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treatment | What are the treatments for Parasites - Baylisascaris infection ? | No drugs have been shown to be totally effective for the treatment of Baylisascaris infection. Albendazole, a broad spectrum anthelmintic, has been recommended for specific cases.
Early treatment might reduce serious damage caused by the infection. Should you suspect you may have ingested raccoon feces, seek immediate medical attention.
More on: Resources for Health Professionals: Treatment |
frequency | How many people are affected by complement component 2 deficiency ? | In Western countries, complement component 2 deficiency is estimated to affect 1 in 20,000 individuals; its prevalence in other areas of the world is unknown. |
treatment | What are the treatments for Skin Cancer ? | Different types of treatment are available for patients with skin cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. Four types of standard treatment are used: surgery, radiation therapy, chemotherapy, photodynamic therapy, and immunotherapy. Another therapy, biologic therapy, is one of many therapies currently being tested in clinical trials. These standard cancer treatments work in different ways. - Surgery removes the cancer. - Chemotherapy uses anti-cancer drugs to kill cancer cells or stop their growth. - Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. - Photodynamic therapy uses a drug and a type of laser light to kill cancer cells. - Immunotherapy, which is newer, uses the patient's own immune system to fight the cancer. Surgery removes the cancer. Chemotherapy uses anti-cancer drugs to kill cancer cells or stop their growth. Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. Photodynamic therapy uses a drug and a type of laser light to kill cancer cells. Immunotherapy, which is newer, uses the patient's own immune system to fight the cancer. In June of 2011, an important advance in treating melanoma was announced at an annual cancer meeting. A drug called ipilimumab was approved for treating the disease, and it works differently than traditional chemotherapy. It uses immunotherapy to help the immune system recognize and reject cancer cells. When its successful, immunotherapy can lead to complete reversal of even advanced disease. Some patients with stage IV metastatic disease who were treated in early immunotherapy trials after other therapies were unsuccessful are still in complete remission more than 20 years later. |
causes | What causes Coffin-Siris syndrome ? | What causes Coffin-Siris syndrome? Coffin-Siris syndrome is caused by a change (mutation) in either the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Exactly how these gene mutations result in the symptoms of Coffin-Siris syndrome is not known, however it is thought that the mutations affect how genetic material is packaged in the cell. Coffin-Siris syndrome is an autosomal dominant condition; as only one gene mutation is needed to cause the syndrome. It usually occurs for the first time in a family due to a new mutation. In some cases, no genetic mutation can be identified and the cause of Coffin-Siris syndrome in the family remains unknown. |
susceptibility | Who is at risk for Kidney Disease? ? | Diabetes and high blood pressure are the two leading risk factors for kidney disease. Both diabetes and high blood pressure damage the small blood vessels in your kidneys and can cause kidney disease -- without you feeling it. There are several other risk factors for kidney disease. Cardiovascular (heart) disease is a risk factor. So is family history: if you have a mother, father, sister, or brother who has had kidney disease, then you are at increased risk. African Americans, Hispanics, and Native Americans tend to have a greater risk for kidney failure. This is mostly due to higher rates of diabetes and high blood pressure in these communities, although there may be other reasons. (Watch the video to learn more about the connection between heart disease and kidney disease. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) |
symptoms | What are the symptoms of Fructosuria ? | What are the signs and symptoms of Fructosuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Fructosuria. 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 - Impairment of fructose metabolism - 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 Hashimoto thyroiditis inherited ? | The inheritance pattern of Hashimoto thyroiditis is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Hashimoto thyroiditis or another autoimmune disorder likely increases a person's risk of developing the condition. |
susceptibility | Who is at risk for Merkel Cell Carcinoma? ? | un exposure and having a weak immune system can affect the risk of Merkel cell carcinoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for Merkel cell carcinoma include the following: - Being exposed to a lot of natural sunlight. - Being exposed to artificial sunlight, such as from tanning beds or psoralen and ultraviolet A (PUVA) therapy for psoriasis. - Having an immune system weakened by disease, such as chronic lymphocytic leukemia or HIV infection. - Taking drugs that make the immune system less active, such as after an organ transplant. - Having a history of other types of cancer. - Being older than 50 years, male, or white. |
information | Do you have information about Nutrition for Seniors | Summary : Food provides the energy and nutrients you need to be healthy. Nutrients include proteins, carbohydrates, fats, vitamins, minerals and water. Studies show that a good diet in your later years reduces your risk of osteoporosis, high blood pressure, heart diseases and certain cancers. As you age, you might need less energy. But you still need just as many of the nutrients in food. To get them - Choose a variety of healthy foods - Avoid empty calories, which are foods with lots of calories but few nutrients, such as chips, cookies, soda and alcohol - Pick foods that are low in cholesterol and fat, especially saturated and trans fats Saturated fats are usually fats that come from animals. Look for trans fat on the labels of processed foods, margarines and shortenings. NIH: National Institute on Aging |
symptoms | What are the symptoms of Neuroblastoma ? | What are the signs and symptoms of Neuroblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuroblastoma. 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) Neoplasm of the nervous system 90% Abdominal pain - Abnormality of the thorax - Anemia - Ataxia - Autosomal dominant inheritance - Bone pain - Diarrhea - Elevated urinary dopamine - Elevated urinary homovanillic acid - Elevated urinary vanillylmandelic acid - Failure to thrive - Fever - Ganglioneuroblastoma - Ganglioneuroma - Heterogeneous - Horner syndrome - Hypertension - Incomplete penetrance - Myoclonus - Neuroblastoma - Opsoclonus - Skin nodule - Spinal cord compression - Sporadic - Weight loss - 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 hyperferritinemia-cataract syndrome ? | Hyperferritinemia-cataract syndrome has been estimated to occur in 1 in 200,000 individuals. |
stages | What are the stages of Parathyroid Cancer ? | Key Points
- After parathyroid cancer has been diagnosed, tests are done to find out if cancer cells have spread 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. - There is no standard staging process for parathyroid cancer.
After parathyroid cancer has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body.
The process used to find out if cancer has spread to other parts of the body is called staging. The following imaging tests may be used to determine if cancer has spread to other parts of the body such as the lungs, liver, bone, heart, pancreas, or lymph 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. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI).
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 parathyroid cancer spreads to the lung, the cancer cells in the lung are actually parathyroid cancer cells. The disease is metastatic parathyroid cancer, not lung cancer.
There is no standard staging process for parathyroid cancer.
Parathyroid cancer is described as either localized or metastatic: - Localized parathyroid cancer is found in a parathyroid gland and may have spread to nearby tissues. - Metastatic parathyroid cancer has spread to other parts of the body, such as the lungs, liver, bone, sac around the heart, pancreas, or lymph nodes. |
stages | What are the stages of Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ? | Key Points
- Once childhood acute myeloid leukemia (AML) has been diagnosed, tests are done to find out if the cancer has spread to other parts of the body. - There is no standard staging system for childhood AML, childhood chronic myelogenous leukemia (CML), juvenile myelomonocytic leukemia (JMML), or myelodysplastic syndromes (MDS).
Once childhood acute myeloid leukemia (AML) has been diagnosed, tests are done to find out if the cancer has spread to other parts of the body.
The following tests and procedures may be used to determine if the leukemia has spread: - Lumbar puncture : A procedure used to collect a sample of cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that leukemia cells have spread to the brain and spinal cord. This procedure is also called an LP or spinal tap. - Biopsy of the testicles, ovaries, or skin: The removal of cells or tissues from the testicles, ovaries, or skin so they can be viewed under a microscope to check for signs of cancer. This is done only if something unusual about the testicles, ovaries, or skin is found during the physical exam.
There is no standard staging system for childhood AML, childhood chronic myelogenous leukemia (CML), juvenile myelomonocytic leukemia (JMML), or myelodysplastic syndromes (MDS).
The extent or spread of cancer is usually described as stages. Instead of stages, treatment of childhood AML, childhood CML, JMML, and MDS is based on one or more of the following: - The type of disease or the subtype of AML. - Whether leukemia has spread outside the blood and bone marrow. - Whether the disease is newly diagnosed, in remission, or recurrent. Newly diagnosed childhood AML Newly diagnosed childhood AML has not been treated except to relieve signs and symptoms such as fever, bleeding, or pain, and one of the following is true: - More than 20% of the cells in the bone marrow are blasts (leukemia cells). or - Less than 20% of the cells in the bone marrow are blasts and there is a specific change in the chromosome. Childhood AML in remission In childhood AML in remission, the disease has been treated and the following are true: - The complete blood count is almost normal. - Less than 5% of the cells in the bone marrow are blasts (leukemia cells). - There are no signs or symptoms of leukemia in the brain, spinal cord, or other parts of the body. |
symptoms | What are the symptoms of Primary lateral sclerosis ? | What are the signs and symptoms of Primary lateral sclerosis? Primary lateral sclerosis (PLS) causes weakness in the voluntary muscles, such as those used to control the legs, arms and tongue. PLS can happen at any age, but it is more common after age 40. A subtype of PLS, known as juvenile primary lateral sclerosis, begins in early childhood. PLS is often mistaken for another, more common motor neuron disease called amyotrophic lateral sclerosis (ALS). However, primary lateral sclerosis progresses more slowly than ALS, and in most cases is not considered fatal. Signs and symptoms of PLS typically take years to progress. The hallmark of PLS is progressive weakness and spasticity of voluntary muscles. The first symptoms are often tripping or difficulty lifting the legs. Other people may be the first to notice a change in the affected person's gait. Occasionally, speaking (dysarthria) and swallowing (dysphasia) difficulties, or arm weakness are the first symptoms. Speech problems can begin with hoarseness, a reduced rate of speaking, excessive clearing of the throat, or slurred speech when a person is tired. In some cases, speech becomes so slurred that others cannot understand it. Drooling can be a problem as well due to weakened bulbar muscles. Many people report painful muscle spasms and other pain. Other common symptoms may include hyperactive reflexes and Babinkski's sign. Wherever symptoms originate, the legs, arms, hands, and speech and swallowing muscles are eventually affected. As the disease progresses, assistive devices such as canes, walkers or wheelchairs are typically needed. The Human Phenotype Ontology provides the following list of signs and symptoms for Primary lateral 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) Abnormal upper motor neuron morphology - Adult onset - Autosomal dominant inheritance - Babinski sign - Dysphagia - Hyperreflexia - Slow progression - Spastic dysarthria - Spastic gait - Spastic tetraparesis - 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) Sleep Apnea ? | Sleep apnea is a common sleep disorder characterized by brief interruptions of breathing during sleep. These episodes usually last 10 seconds or more and occur repeatedly throughout the night. People with sleep apnea will partially awaken as they struggle to breathe, but in the morning they will not be aware of the disturbances in their sleep. The most common type of sleep apnea is obstructive sleep apnea (OSA), caused by relaxation of soft tissue in the back of the throat that blocks the passage of air. Central sleep apnea (CSA) is caused by irregularities in the brains normal signals to breathe. Most people with sleep apnea will have a combination of both types. The hallmark symptom of the disorder is excessive daytime sleepiness. Additional symptoms of sleep apnea include restless sleep, loud snoring (with periods of silence followed by gasps), falling asleep during the day, morning headaches, trouble concentrating, irritability, forgetfulness, mood or behavior changes, anxiety, and depression. Not everyone who has these symptoms will have sleep apnea, but it is recommended that people who are experiencing even a few of these symptoms visit their doctor for evaluation. Sleep apnea is more likely to occur in men than women, and in people who are overweight or obese. |
symptoms | What are the symptoms of Mineral and Bone Disorder in Chronic Kidney Disease ? | In adults, symptoms of mineral and bone disorder in CKD may not appear until bone changes have taken place for many years. For this reason, people often refer to the disease as a silent crippler. Eventually, a person with the condition may begin to feel bone and joint pain.
