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What are the symptoms of Familial hemiplegic migraine type 3 ? | What are the signs and symptoms of Familial hemiplegic migraine type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% Autosomal dominant inheritance - Blindness - Hemiparesis - Hemiplegia - Migraine with aura - Photophobia - Seizures - 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. | [
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What are the genetic changes related to Holt-Oram syndrome ? | Mutations in the TBX5 gene cause Holt-Oram syndrome. This gene provides instructions for making a protein that plays a role in the development of the heart and upper limbs before birth. In particular, this gene appears to be important for the process that divides the developing heart into four chambers (cardiac septation). The TBX5 gene also appears to play a critical role in regulating the development of bones in the arm and hand. Mutations in this gene probably disrupt the development of the heart and upper limbs, leading to the characteristic features of Holt-Oram syndrome. | [
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What is (are) Silver syndrome ? | Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. Both types involve the lower limbs; the complex types may also involve the upper limbs, although to a lesser degree. In addition, the complex types may affect the brain and parts of the nervous system involved in muscle movement and sensations. Silver syndrome is a complex hereditary spastic paraplegia. The first sign of Silver syndrome is usually weakness in the muscles of the hands. These muscles waste away (amyotrophy), resulting in abnormal positioning of the thumbs and difficulty using the fingers and hands for tasks such as handwriting. People with Silver syndrome often have high-arched feet (pes cavus) and spasticity in the legs. The signs and symptoms of Silver syndrome typically begin in late childhood but can start anytime from early childhood to late adulthood. The muscle problems associated with Silver syndrome slowly worsen with age, but affected individuals can remain active throughout life. | [
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What causes Cryptogenic organizing pneumonia ? | What causes cryptogenic organizing pneumonia? The underlying cause of cryptogenic organizing pneumonia (COP) is unknown (idiopathic). Organizing pneumonia is specifically diagnosed as COP when, among other characteristics, no definite cause for the organizing pneumonia is found. In other words, any known cause for the pneumonia must be ruled out before stating that a person is affected by COP. Other forms of organizing pneumonia may result from infection (bacteria, viruses, parasites, or fungi); drugs; or a reaction to radiation therapy for breast cancer. Organizing pneumonia can also be associated with specific disorders such as certain connective tissue disorders, blood malignancies (cancers), or ulcerative colitis. | [
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What are the treatments for Parkes Weber syndrome ? | These resources address the diagnosis or management of Parkes Weber syndrome: - Gene Review: Gene Review: RASA1-Related Disorders - Genetic Testing Registry: Parkes Weber syndrome 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 | [
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How many people are affected by prostate cancer ? | About 1 in 7 men will be diagnosed with prostate cancer at some time during their life. In addition, studies indicate that many older men have undiagnosed prostate cancer that is non-aggressive and unlikely to cause symptoms or affect their lifespan. While most men who are diagnosed with prostate cancer do not die from it, this common cancer is still the second leading cause of cancer death among men in the United States. More than 60 percent of prostate cancers are diagnosed after age 65, and the disorder is rare before age 40. In the United States, African Americans have a higher risk of developing prostate cancer than do men of other ethnic backgrounds, and they also have a higher risk of dying from the disease. | [
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How many people are affected by hereditary neuropathy with liability to pressure palsies ? | Hereditary neuropathy with liability to pressure palsies is estimated to occur in 2 to 5 per 100,000 individuals. | [
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What are the symptoms of Hermansky-Pudlak syndrome ? | What are the signs and symptoms of Hermansky-Pudlak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hermansky-Pudlak syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of coagulation 90% Generalized hypopigmentation 90% Nystagmus 90% Ocular albinism 90% Visual impairment 90% Abnormality of the macula 50% Abnormality of the menstrual cycle 50% Abnormality of visual evoked potentials 50% Astigmatism 50% Bruising susceptibility 50% Cataract 50% Epistaxis 50% Hypopigmentation of hair 50% Myopia 50% Optic atrophy 50% Photophobia 50% Pulmonary fibrosis 50% Renal insufficiency 50% Strabismus 50% Abdominal pain 7.5% Abnormality of dental enamel 7.5% Abnormality of neutrophils 7.5% Abnormality of the eyelashes 7.5% Abnormality of thrombocytes 7.5% Gastrointestinal hemorrhage 7.5% Hyperkeratosis 7.5% Hypertrophic cardiomyopathy 7.5% Inflammation of the large intestine 7.5% Malabsorption 7.5% Melanocytic nevus 7.5% Neoplasm of the skin 7.5% Respiratory insufficiency 7.5% Weight loss 7.5% Abnormality of the hair - Albinism - Autosomal recessive inheritance - Cardiomyopathy - Freckles in sun-exposed areas - Freckling - Gingival bleeding - Hematochezia - Heterogeneous - Prolonged bleeding time - Restrictive lung disease - Severe visual impairment - 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. | [
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What are the symptoms of Cone-rod dystrophy 2 ? | What are the signs and symptoms of Cone-rod dystrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of color vision - Autosomal dominant inheritance - Blindness - Chorioretinal atrophy - Cone/cone-rod dystrophy - Constriction of peripheral visual field - Nyctalopia - Peripheral visual field loss - Reduced visual acuity - 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. | [
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What are the treatments for Klumpke paralysis ? | 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 | [
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Who is at risk for Heart Failure? ? | About 5.7 million people in the United States have heart failure. The number of people who have this condition is growing.
