Split (1)

train · 11.8k rows

data stringlengths 25 1.5k
Individuals may obtain complete to near-complete relief of symptoms with proper medical attention and daily medication. Some people may not be able to tolerate long-term use of indomethacin and may have to rely on less effective NSAIDs.
There is no cure for OPCA. The disorder is slowly progressive with death usually occurring approximately 20 years after onset.
The prevalence of galactosialidosis is unknown; more than 100 cases have been reported. Approximately 60 percent of people with galactosialidosis have the juvenile/adult form. Most people with this type of the condition are of Japanese descent.
Many events or conditions can damage nerves and nerve pathways. Some of the most common causes are - vaginal childbirth - infections of the brain or spinal cord - diabetes - stroke - accidents that injure the brain or spinal cord - multiple sclerosis - heavy metal poisoning In addition, some children are born with nerve problems that can keep the bladder from releasing urine, leading to urinary infections or kidney damage.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The patient's signs and symptoms. - The stage of the cancer. - The type of Hodgkin lymphoma. - Blood test results. - The patient's age, gender, and general health. - Whether the cancer is recurrent or progressive. For Hodgkin lymphoma during pregnancy, treatment options also depend on: - The wishes of the patient. - The age of the fetus. Adult Hodgkin lymphoma can usually be cured if found and treated early.
How might intrahepatic cholestasis of pregnancy be treated? Treatment for intrahepatic cholestasis of pregnancy aims to relieve itching and prevent complications. Medications utilized to relieve itching might include ursodiol (Actigall, Urso), which helps decrease the level of bile in the mother's bloodstream, relieves itchiness and may reduce complications for the baby. To prevent pregnancy complications, close monitoring of the baby might be recommended. Even if prenatal tests appear normal, induction of early labor might be recommended.
We all want high-quality health care, but it's hard to know how to choose. There are many things to consider, including - What your insurance covers - Whether a health care provider or service is accredited - The location of a service - Hours that the service is available - Whether you like a health care provider's personality On this page you'll find information to help you choose a health care provider or service.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The type of germ cell tumor. - Where the tumor first began to grow. - The stage of the cancer (whether it has spread to nearby areas or to other places in the body). - How well the tumor responds to treatment (lower AFP and -hCG levels). - Whether the tumor can be completely removed by surgery. - The patient's age and general health. - Whether the cancer has just been diagnosed or has recurred (come back). The prognosis for childhood extracranial germ cell tumors, especially ovarian germ cell tumors, is good.
Klinefelter syndrome and its variants are not inherited; these chromosomal changes usually occur as random events during the formation of reproductive cells (eggs and sperm) in a parent. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have one or more extra X chromosomes in each of the body's cells. Mosaic 46,XY/47,XXY is also not inherited. It occurs as a random event during cell division early in fetal development. As a result, some of the body's cells have one X chromosome and one Y chromosome (46,XY), and other cells have an extra copy of the X chromosome (47,XXY).
Thyroid disease is a disorder that affects the thyroid gland. Sometimes the body produces too much or too little thyroid hormone. Thyroid hormones regulate metabolismthe way the body uses energyand affect nearly every organ in the body. Too much thyroid hormone is called hyperthyroidism and can cause many of the bodys functions to speed up. Too little thyroid hormone is called hypothyroidism and can cause many of the bodys functions to slow down. Thyroid hormone plays a critical role during pregnancy both in the development of a healthy baby and in maintaining the health of the mother. Women with thyroid problems can have a healthy pregnancy and protect their fetuses health by learning about pregnancys effect on the thyroid, keeping current on their thyroid function testing, and taking the required medications.
The temporomandibular joint (TMJ) connects your jaw to the side of your head. When it works well, it enables you to talk, chew, and yawn. For people with TMJ dysfunction, problems with the joint and muscles around it may cause - Pain that travels through the face, jaw, or neck - Stiff jaw muscles - Limited movement or locking of the jaw - Painful clicking or popping in the jaw - A change in the way the upper and lower teeth fit together Jaw pain may go away with little or no treatment. Treatment may include simple things you can do yourself, such as eating soft foods or applying ice packs. It may also include pain medicines or devices to insert in your mouth. In rare cases, you might need surgery. NIH: National Institute of Dental and Craniofacial Research
X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus, and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There are two major types of XLCSNB: the complete form and the incomplete form. Both types have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.
Amniotic band syndrome refers to a condition in which bands extend from (and originating from) the inner lining of the amnion. The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb, its extremities may become entangled in the amniotic band resulting in constriction or even amputation. When this happens the baby is said to have amniotic band syndrome. Amniotic bands are thought to happen sporadically or in association with trauma to the abdomen. It can be a complication after an amniocentesis and/or it can indicate early rupture of the amniotic sac.
Narcolepsy affects about 1 in 2,000 people in the United States and Western Europe. However, the disorder is likely underdiagnosed, particularly in people with mild symptoms. Worldwide, narcolepsy appears to be most common in Japan, where it affects an estimated 1 in 600 people.
Brody myopathy is a condition that affects the skeletal muscles, which are the muscles used for movement. Affected individuals experience muscle cramping and stiffening after exercise or other strenuous activity, especially in cold temperatures. These symptoms typically begin in childhood. They are usually painless, but in some cases can cause mild discomfort. The muscles usually relax after a few minutes of rest. Most commonly affected are the muscles of the arms, legs, and face (particularly the eyelids). In some people with Brody myopathy, exercise leads to the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown.