Mineral and Bone Disorder in Children with Chronic Kidney Disease Mineral and bone disorder in CKD is most serious when it occurs in children because their bones are still developing and growing. Growing children can show symptoms of mineral and bone disorder even in the early stages of CKD. Slowed bone growth leads to short stature, which may remain with a child into adulthood. One deformity caused by mineral and bone disorder in CKD occurs when the legs bend inward or outward, a condition often referred to as "renal rickets." More information is provided in the NIDDK health topic, Growth Failure in Children with Kidney Disease. Find more about childrens bone health on the Eunice Kennedy Shriver National Institute of Child Health and Human Development website at www.nichd.nih.gov. |
inheritance | Is Leigh syndrome inherited ? | Leigh syndrome can have different inheritance patterns. It is most commonly inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. This pattern of inheritance applies to genes contained in nuclear DNA. 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. In about 20 to 25 percent of people with Leigh syndrome, the condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. Occasionally, mutations in mtDNA occur spontaneously, and there is no history of Leigh syndrome in the family. In a small number of affected individuals with mutations in nuclear DNA, Leigh syndrome is inherited in an X-linked recessive pattern. The condition has this pattern of inheritance when the mutated gene 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 the disorder. 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. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. |
information | What is (are) Rectal Disorders ? | The rectum is the lower part of your large intestine where your body stores stool. Problems with rectum are common. They include hemorrhoids, abscesses, incontinence and cancer. Many people are embarrassed to talk about rectal troubles. But seeing your doctor about problems in this area is important. This is especially true if you have pain or bleeding. Treatments vary widely depending on the particular problem. NIH: National Institute of Diabetes and Digestive and Kidney Diseases |
genetic changes | What are the genetic changes related to lymphedema-distichiasis syndrome ? | Lymphedema-distichiasis syndrome is caused by mutations in the FOXC2 gene. The FOXC2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. The FOXC2 protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. Researchers believe that the FOXC2 protein has a role in a variety of developmental processes, such as the formation of veins and the development of the lungs, eyes, kidneys and urinary tract, cardiovascular system, and the transport system for immune cells (lymphatic vessels). |
frequency | How many people are affected by Wolf-Hirschhorn syndrome ? | The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 births. However, this may be an underestimate because it is likely that some affected individuals are never diagnosed. For unknown reasons, Wolf-Hirschhorn syndrome occurs in about twice as many females as males. |
information | What is (are) Chronic Fatigue Syndrome (CFS) ? | Chronic fatigue syndrome, or CFS, is a devastating and complex disorder. People with CFS have overwhelming fatigue and a host of other symptoms that are not improved by bed rest and that can get worse after physical activity or mental exertion. They often function at a substantially lower level of activity than they were capable of before they became ill.
Besides severe fatigue, other symptoms include muscle pain, impaired memory or mental concentration, insomnia, and post-exertion malaise lasting more than 24 hours. In some cases, CFS can persist for years.
Researchers have not yet identified what causes CFS, and there are no tests to diagnose CFS. Moreover, because many illnesses have fatigue as a symptom, doctors need to take care to rule out other conditions, which may be treatable. |
information | What is (are) Eales disease ? | Eales disease is a rare vision disorder that appears as an inflammation and white haze around the outercoat of the veins in the retina. This condition is most common among young males and normally affects both eyes. In most cases, vision becomes suddenly blurred because the vitreous, the clear jelly that fills the eyeball behind the lens of the eye, seeps out. Treatment includes corticosteroids in the inflammation stage and photocoagulation in the proliferative stage of the disease. Visual prognosis is good if treatment begins early in the course of the disease. |
information | What is (are) Diabetes ? | Studies have shown that most people with prediabetes develop type 2 diabetes within a few years, unless they change their lifestyle. Most people with prediabetes dont have any symptoms. Your doctor can test your blood to find out if your blood glucose levels are higher than normal. Losing weightat least 5 to 10 percent of your starting weightcan prevent or delay diabetes or even reverse prediabetes. Thats 10 to 20 pounds for someone who weighs 200 pounds. You can lose weight by cutting the amount of calories and fat you consume and by being physically active at least 30 to 60 minutes every day. Physical activity also helps your body use the hormone insulin properly. Your body needs insulin to use glucose for energy. Medicine can help control the amount of glucose in your blood. Ask your doctor if medicine to control glucose is right for you. Learn more about prediabetes here. |
causes | What causes Citrullinemia type I ? | What causes citrullinemia type I? Citrullinemia type I is caused by mutations in the ASS1 gene. This gene provides instructions for making an enzyme, argininosuccinate synthetase 1, that is responsible for the third step in the urea cycle. Mutations in the ASS1 gene reduce the activity of the enzyme, which disrupts the urea cycle and prevents the body from processing nitrogen effectively. Excess nitrogen (in the form of ammonia) and other byproducts of the urea cycle accumulate in the bloodstream. Ammonia is particularly toxic to the nervous system, which helps explain the neurologic symptoms (such as lethargy, seizures, and ataxia) that are often seen in this condition. |
symptoms | What are the symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ? | What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia. 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 hair quantity 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the eyebrow 90% Behavioral abnormality 90% Delayed skeletal maturation 90% Fine hair 90% Hypohidrosis 90% Hypothyroidism 90% Recurrent respiratory infections 90% Short stature 90% Lacrimation abnormality 50% Melanocytic nevus 50% Abnormal respiratory motile cilium morphology - Abnormality of skin pigmentation - Autosomal recessive inheritance - Ciliary dyskinesia - Hypohidrotic ectodermal dysplasia - Nail dysplasia - Primary hypothyroidism - Recurrent infections - Sparse eyebrow - Sparse scalp hair - Urticaria - 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 Langerhans cell histiocytosis ? | How is Langerhans cell histiocytosis diagnosed? Testing for Langerhans cell histiocytosis (LCH) may include bronchoscopy with biopsy, x-ray, skin biopsy, bone marrow biopsy, complete blood count, and pulmonary function tests. Because LCH is sometimes associated with cancer, CT scans and a biopsy may be done to rule out possible cancer. Additional information about the diagnosis of LCH can be viewed on the Histiocytosis Association's website. |
treatment | What are the treatments for anhidrotic ectodermal dysplasia with immune deficiency ? | These resources address the diagnosis or management of anhidrotic ectodermal dysplasia with immune deficiency: - Genetic Testing Registry: Anhidrotic ectodermal dysplasia with immune deficiency - Genetic Testing Registry: Hypohidrotic ectodermal dysplasia with immune deficiency - MedlinePlus Encyclopedia: Immunodeficiency Disorders 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) Osteogenesis imperfecta type III ? | Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are common. Other signs and symptoms vary significantly from person to person but may include severe bone fragility, bone malformations, short stature, dental problems (dentinogenesis imperfect), macrocephaly (unusually large head), hearing loss, and blue sclerae (whites of the eyes). Most affected people are unable to walk without assistance. OI type III is caused by changes (mutations) in the COL1A1 or COL1A2 genes and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. |
genetic changes | What are the genetic changes related to Silver syndrome ? | Mutations in the BSCL2 gene cause Silver syndrome. The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown. The BSCL2 gene is active (expressed) in cells throughout the body, particularly in nerve cells that control muscle movement (motor neurons) and in brain cells. Within cells, seipin is found in the membrane of a cell structure called the endoplasmic reticulum, which is involved in protein processing and transport. BSCL2 gene mutations that cause Silver syndrome likely lead to an alteration in the structure of seipin, causing it to fold into an incorrect 3-dimensional shape. Research findings indicate that misfolded seipin proteins accumulate in the endoplasmic reticulum. This accumulation likely damages and kills motor neurons, which leads to muscle weakness and spasticity. In Silver syndrome, only specific motor neurons are involved, resulting in the hand and leg muscles being solely affected. Some people with Silver syndrome do not have an identified mutation in the BSCL2 gene. The cause of the condition in these individuals is unknown. |
symptoms | What are the symptoms of Ehlers-Danlos syndrome, dermatosparaxis type ? | What are the signs and symptoms of Ehlers-Danlos syndrome, dermatosparaxis type? The signs and symptoms of Ehlers-Danlos syndrome (EDS), dermatosparaxis type vary but may include: Soft, doughy skin that is extremely fragile Severe bruising and scarring Saggy, redundant skin, especially on the face Hernias Short stature Delayed closure of the fontanelles Short fingers Characteristic facial appearance with puffy eyelids, blue sclerae (whites of the eyes), epicanthal folds, downslanting palpebral fissures (outside corners of the eyes that point downward) and micrognathia Rupture of the bladder or diaphragm Mild to severe joint hypermobility The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, dermatosparaxis type. 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 coagulation 90% Abnormality of the hip bone 90% Atypical scarring of skin 90% Hyperextensible skin 90% Joint dislocation 90% Limitation of joint mobility 90% Muscular hypotonia 90% Neurological speech impairment 90% Reduced bone mineral density 90% Short stature 90% Thin skin 90% Umbilical hernia 90% Depressed nasal bridge 50% Epicanthus 50% Hypertelorism 50% Scoliosis 50% Abnormality of primary molar morphology - Autosomal recessive inheritance - Blepharochalasis - Blue sclerae - Bruising susceptibility - Delayed closure of the anterior fontanelle - Fragile skin - Frontal open bite - Gingival bleeding - Gingival hyperkeratosis - Gingival overgrowth - Hirsutism - Hypodontia - Inguinal hernia - Joint laxity - Micromelia - Motor delay - Myopia - Osteopenia - Premature birth - Premature rupture of membranes - Recurrent mandibular subluxations - Redundant skin - Short phalanx of finger - Short toe - Soft, doughy skin - Spontaneous neonatal pneumothorax - Thick vermilion border - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Wellesley Carmen French syndrome ? | What are the signs and symptoms of Wellesley Carmen French syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wellesley Carmen French 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 oral cavity 50% Cataract 50% Cavernous hemangioma 50% Epicanthus 50% Hypermetropia 50% Low-set, posteriorly rotated ears 50% Ptosis 50% Short stature 50% Umbilical hernia 50% Accessory oral frenulum - Anteverted nares - Autosomal dominant inheritance - Blepharophimosis - Curly hair - Posterior polar cataract - Posteriorly rotated ears - Short nose - Short palpebral fissure - Upslanted palpebral fissure - 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 primary carnitine deficiency ? | Mutations in the SLC22A5 gene cause primary carnitine deficiency. This gene provides instructions for making a protein called OCTN2 that transports carnitine into cells. Cells need carnitine to bring certain types of fats (fatty acids) into mitochondria, which are the energy-producing centers within cells. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the SLC22A5 gene result in an absent or dysfunctional OCTN2 protein. As a result, there is a shortage (deficiency) of carnitine within cells. Without carnitine, fatty acids cannot enter mitochondria and be used to make energy. Reduced energy production can lead to some of the features of primary carnitine deficiency, such as muscle weakness and hypoglycemia. Fatty acids may also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder. |
susceptibility | Who is at risk for Marburg hemorrhagic fever (Marburg HF)? ? | People who have close contact with African fruit bats, humans patients, or non-human primates infected with Marburg virus are at risk.