Heart failure is more common in:
People who are age 65 or older. Aging can weaken the heart muscle. Older people also may have had diseases for many years that led to heart failure. Heart failure is a leading cause of hospital stays among people on Medicare.
Blacks are more likely to have heart failure than people of other races. Theyre also more likely to have symptoms at a younger age, have more hospital visits due to heart failure, and die from heart failure.
People who areoverweight. Excess weight puts strain on the heart. Being overweight also increases your risk of heart disease and type 2diabetes. These diseases can lead to heart failure.
People who have had a heart attack. Damage to the heart muscle from a heart attack and can weaken the heart muscle.
Children who havecongenital heart defectsalso can develop heart failure. These defects occur if the heart, heart valves, or blood vessels near the heart dont form correctly while a baby is in the womb. Congenital heart defects can make the heart work harder. This weakens the heart muscle, which can lead to heart failure. Children dont have the same symptoms of heart failure or get the same treatments as adults. This Health Topic focuses on heart failure in adults. | [
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How many people are affected by multiple lentigines syndrome ? | Multiple lentigines syndrome is thought to be a rare condition; approximately 200 cases have been reported worldwide. | [
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Is Lujan syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. | [
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How many people are affected by alpha-1 antitrypsin deficiency ? | Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies by population. This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry. It is uncommon in people of Asian descent. Many individuals with alpha-1 antitrypsin deficiency are likely undiagnosed, particularly people with a lung condition called chronic obstructive pulmonary disease (COPD). COPD can be caused by alpha-1 antitrypsin deficiency; however, the alpha-1 antitrypsin deficiency is often never diagnosed. Some people with alpha-1 antitrypsin deficiency are misdiagnosed with asthma. | [
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What is (are) Notalgia paresthetica ? | Notalgia paresthetica is a common chronic, localized itch, that usually affects patches of skin on the upper back. Occasionally be more widespread and involve other parts of the back, the shoulders and upper chest. People feel both the sensation of an itch and paresthesia (a sensation of tingling, pricking, or numbness of the skin). There are no signs on the skin except for signs of chronic scratching and rubbing. Amyloid deposits (a collection of a specific type of protein) may be found in skin biopsies, but this is thought to be a secondary event. The cause of the itch in notalgia paresthetica may be due to the compression of spinal nerves by bones or muscles as the nerves emerge through the vertebrae to the back muscles. Sometimes degenerative changes in the area of the vertebrae that innervate the affected back muscles can be seen, but not always. Symptoms of notalgia paresthetica may respond to topical capsaicin treatment. | [
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What are the symptoms of Scapuloperoneal syndrome, neurogenic, Kaeser type ? | What are the signs and symptoms of Scapuloperoneal syndrome, neurogenic, Kaeser type? The Human Phenotype Ontology provides the following list of signs and symptoms for Scapuloperoneal syndrome, neurogenic, Kaeser 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 - Foot dorsiflexor weakness - Peroneal muscle atrophy - Scapuloperoneal weakness - Shoulder girdle muscle atrophy - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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What is (are) Motor Neuron Diseases ? | The motor neuron diseases (MNDs) are a group of progressive neurological disorders that destroy cells that control essential muscle activity such as speaking, walking, breathing, and swallowing. Normally, messages from nerve cells in the brain (called upper motor neurons) are transmitted to nerve cells in the brain stem and spinal cord (called lower motor neurons) and from them to particular muscles. When there are disruptions in these signals, the result can be gradual muscle weakening, wasting away, and uncontrollable twitching (called fasciculations). Eventually, the ability to control voluntary movement can be lost. MNDs may be inherited or acquired, and they occur in all age groups. MNDs occur more commonly in men than in women, and symptoms may appear after age 40. In children, particularly in inherited or familial forms of the disease, symptoms can be present at birth or appear before the child learns to walk.