These resources address the diagnosis or management of dyserythropoietic anemia and thrombocytopenia: - Gene Review: Gene Review: GATA1-Related X-Linked Cytopenia - Genetic Testing Registry: GATA-1-related thrombocytopenia with dyserythropoiesis 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
This condition affects an estimated 1 in 50,000 people.
Congenital laryngeal palsy is also known as congenital vocal cord paralysis. It represents 15%-20% of all cases of congenital anomalies of the larynx. It may be bilateral or unilateral. The cause of bilateral paralysis of the vocal cords is often unknown (idiopathic). In some cases, paralysis may be secondary to the immaturity of the nerve or muscle (neuromuscular) or due to central nervous system damage (including the Arnold-Chiari malformation, cerebral palsy, hydrocephalus, myelomeningocele, spina bifida, hypoxia (lack of oxygen in the blood), or bleeding). Birth trauma that causes excessive tension in the neck can cause transient bilateral vocal cord paralysis that can last 6-9 months. Unilateral paralysis is usually idiopathic but can be secondary to problems with the vagus nerve or recurrent laryngeal nerve. Bilateral vocal fold paralysis signals and symptoms may include making a noise when breathing (inspiratory stridor) that worsens upon exercise, progressive obstruction of the respiratory airway, aspiration, recurrent chest infections, cyanosis, nose flaring and signs of cranial nerve deficits during the head and neck exam. Flexible endoscopy usually elucidates the diagnosis by demonstrating vocal fold paralysis and no other abnormality. Treatment may include medication, operations and speech therapy.
There are currently no blood or laboratory tests to diagnose sporadic Parkinson's disease. Diagnosis is based on a person's medical history and a neurological examination, but the disease can be difficult to diagnose accurately. Doctors may sometimes request brain scans or laboratory tests in order to rule out other diseases. However, computed tomography (CT) and magnetic resonance imaging (MRI) brain scans of people with Parkinson's usually appear normal. Recently, the FDA (Food and Drug Administration) has approved an imaging technique called DaTscan, which may help to increase accuracy of the diagnosis of Parkinsons disease. Since many other diseases have similar features but require different treatments, it is very important to make an exact diagnosis as soon as possible to ensure proper treatment.
Mutations in the IGHMBP2 gene cause SMARD1. The IGHMBP2 gene provides instructions for making a protein involved in copying (replicating) DNA; producing RNA, a chemical cousin of DNA; and producing proteins. IGHMBP2 gene mutations that cause SMARD1 lead to the production of a protein with reduced ability to aid in DNA replication and the production of RNA and proteins. These problems particularly affect alpha-motor neurons, which are specialized cells in the brainstem and spinal cord that control muscle movements. Although the mechanism is unknown, altered IGHMBP2 proteins contribute to the damage of these neurons and their death over time. The cumulative death of alpha-motor neurons leads to breathing problems and progressive muscle weakness in children with SMARD1. Research suggests that the amount of functional protein that is produced from the mutated IGHMBP2 gene may play a role in the severity of SMARD1. Individuals who have some functional protein are more likely to develop signs and symptoms later in childhood and retain a greater level of muscle function.
POTS may follow a relapsing-remitting course, in which symptoms come and go, for years. In most cases (approximately 80 percent), an individual with POTS improves to some degree and becomes functional, although some residual symptoms are common.
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.
Most people with myotonia congenita dont require special treatments. Stiff muscles usually resolve with exercise, or light movement, especially after resting. For individuals whose symptoms are more limiting, doctors have had some success with medications such as quinine, or anticonvulsant drugs such as phenytoin. Physical therapy and other rehabilitative therapies are also sometimes used to improve muscle function.
Mutations in the LIPA gene cause Wolman disease. The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it processes lipids such as cholesteryl esters and triglycerides so they can be used by the body. Mutations in this gene lead to a shortage of lysosomal acid lipase and the accumulation of triglycerides, cholesteryl esters, and other kinds of fats within the cells and tissues of affected individuals. This accumulation as well as malnutrition caused by the body's inability to use lipids properly result in the signs and symptoms of Wolman disease.
Corticobasal degeneration is a progressive neurological disorder characterized by nerve cell loss and atrophy (shrinkage) of multiple areas of the brain including the cerebral cortex and the basal ganglia. Corticobasal degeneration progresses gradually. Initial symptoms, which typically begin at or around age 60, may first appear on one side of the body (unilateral), but eventually affect both sides as the disease progresses. Symptoms are similar to those found in Parkinson disease, such as poor coordination, akinesia (an absence of movements), rigidity (a resistance to imposed movement), disequilibrium (impaired balance); and limb dystonia (abnormal muscle postures). Other symptoms such as cognitive and visual-spatial impairments, apraxia (loss of the ability to make familiar, purposeful movements), hesitant and halting speech, myoclonus (muscular jerks), and dysphagia (difficulty swallowing) may also occur. An individual with corticobasal degeneration eventually becomes unable to walk.
What are the signs and symptoms of celiac artery compression syndrome? Classically, individuals with celiac artery compression syndrome present with a triad of abdominal pain after eating, weight loss (usually >20 pounds), and abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). One review found that abdominal pain is the most common symptom, found to be present in approximately 80% of individuals, while weight loss was found in approximately 48% and abdominal bruit was appreciated in approximately 35%. Other symptoms include: nausea, diarrhea, vomiting, and delayed gastric emptying.
