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These resources address the diagnosis or management of FENIB: - Genetic Testing Registry: Familial encephalopathy with neuroserpin inclusion bodies - MedlinePlus Encyclopedia: Dementia - MedlinePlus Encyclopedia: Seizures 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
How might liposarcoma be treated? The treatment for liposarcoma depends on the type, size, and location of the tumor. Surgery to remove the tumor is often the first treatment. When the tumor is in the abdomen, it may be difficult to remove completely, especially if the tumor is growing near important organs that cannot be removed. If the entire tumor cannot be removed during surgery, radiation therapy may be used after surgery to kill any cancer cells that remain to reduce the chance of the tumor coming back (a recurrence). Chemotherapy is another treatment that can kill remaining cancer cells following surgery, though it is not usually used to treat low-grade sarcomas. Sometimes radiation therapy or chemotherapy may be done prior to surgery to shrink the tumor; this may increase the chance of removing the whole tumor during surgery while limiting the impact to other organs.
Once breast cancer has been found, it is staged. Staging means determining how far the cancer has progressed. Through staging, the doctor can tell if the cancer has spread and, if so, to what parts of the body. More tests may be performed to help determine the stage. Knowing the stage of the disease helps the doctor plan treatment. Staging will let the doctor know - the size of the tumor and exactly where it is in the breast. - if the cancer has spread within the breast. - if cancer is present in the lymph nodes under the arm. - If cancer is present in other parts of the body. the size of the tumor and exactly where it is in the breast. if the cancer has spread within the breast. if cancer is present in the lymph nodes under the arm. If cancer is present in other parts of the body. Read more details about the stages of breast cancer.
What are the signs and symptoms of Absence of Tibia? The Human Phenotype Ontology provides the following list of signs and symptoms for Absence of Tibia. 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) Absent tibia - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
A fall can change your life. If you're elderly, it can lead to disability and a loss of independence. If your bones are fragile from osteoporosis, you could break a bone, often a hip. But aging alone doesn't make people fall. Diabetes and heart disease affect balance. So do problems with circulation, thyroid or nervous systems. Some medicines make people dizzy. Eye problems or alcohol can be factors. Any of these things can make a fall more likely. Babies and young children are also at risk of falling - off of furniture and down stairs, for example. Falls and accidents seldom "just happen." Taking care of your health by exercising and getting regular eye exams and physicals may help reduce your chance of falling. Getting rid of tripping hazards in your home and wearing nonskid shoes may also help. To reduce the chances of breaking a bone if you do fall, make sure that you get enough calcium and vitamin D. NIH: National Institute on Aging
Primary melanoma of the gastrointestinal (GI) tract refers to a melanoma starting in the stomach, intestines, salivary glands, mouth, esophagus, liver, pancreas, gallbladder, or rectum. Melanoma is a disease in which malignant (cancer) cells form in the melanocytes. Melanocytes are commonly found in the skin and are the cells that give the skin color. While it is not uncommon for melanomas to start in the skin and later spread to other parts of the body, melanomas originating in the gastrointestinal tract are rare. The most frequently reported site is in the esophagus and anorectum.
Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus). The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.
Dwarfism is a condition that is characterized by short stature, usually resulting in an adult height of 4'10" or shorter. Dwarfism can and most often does occur in families where both parents are of average height. It can be caused by any one of more than 300 conditions, most of which are genetic. The most common type, accounting for 70% of all cases of short stature, is called achondroplasia. Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. Dwarfism itself is not a disease; however, there is a greater risk of some health problems. With proper medical care, most people with dwarfism have active lives and a normal life expectancy.
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.
How is oculopharyngeal muscular dystrophy 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.
What causes mitochondrial genetic disorders? Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria. Most DNA (hereditary material that is passed from parent to child) is packaged within the nucleus of each cell (known as nuclear DNA). However, mitochondria (the structures in each cell that produce energy) contain a small amount of their own DNA, which is known as mitochondrial DNA. When the mitochondria are not working properly, the body does not have enough energy to carry out its normal functions. This can lead to the variety of health problems associated with mitochondrial genetic disorders.
The symptoms of early and late dumping syndrome are different and vary from person to person. Early dumping syndrome symptoms may include - nausea - vomiting - abdominal pain and cramping - diarrhea - feeling uncomfortably full or bloated after a meal - sweating - weakness - dizziness - flushing, or blushing of the face or skin - rapid or irregular heartbeat - hypoglycemia - sweating - weakness - rapid or irregular heartbeat - flushing - dizziness About 75 percent of people with dumping syndrome report symptoms of early dumping syndrome and about 25 percent report symptoms of late dumping syndrome. Some people have symptoms of both types of dumping syndrome.1
Perrault syndrome has several genetic causes. C10orf2, CLPP, HARS2, LARS2, or HSD17B4 gene mutations have been found in a small number of affected individuals. The proteins produced from several of these genes, including C10orf2, CLPP, HARS2, and LARS2, function in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Although the effect of these gene mutations on mitochondrial function is unknown, researchers speculate that disruption of mitochondrial energy production could underlie the signs and symptoms of Perrault syndrome. The protein produced from the HSD17B4 gene is active in cell structures called peroxisomes, which contain a variety of enzymes that break down many different substances in cells. It is not known how mutations in this gene affect peroxisome function or lead to hearing loss in affected males and females and ovarian abnormalities in females with Perrault syndrome. It is likely that other genes that have not been identified are also involved in this condition.
Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys become less able to function as this condition progresses, resulting in end-stage renal disease (ESRD). People with Alport syndrome frequently develop sensorineural hearing loss, which is caused by abnormalities of the inner ear, during late childhood or early adolescence. Affected individuals may also have misshapen lenses in the eyes (anterior lenticonus) and abnormal coloration of the light-sensitive tissue at the back of the eye (retina). These eye abnormalities seldom lead to vision loss. Significant hearing loss, eye abnormalities, and progressive kidney disease are more common in males with Alport syndrome than in affected females.