The causes of sporadic (noninherited) MNDs are not known, but environmental, toxic, viral, or genetic factors may be implicated. Common MNDs include amyotrophic lateral sclerosis (ALS), progressive bulbar palsy, primary lateral sclerosis, and progressive muscular atrophy. Other MNDs include the many inherited forms of spinal muscular atrophy and post-polio syndrome, a condition that can strike polio survivors decades after their recovery from poliomyelitis. | [
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What are the treatments for D-bifunctional protein deficiency ? | These resources address the diagnosis or management of D-bifunctional protein deficiency: - Gene Review: Gene Review: Leukodystrophy Overview - Genetic Testing Registry: Bifunctional peroxisomal enzyme 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 | [
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What are the treatments for Cystic Fibrosis ? | Cystic fibrosis (CF) has no cure. However, treatments have greatly improved in recent years. The goals of CF treatment include:
Preventing and controlling lung infections
Loosening and removing thick, sticky mucus from the lungs
Preventing or treating blockages in the intestines
Providing enough nutrition
Preventing dehydration (a lack of fluid in the body)
Depending on the severity of CF, you or your child may be treated in a hospital.
Specialists Involved
If you or your child has CF, you may be treated by a CF specialist. This is a doctor who is familiar with the complex nature of CF.
Often, a CF specialist works with a medical team of nurses, physical therapists, dietitians, and social workers. CF specialists often are located at major medical centers.
The United States also has more than 100 CF Care Centers. These centers have teams of doctors, nurses, dietitians, respiratory therapists, physical therapists, and social workers who have special training related to CF care. Most CF Care Centers have pediatric and adult programs or clinics.
For more information about CF Care Centers, go to the Cystic Fibrosis Foundation's Care Center Network Web page.
Treatment for Lung Problems
The main treatments for lung problems in people who have CF are chest physical therapy (CPT), exercise, and medicines. Your doctor also may recommend a pulmonary rehabilitation (PR) program.
Chest Physical Therapy
CPT also is called chest clapping or percussion. It involves pounding your chest and back over and over with your hands or a device to loosen the mucus from your lungs so that you can cough it up.
You might sit down or lie on your stomach with your head down while you do CPT. Gravity and force help drain the mucus from your lungs.
Some people find CPT hard or uncomfortable to do. Several devices have been developed that may help with CPT, such as:
An electric chest clapper, known as a mechanical percussor.
An inflatable therapy vest that uses high-frequency airwaves to force the mucus that's deep in your lungs toward your upper airways so you can cough it up.
A small, handheld device that you exhale through. The device causes vibrations that dislodge the mucus.
A mask that creates vibrations that help break the mucus loose from your airway walls.
Breathing techniques also may help dislodge mucus so you can cough it up. These techniques include forcing out a couple of short breaths or deeper breaths and then doing relaxed breathing. This may help loosen the mucus in your lungs and open your airways.
Exercise
Aerobic exercise that makes you breathe harder can help loosen the mucus in your airways so you can cough it up. Exercise also helps improve your overall physical condition.
However, CF causes your sweat to become very salty. As a result, your body loses large amounts of salt when you sweat. Thus, your doctor may recommend a high-salt diet or salt supplements to maintain the balance of minerals in your blood.
If you exercise regularly, you may be able to cut back on your CPT. However, you should check with your doctor first.
Medicines
If you have CF, your doctor may prescribe antibiotics, anti-inflammatory medicines, bronchodilators, or medicines to help clear the mucus. These medicines help treat or prevent lung infections, reduce swelling and open up the airways, and thin mucus. If you have mutations in a gene called G551D, which occurs in about 5 percent of people who have CF, your doctor may prescribe the oral medicine ivacaftor (approved for people with CF who are 6 years of age and older).
Antibiotics are the main treatment to prevent or treat lung infections. Your doctor may prescribe oral, inhaled, or intravenous (IV) antibiotics.
Oral antibiotics often are used to treat mild lung infections. Inhaled antibiotics may be used to prevent or control infections caused by the bacteria mucoid Pseudomonas. For severe or hard-to-treat infections, you may be given antibiotics through an IV tube (a tube inserted into a vein). This type of treatment may require you to stay in a hospital.
Anti-inflammatory medicines can help reduce swelling in your airways due to ongoing infections. These medicines may be inhaled or oral.
Bronchodilators help open the airways by relaxing the muscles around them. These medicines are inhaled. They're often taken just before CPT to help clear mucus out of your airways. You also may take bronchodilators before inhaling other medicines into your lungs.
Your doctor may prescribe medicines to reduce the stickiness of your mucus and loosen it up. These medicines can help clear out mucus, improve lung function, and prevent worsening lung symptoms.