How might Fanconi Bickel syndrome be treated? Management of Fanconi Bickel syndrome (FBS) generally focuses on the signs and symptoms of the condition. Treatment includes replacement of water and electrolytes, and vitamin D and phosphate supplements for prevention of hypophosphatemic rickets. Although there is limited data on the effectiveness of dietary treatment for this condition, it is recommended that affected individuals follow a galactose-restricted diabetic diet, with fructose as the main source of carbohydrate. Diet and supplements may alleviate some of the signs and symptoms of the condition but generally do not improve growth, resulting in short stature in adulthood.
Pachydermoperiostosis is a rare disorder characterized by clubbing of the fingers and toes; thickening of the skin of the face (pachyderma); excessive sweating (hyperhidrosis); and new bone formation associated with joint pain. Other features may include congenital heart disease and delayed closure of fontanelles. This condition typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years. Both autosomal dominant and autosomal recessive inheritance has been reported. Mutations in the HPGD gene have been found in those with the autosomal recessive form of this condition.
Progressive myoclonus epilepsy is a rare condition. Unverricht-Lundborg disease is believed to be the most common cause of this type of epilepsy, but its worldwide prevalence is unknown. Unverricht-Lundborg disease occurs most frequently in Finland, where approximately 4 in 100,000 people are affected.
How is hemoglobin E disease diagnosed? Many babies are picked up through state newborn screening programs. A diagnosis is usually made by looking at the red blood cells by doing a Mean Corpuscular Volume (MCV) test, which is commonly part of a Complete Blood Count (CBC) test. More specialized tests, such as a hemoglobin electrophoresis and iron studies might be done. These tests indicate whether a person has different types of hemoglobin. Genetic testing of the HBB gene can also be done to confirm a diagnosis.
A child who has a febrile seizure usually doesn't need to be hospitalized. If the seizure is prolonged or is accompanied by a serious infection, or if the source of the infection cannot be determined, a doctor may recommend that the child be hospitalized for observation. Prolonged daily use of anti-seizure medicines is usually not recommended because of their potential for harmful side effects. Children especially prone to febrile seizures may be treated with medication when they have a fever to lower the risk of having another febrile seizure.
Cerebral palsy doesnt always cause profound disabilities and for most people with CP the disorder does not affect life expectancy. Many children with CP have average to above average intelligence and attend the same schools as other children their age. Supportive treatments, medications, and surgery can help many individuals improve their motor skills and ability to communicate with the world..While one child with CP might not require special assistance, a child with severe CP might be unable to walk and need extensive, lifelong care.
BRCA2 hereditary breast and ovarian cancer syndrome (BRCA2 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70. Men have a 6% lifetime risk of breast cancer and an increased risk for prostate cancer. Both men and women with BRCA2 HBOC have an elevated risk for pancreatic cancer. BRCA2 HBOC may also be associated with cancers of the stomach, gallbladder, bile duct, esophagus, stomach, fallopian tube, primary peritoneum, and skin; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA2 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemopreventation and/or prophylactic surgeries.
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.
Mutations in the CBS, MTHFR, MTR, MTRR, and MMADHC genes cause homocystinuria. Mutations in the CBS gene cause the most common form of homocystinuria. The CBS gene provides instructions for producing an enzyme called cystathionine beta-synthase. This enzyme acts in a chemical pathway and is responsible for converting the amino acid homocysteine to a molecule called cystathionine. As a result of this pathway, other amino acids, including methionine, are produced. Mutations in the CBS gene disrupt the function of cystathionine beta-synthase, preventing homocysteine from being used properly. As a result, this amino acid and toxic byproducts substances build up in the blood. Some of the excess homocysteine is excreted in urine. Rarely, homocystinuria can be caused by mutations in several other genes. The enzymes made by the MTHFR, MTR, MTRR, and MMADHC genes play roles in converting homocysteine to methionine. Mutations in any of these genes prevent the enzymes from functioning properly, which leads to a buildup of homocysteine in the body. Researchers have not determined how excess homocysteine and related compounds lead to the signs and symptoms of homocystinuria.
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.
Is genetic testing available for TARP syndrome? Yes, genetic testing (including carrier testing) is available for TARP syndrome. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. On the GTR Web site, click on the title "Test for TARP syndrome" to find out more information about each test. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
The inheritance pattern of rheumatoid arthritis is unclear because many genetic and environmental factors appear to be involved. However, having a close relative with rheumatoid arthritis likely increases a person's risk of developing the condition.
How is X-linked adrenal hypoplasia congenita inherited? X-linked adrenal hypoplasia congenita is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. 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. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. In rare cases, however, females who carry a NR0B1 mutation may experience adrenal insufficiency or signs of hypogonadotropic hypogonadism such as underdeveloped reproductive tissues, delayed puberty, and an absence of menstruation.
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 disease (whether it affects part of the ovary, involves the whole ovary, or has spread to other places in the body). - What type of cells make up the tumor. - The size of the tumor. - The patients general health. Patients with ovarian low malignant potential tumors have a good prognosis, especially when the tumor is found early.