Historically, the people at highest risk include family members and hospital staff who care for patients infected with Marburg virus and have not used proper barrier nursing techniques. Particular occupations, such as veterinarians and laboratory or quarantine facility workers who handle non-human primates from Africa, may also be at increased risk of exposure to Marburg virus.
Exposure risk can be higher for travelers visiting endemic regions in Africa, including Uganda and other parts of central Africa, and have contact with fruit bats, or enter caves or mines inhabited by fruit bats. |
information | What is (are) Jackson-Weiss syndrome ? | Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to a misshapen skull, widely spaced eyes, and a bulging forehead. Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. The first (big) toes are short and wide, and they bend away from the other toes. Additionally, the bones of some toes may be fused together (syndactyly) or abnormally shaped. The hands are almost always normal. People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span. |
information | What is (are) Lynch syndrome ? | Lynch syndrome is an inherited condition that causes an increased risk of developing cancer. Individuals with Lynch syndrome have a higher risk of developing colon and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Women with Lynch syndrome also have a high risk of developing uterine cancer (also called endometrial cancer) and ovarian cancer. Even though the disorder was originally described as not involving noncancerous (benign) growths (polyps) in the colon, people with Lynch syndrome may occasionally have colon polyps. Lynch syndrome has an autosomal dominant pattern of inheritance and is caused by a mutation in the MLH1, MSH2, MSH6, PMS2 or EPCAM gene. |
information | What is (are) Psoriasis ? | Oral or injected medications for psoriasis include methotrexate, cycloclosporine, oral retinoids, and biologics. These therapies, prescribed by your doctor, work in different ways to help control the underlying disease process. |
stages | What are the stages of Childhood Central Nervous System Germ Cell Tumors ? | Key Points
- Childhood central nervous system (CNS) germ cell tumors rarely spread outside of the brain and spinal cord.
Childhood central nervous system (CNS) germ cell tumors rarely spread outside of the brain and spinal cord.
Staging is the process used to find out how much cancer there is and if cancer has spread. There is no standard staging system for childhood central nervous system (CNS) germ cell tumors. The treatment plan depends on the following: - The type of germ cell tumor. - Whether the tumor has spread within the CNS or to other parts of the body. - The results of tests and procedures done to diagnose childhood CNS germ cell tumors. - Whether the tumor is newly diagnosed or has recurred (come back) after treatment. |
information | What is (are) Obesity Hypoventilation Syndrome ? | Obesity hypoventilation (HI-po-ven-tih-LA-shun) syndrome (OHS) is a breathing disorder that affects some obese people. In OHS, poor breathing results in too much carbon dioxide (hypoventilation) and too little oxygen in the blood (hypoxemia).
OHS sometimes is called Pickwickian syndrome.
Overview
To understand OHS, it helps to understand how the lungs work. When you breathe, air passes through your nose and mouth into your windpipe. The air then travels to your lungs' air sacs. These sacs are called alveoli (al-VEE-uhl-eye).
Small blood vessels called capillaries (KAP-ih-lare-ees) run through the walls of the air sacs. When air reaches the air sacs, oxygen passes through the air sac walls into the blood in the capillaries. At the same time, carbon dioxide moves from the capillaries into the air sacs. This process is called gas exchange.
In people who have OHS, poor breathing prevents proper gas exchange. As a result, the level of carbon dioxide in the blood rises. Also, the level of oxygen in the blood drops.
These changes can lead to serious health problems, such as leg edema (e-DE-mah), pulmonary hypertension (PULL-mun-ary HI-per-TEN-shun), cor pulmonale (pul-meh-NAL-e), and secondary erythrocytosis (eh-RITH-ro-si-TOE-sis). If left untreated, OHS can even be fatal.
The cause of OHS isn't fully known. Researchers think that several factors may work together to cause the disorder.
Many people who have OHS also have obstructive sleep apnea. Obstructive sleep apnea is a common disorder in which the airway collapses or is blocked during sleep. This causes pauses in breathing or shallow breaths while you sleep.
Obstructive sleep apnea disrupts your sleep and causes you to feel very tired during the day. (For more information, go to the Health Topics Sleep Apnea article.)
Outlook
Doctors treat OHS in a number of ways. One way is with positive airway pressure (PAP) machines, which are used during sleep.
PAP therapy uses mild air pressure to keep your airways open. Your doctor might recommend CPAP (continuous positive airway pressure) or BiPAP (bilevel positive airway pressure).
If your doctor prescribes PAP therapy, you'll work with someone from a home equipment provider to select a CPAP or BiPAP machine. The home equipment provider will help you select a machine based on your prescription and the features that meet your needs.
Other treatments for OHS include ventilator (VEN-til-a-tor) support and medicines. (A ventilator is a machine that supports breathing.)
OHS occurs with obesity, so your doctor will likely recommend weight loss as part of your treatment plan. Successful weight loss often involves setting goals and making lifestyle changes, such as following a healthy diet and being physically active.
OHS can lead to other serious health problems, so following your treatment plan is important. Your health care team, home equipment provider, and family can help you manage your treatment. |
inheritance | Is Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant inherited ? | This condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all reported cases have resulted from new mutations in the gene and have occurred in people with no history of the disorder in their family. |
prevention | How to prevent Proctitis ? | People who receive anal sex can avoid getting STD-related proctitis by having their partner use a condom. If anorectal trauma caused proctitis, stopping the activity that triggered inflammation often will stop the inflammation and prevent recurrence.
Other causes of proctitis cannot always be prevented. However, their symptoms can be treated by a doctor. |
exams and tests | How to diagnose Prostate Enlargement: Benign Prostatic Hyperplasia ? | A health care provider diagnoses benign prostatic hyperplasia based on
- a personal and family medical history - a physical exam - medical tests
Personal and Family Medical History
Taking a personal and family medical history is one of the first things a health care provider may do to help diagnose benign prostatic hyperplasia. A health care provider may ask a man
- what symptoms are present - when the symptoms began and how often they occur - whether he has a history of recurrent UTIs - what medications he takes, both prescription and over the counter - how much liquid he typically drinks each day - whether he consumes caffeine and alcohol - about his general medical history, including any significant illnesses or surgeries
Physical Exam
A physical exam may help diagnose benign prostatic hyperplasia. During a physical exam, a health care provider most often
- examines a patients body, which can include checking for - discharge from the urethra - enlarged or tender lymph nodes in the groin - a swollen or tender scrotum - taps on specific areas of the patients body - performs a digital rectal exam
A digital rectal exam, or rectal exam, is a physical exam of the prostate. To perform the exam, the health care provider asks the man to bend over a table or lie on his side while holding his knees close to his chest. The health care provider slides a gloved, lubricated finger into the rectum and feels the part of the prostate that lies next to the rectum. The man may feel slight, brief discomfort during the rectal exam. A health care provider most often performs a rectal exam during an office visit, and men do not require anesthesia. The exam helps the health care provider see if the prostate is enlarged or tender or has any abnormalities that require more testing.
Many health care providers perform a rectal exam as part of a routine physical exam for men age 40 or older, whether or not they have urinary problems.
Medical Tests
A health care provider may refer men to a urologista doctor who specializes in urinary problems and the male reproductive systemthough the health care provider most often diagnoses benign prostatic hyperplasia on the basis of symptoms and a digital rectal exam. A urologist uses medical tests to help diagnose lower urinary tract problems related to benign prostatic hyperplasia and recommend treatment. Medical tests may include
- urinalysis - a prostate-specific antigen (PSA) blood test - urodynamic tests - cystoscopy - transrectal ultrasound - biopsy
Urinalysis. Urinalysis involves testing a urine sample. The patient collects a urine sample in a special container in a health care providers office or a commercial facility. A health care provider tests the sample during an office visit or sends it to a lab for analysis. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the urine. Patches on the dipstick change color to indicate signs of infection in urine.
PSA blood test. A health care provider may draw blood for a PSA test during an office visit or in a commercial facility and send the sample to a lab for analysis. Prostate cells create a protein called PSA. Men who have prostate cancer may have a higher amount of PSA in their blood. However, a high PSA level does not necessarily indicate prostate cancer. In fact, benign prostatic hyperplasia, prostate infections, inflammation, aging, and normal fluctuations often cause high PSA levels. Much remains unknown about how to interpret a PSA blood test, the tests ability to discriminate between cancer and prostate conditions such as benign prostatic hyperplasia, and the best course of action to take if the PSA level is high.