How might Klumpke paralysis be treated? The affected arm may be immobilized across the body for 7 to 10 days. For mild cases gentle massage of the arm and range-of-motion exercises may be recommended. For torn nerves (avulsion and rupture injuries), symptoms may improve with surgery. Most infants recover from neuropraxia within 4 months. Parents or guardians of infants that show no evidence of spontaneous recovery at 4 months, may be counseled regarding additional treatment options. These treatment options may include: Surgery on the nerves (e.g., nerve grafts and neuroma excision) Tendon transfers to help the muscles that are affected by nerve damage work better
Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) may also occur in this disorder. Hemolytic anemia in GPI deficiency can range from mild to severe. In the most severe cases, affected individuals do not survive to birth. Individuals with milder disease can survive into adulthood. People with any level of severity of the disorder can have episodes of more severe hemolysis, called hemolytic crises, which can be triggered by bacterial or viral infections. A small percentage of individuals with GPI deficiency also have neurological problems, including intellectual disability and difficulty with coordinating movements (ataxia).
Mutations in the IRF6 gene cause popliteal pterygium syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The IRF6 protein is active in cells that give rise to tissues in the head and face. It is also involved in the development of other parts of the body, including the skin and genitals. Mutations in the IRF6 gene that cause popliteal pterygium syndrome may change the transcription factor's effect on the activity of certain genes. This affects the development and maturation of tissues in the face, skin, and genitals, resulting in the signs and symptoms of popliteal pterygium syndrome.
Mutations in the NR0B1 gene cause X-linked adrenal hypoplasia congenita. The NR0B1 gene provides instructions to make a protein called DAX1. This protein plays an important role in the development and function of several hormone-producing (endocrine) tissues including the adrenal glands, two hormone-secreting glands in the brain (the hypothalamus and pituitary), and the gonads (ovaries in females and testes in males). The hormones produced by these glands control many important body functions. Some NR0B1 mutations result in the production of an inactive version of the DAX1 protein, while other mutations delete the entire gene. The resulting shortage of DAX1 disrupts the normal development and function of hormone-producing tissues in the body. The signs and symptoms of adrenal insufficiency and hypogonadotropic hypogonadism occur when endocrine glands do not produce the right amounts of certain hormones.
These resources address the diagnosis or management of Beare-Stevenson cutis gyrata syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Cutis Gyrata syndrome of Beare and Stevenson - MedlinePlus Encyclopedia: Acanthosis Nigricans - MedlinePlus Encyclopedia: Craniosynostosis 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
Summary : Bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains immature cells, called stem cells. The stem cells can develop into red blood cells, which carry oxygen throughout the body, white blood cells, which fight infections, and platelets, which help the blood to clot. A bone marrow transplant is a procedure that replaces a person's faulty bone marrow stem cells. Doctors use these transplants to treat people with certain diseases, such as - Leukemia - Severe blood diseases such as thalassemias, aplastic anemia, and sickle cell anemia - Multiple myeloma - Certain immune deficiency diseases Before you have a transplant, you need to get high doses of chemotherapy and possibly radiation. This destroys the faulty stem cells in your bone marrow. It also suppresses your body's immune system so that it won't attack the new stem cells after the transplant. In some cases, you can donate your own bone marrow stem cells in advance. The cells are saved and then used later on. Or you can get cells from a donor. The donor might be a family member or unrelated person. Bone marrow transplantation has serious risks. Some complications can be life-threatening. But for some people, it is the best hope for a cure or a longer life. NIH: National Heart, Lung, and Blood Institute
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. ("Hemi-" means "half," and "dysplasia" refers to abnormal growth.) The right side is affected about twice as often as the left side. People with CHILD syndrome have a skin condition characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis). This condition is most likely to occur in skin folds and creases and usually does not affect the face. The skin abnormalities are present at birth and persist throughout life. CHILD syndrome also disrupts the formation of the arms and legs during early development. Children with this disorder may be born with one or more limbs that are shortened or missing. The limb abnormalities occur on the same side of the body as the skin abnormalities. Additionally, CHILD syndrome may affect the development of the brain, heart, lungs, and kidneys.
One test that helps doctors judge the severity of a stroke is the standardized NIH Stroke Scale, developed by the National Institute of Neurological Disorders and Stroke at the National Institutes of Health, or NIH. Health care professionals use the NIH Stroke Scale to measure a patient's neurological deficits by asking the patient to answer questions and to perform several physical and mental tests. Other scales include the Glasgow Coma Scale, the Hunt and Hess Scale, the Modified Rankin Scale, and the Barthel Index.
What are the signs and symptoms of Acrokeratoelastoidosis of Costa? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrokeratoelastoidosis of Costa. 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) Hyperkeratosis 90% Verrucae 90% Abnormality of the nail 50% Hyperhidrosis 50% Acrokeratosis - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
You can learn more about knee replacement from the following resources. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse National Institutes of Health 1 AMS Circle Bethesda, MD 20892-3675 Phone: 301-495-4484 Toll Free: 877-22-NIAMS (226-4267) TTY: 301-565-2966 Fax: 301-718-6366 Email: NIAMSinfo@mail.nih.gov Website: http://www.niams.nih.gov American Physical Therapy Association Website: http://www.apta.org Arthritis Foundation Website: http://www.arthritis.org The Knee Society Website: http://www.kneesociety.org MedlinePlus Website: http://www.nlm.nih.gov/medlineplus/kneereplacement.html
Untreated, sleep apnea can be life threatening. Excessive daytime sleepiness can cause people to fall asleep at inappropriate times, such as while driving. Sleep apnea also appears to put individuals at risk for stroke and transient ischemic attacks (TIAs, also known as mini-strokes), and is associated with coronary heart disease, heart failure, irregular heartbeat, heart attack, and high blood pressure. Although there is no cure for sleep apnea, recent studies show that successful treatment can reduce the risk of heart and blood pressure problems.