An aneurysm is a bulge or "ballooning" in the wall of an artery. Arteries are blood vessels that carry oxygen-rich blood from the heart to other parts of the body. If an aneurysm grows large, it can burst and cause dangerous bleeding or even death. Most aneurysms occur in the aorta, the main artery that runs from the heart through the chest and abdomen. Aneurysms also can happen in arteries in the brain, heart and other parts of the body. If an aneurysm in the brain bursts, it causes a stroke. Aneurysms can develop and become large before causing any symptoms. Often doctors can stop aneurysms from bursting if they find and treat them early. They use imaging tests to find aneurysms. Often aneurysms are found by chance during tests done for other reasons. Medicines and surgery are the two main treatments for aneurysms. NIH: National Heart, Lung, and Blood Institute
17-hydroxylase/17,20-lyase deficiency accounts for about 1 percent of congenital adrenal hyperplasia cases. It is estimated to occur in 1 in 1 million people worldwide.
Generally, the prognosis of herpes zoster oticus is good. However, in some cases, hearing loss may be permanent. Vertigo may last for days or weeks. Facial paralysis may be temporary or permanent.
Plasmablastic lymphoma is an aggressive form of non-Hodgkin lymphoma. Although the condition most commonly occurs in the oral cavity, it can be diagnosed in many other parts of the body such as the gastrointestinal tract, lymph nodes, and skin. The exact underlying cause of plasmablastic lymphoma is poorly understood; however, it is often associated with suppression of the immune system (i.e. HIV infection, immunosuppressive therapy). There is currently no standard therapy for plasmablastic lymphoma. Treatment usually consists of chemotherapy with or without radiation therapy and hematopoietic stem cell transplantation.
In some cases, including those in which Gillespie syndrome is caused by PAX6 gene mutations, the condition occurs in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected individuals inherit the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Gillespie syndrome can also be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The gene or genes involved in these cases are unknown. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Bedbugs bite you and feed on your blood. You may have no reaction to the bites, or you may have small marks or itching. Severe allergic reactions are rare. Bedbugs don't transmit or spread diseases. Adult bedbugs are brown, 1/4 to 3/8 inch long, and have a flat, oval-shaped body. Young bedbugs (called nymphs) are smaller and lighter in color. Bedbugs hide in a variety of places around the bed. They might also hide in the seams of chairs and couches, between cushions, and in the folds of curtains. They come out to feed about every five to ten days. But they can survive over a year without feeding. To prevent bedbugs in your home: - Check secondhand furniture for any signs of bedbugs before bringing it home. - Use a protective cover that encases mattresses and box springs. Check it regularly for holes. - Reduce clutter in your home so they have fewer places to hide. - Unpack directly into your washing machine after a trip and check your luggage carefully. When staying in hotels, put your suitcases on luggage racks instead of the floor. Check the mattress and headboard for signs of bedbugs. To get rid of bedbugs: - Wash and dry bedding and clothing at high temperatures. - Use mattress, box spring, and pillow encasements to trap bedbugs and help detect infestations. - Use pesticides if needed. Environmental Protection Agency
Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms chiefly affecting the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination (ataxia). Many affected individuals also have vision loss caused by changes in the light-sensitive tissue that lines the back of the eye (the retina). In some cases, the vision loss results from a condition called retinitis pigmentosa. This eye disease causes the light-sensing cells of the retina gradually to deteriorate. Learning disabilities and developmental delays are often seen in children with NARP, and older individuals with this condition may experience a loss of intellectual function (dementia). Other features of NARP include seizures, hearing loss, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). These signs and symptoms vary among affected individuals.
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is a genetic condition that causes blood vessels to become fragile. Signs and symptoms include muscle cramps, Raynaud phenomenon, kidney cysts, blood in the urine (typically not visible to the eye), leukoencephalopathy (a change in brain tissue that can be seen on MRI), arteries in the back of the eye that twist and turn abnormally, headaches, and supraventricular arrhythmia. These signs and symptoms do not often cause serious complications, however temporary vision loss due to bleeding in the back of the eye, minor ischemic stroke, and bleeding complications with blood thinner use has been described. While muscle cramps may begin in childhood, many of the other symptoms do not appear until later in life. HANAC syndrome is caused by mutations in the COL4A1 gene. It is passed through families in a autosomal dominant fashion.
These resources address the diagnosis or management of Bietti crystalline dystrophy: - Gene Review: Gene Review: Bietti Crystalline Dystrophy - Genetic Testing Registry: Bietti crystalline corneoretinal dystrophy 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
There is no cure for multiple system atrophy with orthostatic hypotension. Treatment is aimed at controlling symptoms. Anti-Parkinson medication such as Sinemet may improve the general sense of well-being. Medications to elevate blood pressure while standing are often used, but may cause high blood pressure when lying down. Individuals should sleep with the head of the bed elevated. An artificial feeding tube or breathing tube may be required for problems with swallowing and breathing.
How is early-onset, autosomal dominant Alzheimer disease inherited? Early-onset, autosomal dominant Alzheimer disease is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with this condition has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
These resources address the diagnosis or management of 17 alpha-hydroxylase/17,20-lyase deficiency: - Genetic Testing Registry: Deficiency of steroid 17-alpha-monooxygenase 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
In most cases, your primary care doctor can diagnose psoriasis simply by examining your skin. If your doctor isn't sure if you have psoriasis, he or she may order a biopsy. This involves removing a small sample of skin and looking at it under a microscope.