Urodynamic tests. Urodynamic tests include a variety of procedures that look at how well the bladder and urethra store and release urine. A health care provider performs urodynamic tests during an office visit or in an outpatient center or a hospital. Some urodynamic tests do not require anesthesia; others may require local anesthesia. Most urodynamic tests focus on the bladders ability to hold urine and empty steadily and completely and may include the following:
- uroflowmetry, which measures how rapidly the bladder releases urine - postvoid residual measurement, which evaluates how much urine remains in the bladder after urination - reduced urine flow or residual urine in the bladder, which often suggests urine blockage due to benign prostatic hyperplasia
More information is provided in the NIDDK health topic, Urodynamic Testing.
Cystoscopy. Cystoscopy is a procedure that uses a tubelike instrument, called a cystoscope, to look inside the urethra and bladder. A urologist inserts the cystoscope through the opening at the tip of the penis and into the lower urinary tract. A urologist performs cystoscopy during an office visit or in an outpatient center or a hospital. The urologist will give the patient local anesthesia; however, in some cases, the patient may require sedation and regional or general anesthesia. A urologist may use cystoscopy to look for blockage or stones in the urinary tract.
More information is provided in the NIDDK health topic, Cystoscopy and Ureteroscopy.
Transrectal ultrasound. Transrectal ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The health care provider can move the transducer to different angles to make it possible to examine different organs. A specially trained technician performs the procedure in a health care providers office, an outpatient center, or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images; the patient does not require anesthesia. Urologists most often use transrectal ultrasound to examine the prostate. In a transrectal ultrasound, the technician inserts a transducer slightly larger than a pen into the mans rectum, next to the prostate. The ultrasound image shows the size of the prostate and any abnormalities, such as tumors. Transrectal ultrasound cannot reliably diagnose prostate cancer.
Biopsy. Biopsy is a procedure that involves taking a small piece of prostate tissue for examination with a microscope. A urologist performs the biopsy in an outpatient center or a hospital. The urologist will give the patient light sedation and local anesthetic; however, in some cases, the patient will require general anesthesia. The urologist uses imaging techniques such as ultrasound, a computerized tomography scan, or magnetic resonance imaging to guide the biopsy needle into the prostate. A pathologista doctor who specializes in examining tissues to diagnose diseasesexamines the prostate tissue in a lab. The test can show whether prostate cancer is present.
More information is provided in the NIDDK health topic, Medical Tests for Prostate Problems. |
symptoms | What are the symptoms of Huntington disease ? | What are the signs and symptoms of Huntington disease? Huntington disease (HD) is a progressive disorder that causes motor, cognitive, and psychiatric signs and symptoms. On average, most people begin developing features of HD between ages 35 and 44. Signs and symptoms vary by stage and may include: Early stage: Behavioral disturbances Clumsiness Moodiness Irritability Paranoia Apathy Anxiety Hallucinations Abnormal eye movements Depression Impaired ability to detect odors Middle stage: Dystonia Involuntary movements Trouble with balance and walking Chorea with twisting and writhing motions Unsteady gait (style of walking) Slow reaction time General weakness Weight loss Speech difficulties Stubbornness Late stage: Rigidity (continual tension of the muscles) Bradykinesia (difficulty initiating and continuing movements) Severe chorea Serious weight loss Inability to speak Inability to walk Swallowing problems Inability to care for oneself There is also a less common, early-onset form of HD which begins in childhood or adolescence. For more information on this form, please visit GARD's juvenile Huntington disease Web page. The Human Phenotype Ontology provides the following list of signs and symptoms for Huntington 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 movement 50% Abnormality of the voice 50% Behavioral abnormality 50% Cerebral cortical atrophy 50% Developmental regression 50% EEG abnormality 50% Hypertonia 50% Rigidity 7.5% Abnormality of eye movement - Autosomal dominant inheritance - Bradykinesia - Chorea - Dementia - Depression - Gliosis - Hyperreflexia - Neuronal loss in central nervous system - Personality changes - 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. |
outlook | What is the outlook for Holoprosencephaly ? | The prognosis for individuals with the disorder depends on the severity of the brain and facial deformities. |
stages | What are the stages of Oropharyngeal Cancer ? | Key Points
- After oropharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the oropharynx 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 oropharyngeal cancer: - Stage 0 (Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV
After oropharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the oropharynx or to other parts of the body.
The process used to find out if cancer has spread within the oropharynx 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 oropharyngeal cancer are often used to stage the disease.
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 oropharyngeal cancer spreads to the lung, the cancer cells in the lung are actually oropharyngeal cancer cells. The disease is metastatic oropharyngeal cancer, not lung cancer.
The following stages are used for oropharyngeal cancer:
Stage 0 (Carcinoma in Situ) In stage 0, abnormal cells are found in the lining of the oropharynx. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed and is 2 centimeters or smaller and is found in the oropharynx only. Stage II In stage II, the cancer is larger than 2 centimeters but not larger than 4 centimeters and is found in the oropharynx only. Stage III In stage III, the cancer is either: - 4 centimeters or smaller; cancer has spread to one lymph node on the same side of the neck as the tumor and the lymph node is 3 centimeters or smaller; or - larger than 4 centimeters or has spread to the epiglottis (the flap that covers the trachea during swallowing). Cancer may have spread to one lymph node on the same side of the neck as the tumor and the lymph node is 3 centimeters or smaller. Stage IV Stage IV is divided into stage IVA, IVB, and IVC: - In stage IVA, cancer: - has spread to the larynx, front part of the roof of the mouth, lower jaw, or muscles that move the tongue or are used for chewing. Cancer may have spread to one lymph node on the same side of the neck as the tumor and the lymph node is 3 centimeters or smaller; or - has spread to one lymph node on the same side of the neck as the tumor (the lymph node is larger than 3 centimeters but not larger than 6 centimeters) or to more than one lymph node anywhere in the neck (the lymph nodes are 6 centimeters or smaller), and one of the following is true: - tumor in the oropharynx is any size and may have spread to the epiglottis (the flap that covers the trachea during swallowing); or - tumor has spread to the larynx, front part of the roof of the mouth, lower jaw, or muscles that move the tongue or are used for chewing. - In stage IVB, the tumor: - surrounds the carotid artery or has spread to the muscle that opens the jaw, the bone attached to the muscles that move the jaw, nasopharynx, or base of the skull. Cancer may have spread to one or more lymph nodes which can be any size; or - may be any size and has spread to one or more lymph nodes that are larger than 6 centimeters. - In stage IVC, the tumor may be any size and has spread beyond the oropharynx to other parts of the body, such as the lung, bone, or liver. |
information | What is (are) Orofaciodigital syndrome 1 ? | Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease. Orofaciodigital syndrome 1 is caused by a change (mutation) in a gene called OFD1 which appears to play an important role in the early development of many parts of the body including the brain, face, limbs, and kidneys. The syndrome is inherited in an X-linked dominant pattern. The diagnosis of OFD1 is sometimes made at birth, but it may be suspected only after polycystic kidney disease is found in later childhood or adulthood. Treatment for OFD1 typically focuses on the symptoms an individual has and may include surgery for cleft lip or palate , other oral abnormalities, or syndactyly (webbing of the fingers or toes). Researchers have identified at least 13 potential forms of orofaciodigital syndromes, which are classified by their patterns of signs and symptoms. OFD1 is the most common form of orofaciodigital syndrome and differs from the other types mainly by its association with polycystic kidney disease. |
symptoms | What are the symptoms of Nasopharyngeal Cancer ? | Signs of nasopharyngeal cancer include trouble breathing, speaking, or hearing. These and other signs and symptoms may be caused by nasopharyngeal cancer or by other conditions. Check with your doctor if you have any of the following: - A lump in the nose or neck. - A sore throat. - Trouble breathing or speaking. - Nosebleeds. - Trouble hearing. - Pain or ringing in the ear. - Headaches. |
exams and tests | How to diagnose Dumping Syndrome ? | A health care provider will diagnose dumping syndrome primarily on the basis of symptoms. A scoring system helps differentiate dumping syndrome from other GI problems. The scoring system assigns points to each symptom and the total points result in a score. A person with a score above 7 likely has dumping syndrome.
The following tests may confirm dumping syndrome and exclude other conditions with similar symptoms:
- A modified oral glucose tolerance test checks how well insulin works with tissues to absorb glucose. A health care provider performs the test during an office visit or in a commercial facility and sends the blood samples to a lab for analysis. The person should fasteat or drink nothing except waterfor at least 8 hours before the test. The health care provider will measure blood glucose concentration, hematocritthe amount of red blood cells in the bloodpulse rate, and blood pressure before the test begins. After the initial measurements, the person drinks a glucose solution. The health care provider repeats the initial measurements immediately and at 30-minute intervals for up to 180 minutes. A health care provider often confirms dumping syndrome in people with - low blood sugar between 120 and 180 minutes after drinking the solution - an increase in hematocrit of more than 3 percent at 30 minutes - a rise in pulse rate of more than 10 beats per minute after 30 minutes - A gastric emptying scintigraphy test involves eating a bland mealsuch as eggs or an egg substitutethat contains a small amount of radioactive material. A specially trained technician performs this test in a radiology center or hospital, and a radiologista doctor who specializes in medical imaginginterprets the results. Anesthesia is not needed. An external camera scans the abdomen to locate the radioactive material. The radiologist measures the rate of gastric emptying at 1, 2, 3, and 4 hours after the meal. The test can help confirm a diagnosis of dumping syndrome.