Treatments for Advanced Lung Disease
If you have advanced lung disease, you may need oxygen therapy. Oxygen usually is given through nasal prongs or a mask.
If other treatments haven't worked, a lung transplant may be an option if you have severe lung disease. A lung transplant is surgery to remove a person's diseased lung and replace it with a healthy lung from a deceased donor.
Pulmonary Rehabilitation
Your doctor may recommend PR as part of your treatment plan. PR is a broad program that helps improve the well-being of people who have chronic (ongoing) breathing problems.
PR doesn't replace medical therapy. Instead, it's used with medical therapy and may include:
Exercise training
Nutritional counseling
Education on your lung disease or condition and how to manage it
Energy-conserving techniques
Breathing strategies
Psychological counseling and/or group support
PR has many benefits. It can improve your ability to function and your quality of life. The program also may help relieve your breathing problems. Even if you have advanced lung disease, you can still benefit from PR.
For more information, go to the Health Topics Pulmonary Rehabilitation article.
Treatment for Digestive Problems
CF can cause many digestive problems, such as bulky stools, intestinal gas, a swollen belly, severe constipation, and pain or discomfort. Digestive problems also can lead to poor growth and development in children.
Nutritional therapy can improve your strength and ability to stay active. It also can improve growth and development in children. Nutritional therapy also may make you strong enough to resist some lung infections. A nutritionist can help you create a nutritional plan that meets your needs.
In addition to having a well-balanced diet that's rich in calories, fat, and protein, your nutritional therapy may include:
Oral pancreatic enzymes to help you digest fats and proteins and absorb more vitamins.
Supplements of vitamins A, D, E, and K to replace the fat-soluble vitamins that your intestines can't absorb.
High-calorie shakes to provide you with extra nutrients.
A high-salt diet or salt supplements that you take before exercising.
A feeding tube to give you more calories at night while you're sleeping. The tube may be threaded through your nose and throat and into your stomach. Or, the tube may be placed directly into your stomach through a surgically made hole. Before you go to bed each night, you'll attach a bag with a nutritional solution to the entrance of the tube. It will feed you while you sleep.
Other treatments for digestive problems may include enemas and mucus-thinning medicines to treat intestinal blockages. Sometimes surgery is needed to remove an intestinal blockage.
Your doctor also may prescribe medicines to reduce your stomach acid and help oral pancreatic enzymes work better.
Treatments for Cystic Fibrosis Complications
A common complication of CF is diabetes. The type of diabetes associated with CF often requires different treatment than other types of diabetes.
Another common CF complication is the bone-thinning disorder osteoporosis. Your doctor may prescribe medicines that prevent your bones from losing their density. | [
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] |
What to do for Zollinger-Ellison Syndrome ? | - Zollinger-Ellison syndrome is a rare disorder that occurs when one or more tumors form in the pancreas and duodenum. - Experts do not know the exact cause of Zollinger-Ellison syndrome. - About 25 to 30 percent of gastrinomas are caused by an inherited genetic disorder called multiple endocrine neoplasia type 1 (MEN1). - Although anyone can get Zollinger-Ellison syndrome, the disease is more common among men 30 to 50 years old. - Zollinger-Ellison syndrome signs and symptoms are similar to those of peptic ulcers. - Some people with Zollinger-Ellison syndrome have only diarrhea, with no other symptoms. Others develop gastroesophageal reflux (GER). - A health care provider diagnoses Zollinger-Ellison syndrome based on the following: - medical history - physical exam - signs and symptoms - blood tests - upper gastrointestinal (GI) endoscopy - imaging tests to look for gastrinomas - measurement of stomach acid - A health care provider treats Zollinger-Ellison syndrome with medications to reduce gastric acid secretion and with surgery to remove gastrinomas. A health care provider sometimes uses chemotherapymedications to shrink tumorswhen tumors are too widespread to remove with surgery. | [
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What is (are) Ataxia Telangiectasia ? | Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech. The first signs of the disease are unsteady walking and slurred speech, usually occurring during the first five years of life. Telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of the disease, but are not always present and generally do not appear in the first years of life. About 35 percent of those with A-T develop cancer, most frequently acute lymphocytic leukemia or lymphoma. The most unusual symptom is an acute sensitivity to ionizing radiation, such as X-rays or gamma rays. Many individuals with A-T have a weakened immune system, making them susceptible to recurrent respiratory infections. Other features of the disease may include mild diabetes mellitus, premature graying of the hair, difficulty swallowing, and delayed physical and sexual development. Children with A-T usually have normal or above normal intelligence. | [
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How many people are affected by DOORS syndrome ? | DOORS syndrome is a rare disorder; its prevalence is unknown. Approximately 50 affected individuals have been described in the medical literature. | [
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What is (are) Cyclic Vomiting Syndrome ? | Cyclic vomiting syndrome, sometimes referred to as CVS, is an increasingly recognized disorder with sudden, repeated attacksalso called episodesof severe nausea, vomiting, and physical exhaustion that occur with no apparent cause. The episodes can last from a few hours to several days. Episodes can be so severe that a person has to stay in bed for days, unable to go to school or work. A person may need treatment at an emergency room or a hospital during episodes. After an episode, a person usually experiences symptom-free periods lasting a few weeks to several months. To people who have the disorder, as well as their family members and friends, cyclic vomiting syndrome can be disruptive and frightening.