Radiation exposure, high levels of estrogen, and a family history of breast cancer can increase a mans risk of breast cancer. 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 doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for breast cancer in men may include the following: - Being exposed to radiation. - Having a disease linked to high levels of estrogen in the body, such as cirrhosis (liver disease) or Klinefelter syndrome (a genetic disorder.) - Having several female relatives who have had breast cancer, especially relatives who have an alteration of the BRCA2 gene.
Your doctor usually will diagnose bronchitis based on your signs and symptoms. He or she may ask questions about your cough, such as how long you've had it, what you're coughing up, and how much you cough. Your doctor also will likely ask: About your medical history Whether you've recently had a cold or the flu Whether you smoke or spend time around others who smoke Whether you've been exposed to dust, fumes, vapors, or air pollution Your doctor will use a stethoscope to listen for wheezing (a whistling or squeaky sound when you breathe) or other abnormal sounds in your lungs. He or she also may: Look at your mucus to see whether you have a bacterial infection Test the oxygen levels in your blood using a sensor attached to your fingertip or toe Recommend a chest x ray, lung function tests, or blood tests
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.
17-beta hydroxysteroid dehydrogenase 3 deficiencyis an inherited condition that affects male sexual development. People with this condition are genetically male and have testes, but do not produce enough testosterone. Most people with this condition are born with external genitalia that appear female. In some cases, the external genitalia are ambiguous or appear male but are abnormal in size and/or appearance. During puberty, people with this condition typically go on to develop male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern body hair. 17-beta hydroxysteroid dehydrogenase 3 deficiency is caused by mutations in the HSD17B3 gene and is inherited in an autosomal recessive pattern.
Is Klippel Feil syndrome inherited? In some cases, Klippel Feil syndrome (KFS) appears to occur randomly for unknown reasons (sporadically). In other cases, the condition appears to be genetic and may occur in more than one person in a family. Both autosomal dominant and autosomal recessive inheritance patterns have been reported, with different responsible genes. When KFS is caused by changes (mutations) in the GDF6 or GDF3 genes, it is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene is enough to cause features of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. When KFS is caused by mutations in the MEOX1 gene, it is inherited in an autosomal recessive manner. This means that a person must have mutations in both copies of the responsible gene to be affected. The parents of a person with an autosomal recessive condition usually each carry one mutated copy of the gene and are referred to as carriers. Carriers are typically unaffected. When two carriers of the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% risk to be unaffected and not be a carrier. When KFS occurs as a feature of another condition, the inheritance pattern follows that of the other condition.
Currently there are no medicines that can slow the progression of AD. However, four FDA-approved medications are used to treat AD symptoms. These drugs help individuals carry out the activities of daily living by maintaining thinking, memory, or speaking skills. They can also help with some of the behavioral and personality changes associated with AD. However, they will not stop or reverse AD and appear to help individuals for only a few months to a few years. Donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne) are prescribed to treat mild to moderate AD symptoms. Donepezil was recently approved to treat severe AD as well. The newest AD medication is memantine (Namenda), which is prescribed to treat moderate to severe AD symptoms.
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.
The NINDS conducts and supports a broad program of basic and clinical research on epilepsy including Lennox-Gastaut syndrome. These studies are aimed at finding the causes of these disorders, improving the diagnosis, and developing new medications and other therapies.
Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typically experienced after ingesting protein. People with lysinuric protein intolerance have features associated with protein intolerance, including an enlarged liver and spleen (hepatosplenomegaly), short stature, muscle weakness, impaired immune function, and progressively brittle bones that are prone to fracture (osteoporosis). A lung disorder called pulmonary alveolar proteinosis may also develop. This disorder is characterized by protein deposits in the lungs, which interfere with lung function and can be life-threatening. An accumulation of amino acids in the kidneys can cause end-stage renal disease (ESRD) in which the kidneys become unable to filter fluids and waste products from the body effectively. A lack of certain amino acids can cause elevated levels of ammonia in the blood. If ammonia levels are too high for too long, they can cause coma and intellectual disability. The signs and symptoms of lysinuric protein intolerance typically appear after infants are weaned and receive greater amounts of protein from solid foods.
What are the signs and symptoms of Amyotonia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotonia congenita. 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 - Skeletal muscle atrophy - 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.
Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but it rarely causes symptoms unless the immune system becomes severely weakened. The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS).
When frontonasal dysplasia is caused by mutations in the ALX1 or ALX3 gene, it 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. When ALX4 gene mutations cause frontonasal dysplasia, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Autosomal recessive axonal neuropathy with neuromyotonia is a rare form of inherited peripheral neuropathy. This group of conditions affects an estimated 1 in 2,500 people. The prevalence of autosomal recessive axonal neuropathy with neuromyotonia is unknown.
Mutations in the SPRED1 gene cause Legius syndrome. The SPRED1 gene provides instructions for making the Spred-1 protein. This protein controls (regulates) an important cell signaling pathway that is involved in the growth and division of cells (proliferation), the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis). Mutations in the SPRED1 gene lead to a nonfunctional protein that can no longer regulate the pathway, resulting in overactive signaling. It is unclear how mutations in the SPRED1 gene cause the signs and symptoms of Legius syndrome.