- An upper GI endoscopy involves using an endoscopea small, flexible tube with a lightto see the upper GI tract. A gastroenterologista doctor who specializes in digestive diseasesperforms the test at a hospital or an outpatient center. The gastroenterologist carefully feeds the endoscope down the esophagus and into the stomach and duodenum. A small camera mounted on the endoscope transmits a video image to a monitor, allowing close examination of the intestinal lining. A person may receive general anesthesia or a liquid anesthetic that is gargled or sprayed on the back of the throat. If the person receives general anesthesia, a health care provider will place an intravenous (IV) needle in a vein in the arm. The test may show ulcers, swelling of the stomach lining, or cancer. - An upper GI series examines the small intestine. An x-ray technician performs the test at a hospital or an outpatient center and a radiologist interprets the images. Anesthesia is not needed. No eating or drinking is allowed before the procedure, as directed by the health care staff. During the procedure, the person will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. Barium coats the small intestine, making signs of a blockage or other complications of gastric surgery show up more clearly on x rays. |
symptoms | What are the symptoms of Thrombocytopenia with elevated serum IgA and renal disease ? | What are the signs and symptoms of Thrombocytopenia with elevated serum IgA and renal disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Thrombocytopenia with elevated serum IgA and renal 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) Abnormal bleeding - Glomerulonephritis - Hematuria - Increased IgA level - Thrombocytopenia - 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. |
information | What is (are) Osteoporosis ? | Osteoporosis is a disease that thins and weakens the bones to the point that they break easily. Women and men with osteoporosis most often break bones in the hip, spine, and wrist, but osteoporosis can be the cause of bone fractures anywhere. |
information | What is (are) Pachygyria ? | Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system. With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat. The condition is also known as "incomplete lissencephaly." Pachygyria may occur alone (isolated) or as part of various underlying syndromes. Symptoms vary among affected people and may include moderate to severe developmental delay, seizures, poor muscle tone and control, feeding or swallowing difficulties, and small head size (microcephaly). In most cases it is not inherited, but various inheritance patterns have been reported. Treatment is symptomatic and supportive. |
causes | What causes Osteochondritis dissecans ? | What causes osteochondritis dissecans? In most cases, the exact underlying cause of osteochondritis dissecans is not completely understood. Scientists suspect that it may be due to decreased blood flow to the end of the affected bone, which may occur when repetitive episodes of minor injury and/or stress damage a bone overtime. In some families, osteochondritis dissecans is caused by changes (mutations) in the ACAN gene. In these cases, which are referred to as familial osteochondritis dissecans, the condition generally affects multiple joints and is also associated with short stature and early-onset osteoarthritis. The ACAN gene encodes a protein that is important to the structure of cartilage. Mutations in this gene weaken cartilage, which leads to the various signs and symptoms of familial osteochondritis disssecans. |
information | What is (are) Chorea-acanthocytosis ? | Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. Chorea-acanthocytosis is caused by mutations in the VPS13A gene and is inherited in an autosomal recessive manner. There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive. |
information | What is (are) Kienbock's disease ? | Kienbock's disease is a condition characterized by interruption of blood supply to one of the small bones of the hand near the wrist (the lunate). If blood supply to a bone stops, the bone can die; this is known as osteonecrosis. Affected people may first think they have a sprained wrist and may have experienced trauma to the wrist, which can disrupt the blood flow to the lunate. As the disease progresses, signs and symptoms may include a painful and/or swollen wrist; stiffness; decreased grip strength; tenderness directly over the bone; and pain or difficulty in turning the hand upward. The underlying cause of Kienbock's disease is unknown. Treatment aims to relieve the pressure on the bone and restore blood flow within the bone. Surgery may be recommended. |
information | What is (are) Prosthetic joint infection ? | A prosthetic joint infection (PJI) is a rare complication of joint replacement surgery, also known as arthroplasty. Arthroplasty is done to help relieve pain and restore function in a severely diseased joint, such as a knee, hip or shoulder. Approximately 0.5 to 1 percent of people with replacement joints develop a PJI. Infections can occur early in the course of recovery from joint replacement surgery (within the first two months) or much later. Signs and symptoms of PJI include fever, chills, drainage from the surgical site, and increasing redness, tenderness, swelling and pain of the affected joint. Prosthetic joint infections are often hard to treat because of the development of a structure called a biofilm within the joint. A biofilm develops when bacteria adhere to the solid surface of the artificial joint. The biofilm can act as a kind of shield to some of the bacteria, making it difficult for the bacteria to be found and destroyed by the body's defenses or by antibiotic medications. An infected joint replacement usually requires surgery to remove the artificial parts and potent antibiotics to kill the bacteria. |
treatment | What are the treatments for Polymyositis ? | There is no cure for polymyositis, but the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The standard treatment for polymyositis is a corticosteroid drug, given either in pill form or intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. Periodic treatment using intravenous immunoglobulin can also improve recovery. Other immunosuppressive agents used to treat the inflammation associated with polymyositis include cyclosporine A, cyclophosphamide, and tacrolimus. Physical therapy is usually recommended to prevent muscle atrophy and to regain muscle strength and range of motion. |
information | What is (are) Churg Strauss syndrome ? | Churg Strauss syndrome is a condition characterized by asthma, high levels of eosinophils (a type of white blood cell that helps fight infection), and inflammation of small to medium sized blood vessels (vasculitis). The inflamed vessels can affect various organ systems including the lungs, gastrointestinal tract, skin, heart and nervous system. The exact cause of Churg Strauss syndrome is unknown, but it is thought to be an autoimmune disorder. Treatment may involve the use of glucocorticoids and/or other immunosuppressive therapies. |
information | What is (are) mitochondrial trifunctional protein deficiency ? | Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of mitochondrial trifunctional protein deficiency may begin during infancy or later in life. Features that occur during infancy include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), and liver problems. Infants with this disorder are also at high risk for serious heart problems, breathing difficulties, coma, and sudden death. Signs and symptoms of mitochondrial trifunctional protein deficiency that may begin after infancy include hypotonia, muscle pain, a breakdown of muscle tissue, and a loss of sensation in the extremities (peripheral neuropathy). Problems related to mitochondrial trifunctional protein deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections. |
outlook | What is the outlook for Tethered Spinal Cord Syndrome ? | With treatment, individuals with tethered spinal cord syndrome have a normal life expectancy. However, some neurological and motor impairments may not be fully correctable. Surgery soon after symptoms emerge appears to improve chances for recovery and can prevent further functional decline. |
symptoms | What are the symptoms of Isolated corpus callosum agenesis ? | What are the signs and symptoms of Isolated corpus callosum agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated corpus callosum agenesis. 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) Aplasia/Hypoplasia of the corpus callosum 90% Cognitive impairment 90% Abnormality of the fontanelles or cranial sutures 50% EEG abnormality 50% Microcephaly 50% Abnormality of the pulmonary artery 7.5% Abnormality of the ureter 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Chorioretinal coloboma 7.5% Cleft palate 7.5% Dandy-Walker malformation 7.5% Deeply set eye 7.5% Displacement of the external urethral meatus 7.5% Frontal bossing 7.5% Macrocephaly 7.5% Strabismus 7.5% Agenesis of corpus callosum - Autosomal recessive inheritance - Camptodactyly - Growth delay - Intellectual disability - Joint contracture of the hand - Preauricular skin tag - Prominent forehead - 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 Gardner syndrome ? | How might Gardner syndrome be treated? Although there is no cure for Gardner syndrome, treatment and management options are available to reduce the risk of cancer. For example, affected people typically undergo regular screening for the various polyps and tumors associated with Gardner syndrome to permit early diagnosis and treatment. This screening regimen may include: Sigmoidoscopy or colonoscopy every one to two years, beginning at age ten to 12 years. Once polyps are detected, colonoscopy is recommended annually until colectomy (removal of colon). EGD (esophagogastroduodenoscopy) beginning by age 25 and repeated every one to three years. Annual physical examination, including a thorough thyroid evaluation beginning in the late teenage years. Screening for desmoid tumors and hepatoblastoma (a specific type of liver cancer that is diagnosed in young children) may also be recommended in some people. A colectomy is usually recommended when more than 20 or 30 polyps and/or multiple advanced polyps are identified. Sulindac, a nonsteroidal anti-inflammatory drug (NSAIDs), is sometimes prescribed in people with Gardner syndrome who have had a colectomy to treat polyps in the remaining rectum. Treatment for desmoid tumors varies depending on the size and location of the tumor, but may include watchful waiting, surgery, NSAIDS, anti-estrogen medications, chemotherapy and/or radiation therapy. Osteomas (bony growths) may be removed for cosmetic reasons. Treatment of epidermoid cysts in Gardner syndrome is similar to that used for ordinary cysts and involves excision. For more information on the treatment and management of Gardner syndrome, please click here. |
symptoms | What are the symptoms of Plasminogen activator inhibitor type 1 deficiency ? | What are the signs and symptoms of Plasminogen activator inhibitor type 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Plasminogen activator inhibitor type 1 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital onset - Menorrhagia - 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 Balance Problems ? | Some balance disorders are caused by problems in the inner ear. The part of the inner ear that is responsible for balance is the vestibular system, often refered to as the labyrinth. When the labyrinth becomes infected or swollen -- a condition called labyrinthitis -- it is typically accompanied by vertigo and imbalance. Upper respiratory infections, other viral infections, and, less commonly, bacterial infections, can lead to labyrinthitis. Other balance disorders may involve another part of the body, such as the brain or the heart. For example, diseases of the circulatory system, such as stroke, can cause dizziness and other balance problems. Smoking and diabetes can increase the risk of stroke. Low blood pressure also can cause dizziness. Aging, infections, head injury, and many medicines may also result in a balance problem. |