How might squamous cell carcinoma be treated? Skin cancer generally has a high cure rate if it is treated early. Treatment depends on how big the tumor is, its location, and how far it has spread (metastasis). Methods of treatment for squamous cell carcinoma may include: Curettage and desiccation - scraping away the cancer and using electricity to kill any remaining cancer cells; this is used to treat cancers that are not very large or deep Surgical excision - cutting out of the tumor and stitching up the remaining tissue Radiation therapy (if the skin cancer is located in an area difficult to treat surgically) Microscopically controlled excision (Mohs surgery) - repeated cutting out of small pieces of tissue that are then examined microscopically to check if any cancer has been left behind; repeated application of this technique minimizes the removal of healthy tissue and is cosmetically more satisfying, especially if carried out with a plastic surgeon as part of the medical team. This is more likely to be used for skin cancers on the nose, ears, and other areas of the face. Cryosurgery - freezing and killing the cancer cells Skin creams and medications - may be used to treat superficial (not very deep) squamous cell carcinoma. The outlook for small squamous cell lesions that are removed early and completely is extremely favorable, with about 95% cured if they are removed promptly.
Schwartz-Jampel syndrome appears to be a rare condition. About 150 cases have been reported in the medical literature.
Marine toxins are naturally occurring chemicals that can contaminate certain seafood. The seafood contaminated with these chemicals frequently looks, smells, and tastes normal. When humans eat such seafood, disease can result.
The nonsteroidal anti-inflammatory drug (NSAID) indomethacin often provides complete relief from symptoms. Other less effective NSAIDs, calcium-channel blocking drugs (such as verapamil), and corticosteroids may be used to treat the disorder. Patients with both paroxysmal hemicrania and trigeminal neuralgia (a condition of the 5th cranial nerve that causes sudden, severe pain typically felt on one side of the jaw or cheek) should receive treatment for each disorder.
Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency) and a reduced ability to form blood clots. This condition primarily affects males. Individuals with Wiskott-Aldrich syndrome have microthrombocytopenia, which is a decrease in the number and size of blood cells involved in clotting (platelets). This platelet abnormality, which is typically present from birth, can lead to easy bruising or episodes of prolonged bleeding following minor trauma. Wiskott-Aldrich syndrome causes many types of white blood cells, which are part of the immune system, to be abnormal or nonfunctional, leading to an increased risk of several immune and inflammatory disorders. Many people with this condition develop eczema, an inflammatory skin disorder characterized by abnormal patches of red, irritated skin. Affected individuals also have an increased susceptibility to infection. People with Wiskott-Aldrich syndrome are at greater risk of developing autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. The chance of developing some types of cancer, such as cancer of the immune system cells (lymphoma), is also greater in people with Wiskott-Aldrich syndrome.
Summary : Food provides the energy and nutrients that young children need to be healthy. Toddlers are learning to feed themselves and to eat new foods. They should eat a variety of foods from all of the food groups. Each day, toddlers need enough nutrients, including - 7 milligrams of iron - 700 milligrams of calcium - 600 IU of vitamin D
Tubular aggregate myopathy is a disorder that primarily affects the skeletal muscles, which are muscles the body uses for movement. This disorder causes muscle pain, cramping, or weakness that begins in childhood and worsens over time. The muscles of the lower limbs are most often affected, although the upper limbs can also be involved. Affected individuals can have difficulty running, climbing stairs, or getting up from a squatting position. The weakness may also lead to an unusual walking style (gait). Some people with this condition develop joint deformities (contractures) in the arms and legs. Skeletal muscles are normally made up of two types of fibers, called type I and type II fibers, in approximately equal quantities. Type I fibers, also called slow twitch fibers, are used for long, sustained activity, such as walking long distances. Type II fibers, also known as fast twitch fibers, are used for short bursts of strength, which are needed for activities such as running up stairs or sprinting. In people with tubular aggregate myopathy, type II fibers waste away (atrophy), so affected individuals have mostly type I fibers. In addition, proteins build up abnormally in both type I and type II fibers, forming clumps of tube-like structures called tubular aggregates. Tubular aggregates can occur in other muscle disorders, but they are the primary muscle cell abnormality in tubular aggregate myopathy.
How might Norrie disease be treated? Because most males with Norrie disease (ND) have complete retinal detachment at the time of birth, surgical intervention after that time is typically not effective for preserving sight. Furthermore, we were unable to find reports about restoring sight to affected individuals after sight has been lost. Individuals without complete retinal detachment may benefit from intervention; however, vitrectomy and laser photocoagulation are reportedly challenging and often associated with poor outcome. A more recent case report reported evidence that immediate, prophylactic laser treatment at birth may prevent retinal detachment and blindness. The individual described in the study was known to be at risk and was diagnosed before birth via amniocentesis, and thus laser treatment shortly after birth was able to be performed. The authors of this report state that although the results they achieved are encouraging, longer observation of a larger number of patients is needed to determine the effectivness of this new approach. In some cases, surgery may be required when progression of the condition leads to increased pressure within the eye. Rarely, enucleation (removal) of the eye may be necessary to control pain. For individuals with hearing loss, hearing aid augmentation is usually successful until middle or late adulthood. Cochlear implants may be considered when function is severely impaired.
The prevalence of myoclonus-dystonia is unknown. This condition has been described in people worldwide.
These resources address the diagnosis or management of hereditary hyperekplexia: - Gene Review: Gene Review: Hyperekplexia - Genetic Testing Registry: Early infantile epileptic encephalopathy 8 - Genetic Testing Registry: Hyperekplexia hereditary 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
Prediabetes is when the amount of glucose in your blood is above normal yet not high enough to be called diabetes. With prediabetes, your chances of getting type 2 diabetes, heart disease, and stroke are higher. With some weight loss and moderate physical activity, you can delay or prevent type 2 diabetes. You can even return to normal glucose levels, possibly without taking any medicines.