The disorder can affect a person for months, years, or decades. Each episode of cyclic vomiting syndrome is usually similar to previous ones, meaning that episodes tend to start at the same time of day, last the same length of time, and occur with the same symptoms and level of intensity. | [
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What are the genetic changes related to Mabry syndrome ? | Mutations in the PIGV, PIGO, or PGAP2 gene cause Mabry syndrome. These genes are all involved in the production (synthesis) of a molecule called a glycosylphosphosphatidylinositol (GPI) anchor. This molecule is synthesized in a series of steps. It then attaches (binds) to various proteins and binds them to the outer surface of the cell membrane, ensuring that they are available when needed. Alkaline phosphatase is an example of a protein that is bound to the cell membrane by a GPI anchor. The proteins produced from the PIGV and PIGO genes are involved in piecing together the GPI anchor. After the complete GPI anchor is attached to a protein, the protein produced from the PGAP2 gene adjusts the anchor to enhance the anchor's ability to bind to the cell membrane. Mutations in the PIGV, PIGO, or PGAP2 gene result in the production of an incomplete GPI anchor that cannot attach to proteins or to cell membranes. Proteins lacking a functional GPI anchor cannot bind to the cell membrane and are instead released from the cell. The release of non-GPI anchored alkaline phosphatase elevates the amount of this protein in the blood, causing hyperphosphatasia in people with Mabry syndrome. It is unclear how gene mutations lead to the other features of Mabry syndrome, but these signs and symptoms are likely due to a lack of proper GPI anchoring of proteins. PIGV gene mutations are the most frequent cause of Mabry syndrome, accounting for approximately half of all cases. Mutations in the PIGO and PGAP2 genes are responsible for a small proportion of Mabry syndrome. The remaining affected individuals do not have an identified mutation in any of these three genes; the cause of the condition in these individuals is unknown. | [
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What are the genetic changes related to 21-hydroxylase deficiency ? | Mutations in the CYP21A2 gene cause 21-hydroxylase deficiency. The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase. This enzyme is found in the adrenal glands, where it plays a role in producing hormones called cortisol and aldosterone. Cortisol has numerous functions, such as maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation. Aldosterone is sometimes called the salt-retaining hormone because it regulates the amount of salt retained by the kidneys. The retention of salt affects fluid levels in the body and blood pressure. 21-hydroxylase deficiency is caused by a shortage (deficiency) of the 21-hydroxylase enzyme. When 21-hydroxylase is lacking, substances that are usually used to form cortisol and aldosterone instead build up in the adrenal glands and are converted to androgens. The excess production of androgens leads to abnormalities of sexual development in people with 21-hydroxylase deficiency. A lack of aldosterone production contributes to the salt loss in people with the salt-wasting form of this condition. The amount of functional 21-hydroxylase enzyme determines the severity of the disorder. Individuals with the salt-wasting type have CYP21A2 mutations that result in a completely nonfunctional enzyme. People with the simple virilizing type of this condition have CYP21A2 gene mutations that allow the production of low levels of functional enzyme. Individuals with the non-classic type of this disorder have CYP21A2 mutations that result in the production of reduced amounts of the enzyme, but more enzyme than either of the other types. | [
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What are the treatments for Immune Thrombocytopenia ? | Treatment for immune thrombocytopenia (ITP) is based on how much and how often you're bleeding and your platelet count.
Adults who have mild ITP may not need any treatment, other than watching their symptoms and platelet counts. Adults who have ITP with very low platelet counts or bleeding problems often are treated.
The acute (short-term) type of ITP that occurs in children often goes away within a few weeks or months. Children who have bleeding symptoms, other than merely bruising (purpura), usually are treated.
Children who have mild ITP may not need treatment other than monitoring and followup to make sure their platelet counts return to normal.
Medicines
Medicines often are used as the first course of treatment for both children and adults.
Corticosteroids (cor-ti-co-STEER-roids), such as prednisone, are commonly used to treat ITP. These medicines, called steroids for short, help increase your platelet count. However, steroids have many side effects. Some people relapse (get worse) when treatment ends.