treatment | What are the treatments for episodic ataxia ? | These resources address the diagnosis or management of episodic ataxia: - Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) - Gene Review: Gene Review: Episodic Ataxia Type 1 - Gene Review: Gene Review: Episodic Ataxia Type 2 - Genetic Testing Registry: Episodic ataxia type 1 - Genetic Testing Registry: Episodic ataxia type 2 - Genetic Testing Registry: Episodic ataxia, type 3 - Genetic Testing Registry: Episodic ataxia, type 4 - Genetic Testing Registry: Episodic ataxia, type 7 - MedlinePlus Encyclopedia: Movement - uncoordinated - MedlinePlus Encyclopedia: Vertigo-associated disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
inheritance | Is hyperkalemic periodic paralysis 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. |
frequency | How many people are affected by tibial muscular dystrophy ? | Tibial muscular dystrophy is most common in Finland, where it is estimated to affect at least 10 per 100,000 people. This condition has also been found in people of Finnish descent living in other countries. Additionally, tibial muscular dystrophy has been identified in several European families without Finnish ancestry. |
treatment | What are the treatments for Schimke immunoosseous dysplasia ? | How might Schimke immunoosseous dysplasia be treated? Treatment of Schimke immunoosseous dysplasia (SIOD) is based on addressing individual symptoms as they develop. Renal transplantation can treat the renal disease, and bone marrow transplantation has been done to treat the immunodeficiency. Blood thinning medications can transiently improve blood flow through the atherosclerotic arteries but do not provide enduring relief from cerebral ischemia. Treatment with acyclovir and some antibacterial agents has been beneficial for preventing of reducing the frequency of opportunistic infections. More detailed information about treatment for SIOD can be found on the GeneReview's Web site. Click on the GeneReview link to read more. |
symptoms | What are the symptoms of Giant congenital nevus ? | What are the signs and symptoms of Giant congenital nevus? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant congenital nevus. 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) Hypertrichosis 50% Hydrocephalus 7.5% Hypopigmented skin patches 7.5% Pruritus 7.5% Sarcoma 7.5% Seizures 7.5% Autosomal dominant inheritance - Broad forehead - Broad nasal tip - Congenital giant melanocytic nevus - Cutaneous melanoma - Deep philtrum - Full cheeks - Long philtrum - Narrow nasal ridge - Open mouth - Periorbital fullness - Prominence of the premaxilla - Prominent forehead - Round face - Short nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) cyclic vomiting syndrome ? | Cyclic vomiting syndrome is a disorder that causes recurrent episodes of nausea, vomiting, and tiredness (lethargy). This condition is diagnosed most often in young children, but it can affect people of any age. The episodes of nausea, vomiting, and lethargy last anywhere from an hour to 10 days. An affected person may vomit several times per hour, potentially leading to a dangerous loss of fluids (dehydration). Additional symptoms can include unusually pale skin (pallor), abdominal pain, diarrhea, headache, fever, and an increased sensitivity to light (photophobia) or to sound (phonophobia). In most affected people, the signs and symptoms of each attack are quite similar. These attacks can be debilitating, making it difficult for an affected person to go to work or school. Episodes of nausea, vomiting, and lethargy can occur regularly or apparently at random, or can be triggered by a variety of factors. The most common triggers are emotional excitement and infections. Other triggers can include periods without eating (fasting), temperature extremes, lack of sleep, overexertion, allergies, ingesting certain foods or alcohol, and menstruation. If the condition is not treated, episodes usually occur four to 12 times per year. Between attacks, vomiting is absent, and nausea is either absent or much reduced. However, many affected people experience other symptoms during and between episodes, including pain, lethargy, digestive disorders such as gastroesophageal reflux and irritable bowel syndrome, and fainting spells (syncope). People with cyclic vomiting syndrome are also more likely than people without the disorder to experience depression, anxiety, and panic disorder. It is unclear whether these health conditions are directly related to nausea and vomiting. Cyclic vomiting syndrome is often considered to be a variant of migraines, which are severe headaches often associated with pain, nausea, vomiting, and extreme sensitivity to light and sound. Cyclic vomiting syndrome is likely the same as or closely related to a condition called abdominal migraine, which is characterized by attacks of stomach pain and cramping. Attacks of nausea, vomiting, or abdominal pain in childhood may be replaced by migraine headaches as an affected person gets older. Many people with cyclic vomiting syndrome or abdominal migraine have a family history of migraines. Most people with cyclic vomiting syndrome have normal intelligence, although some affected people have developmental delay or intellectual disability. Autism spectrum disorders, which affect communication and social interaction, have also been associated with cyclic vomiting syndrome. Additionally, muscle weakness (myopathy) and seizures are possible. People with any of these additional features are said to have cyclic vomiting syndrome plus. |
symptoms | What are the symptoms of VACTERL association ? | What are the signs and symptoms of VACTERL association? The Human Phenotype Ontology provides the following list of signs and symptoms for VACTERL association. 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) Aplasia/Hypoplasia of the lungs 90% Polyhydramnios 90% Premature birth 90% Tracheal stenosis 90% Tracheoesophageal fistula 90% Urogenital fistula 90% Abnormal localization of kidney 50% Abnormality of the cardiac septa 50% Aplasia/Hypoplasia of the radius 50% Congenital diaphragmatic hernia 50% Laryngomalacia 50% Renal hypoplasia/aplasia 50% Vertebral segmentation defect 50% Abnormality of female internal genitalia 7.5% Abnormality of the fontanelles or cranial sutures 7.5% Abnormality of the gallbladder 7.5% Abnormality of the intervertebral disk 7.5% Abnormality of the pancreas 7.5% Abnormality of the ribs 7.5% Abnormality of the sacrum 7.5% Anencephaly 7.5% Bifid scrotum 7.5% Cavernous hemangioma 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Encephalocele 7.5% Finger syndactyly 7.5% Hypoplasia of penis 7.5% Intrauterine growth retardation 7.5% Low-set, posteriorly rotated ears 7.5% Multicystic kidney dysplasia 7.5% Non-midline cleft lip 7.5% Omphalocele 7.5% Preaxial hand polydactyly 7.5% Single umbilical artery 7.5% Abnormality of the nasopharynx - Abnormality of the sternum - Absent radius - Anal atresia - Choanal atresia - Ectopic kidney - Esophageal atresia - Failure to thrive - Hydronephrosis - Hypoplasia of the radius - Hypospadias - Large fontanelles - Laryngeal stenosis - Occipital encephalocele - Patent ductus arteriosus - Patent urachus - Postnatal growth retardation - Radioulnar synostosis - Renal agenesis - Renal dysplasia - Scoliosis - Short thumb - Spina bifida - Sporadic - Syndactyly - Tethered cord - Tetralogy of Fallot - Transposition of the great arteries - Triphalangeal thumb - Ureteropelvic junction obstruction - Ventricular septal defect - Vesicoureteral reflux - 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 Thrombocytopenia ? | Many factors can cause thrombocytopenia (a low platelet count). The condition can be inherited or acquired. "Inherited" means your parents pass the gene for the condition to you. "Acquired" means you aren't born with the condition, but you develop it. Sometimes the cause of thrombocytopenia isn't known.
In general, a low platelet count occurs because:
The body's bone marrow doesn't make enough platelets.
The bone marrow makes enough platelets, but the body destroys them or uses them up.
The spleen holds on to too many platelets.
A combination of the above factors also may cause a low platelet count.
The Bone Marrow Doesn't Make Enough Platelets
Bone marrow is the sponge-like tissue inside the bones. It contains stem cells that develop into red blood cells, white blood cells, and platelets. When stem cells are damaged, they don't grow into healthy blood cells.
Many conditions and factors can damage stem cells.
Cancer
Cancer, such as leukemia (lu-KE-me-ah) or lymphoma (lim-FO-ma), can damage the bone marrow and destroy blood stem cells. Cancer treatments, such as radiation and chemotherapy, also destroy the stem cells.
Aplastic Anemia
Aplastic anemia is a rare, serious blood disorder in which the bone marrow stops making enough new blood cells. This lowers the number of platelets in your blood.
Toxic Chemicals
Exposure to toxic chemicalssuch as pesticides, arsenic, and benzenecan slow the production of platelets.
Medicines
Some medicines, such as diuretics and chloramphenicol, can slow the production of platelets. Chloramphenicol (an antibiotic) rarely is used in the United States.
Common over-the-counter medicines, such as aspirin or ibuprofen, also can affect platelets.
Alcohol
Alcohol also slows the production of platelets. A temporary drop in the platelet count is common among heavy drinkers, especially if they're eating foods that are low in iron, vitamin B12, or folate.
Viruses
Chickenpox, mumps, rubella, Epstein-Barr virus, or parvovirus can decrease your platelet count for a while. People who have AIDS often develop thrombocytopenia.
Genetic Conditions
Some genetic conditions can cause low numbers of platelets in the blood. Examples include Wiskott-Aldrich and May-Hegglin syndromes.
The Body Destroys Its Own Platelets
A low platelet count can occur even if the bone marrow makes enough platelets. The body may destroy its own platelets due to autoimmune diseases, certain medicines, infections, surgery, pregnancy, and some conditions that cause too much blood clotting.
Autoimmune Diseases
Autoimmune diseases occur if the body's immune system mistakenly attacks healthy cells in the body. If an autoimmune disease destroys the body's platelets, thrombocytopenia can occur.
One example of this type of autoimmune disease is immune thrombocytopenia (ITP). ITP is a bleeding disorder in which the blood doesn't clot as it should. An autoimmune response is thought to cause most cases of ITP.
Normally, your immune system helps your body fight off infections and diseases. But if you have ITP, your immune system attacks and destroys its own platelets. Why this happens isn't known. (ITP also may occur if the immune system attacks your bone marrow, which makes platelets.)
Other autoimmune diseases that destroy platelets include lupus and rheumatoid arthritis.
Medicines
A reaction to medicine can confuse your body and cause it to destroy its platelets. Examples of medicines that may cause this to happen include quinine; antibiotics that contain sulfa; and some medicines for seizures, such as Dilantin, vancomycin, and rifampin. (Quinine is a substance often found in tonic water and nutritional health products.)
Heparin is a medicine commonly used to prevent blood clots. But an immune reaction may trigger the medicine to cause blood clots and thrombocytopenia. This condition is called heparin-induced thrombocytopenia (HIT). HIT rarely occurs outside of a hospital.
In HIT, the body's immune system attacks a substance formed by heparin and a protein on the surface of the platelets. This attack activates the platelets and they start to form blood clots.
Blood clots can form deep in the legs (deep vein thrombosis), or they can break loose and travel to the lungs (pulmonary embolism).
Infection
A low platelet count can occur after blood poisoning from a widespread bacterial infection. A virus, such as mononucleosis or cytomegalovirus, also can cause a low platelet count.
Surgery
Platelets can be destroyed when they pass through man-made heart valves, blood vessel grafts, or machines and tubing used for blood transfusions or bypass surgery.
Pregnancy
About 5 percent of pregnant women develop mild thrombocytopenia when they're close to delivery. The exact cause isn't known for sure.
Rare and Serious Conditions That Cause Blood Clots
Some rare and serious conditions can cause a low platelet count. Two examples are thrombotic thrombocytopenic purpura (TTP) and disseminated intravascular coagulation (DIC).
TTP is a rare blood condition. It causes blood clots to form in the body's small blood vessels, including vessels in the brains, kidneys, and heart.
DIC is a rare complication of pregnancy, severe infections, or severe trauma. Tiny blood clots form suddenly throughout the body.