Secondary VUR is treated by removing the blockage causing the reflux. Treatment may involve - surgery - antibiotics - intermittent catheterizationdraining the bladder by inserting a thin tube, called a catheter, through the urethra to the bladder
Kuskokwim syndrome is characterized by joint deformities called contractures that restrict the movement of affected joints. This condition has been found only in a population of native Alaskans known as Yup'ik Eskimos, who live in and around a region of southwest Alaska known as the Kuskokwim River Delta. In Kuskokwim syndrome, contractures most commonly affect the knees, ankles, and elbows, although other joints, particularly of the lower body, can be affected. The contractures are usually present at birth and worsen during childhood. They tend to stabilize after childhood, and they remain throughout life. Some individuals with this condition have other bone abnormalities, most commonly affecting the spine, pelvis, and feet. Affected individuals can develop an inward curve of the lower back (lordosis), a spine that curves to the side (scoliosis), wedge-shaped spinal bones, or an abnormality of the collarbones (clavicles) described as clubbing. Affected individuals are typically shorter than their peers and they may have an abnormally large head (macrocephaly).
These resources address the diagnosis or management of progressive external ophthalmoplegia: - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 - Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 - Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 - Genetic Testing Registry: Progressive external ophthalmoplegia - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
KFD has historically been limited to the western and central districts of Karnataka State, India. However, in November 2012, samples from humans and monkeys tested positive for KFDV in the southernmost district of the State which neighbors Tamil Nadu State and Kerala State, indicating the possibility of wider distribution of KFDV. Additionally, a virus very similar to KFD virus (Alkhurma hemorrhagic fever virus) has been described in Saudi Arabia. People with recreational or occupational exposure to rural or outdoor settings (e.g., hunters, herders, forest workers, farmers) within Karnataka State are potentially at risk for infection by contact with infected ticks. Seasonality is another important risk factor as more cases are reported during the dry season, from November through June.
Many people with chronic pain can be helped if they understand all the causes of pain and the many and varied steps that can be taken to undo what chronic pain has done. Scientists believe that advances in neuroscience will lead to more and better treatments for chronic pain in the years to come.
When studying ways to prevent breast cancer, scientists look at risk factors and protective factors. Anything that increases your chance of developing cancer is called a cancer risk factor. Anything that decreases your chance of developing cancer is called a cancer protective factor. Some risk factors for cancer can be avoided, but many cannot. For example, both smoking and inheriting certain genes are risk factors for some types of cancer, but only smoking can be avoided. Regular exercise and a healthy diet may be protective factors for some types of cancer. Avoiding risk factors and increasing protective factors may lower your risk but it does not mean that you will not get cancer. Different ways to prevent cancer are being studied, including - changing lifestyle or eating habits - avoiding things known to cause cancer - taking medicine to treat a precancerous condition or to keep cancer from starting. changing lifestyle or eating habits avoiding things known to cause cancer taking medicine to treat a precancerous condition or to keep cancer from starting.
Autosomal recessive PKD is a rare genetic disorder that affects the liver as well as the kidneys. The signs of autosomal recessive PKD frequently appear in the earliest months of life, even in the womb, so health care providers often call it infantile PKD. In an autosomal recessive disorder, the child has to inherit the gene mutation from both parents to have an increased likelihood for the disorder. The chance of a child inheriting autosomal recessive mutations from both parents with a gene mutation is 25 percent, or one in four. If only one parent carries the mutated gene, the child will not get the disorder, although the child may inherit the gene mutation. The child is a carrier of the disorder and can pass the gene mutation to the next generation. Genetic testing can show whether a parent or child is a carrier of the mutated gene. Autosomal recessive disorders do not typically appear in every generation of an affected family. The following chart shows the chance of inheriting an autosomal recessive mutation from parents who both carry the mutated gene: Read more about how people inherit genetic conditions at the NLMs Genetics Home Reference.
The prevalence of X-linked adrenoleukodystrophy is 1 in 20,000 to 50,000 individuals worldwide. This condition occurs with a similar frequency in all populations.
These resources address the diagnosis or management of TRAPS: - Genetic Testing Registry: TNF receptor-associated periodic fever syndrome (TRAPS) - University College London: National Amyloidosis Center (UK) 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
Almost anyone, including children and teens, can have hematuria. Factors that increase the chance a person will have hematuria include - a family history of kidney disease - an enlarged prostate, which typically occurs in men age 50 or older - urinary stone disease - certain medications including aspirin and other pain relievers, blood thinners, and antibiotics - strenuous exercise such as long-distance running - a recent bacterial or viral infection
These resources address the diagnosis or management of surfactant dysfunction: - Children's Interstitial and Diffuse Lung Disease (chILD) Foundation: Surfactant Deficiency - Genetic Testing Registry: Surfactant metabolism dysfunction, pulmonary, 1 - Genetic Testing Registry: Surfactant metabolism dysfunction, pulmonary, 2 - Genetic Testing Registry: Surfactant metabolism dysfunction, pulmonary, 4 - Genetic Testing Registry: Surfactant metabolism dysfunction, pulmonary, 5 - National Heart Lung and Blood Institute: How is Respiratory Distress Syndrome Diagnosed? - National Heart Lung and Blood Institute: How is Respiratory Distress Syndrome Treated? 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
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research related to AGS through grants to major medical institutions across the country. Current research is aimed at finding new methods for treating and ultimately preventing or curing AGS.
Nerve damage symptoms depend on which nerves have damage. Some people have no symptoms or mild symptoms. Other people have painful and long-lasting symptoms. As most nerve damage develops over many years, a person may not notice mild cases for a long time. In some people, the onset of pain may be sudden and severe.