The steroids used to treat ITP are different from the illegal steroids that some athletes take to enhance performance. Corticosteroids aren't habit-forming, even if you take them for many years.
Other medicines also are used to raise the platelet count. Some are given through a needle inserted into a vein. These medicines include rituximab, immune globulin, and anti-Rh (D) immunoglobulin.
Medicines also may be used with a procedure to remove the spleen called splenectomy (splee-NECK-tuh-mee).
If medicines or splenectomy don't help, two newer medicineseltrombopag and romiplostimcan be used to treat ITP.
Removal of the Spleen (Splenectomy)
If needed, doctors can surgically remove the spleen. This organ is located in the upper left abdomen. The spleen is about the size of a golf ball in children and a baseball in adults.
The spleen makes antibodies (proteins) that help fight infections. In ITP, these antibodies destroy platelets by mistake.
If ITP hasn't responded to medicines, removing the spleen will reduce the destruction of platelets. However, it also may raise your risk for infections. Before you have the surgery, your doctor may give you vaccines to help prevent infections.
If your spleen is removed, your doctor will explain what steps you can take to help avoid infections and what symptoms to watch for.
Other Treatments
Platelet Transfusions
Some people who have ITP with severe bleeding may need to have platelet transfusions and be hospitalized. Some people will need platelet transfusions before having surgery.
For a platelet transfusion, donor platelets from a blood bank are injected into the recipient's bloodstream. This increases the platelet count for a short time.
For more information about platelet transfusions, go to the Health Topics Blood Transfusion article.
Treating Infections
Some infections can briefly lower your platelet count. Treating the infection may help increase your platelet count and reduce bleeding problems.
Stopping Medicines
Some medicines can lower your platelet count or cause bleeding. Stopping the medicine can sometimes help raise your platelet count or prevent bleeding.
For example, aspirin and ibuprofen are common medicines that increase the risk of bleeding. If you have ITP, your doctor may suggest that you avoid these medicines. | [
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What are the symptoms of Cerulean cataract ? | What are the signs and symptoms of Cerulean cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerulean cataract. 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) Cerulean cataract 100% Macular hypoplasia 5% Retinal detachment 5% Autosomal dominant inheritance - Congenital cataract - Cortical pulverulent cataract - Iris coloboma - Microcornea - Sutural cataract - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | [
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What are the treatments for hereditary cerebral amyloid angiopathy ? | These resources address the diagnosis or management of hereditary cerebral amyloid angiopathy: - Genetic Testing Registry: Cerebral amyloid angiopathy, APP-related - Genetic Testing Registry: Dementia familial British - Genetic Testing Registry: Dementia, familial Danish - Genetic Testing Registry: Hereditary cerebral amyloid angiopathy, Icelandic type - Johns Hopkins Medicine: Intracerebral Hemorrhage - MedlinePlus Encyclopedia: Cerebral Amyloid Angiopathy 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 | [
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Is Dextrocardia with situs inversus inherited ? | Is dextrocardia with situs inversus inherited? In most cases of dextrocardia with situs inversus, a specific genetic cause has not been identified and inheritance patterns have not been confirmed. However, approximately 25% of affected people have primary ciliary dyskinesia, which is typically inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. | [
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What are the treatments for Parkes Weber syndrome ? | How might Parkes Weber syndrome be treated? For capillary malformations (such as port wine stains) that are of cosmetic concern, individuals may be referred to a dermatologist. For arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), the risks and benefits of intervention (i,e, embolization versus surgery) may be considered, usually with input from a multi-disciplinary team (e.g., specialists in interventional radiology, neurosurgery, surgery, cardiology, and dermatology). For risks associated with heart failure, referral to a cardiologist may be warranted. Hypertrophy (overgrowth) of the limb and/or difference in size between limbs may be treated surgically by an orthopedist. Supportive care may include compression garments (tight-fitting pieces of clothing on the affected limb to reduce pain and swelling); these may also protect the limb from bumps and scrapes, which can cause bleeding. Heel inserts may be used if the legs are different lengths, which can aid in walking normally. Various pain medications and antibiotic medications may be prescribed as needed. | [