In both conditions, the blood clots use up many of the blood's platelets.
The Spleen Holds On to Too Many Platelets
Usually, one-third of the body's platelets are held in the spleen. If the spleen is enlarged, it will hold on to too many platelets. This means that not enough platelets will circulate in the blood.
An enlarged spleen often is due to cancer or severe liver disease, such as cirrhosis (sir-RO-sis). Cirrhosis is a disease in which the liver is scarred. This prevents it from working well.
An enlarged spleen also might be due to a bone marrow condition, such as myelofibrosis (MI-eh-lo-fi-BRO-sis). With this condition, the bone marrow is scarred and isn't able to make blood cells. |
treatment | What are the treatments for Small Cell Lung Cancer ? | Key Points
- There are different types of treatment for patients with small cell lung cancer. - Five types of standard treatment are used: - Surgery - Chemotherapy - Radiation therapy - Laser therapy - Endoscopic stent placement - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed.
There are different types of treatment for patients with small cell lung cancer.
Different types of treatment are available for patients with small cell lung cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.
Five types of standard treatment are used:
Surgery Surgery may be used if the cancer is found in one lung and in nearby lymph nodes only. Because this type of lung cancer is usually found in both lungs, surgery alone is not often used. During surgery, the doctor will also remove lymph nodes to find out if they have cancer in them. Sometimes, surgery may be used to remove a sample of lung tissue to find out the exact type of lung cancer. Even if the doctor removes all the cancer that can be seen at the time of the operation, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Small Cell Lung Cancer for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat small cell lung cancer, and may also be used as palliative therapy to relieve symptoms and improve quality of life. Radiation therapy to the brain to lessen the risk that cancer will spread to the brain may also be given. Laser therapy Laser therapy is a cancer treatment that uses a laser beam (a narrow beam of intense light) to kill cancer cells. Endoscopic stent placement An endoscope is a thin, tube-like instrument used to look at tissues inside the body. An endoscope has a light and a lens for viewing and may be used to place a stent in a body structure to keep the structure open. An endoscopic stent can be used to open an airway blocked by abnormal tissue.
New types of treatment are being tested in clinical trials.
Information about clinical trials is available from the NCI website.
Patients may want to think about taking part in a clinical trial.
For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
Patients can enter clinical trials before, during, or after starting their cancer treatment.
Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.
Follow-up tests may be needed.
Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.
Treatment Options by Stage
Limited-Stage Small Cell Lung Cancer
Treatment of limited-stage small cell lung cancer may include the following: - Combination chemotherapy and radiation therapy to the chest. Radiation therapy to the brain may later be given to patients with complete responses. - Combination chemotherapy alone for patients who cannot be given radiation therapy. - Surgery followed by chemotherapy. - Surgery followed by chemotherapy and radiation therapy. - Radiation therapy to the brain may be given to patients who have had a complete response, to prevent the spread of cancer to the brain. - Clinical trials of new chemotherapy, surgery, and radiation treatments. Check the list of NCI-supported cancer clinical trials that are now accepting patients with limited stage small cell lung cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
Extensive-Stage Small Cell Lung Cancer
Treatment of extensive-stage small cell lung cancer may include the following: - Combination chemotherapy. - Radiation therapy to the brain, spine, bone, or other parts of the body where the cancer has spread, as palliative therapy to relieve symptoms and improve quality of life. - Radiation therapy to the chest may be given to patients who respond to chemotherapy. - Radiation therapy to the brain may be given to patients who have had a complete response, to prevent the spread of cancer to the brain. - Clinical trials of new chemotherapy treatments. Check the list of NCI-supported cancer clinical trials that are now accepting patients with extensive stage small cell lung cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. |
treatment | What are the treatments for epidermolysis bullosa simplex ? | These resources address the diagnosis or management of epidermolysis bullosa simplex: - Dystrophic Epidermolysis Bullosa Research Association (DebRA) of America: Wound Care - Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center - Gene Review: Gene Review: Epidermolysis Bullosa Simplex - Genetic Testing Registry: Epidermolysis bullosa simplex - Genetic Testing Registry: Epidermolysis bullosa simplex with mottled pigmentation - Genetic Testing Registry: Epidermolysis bullosa simplex, Cockayne-Touraine type - Genetic Testing Registry: Epidermolysis bullosa simplex, Koebner type - Genetic Testing Registry: Epidermolysis bullosa simplex, Ogna type - Genetic Testing Registry: Epidermolysis bullosa simplex, autosomal recessive - MedlinePlus Encyclopedia: Epidermolysis Bullosa 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 |
exams and tests | How to diagnose Leukemia ? | There are no standard or over-the-counter tests for leukemia. Your doctor can request lab analyses for leukemia that include blood tests that check the levels and types of blood cells and look for changes in the shape of blood cells. The doctor may also look for signs of leukemia in the bone marrow or the fluid around the brain or the spinal cord |
symptoms | What are the symptoms of Gamma heavy chain disease ? | What are the symptoms of gamma heavy chain disease? The severity of symptoms varies widely among people with gamma heavy chain disease. Symptoms include, fever, mild anemia, difficulty swallowing (dysphagia), recurrent upper respiratory infections, and enlarged liver and spleen (hepatosplenomegaly). |
inheritance | Is microvillus inclusion disease 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. |
symptoms | What are the symptoms of Omsk Hemorrhagic Fever (OHF) ? | After an incubation period of 3-8 days, the symptoms of OHF begin suddenly with chills, fever, headache, and severe muscle pain with vomiting, gastrointestinal symptoms and bleeding problems occurring 3-4 days after initial symptom onset. Patients may experience abnormally low blood pressure and low platelet, red blood cell, and white blood cell counts.
After 1-2 weeks of symptoms, some patients recover without complication. However, the illness is biphasic for a subset of patients who experience a second wave of symptoms at the beginning of the third week. These symptoms include fever and encephalitis (inflammation of the brain).
The case fatality rate of OHF is low (0.5% to 3%). |
treatment | What are the treatments for Transmissible Spongiform Encephalopathies ? | TSEs tend to progress rapidly and usually culminate in death over the course of a few months to a few years. |
frequency | How many people are affected by essential pentosuria ? | Essential pentosuria occurs almost exclusively in individuals with Ashkenazi Jewish ancestry. Approximately 1 in 3,300 people in this population are affected. |
information | What is (are) Peyronie disease ? | Peyronie disease is a connective tissue disorder characterized by a plaque, or hard lump, that forms within the penis. Affected individuals may experience painful, curved erections which can make make normal sexual intercourse impossible. Symptoms may appear suddenly or develop gradually. While the painful erections for most men resolve over time, the scar tissue and curvature may remain. Some cases appear to resolve spontaneously. The exact cause of Peyronie's disease is not known. |
causes | What causes Bronchopulmonary Dysplasia ? | Bronchopulmonary dysplasia (BPD) develops as a result of an infant's lungs becoming irritated or inflamed.
The lungs of premature infants are fragile and often aren't fully developed. They can easily be irritated or injured within hours or days of birth. Many factors can damage premature infants' lungs.
Ventilation
Newborns who have breathing problems or can't breathe on their own may need ventilator support. Ventilators are machines that use pressure to blow air into the airways and lungs.
Although ventilator support can help premature infants survive, the machine's pressure might irritate and harm the babies' lungs. For this reason, doctors only recommend ventilator support when necessary.
High Levels of Oxygen
Newborns who have breathing problems might need oxygen therapy (oxygen given through nasal prongs, a mask, or a breathing tube). This treatment helps the infants' organs get enough oxygen to work well.
However, high levels of oxygen can inflame the lining of the lungs and injure the airways. Also, high levels of oxygen can slow lung development in premature infants.
Infections
Infections can inflame the lungs. As a result, the airways narrow, which makes it harder for premature infants to breathe. Lung infections also increase the babies' need for extra oxygen and breathing support.