Summary : Cardiac rehabilitation (rehab) is a medically supervised program to help people who have - A heart attack - Angioplasty or coronary artery bypass grafting for coronary heart disease - A heart valve repair or replacement - A heart transplant or a lung transplant - Angina - Heart failure The goal is to help you return to an active life, and to reduce the risk of further heart problems. A team of specialists will create a plan for you that includes exercise training, education on heart healthy living, and counseling to reduce stress. You will learn how to reduce your risk factors, such as high blood pressure, high blood cholesterol, depression, and diabetes. Being overweight or obese, smoking, and not exercising are other risk factors. NIH: National Heart, Lung, and Blood Institute
What are the symptoms of diabetic mastopathy? Common symptoms of diabetic mastopathy include hard, irregular, easily movable, discrete, painless breast mass(es). This condition can involve one or both breasts and can affect males and females. The breast lesions may not be palpable in some patients. Patients with diabetic mastopathy who have had insulin-requiring diabetes for a long time (>15 years) commonly have other diabetes complications as well (e.g., thyroid, eye, and joint involvement).
X-linked chondrodysplasia punctata 2 has been estimated to affect fewer than 1 in 400,000 newborns. However, the disorder may actually be more common than this estimate because it is likely underdiagnosed, particularly in females with mild signs and symptoms. More than 95 percent of cases of X-linked chondrodysplasia punctata 2 occur in females. About a dozen males with the condition have been reported in the scientific literature.
If diagnosed early enough, the prognosis is usually excellent. If diagnosis is delayed, even a non-functioning tumor can cause problems if it grows large enough to press on the optic nerves, the brain, or the carotid arteries (the vessels that bring blood to the brain). Early diagnosis and treatment is the key to a good prognosis.
How might lipodermatosclerosis be treated? Lipodermatosclerosis is primarily treated with compression therapy to improve venous insufficiency. Other strategies for managing venous insufficiency include leg elevation; not sitting or standing in one place for long periods of time; regular exercise; and weight loss if overweight or obese. Some affected people may require medications to prevent blood clotting; reduce pain and inflammation; and/or increase blood flow. Depending on the severity of the condition and the response to initial treatments, vein surgery may be recommended.
The outlook for someone with Wallenbergs syndrome depends upon the size and location of the area of the brain stem damaged by the stroke. Some individuals may see a decrease in their symptoms within weeks or months. Others may be left with significant neurological disabilities for years after the initial symptoms appeared.
Absence of the SP alone is not a disorder but is instead a characteristic noted in children with septo-optic dysplasia or other developmental anomalies.
Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval, purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute).
Summary : A hysterectomy is surgery to remove a woman's uterus or womb. The uterus is the place where a baby grows when a woman is pregnant. After a hysterectomy, you no longer have menstrual periods and can't become pregnant. Sometimes the surgery also removes the ovaries and fallopian tubes. If you have both ovaries taken out, you will enter menopause. Your health care provider might recommend a hysterectomy if you have - Fibroids - Endometriosis that hasn't been cured by medicine or surgery - Uterine prolapse - when the uterus drops into the vagina - Cancer of the uterine, cervix, or ovaries - Vaginal bleeding that persists despite treatment - Chronic pelvic pain, as a last resort Dept. of Health and Human Services Office on Women's Health
Some people with porphyria-causing gene mutations have latent porphyria, meaning they have no symptoms of the disorder. Symptoms of cutaneous porphyrias include - oversensitivity to sunlight - blisters on exposed areas of the skin - itching and swelling on exposed areas of the skin Symptoms of acute porphyrias include - pain in the abdomenthe area between the chest and hips - pain in the chest, limbs, or back - nausea and vomiting - constipationa condition in which an adult has fewer than three bowel movements a week or a child has fewer than two bowel movements a week, depending on the person - urinary retentionthe inability to empty the bladder completely - confusion - hallucinations - seizures and muscle weakness Symptoms of acute porphyrias can develop over hours or days and last for days or weeks. These symptoms can come and go over time, while symptoms of cutaneous porphyrias tend to be more continuous. Porphyria symptoms can vary widely in severity.
The prevalence of X-linked creatine deficiency is unknown. More than 150 affected individuals have been identified. The disorder has been estimated to account for between 1 and 2 percent of males with intellectual disability.
Plague is an infection caused by the bacterium Yersinia pestis. The bacteria are found mainly in rats and in the fleas that feed on them. People and other animals can get plague from rat or flea bites. In the past, plague destroyed entire civilizations. Today plague is uncommon, due to better living conditions and antibiotics. There are three forms of plague: - Bubonic plague causes the tonsils, adenoids, spleen, and thymus to become inflamed. Symptoms include fever, aches, chills, and tender lymph glands. - In septicemic plague, bacteria multiply in the blood. It causes fever, chills, shock, and bleeding under the skin or other organs. - Pneumonic plague is the most serious form. Bacteria enter the lungs and cause pneumonia. People with the infection can spread this form to others. This type could be a bioterror agent. Lab tests can diagnose plague. Treatment is a strong antibiotic. There is no vaccine. NIH: National Institute of Allergy and Infectious Diseases
How is periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) diagnosed? There are no laboratory tests or imaging procedures specific to the diagnosis of PFAPA. This condition is clinically diagnosed in individuals who have a history of 3 or more episodes of fevers that last up to 5 days and recur at regular intervals without other evidence of acute illness. Pharyngitis (sore throat) plus adenopathy (swollen lymph nodes) or aphthous ulcers (canker sores) are also noted. Blood tests like white blood cell count, C-reactive protein, and erythrocyte sedimentation rate (ESR) are often elevated during an acute attack (but normal between attacks). It is important to rule out other conditions that may present with similar symptoms (for example, strep throat). The dramatic response to treatment can help to confirm the diagnosis.