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What are the genetic changes related to renal tubular dysgenesis ? | Mutations in the ACE, AGT, AGTR1, or REN gene can cause renal tubular dysgenesis. These genes are involved in the renin-angiotensin system, which regulates blood pressure and the balance of fluids and salts in the body and plays a role in kidney development before birth. The renin-angiotensin system consists of several proteins that are involved in a series of steps to produce a protein called angiotensin II. In the first step, the renin protein (produced from the REN gene) converts a protein called angiotensinogen (produced from the AGT gene) to angiotensin I. In the next step, angiotensin-converting enzyme (produced from the ACE gene) converts angiotensin I to angiotensin II. Angiotensin II attaches (binds) to the angiotensin II receptor type 1 (AT1 receptor; produced from the AGTR1 gene), stimulating chemical signaling. By binding to the AT1 receptor, angiotensin II causes blood vessels to narrow (constrict), which results in increased blood pressure. This protein also stimulates production of the hormone aldosterone, which triggers the absorption of salt and water by the kidneys. The increased amount of fluid in the body also increases blood pressure. Proper blood pressure, which delivers oxygen to the developing tissues during fetal growth, is required for normal development of the kidneys (particularly of the proximal tubules) and other tissues. Mutations in the ACE, AGT, AGTR1, or REN gene impair the production or function of angiotensin II, leading to a nonfunctional renin-angiotensin system. Without this system, the kidneys cannot control blood pressure. Because of low blood pressure, the flow of blood is reduced (hypoperfusion), and the fetal tissues do not get enough oxygen during development. As a result, kidney development is impaired, leading to the features of renal tubular dysgenesis. Hypoperfusion also causes the skull abnormalities found in individuals with this condition. Medications that block the activity of the angiotensin-converting enzyme or the AT1 receptor are used to treat high blood pressure. Because these drugs impair the renin-angiotensin system, they can cause an acquired (non-inherited) form of renal tubular dysgenesis in fetuses of pregnant women who take them. Acquired renal tubular dysgenesis can also result from other conditions that cause renal hypoperfusion during fetal development. These include heart problems, congenital hemochromatosis, and a complication that can occur in twin pregnancies called twin-to-twin transfusion syndrome. | [
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What are the symptoms of Urachal cyst ? | What are the signs and symptoms of a urachal cyst? In most cases, urachal cysts are not associated with any signs or symptoms unless there are complications such as infection. Possible symptoms vary, but may include: Lower abdominal pain Fever Abdominal lump or mass Pain with urination Urinary tract infection Hematuria | [
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What are the symptoms of Hypophosphatemic rickets ? | What are the signs and symptoms of Hypophosphatemic rickets? The symptoms of hypophosphatemic rickets usually begin in infancy or early childhood. Specific symptoms and severity can vary greatly among affected children. The condition can be so mild that there are no noticeable symptoms, or so severe that it causes bowing of the legs and other bone deformities; bone pain; joint pain; and short stature. Other symptoms may include premature closure of the skull bones in babies (craniosynostosis); limited joint movement; and dental abnormalities. If left untreated, symptoms worsen over time. The Human Phenotype Ontology provides the following list of signs and symptoms for Hypophosphatemic rickets. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental enamel 90% Abnormality of the metaphyses 90% Bone pain 90% Genu varum 90% Premature loss of teeth 90% Craniofacial hyperostosis 50% Enthesitis 50% Osteoarthritis 50% Short stature 50% Hearing impairment 7.5% Recurrent fractures 7.5% Abnormality of pelvic girdle bone morphology - Arthralgia - Bowing of the legs - Elevated alkaline phosphatase - Elevated circulating parathyroid hormone (PTH) level - Femoral bowing - Fibular bowing - Flattening of the talar dome - Frontal bossing - Hypomineralization of enamel - Hypophosphatemia - Hypophosphatemic rickets - Metaphyseal irregularity - Osteomalacia - Phenotypic variability - Renal phosphate wasting - Renal tubular dysfunction - Shortening of the talar neck - Spinal canal stenosis - Spinal cord compression - Tibial bowing - Trapezoidal distal femoral condyles - X-linked 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. | [
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What is the outlook for Endometrial Cancer ? | Certain factors affect prognosis (chance of recovery) and treatment options.The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether it is in the endometrium only, involves the uterus wall, or has spread to other places in the body). - How the cancer cells look under a microscope. - Whether the cancer cells are affected by progesterone. Endometrial cancer can usually be cured because it is usually diagnosed early. | [
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What causes Cerebellar degeneration ? | What causes cerebellar degeneration? Cerebellar degeneration can be caused by a variety of different conditions. Neurological diseases that can lead to cerebellar degeneration include: Acute and hemorrhagic stroke can result in a lack of blood flow or oxygen to the brain, leading to the death of neurons in the cerebellum and other brain structures. Cerebellar cortical atrophy, multisystem atrophy and olivopontocerebellar degeneration are progressive degenerative disorders that affect various parts of the nervous system, including the cerebellum. Spinocerebellar ataxias, including Friedreich ataxia, are caused by inherited changes (mutations) in many different genes and are characterized by cell death in the cerebellum, brain stem, and spinal cord. Transmissible spongiform encephalopathies (such as 'Mad Cow Disease' and Creutzfeldt-Jakob disease) are associated with inflammation of the brain, particularly in the cerebellum, that is caused by abnormal proteins. Multiple sclerosis occurs when the insulating membrane (myelin) that wraps around and protects nerve cells (including those of the cerebellum) become damaged. Other conditions that can lead to temporary or permanent cerebellar damage include chronic alcohol abuse and paraneoplastic disorders. | [