How is Fuchs endothelial corneal dystrophy inherited? The inheritance of Fuchs dystrophy is not straight forward. In some cases, Fuchs dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene (which is the early-onset form of the disease), it is inherited in an autosomal dominant pattern. In addition, an autosomal dominant inheritance pattern is seen in some situations in which the condition is caused by changes in an unknown gene. However, in many cases, the inheritance pattern is unknown. Some cases result from new mutations in a gene and occur in people with no history of the disorder in their family. Due to the complex nature of the inheritance of this condition, we strongly recommend you discuss your concerns with a genetics professional.
Is genetic testing available for EEC syndrome? It is estimated that greater than 90% of cases of EEC syndrome are caused by mutations in the TP63 gene. The remainder are suspected to be caused by different mutations in a region on chromosome 7. Genetic testing is available to detect both mutations in the TP63 gene and in the implicated region on chromosome 7. Genetic Testing Registry lists the names of laboratories that are performing genetic testing for EEC syndrome. To view the contact information for the clinical laboratories conducting testing click here. Testing for individuals with a family history of EEC syndrome who may have a mutation but do not exhibit signs and symptoms of the condition may be available if the mutation in the affected family member(s) is known. Prenatal diagnosis for pregnancies at risk may also be available if the mutation in the family is known. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Essential thrombocythemia affects an estimated 1 to 24 per 1 million people worldwide.
These resources address the diagnosis or management of palmoplantar keratoderma with deafness: - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratodermas - Genetic Testing Registry: Keratoderma palmoplantar deafness 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
Factor XIII deficiency is a rare bleeding disorder. Researchers have identified an inherited form and a less severe form that is acquired during a person's lifetime. Signs and symptoms of inherited factor XIII deficiency begin soon after birth, usually with abnormal bleeding from the umbilical cord stump. If the condition is not treated, affected individuals may have episodes of excessive and prolonged bleeding that can be life-threatening. Abnormal bleeding can occur after surgery or minor trauma. The condition can also cause spontaneous bleeding into the joints or muscles, leading to pain and disability. Women with inherited factor XIII deficiency tend to have heavy or prolonged menstrual bleeding (menorrhagia) and may experience recurrent pregnancy losses (miscarriages). Other signs and symptoms of inherited factor XIII deficiency include nosebleeds, bleeding of the gums, easy bruising, problems with wound healing, and abnormal scar formation. Inherited factor XIII deficiency also increases the risk of spontaneous bleeding inside the skull (intracranial hemorrhage), which is the leading cause of death in people with this condition. Acquired factor XIII deficiency becomes apparent later in life. People with the acquired form are less likely to have severe or life-threatening episodes of abnormal bleeding than those with the inherited form.
A brain tumor is a growth of abnormal cells in the tissues of the brain. Brain tumors can be benign, with no cancer cells, or malignant, with cancer cells that grow quickly. Some are primary brain tumors, which start in the brain. Others are metastatic, and they start somewhere else in the body and move to the brain. Brain tumors can cause many symptoms. Some of the most common are - Headaches, often in the morning - Nausea and vomiting - Changes in your ability to talk, hear, or see - Problems with balance or walking - Problems with thinking or memory - Feeling weak or sleepy - Changes in your mood or behavior - Seizures Doctors diagnose brain tumors by doing a neurologic exam and tests including an MRI, CT scan, and biopsy. Treatment options include watchful waiting, surgery, radiation therapy, chemotherapy, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. Many people get a combination of treatments. NIH: National Cancer Institute
Certain factors affect prognosis (chance of recovery). The prognosis (chance of recovery) depends on the following: - Whether there are any cancer cells left after surgery. - The type of tumor. - Where the tumor is in the body. - The child's age. - Whether the tumor has just been diagnosed or has recurred (come back).
Summary : It can be scary when your baby is sick, especially when it is not an everyday problem like a cold or a fever. You may not know whether the problem is serious or how to treat it. If you have concerns about your baby's health, call your health care provider right away. Learning information about your baby's condition can help ease your worry. Do not be afraid to ask questions about your baby's care. By working together with your health care provider, you make sure that your baby gets the best care possible.
Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone that your adrenal gland makes. Sometimes, taking synthetic hormone medicine to treat an inflammatory disease leads to Cushing's. Some kinds of tumors produce a hormone that can cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are - Upper body obesity - Thin arms and legs - Severe fatigue and muscle weakness - High blood pressure - High blood sugar - Easy bruising Lab tests can show if you have it and find the cause. Your treatment will depend on why you have too much cortisol. If it is because you have been taking synthetic hormones, a lower dose may control your symptoms. If the cause is a tumor, surgery and other therapies may be needed. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
- Wilson disease is a genetic disease that prevents the body from removing extra copper. - Normally, the liver filters extra copper and releases it into bile. In Wilson disease, the liver does not filter copper correctly and copper builds up in the liver, brain, eyes, and other organs. - Wilson disease is caused by an inherited autosomal recessive mutation, or change, in the ATP7B gene. In an autosomal recessive disease, the child has to inherit the gene mutation from both parents to have an increased likelihood for the disease. - The signs and symptoms of Wilson disease vary, depending on what organs of the body are affected. People with Wilson disease may have - liver-related signs and symptoms - central nervous system-related signs and symptoms - mental health-related signs and symptoms - other signs and symptoms - A health care provider will treat Wilson disease with a lifelong effort to reduce and control the amount of copper in the body. Treatment may include - medications - changes in eating, diet, and nutrition - a liver transplant - People with Wilson disease should reduce their dietary copper intake by avoiding foods that are high in copper, such as - shellfish - liver - mushrooms - nuts - chocolate - A person cannot prevent Wilson disease; however, people with a family history of Wilson disease, especially those with an affected sibling or parent, should talk with a health care provider about testing.
The prevalence of Langer mesomelic dysplasia is unknown, although the condition appears to be rare. Several dozen affected individuals have been reported in the scientific literature.