- Gastritis is a condition in which the stomach liningknown as the mucosais inflamed, or swollen. - Common causes of gastritis include Helicobacter pylori (H. pylori) infection, damage to the stomach lining, and an autoimmune response. - Some people who have gastritis have pain or discomfort in the upper part of the abdomen. However, many people with gastritis do not have any signs and symptoms. - Erosive gastritis may cause ulcers or erosions in the stomach lining that can bleed. A person with any signs or symptoms of bleeding in the stomach should call or see a health care provider right away. - A health care provider diagnoses gastritis based on a medical history, a physical exam, upper GI endoscopy, and other tests. - Health care providers treat gastritis with medications to reduce the amount of acid in the stomach and treat the underlying cause.
Lyme disease is the most common tickborne infectious disease in the United States. Early signs and symptoms of the condition include fever, chills, muscle pain, headache, and joint pain. As the condition progresses, affected people may experience heart problems, Bell's palsy, arthritis, abnormal muscle movement, speech problems and cognitive (thinking) abnormalities. Please visit the Center for Disease Control and Prevention's Web site for a more comprehensive list of symptoms. Lyme disease is caused by the bacterium Borrelia burgdorferi, which is transmitted to humans through the bite of infected blacklegged ticks. Certain features of the condition, including whether or not an affected person will develop medication-resistant chronic arthritis, is thought to be influenced by genetic factors (certain human leukocyte antigen genes). Treatment generally includes antibiotics to address the bacterial infection and other medications (i.e. pain medications) to relieve symptoms.
SYNGAP1-related intellectual disability is a relatively common form of cognitive impairment. It is estimated to account for 1 to 2 percent of intellectual disability cases.
There are a variety of substances you can inhale that can cause acute internal injuries. Particles in the air from fires and toxic fumes can damage your eyes and respiratory system. They also can make chronic heart and lung diseases worse. Symptoms of acute inhalation injuries may include - Coughing and phlegm - A scratchy throat - Irritated sinuses - Shortness of breath - Chest pain or tightness - Headaches - Stinging eyes - A runny nose - If you already have asthma, it may get worse. The best way to prevent inhalation injuries is to limit your exposure. If you smell or see smoke, or know that fires are nearby, you should leave the area if you are at greater risk from breathing smoke. Environmental Protection Agency
Mutations in the ATL1 gene cause spastic paraplegia type 3A. The ATL1 gene provides instructions for producing a protein called atlastin-1. Atlastin-1 is produced primarily in the brain and spinal cord (central nervous system), particularly in nerve cells (neurons) that extend down the spinal cord (corticospinal tracts). These neurons send electrical signals that lead to voluntary muscle movement. Atlastin-1 is involved in the growth of specialized extensions of neurons, called axons, which transmit nerve impulses that signal muscle movement. The protein also likely plays a role in the normal functioning of multiple structures within neurons and in distributing materials within these cells. ATL1 gene mutations likely lead to a shortage of normal atlastin-1 protein, which impairs the functioning of neurons, including the distribution of materials within these cells. This lack of functional atlastin-1 protein may also restrict the growth of axons. These problems can lead to the abnormal functioning or death of the long neurons of the corticospinal tracts. As a result, the neurons are unable to transmit nerve impulses, particularly to other neurons and muscles in the lower extremities. This impaired nerve function leads to the signs and symptoms of spastic paraplegia type 3A.
What are the signs and symptoms of Pili annulati? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili annulati. 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) Fine hair 90% Abnormality of the hair - 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.
These resources address the diagnosis or management of coloboma: - Genetic Testing Registry: Congenital ocular coloboma - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 1 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 2 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 3 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 4 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 5 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 6 - National Eye Institute: Facts About Uveal Coloboma 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
Your small intestine is part of your digestive system. It is a long tube that connects your stomach to your large intestine. Intestinal cancer is rare, but eating a high-fat diet or having Crohn's disease, celiac disease, or a history of colonic polyps can increase your risk. Possible signs of small intestine cancer include - Abdominal pain - Weight loss for no reason - Blood in the stool - A lump in the abdomen Imaging tests that create pictures of the small intestine and the area around it can help diagnose intestinal cancer and show whether it has spread. Surgery is the most common treatment. Additional options include chemotherapy, radiation therapy, or a combination. NIH: National Cancer Institute
Hypotonia is a medical term used to describe decreased muscle tone. Normally, even when relaxed, muscles have a very small amount of contraction that gives them a springy feel and provides some resistance to passive movement. It is not the same as muscle weakness, although the two conditions can co-exist. Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscles to contract. Hypotonia can happen from damage to the brain, spinal cord, nerves, or muscles. The damage can be the result of trauma, environmental factors, or genetic, muscle, or central nervous system disorders. For example, it can be seen in Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic dystrophy, and Tay-Sachs disease. Sometimes it may not be possible to find what causes the hypotonia. Infants with hypotonia have a floppy quality or rag doll appearance because their arms and legs hang by their sides and they have little or no head control. Other symptoms of hypotonia include problems with mobility and posture, breathing and speech difficulties, ligament and joint laxity, and poor reflexes. Hypotonia does not affect intellect. The opposite of hypotonia is hypertonia.