Heredity
Studies show that heredity may play a role in causing BPD. More studies are needed to confirm this finding. |
genetic changes | What are the genetic changes related to Tangier disease ? | Mutations in the ABCA1 gene cause Tangier disease. This gene provides instructions for making a protein that releases cholesterol and phospholipids from cells. These substances are used to make HDL, which transports them to the liver. Mutations in the ABCA1 gene prevent the release of cholesterol and phospholipids from cells. As a result, these substances accumulate within cells, causing certain body tissues to enlarge and the tonsils to acquire a yellowish-orange color. A buildup of cholesterol can be toxic to cells, leading to impaired cell function or cell death. In addition, the inability to transport cholesterol and phospholipids out of cells results in very low HDL levels, which increases the risk of cardiovascular disease. These combined factors cause the signs and symptoms of Tangier disease. |
information | What is (are) Retinochoroidal coloboma ? | Retinochoroidal coloboma is an eye abnormality that occurs before birth. It is characterized by missing pieces of tissue in both the retina (the light-sensitive tissue lining the back of the eye) and choroid (the blood vessel layer under the retina). In many cases, retinochoroidal coloboma does not cause symptoms. However, complications such as retinal detachment may occur at any age. Other possible complications include loss of visual clarity or distorted vision; cataract; and abnormal blood vessel growth in the choroid (choroidal neovascularization). Retinochoroidal coloboma can involve one or both eyes, and may occur alone or in association with other birth defects. It can be inherited or can occur sporadically. |
treatment | What are the treatments for alveolar capillary dysplasia with misalignment of pulmonary veins ? | These resources address the diagnosis or management of ACD/MPV: - Genetic Testing Registry: Alveolar capillary dysplasia with misalignment of pulmonary veins - MedlinePlus Encyclopedia: Alveolar Abnormalities 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 Problems with Smell ? | The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. These chemosensory scientists are exploring how to - promote the regeneration of sensory nerve cells - understand the effects of the environment (such as gasoline fumes, chemicals, and extremes of humidity and temperature) on smell and taste - prevent the effects of aging on smell and taste - develop new diagnostic tests for taste and smell disorders - understand associations between smell disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses. promote the regeneration of sensory nerve cells understand the effects of the environment (such as gasoline fumes, chemicals, and extremes of humidity and temperature) on smell and taste prevent the effects of aging on smell and taste develop new diagnostic tests for taste and smell disorders understand associations between smell disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses. |
information | What is (are) Gaucher Disease ? | Gaucher disease is a rare, inherited disorder in which you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This prevents these organs from working properly. There are three types: - Type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. It does not affect the brain. It can occur at any age. - Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2. - In type 3, there may be liver and spleen enlargement. The brain is gradually affected. It usually starts in childhood or adolescence. Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3. NIH: National Institute of Neurological Disorders and Stroke |
information | What is (are) Tracheal agenesis ? | Tracheal agenesis is a rare birth defect in which the trachea (windpipe) is completely absent (agenesis) or significantly underdeveloped (atresia). Signs and symptoms include polyhydramnios during pregnancy and respiratory distress, bluish skin color (cyanosis) and no audible cry shortly after birth. The underlying cause of tracheal agenesis is currently unknown. Approximately 90% of cases are associated with other anomalies, including those of the cardiovascular system, the gastrointestinal system and the genitourinary tract. Some cases may be part of a very rare condition known as VACTERL association. Surgery to repair the trachea may be attempted; however, the long-term outlook is generally poor in most cases. |
outlook | What is the outlook for Breast Cancer ? | Certain factors affect prognosis (chance of recovery) and treatment options.The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (the size of the tumor and whether it is in the breast only or has spread to other parts of the body). - The type of breast cancer. - The age of the unborn baby. - Whether there are signs or symptoms. - The patients general health. |
treatment | What are the treatments for atelosteogenesis type 3 ? | These resources address the diagnosis or management of atelosteogenesis type 3: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Atelosteogenesis type 3 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) Renpenning syndrome ? | Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features. Individuals with Renpenning syndrome typically have short stature and a small head size (microcephaly). Facial features characteristic of this disorder include a long, narrow face; outside corners of the eyes that point upward (upslanting palpebral fissures); a long, bulbous nose with a low-hanging separation between the nostrils (overhanging columella); a shortened space between the nose and mouth (philtrum); and cup-shaped ears. Males with Renpenning syndrome generally have small testes. Seizures and wasting away (atrophy) of muscles used for movement (skeletal muscles) may also occur in this disorder. About 20 percent of individuals with Renpenning syndrome also have other features, which may include a gap or split in structures that make up the eye (coloboma), an opening in the roof of the mouth (cleft palate), heart abnormalities, or malformations of the anus. Certain combinations of the features that often occur in Renpenning syndrome are sometimes called by other names, such as Golabi-Ito-Hall syndrome or Sutherland-Haan syndrome. However, all these syndromes, which have the same genetic cause, are now generally grouped under the term Renpenning syndrome. |
symptoms | What are the symptoms of Refsum disease, infantile form ? | What are the signs and symptoms of Refsum disease, infantile form? The Human Phenotype Ontology provides the following list of signs and symptoms for Refsum disease, infantile form. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Hepatomegaly 90% Nyctalopia 90% Short stature 90% Skeletal muscle atrophy 90% Visual impairment 90% Behavioral abnormality 50% Hypertonia 50% Incoordination 50% Muscular hypotonia 50% Nystagmus 50% Sensorineural hearing impairment 50% Abnormality of epiphysis morphology 7.5% Arrhythmia 7.5% Cataract 7.5% Facial palsy 7.5% Hypertrophic cardiomyopathy 7.5% Ichthyosis 7.5% Optic atrophy 7.5% Seizures 7.5% Abnormal bleeding - Abnormal electroretinogram - Abnormal facial shape - Autosomal recessive inheritance - Congenital onset - Depressed nasal ridge - Failure to thrive - Flat face - Hypocholesterolemia - Hyporeflexia - Intellectual disability - Malar flattening - Osteoporosis - Polyneuropathy - Rod-cone dystrophy - Single transverse palmar crease - Steatorrhea - Very long chain fatty acid accumulation - 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) ALG1-congenital disorder of glycosylation ? | ALG1-congenital disorder of glycosylation (ALG1-CDG, also known as congenital disorder of glycosylation type Ik) is an inherited disorder with varying signs and symptoms that typically develop during infancy and can affect several body systems. Individuals with ALG1-CDG often have intellectual disability, delayed development, and weak muscle tone (hypotonia). Many affected individuals develop seizures that can be difficult to treat. Individuals with ALG1-CDG may also have movement problems such as involuntary rhythmic shaking (tremor) or difficulties with movement and balance (ataxia). People with ALG1-CDG often have problems with blood clotting, which can lead to abnormal clotting or bleeding episodes. Additionally, affected individuals may produce abnormally low levels of proteins called antibodies (or immunoglobulins), particularly immunoglobulin G (IgG). Antibodies help protect the body against infection by foreign particles and germs. A reduction in antibodies can make it difficult for affected individuals to fight infections. Some people with ALG1-CDG have physical abnormalities such as a small head size (microcephaly); unusual facial features; joint deformities called contractures; long, slender fingers and toes (arachnodactyly); or unusually fleshy pads at the tips of the fingers and toes. Eye problems that may occur in people with this condition include eyes that do not point in the same direction (strabismus) or involuntary eye movements (nystagmus). Rarely, affected individuals develop vision loss. Less common abnormalities that occur in people with ALG1-CDG include respiratory problems, reduced sensation in their arms and legs (peripheral neuropathy), swelling (edema), and gastrointestinal difficulties. The signs and symptoms of ALG1-CDG are often severe, with affected individuals surviving only into infancy or childhood. However, some people with this condition are more mildly affected and survive into adulthood. |
genetic changes | What are the genetic changes related to tumor necrosis factor receptor-associated periodic syndrome ? | TRAPS is caused by mutations in the TNFRSF1A gene. This gene provides instructions for making a protein called tumor necrosis factor receptor 1 (TNFR1). This protein is found within the membrane of cells, where it attaches (binds) to another protein called tumor necrosis factor (TNF). This binding sends signals that can trigger the cell either to initiate inflammation or to self-destruct. Signaling within the cell initiates a pathway that turns on a protein called nuclear factor kappa B that triggers inflammation and leads to the production of immune system proteins called cytokines. The self-destruction of the cell (apoptosis) is initiated when the TNFR1 protein, bound to the TNF protein, is brought into the cell and triggers a process known as the caspase cascade. Most TNFRSF1A gene mutations that cause TRAPS result in a TNFR1 protein that is folded into an incorrect 3-dimensional shape. These misfolded proteins are trapped within the cell and are not able to get to the cell surface to interact with TNF. Inside the cell, these proteins clump together and are thought to trigger alternative pathways that initiate inflammation. The clumps of protein constantly activate these alternative inflammation pathways, leading to excess inflammation in people with TRAPS. Additionally, because only one copy of the TNFRSF1A gene has a mutation, some normal TNFR1 proteins are produced and can bind to the TNF protein, leading to additional inflammation. It is unclear if disruption of the apoptosis pathway plays a role in the signs and symptoms of TRAPS. |
information | What is (are) Limited cutaneous systemic sclerosis ? | Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms. The exact cause of limited cutaneous systemic sclerosis is unknown, but likely originates from an autoimmune reaction which leads to overproduction of collagen. In some cases, the condition is associated with exposure to certain chemicals. Management is aimed at treating the symptoms present in each affected individual. |
information | What is (are) Medicare and Continuing Care ? | Here are questions to ask when considering a home health agency. - Is the agency Medicare-approved? - How long has the agency served the community? - Does this agency provide the services my relative or friend needs? - How are emergencies handled? - Is the staff on duty around the clock? - How much do services and supplies cost? - Will agency staff be in regular contact with the doctor? Is the agency Medicare-approved? How long has the agency served the community? Does this agency provide the services my relative or friend needs? How are emergencies handled? Is the staff on duty around the clock? How much do services and supplies cost? Will agency staff be in regular contact with the doctor? You can use Medicare's "Home Health Compare" tool to compare home health agencies in your area. Visit http://www.medicare.gov. Under "Search Tools," select "Compare Home Health Agencies in Your Area." |
inheritance | Is fibrochondrogenesis inherited ? | Fibrochondrogenesis is generally 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 usually do not show signs and symptoms of the condition. In a few reported cases, parents of children with fibrochondrogenesis have had mild features that may be related to the condition, including slightly short stature, myopia, cataracts, joint pain, and hearing loss. In at least one case of fibrochondrogenesis caused by a COL11A2 gene mutation, the condition was inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In this case, the condition resulted from a new (de novo) mutation in the gene that occurred during the formation of reproductive cells (eggs or sperm) in one of the affected individual's parents. There was no history of the disorder in the family. |
information | What is (are) paroxysmal extreme pain disorder ? | Paroxysmal extreme pain disorder is a condition characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. The area of flushing typically corresponds to the site of the pain. The pain attacks experienced by people with paroxysmal extreme pain disorder usually last seconds to minutes, but in some cases can last hours. These attacks can start as early as infancy. Early in life, the pain is typically concentrated in the lower part of the body, especially around the rectum, and is usually triggered by a bowel movement. Some children may develop constipation, which is thought to be due to fear of triggering a pain attack. Pain attacks in these young children may also be accompanied by seizures, slow heartbeat, or short pauses in breathing (apnea). As a person with paroxysmal extreme pain disorder ages, the location of pain changes. Pain attacks switch from affecting the lower body to affecting the head and face, especially the eyes and jaw. Triggers of these pain attacks include changes in temperature (such as a cold wind) and emotional distress as well as eating spicy foods and drinking cold drinks. Paroxysmal extreme pain disorder is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain. |
information | What is (are) Common variable immunodeficiency ? | Common variable immunodeficiency (CVID) is a group of disorders in which the immune system cannot make antibodies against agents that cause infection (such as bacteria). CVID is characterized by low levels of most or all of the immunoglobulin (Ig) classes. This causes affected people to get frequent infections, particularly in the sinuses, lungs, and digestive tract. Symptoms most commonly begin in early adulthood but have been found in children as young as age two. While in most cases the cause of CVID is unknown, it has been associated with changes (mutations) in at least 10 genes. About 10% of cases are due to mutations in the TNFRSF13B gene. Treatment for CVID includes Ig replacement therapy, which stops the cycle of recurrent infections. |
inheritance | Is DOORS 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. |
symptoms | What are the symptoms of Nystagmus, congenital motor, autosomal recessive ? | What are the signs and symptoms of Nystagmus, congenital motor, autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Nystagmus, congenital motor, autosomal recessive. 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 - Congenital nystagmus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
frequency | How many people are affected by renal tubular acidosis with deafness ? | Renal tubular acidosis with deafness is a rare disorder; its prevalence is unknown. |
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