Up to 15 percent of Japanese people with moyamoya disease have one or more family members with the condition, indicating that the condition can be passed through generations in families; however, the inheritance pattern is unknown. Research suggests that the condition follows an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, some people who have a copy of the altered gene never develop the condition, which is a situation known as reduced penetrance.
How is Fabry disease inherited? Fabry disease is inherited in an X-linked pattern, which means that the gene that causes the condition is located on the X chromosome. In males (who have only one X chromosome), one mutated copy of the gene is enough to cause symptoms of the condition. Because females have two copies of the X chromosome, one mutated copy of the gene in each cell usually leads to less severe symptoms in females than in males, or may cause no symptoms at all.
What causes Charcot-Marie-Tooth disease type 2F? Charcot-Marie-Tooth disease type 2F (CMT2F) is caused by mutations in the HSPB1 gene. This gene provides instructions for making a protein (heat shock protein beta-1) which helps protect cells under adverse conditions. Heat shock proteins appear to be involved in activities such as cell movement, stabilizing the cell's framework, folding and stabilizing new proteins, repairing damaged proteins, and muscle contraction. Heat shock protein beta-1 is particularly abundant in nerve and muscle cells. In nerve cells, it helps to organize a network of threads that maintain the diameter of axons (neurofilaments), which are needed to transmit nerve impulses efficiently. It is unclear exactly how HSPB1 mutations lead to the axon abnormalities characteristic of CMT2F. Researchers suggest that mutations lead to an altered protein which clusters together and interferes with nerve cell function. Another possibility is that the altered protein disrupts the assembly of neurofilaments, which in turn may impair the transmission of nerve impulses.
The epilepsies are a spectrum of brain disorders ranging from severe, life-threatening and disabling, to ones that are much more benign. In epilepsy, the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. The epilepsies have many possible causes and there are several types of seizures. Anything that disturbs the normal pattern of neuron activityfrom illness to brain damage to abnormal brain developmentcan lead to seizures. Epilepsy may develop because of an abnormality in brain wiring, an imbalance of nerve signaling chemicals called neurotransmitters, changes in important features of brain cells called channels, or some combination of these and other factors. Having a single seizure as the result of a high fever (called febrile seizure) or head injury does not necessarily mean that a person has epilepsy. Only when a person has had two or more seizures is he or she considered to have epilepsy. A measurement of electrical activity in the brain and brain scans such as magnetic resonance imaging or computed tomography are common diagnostic tests for epilepsy.
Your toenails and fingernails protect the tissues of your toes and fingers. They are made up of layers of a hardened protein called keratin, which is also in your hair and skin. The health of your nails can be a clue to your overall health. Healthy nails are usually smooth and consistent in color. Specific types of nail discoloration and changes in growth rate can be signs of lung, heart, kidney, and liver diseases, as well as diabetes and anemia. White spots and vertical ridges are harmless. Nail problems that sometimes require treatment include - Bacterial and fungal infections - Ingrown nails - Tumors - Warts Keeping your nails clean, dry, and trimmed can help you avoid some problems. Do not remove the cuticle, which can cause infection.
Cystinuria affects approximately 1 in 10,000 people.
Kennedy's disease is slowly progressive. Individuals tend to remain ambulatory until late in the disease, although some may be wheelchair-bound during later stages. The life span of individuals with Kennedy's disease is usually normal.
Listeriosis is a foodborne illness caused by Listeria monocytogenes, bacteria found in soil and water. It can be in a variety of raw foods as well as in processed foods and foods made from unpasteurized milk. Listeria is unlike many other germs because it can grow even in the cold temperature of the refrigerator. Symptoms include fever and chills, headache, upset stomach and vomiting. Treatment is with antibiotics. Anyone can get the illness. But it is most likely to affect pregnant women and unborn babies, older adults, and people with weak immune systems. To reduce your risk - Use precooked and ready-to-eat foods as soon as you can - Avoid raw milk and raw milk products - Heat ready-to-eat foods and leftovers until they are steaming hot - Wash fresh fruits and vegetables - Avoid rare meat and refrigerated smoked seafood Centers for Disease Control and Prevention
The NINDS supports research on neuromuscular disorders, such as hereditary neuropathies, aimed at learning more about these disorders and finding ways to prevent and treat them.
How is glutaric acidemia type I inherited? Glutaric acidemia type I is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. The parents of a person with an autosomal recessive condition typically each carry one mutated copy of the gene and are referred to as carriers. Carriers of an autosomal recessive condition typically are unaffected and have no signs or symptoms. When two carrier parents have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier.
The diagnostic category of pervasive developmental disorders (PDD) refers to a group of disorders characterized by delays in the development of socialization and communication skills. Parents may note symptoms as early as infancy, although the typical age of onset is before 3 years of age. Symptoms may include problems with using and understanding language; difficulty relating to people, objects, and events; unusual play with toys and other objects; difficulty with changes in routine or familiar surroundings, and repetitive body movements or behavior patterns. Autism (a developmental brain disorder characterized by impaired social interaction and communication skills, and a limited range of activities and interests) is the most characteristic and best studied PDD. Other types of PDD include Asperger's Syndrome, Childhood Disintegrative Disorder, and Rett's Syndrome. Children with PDD vary widely in abilities, intelligence, and behaviors. Some children do not speak at all, others speak in limited phrases or conversations, and some have relatively normal language development. Repetitive play skills and limited social skills are generally evident. Unusual responses to sensory information, such as loud noises and lights, are also common.
The prevalence of Refsum disease is unknown, although the condition is thought to be uncommon.