Signs and symptoms of Ewing sarcoma include swelling and pain near the tumor. These and other signs and symptoms may be caused by Ewing sarcoma or by other conditions. Check with your childs doctor if your child has any of the following: - Pain and/or swelling, usually in the arms, legs, chest, back, or pelvis. - A lump (which may feel soft and warm) in the arms, legs, chest, or pelvis. - Fever for no known reason. - A bone that breaks for no known reason.
These resources address the diagnosis or management of prolidase deficiency: - Gene Review: Gene Review: Prolidase Deficiency - Genetic Testing Registry: Prolidase deficiency 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 is adult-onset vitelliform macular dystrophy inherited? The majority of cases with an identified family history or genetic cause are inherited in an autosomal dominant manner. This means that in order to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from a new (de novo) mutation in the gene. These cases occur in people with no history of the disorder in their family. When caused by a known mutation inherited in an autosomal dominant manner, a person with adult-onset macular dystrophy (AVMD) has a 50% chance with each pregnancy of passing along the altered gene to his or her child. The inheritance pattern of AVMD can be confusing as not all individuals with AVMD have a family history and not all individuals who inherit a causative gene mutation develop symptoms.
A cataract is a clouding of the lens in the eye that affects vision. Most cataracts are related to aging. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other.
A health care provider may advise people with kidney disease who have anemia caused by iron, vitamin B12, or folic acid deficiencies to include sources of these nutrients in their diets. Some of these foods are high in sodium or phosphorus, which people with CKD should limit in their diet. Before making any dietary changes, people with CKD should talk with their health care provider or with a dietitian who specializes in helping people with kidney disease. A dietitian can help a person plan healthy meals. Read more about nutrition for people with CKD on the National Kidney Disease Education Program website. The following chart illustrates some good dietary sources of iron, vitamin B12, and folic acid. Food Serving Size Iron Vitamin B12 Folic Acid Recommended Daily Value 18 mg 6 mcg 400 mcg 100 percent fortified breakfast cereal cup (1 oz) 18 mg 6 mcg 394 mcg beans, baked 1 cup (8 oz) 8 mg 0 mcg 37 mcg beef, ground 3 oz 2 mg 2 mcg 8 mcg beef liver 3 oz 5 mg 67 mcg 211 mcg clams, fried 4 oz 3 mg 1 mcg 66 mcg spinach, boiled 1 cup (3 oz) 2 mg 0 mcg 115 mcg spinach, fresh 1 cup (1 oz) 1 mg 0 mcg 58 mcg trout 3 oz 0 mg 5 mcg 16 mcg tuna, canned 3 oz 1 mg 1 mcg 2 mcg
CCHS is a relatively rare disorder. Approximately 1,000 individuals with this condition have been identified. Researchers believe that some cases of sudden infant death syndrome (SIDS) or sudden unexplained death in children may be caused by undiagnosed CCHS.
How is hypokalemic 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. In most cases, an affected person has one parent with the condition.
A hiatal hernia is a condition in which the upper part of the stomach bulges through an opening in the diaphragm. The diaphragm is the muscle wall that separates the stomach from the chest. The diaphragm helps keep acid from coming up into the esophagus. When you have a hiatal hernia, it's easier for the acid to come up. The leaking of acid from the stomach into the esophagus is called gastroesophageal reflux disease (GERD). GERD may cause symptoms such as - Heartburn - Problems swallowing - A dry cough - Bad breath Hiatal hernias are common, especially in people over age 50. If you have symptoms, eating small meals, avoiding certain foods, not smoking or drinking alcohol, and losing weight may help. Your doctor may recommend antacids or other medicines. If these don't help, you may need surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Human T-cell leukemia virus, type 2 (HTLV-2) is a retroviral infection that affect the T cells (a type of white blood cell). Although this virus generally causes no signs or symptoms, scientists suspect that some affected people may later develop neurological problems and/or chronic lung infections. HTLV-2 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. There is no cure or treatment for HTLV-2 and it is considered a lifelong condition; however, most infected people remain asymptomatic (show no symptoms) throughout life.
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.
In panic disorder, a person has sudden, unexplained attacks of terror, and often feels his or her heart pounding. During a panic attack, a person feels a sense of unreality, a fear of impending doom, or a fear of losing control. Panic attacks can occur at any time. People with panic disorder may have - sudden and repeated attacks of fear - a feeling of being out of control during a panic attack - an intense worry about when the next attack will happen - a fear or avoidance of places where panic attacks have occurred in the past - physical symptoms during an attack, such as a pounding or racing heart, sweating, breathing problems, weakness or dizziness, feeling hot or a cold chill, tingly or numb hands, chest pain, or stomach pain. sudden and repeated attacks of fear a feeling of being out of control during a panic attack an intense worry about when the next attack will happen a fear or avoidance of places where panic attacks have occurred in the past physical symptoms during an attack, such as a pounding or racing heart, sweating, breathing problems, weakness or dizziness, feeling hot or a cold chill, tingly or numb hands, chest pain, or stomach pain. Learn more about panic disorder.

Subsets and Splits

No community queries yet

The top public SQL queries from the community will appear here once available.