develop the disease. This is why additional genetic and/or environmental factors are probably needed for the disorder to occur. While CVID usually occurs in people with no family history of the condition, some cases are inherited in an autosomal dominant or autosomal recessive manner. |
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