Summary : It seems to happen almost every day - you hear about the results of a new medical research study. Sometimes the results of one study seem to disagree with the results of another study. It's important to be critical when reading or listening to reports of new medical findings. Some questions that can help you evaluate health information include: - Was the study in animals or people? - Does the study include people like you? - How big was the study? - Was it a randomized controlled clinical trial? - Where was the research done? - If a new treatment was being tested, were there side effects? - Who paid for the research? - Who is reporting the results? NIH: National Institutes of Health
Signs and symptoms of transitional cell cancer of the renal pelvis and ureter include blood in the urine and back pain. These and other signs and symptoms may be caused by transitional cell cancer of the renal pelvis and ureter or by other conditions. There may be no signs or symptoms in the early stages. Signs and symptoms may appear as the tumor grows. Check with your doctor if you have any of the following: - Blood in the urine. - A pain in the back that doesn't go away. - Extreme tiredness. - Weight loss with no known reason. - Painful or frequent urination.
What are the signs and symptoms of Corneal dystrophy Thiel Behnke type? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy Thiel Behnke 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) Autosomal dominant inheritance - Corneal dystrophy - Corneal scarring - Juvenile epithelial corneal dystrophy - Photophobia - 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.
What are the symptoms of interstitial nephritis? Symptoms of interstitial nephritis may include blood in the urine, fever, increased or decreased urine output, mental status changes (drowsiness, confusion, coma), nausea, vomiting, rash, swelling of the body, and weight gain (from retaining fluid).
Frostbite is an injury to the body that is caused by freezing. It most often affects the nose, ears, cheeks, chin, fingers, or toes. Frostbite can permanently damage the body, and severe cases can lead to amputation. Signs of frostbite include - A white or grayish-yellow skin area - Skin that feels unusually firm or waxy - Numbness If you have symptoms of frostbite, seek medical care. But if immediate medical care isn't available, here are steps to take: - Get into a warm room as soon as possible. - Unless absolutely necessary, do not walk on frostbitten feet or toes. Walking increases the damage. - Put the affected area in warm - not hot - water. - You can also warm the affected area using body heat. For example, use your armpit to warm frostbitten fingers. - Don't rub the frostbitten area with snow or massage it at all. This can cause more damage. - Don't use a heating pad, heat lamp, or the heat of a stove, fireplace, or radiator for warming. Since frostbite makes an area numb, you could burn it. Centers for Disease Control and Prevention
Early onset of the disease may foretell a worse prognosis than later onset. If the disorder is detected early and treated appropriately, an individual with WD can usually enjoy normal health and a normal lifespan. If not treated, however, WD can cause brain damage, liver failure, and death. The disease requires lifelong treatment.
Neuroacanthocytosis refers to a group of genetic conditions that are characterized by movement disorders and acanthocytosis (abnormal, spiculated red blood cells). Four syndromes are classified as neuroacanthocytosis: Chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 (HDL2), and panthothenate kinase-associated neurodegeneration (PKAN). Acanthocytosis may not always be observed in HDL2 and PKAN. These disorders are caused by different genetic mutations, and the signs and symptoms vary, but usually include chorea (involuntary, dance-like movements), parkinsonism (slowness of movement), dystonia (abnormal body postures), and problems walking. There may also be muscle weakness, involuntary movements of the face and tongue, tongue/lip biting (which is mostly characteristic of Chorea-acanthocytosis), as well as difficulty with speech and eating, cognitive impairment, psychiatric symptoms, and seizures. Individuals with McLeod syndrome often have cardiac problems. Many features of these disorders are due to degeneration of the basal ganglia, a part of the brain that controls movement. Additional disorders that are also known have neurologic symptoms, acanthocytosis, and either lipoprotein disorders or systemic findings. The diagnosis of neuroacanthocytosis is typically based on the symptoms and clinical observation, a review of family history, and the evaluation of specific laboratory and imaging studies.
Osteomesopyknosis is a bone disorder characterized by abnormal hardening of bone (osteosclerosis). It is generally limited to the axial spine, pelvis, and proximal part of the long bones, which is what distinguishes this condition from other sclerosing bone disorders. It is usually diagnosed incidentally in young adults complaining of back pain. Osteomesopyknosis is inherited in an autosomal dominant manner but the genetic cause has not yet been identified. It is generally benign and life expectancy is normal.
This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the GLA gene in each cell is sufficient to cause the condition. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males, or rarely may cause no symptoms at all. Unlike other X-linked disorders, Fabry disease causes significant medical problems in many females who have one altered copy of the GLA gene. These women may experience many of the classic features of the disorder, including nervous system abnormalities, kidney problems, chronic pain, and fatigue. They also have an increased risk of developing high blood pressure, heart disease, stroke, and kidney failure. The signs and symptoms of Fabry disease usually begin later in life and are milder in females than in their affected male relatives. A small percentage of females who carry a mutation in one copy of the GLA gene never develop signs and symptoms of Fabry disease.
Summary : Antibiotics are powerful medicines that fight bacterial infections. Used properly, antibiotics can save lives. They either kill bacteria or keep them from reproducing. Your body's natural defenses can usually take it from there. Antibiotics do not fight infections caused by viruses, such as - Colds - Flu - Most coughs and bronchitis - Sore throats, unless caused by strep If a virus is making you sick, taking antibiotics may do more harm than good. Using antibiotics when you don't need them, or not using them properly, can add to antibiotic resistance. This happens when bacteria change and become able to resist the effects of an antibiotic. When you take antibiotics, follow the directions carefully. It is important to finish your medicine even if you feel better. If you stop treatment too soon, some bacteria may survive and re-infect you. Do not save antibiotics for later or use someone else's prescription. Centers for Disease Control and Prevention
Fetal cystic hygroma is a congenital malformation of the lymphatic system. The lymphatic system is a network of vessels that maintains fluids in the blood, as well as transports fats and immune system cells. Cystic hygromas are single or multiple cysts found mostly in the neck region. In the fetus, a cystic hygroma can progress to hydrops (an excess amount of fluid in the body) and eventually lead to fetal death. Some cases resolve leading to webbed neck, edema (swelling), and a lymphangioma (a benign yellowish-tan tumor on the skin composed of swollen lymph vessels). In other instances, the hygroma can progress in size to become larger than the fetus. Cystic hygromas can be classified as septated (multiloculated) or nonseptated (simple). Cystic hygromas can occur as an isolated finding or in association with other birth defects as part of a syndrome (chromosomal abnormalities or syndromes caused by gene mutations). They may result from environmental factors (maternal virus infection or alcohol abuse during pregnancy), genetic factors, or unknown factors. The majority of prenatally diagnosed cystic hygromas are associated with Turner syndrome or other chromosomal abnormalities like trisomy 21. Isolated cystic hygroma can be inherited as an autosomal recessive disorder. Fetal cystic hygroma have being treated with OK-432, a lyophilized mixture of Group A Streptococcus pyogenes and benzyl penicillin, and with serial thoracocentesis plus paracentesis.
2-methyl-3-hydroxybutyric aciduria is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss. Affected males have severe neurodegeneration with loss of developmental milestones, whereas females have mild to moderate developmental delay. 2-methyl-3-hydroxybutyric aciduria is caused by mutations in the HSD17B10 gene; it has an X-linked dominant pattern of inheritance.
Diagnosis can be made in the early stage of illness by molecular detection by PCR or virus isolation from blood. Later, serologic testing using enzyme-linked immunosorbent serologic assay (ELISA) can be performed.
The outcome for people with FTD is poor. The disease progresses steadily and often rapidly, ranging from less than 2 years in some individuals to more than 10 years in others. Eventually some individuals with FTD will need 24-hour care and monitoring at home or in an institutionalized care setting.
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.
Cyclospora cayetanensis is a parasite composed of one cell, too small to be seen without a microscope. This parasite causes an intestinal infection called cyclosporiasis.
How is Currarino triad inherited? Currarino triad is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the MNX1 gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. A significant interfamilial (between different families) and intrafamilial (within the same family) variability in expression has been found without any definite correlation to the genetic mutations. This means in one family, a parent might only have one very mild feature of Currarino triad while one of their children might have severe forms of all three features and yet another child might have a mild form of one feature and a severe form of another.
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. An affected person usually inherits the altered gene from one affected parent. However, some people with SCA2 do not have a parent with the disorder. Individuals who have an increase in the number of CAG repeats in the ATXN2 gene, but do not develop SCA2, are at risk of having children who will develop the disorder. As the altered ATXN2 gene is passed down from one generation to the next, the length of the CAG trinucleotide repeat often increases. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. Anticipation tends to be more prominent when the ATXN2 gene is inherited from a person's father (paternal inheritance) than when it is inherited from a person's mother (maternal inheritance).
Very common. Each year, more than 1 million people in the U.S. have a heart attack and about half of them die. About one-half of those who die do so within 1 hour of the start of symptoms and before reaching the hospital.
Achromatopsia results from changes in one of several genes: CNGA3, CNGB3, GNAT2, PDE6C, or PDE6H. A particular CNGB3 gene mutation underlies the condition in Pingelapese islanders. Achromatopsia is a disorder of the retina, which is the light-sensitive tissue at the back of the eye. The retina contains two types of light receptor cells, called rods and cones. These cells transmit visual signals from the eye to the brain through a process called phototransduction. Rods provide vision in low light (night vision). Cones provide vision in bright light (daylight vision), including color vision. Mutations in any of the genes listed above prevent cones from reacting appropriately to light, which interferes with phototransduction. In people with complete achromatopsia, cones are nonfunctional, and vision depends entirely on the activity of rods. The loss of cone function leads to a total lack of color vision and causes the other vision problems. People with incomplete achromatopsia retain some cone function. These individuals have limited color vision, and their other vision problems tend to be less severe. Some people with achromatopsia do not have identified mutations in any of the known genes. In these individuals, the cause of the disorder is unknown. Other genetic factors that have not been identified likely contribute to this condition.
Biotin-thiamine-responsive basal ganglia disease is a rare disorder; its prevalence is unknown. Approximately 48 cases have been reported in the medical literature; most of these are individuals from Arab populations.
How might chromosome 4q deletion be treated? Because chromosome 4q deletion affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. For example, babies with congenital heart defects and certain skeletal abnormalities may require surgery. Children with bone or muscle problems and/or delayed motor milestones (i.e. walking) may be referred for physical or occupational therapy. Certain medications may be prescribed to treat seizures. Special education services are often necessary for children with intellectual disability. Please speak to your healthcare provider if you have any questions about your personal medical management plan.
What causes aquagenic pruritus? The exact cause of aquagenic pruritus is unknown, but increased mast cell degranulation (release of granules rich in histamine and other compounds into the body by mast cells, a special type of cell that plays a role in the immune system), increased circulating histamine, release of acetylcholine (a chemical in the body which sends signals from nerves to muscles and between nerves in the brain), and increased skin fibrinolytic activity (activity that controls clot size by promoting the breakdown of clots) have all been named as possible causes of the condition. In some cases, it appears to be a symptom of polycythemia vera.
After any operation, you'll have some side effects. There is usually some pain with surgery. There may also be swelling and soreness around the area that the surgeon cut. Your surgeon can tell you which side effects to expect. There can also be complications. These are unplanned events linked to the operation. Some complications are infection, too much bleeding, reaction to anesthesia, or accidental injury. Some people have a greater risk of complications because of other medical conditions. Your surgeon can tell you how you might feel and what you will be able to do - or not do - the first few days, weeks, or months after surgery. Some other questions to ask are - How long you will be in the hospital - What kind of supplies, equipment, and help you might need when you go home - When you can go back to work - When it is ok to start exercising again - Are they any other restrictions in your activities Following your surgeon's advice can help you recover as soon as possible. Agency for Healthcare Quality and Research
These resources address the diagnosis or management of phosphoglycerate mutase deficiency: - Genetic Testing Registry: Glycogen storage disease type X 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
Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.
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.