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What is (are) Aberrant subclavian artery ? | Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is often discovered as an incidental finding (such as through a barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in children may present as feeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies. | [
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What are the treatments for Hearing Loss ? | Assistive Listening Devices Assistive listening devices devices can help you hear in certain listening environments. These can include telephone and cell phone amplifying devices, smart phone or tablet "apps," and closed circuit systems (induction coil loops) in places of worship, theaters, and auditoriums. TV listening systems help you listen to the television or the radio without being bothered by other noises around you. Some hearing aids can be plugged into televisions or stereos to help you hear better. Cochlear Implant If your hearing loss is severe and of a certain type, your doctor may suggest that you talk to an otolaryngologist about a cochlear implant. An otolaryngologist is a surgeon who specializes in ear, nose, and throat diseases. A cochlear implant is a small electronic device that the surgeon places under the skin and behind the ear. The device picks up sounds, changes them to electrical signals, and sends them past the non-working part of the inner ear and on to the brain. Hearing through a cochlear implant sounds different from normal hearing, but it lets many people communicate orally in person and over the telephone, and perceive sounds in the environment. | [
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What is the outlook for Leigh's Disease ? | The prognosis for individuals with Leigh's disease is poor. Individuals who lack mitochondrial complex IV activity and those with pyruvate dehydrogenase deficiency tend to have the worst prognosis and die within a few years. Those with partial deficiencies have a better prognosis, and may live to be 6 or 7 years of age. Some have survived to their mid-teenage years. | [
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Who is at risk for Parasites - Loiasis? ? | Loa loa parasites are found in West and Central Africa. Ten countries have areas where there are high rates of infection (i.e., where more than 40% of the people who live in that area report that they have had eye worm in the past). An estimated 14.4 million people live in these areas of high rates of infection. Another 15.2 live in areas where 20–40% of people report that they have had eye worm in the past.
More on: Where Loa Loa is Prevelant [WHO Map]
The people most at risk for loiasis are those who live in the certain rain forests in West and Central Africa. The deerflies that pass the parasite to humans usually bite during the day and are more common during the rainy season. They are attracted by the movement of people and by smoke from wood fires. Rubber plantations are areas where more deerflies may be found. The flies do not typically enter homes, but they might be attracted to homes that are well lit.
Travelers are more likely to become infected if they are in areas where they are bitten by deerflies for many months, though occasionally they get infected even if they are in an affected area for less than 30 days.
Your risk of infection depends on the number of bites received, the number of infected deerflies in the area you visit, and the length of your stay in the area. | [
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What is (are) Malaria ? | Malaria is a serious disease caused by a parasite. You get it when an infected mosquito bites you. Malaria is a major cause of death worldwide, but it is almost wiped out in the United States. The disease is mostly a problem in developing countries with warm climates. If you travel to these countries, you are at risk. There are four different types of malaria caused by four related parasites. The most deadly type occurs in Africa south of the Sahara Desert. Malaria symptoms include chills, flu-like symptoms, fever, vomiting, diarrhea, and jaundice. A blood test can diagnose it. It can be life-threatening. However, you can treat malaria with drugs. The type of drug depends on which kind of malaria you have and where you were infected. Malaria can be prevented. When traveling to areas where malaria is found - See your doctor for medicines that protect you - Wear insect repellent with DEET - Cover up - Sleep under mosquito netting Centers for Disease Control and Prevention | [
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What is (are) Prostate Cancer ? | Sometimes, cancer cells break away from the malignant tumor in the prostate and enter the bloodstream or the lymphatic system and travel to other organs in the body. When cancer spreads from its original location in the prostate to another part of the body such as the bone, it is called metastatic prostate cancer, not bone cancer. Doctors sometimes call this "distant" disease. | [
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How many people are affected by oral-facial-digital syndrome ? | Oral-facial-digital syndrome has an estimated incidence of 1 in 50,000 to 250,000 newborns. Type I accounts for the majority of cases of this disorder. The other forms of oral-facial-digital syndrome are very rare; most have been identified in only one or a few families. | [
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What is (are) Y chromosome infertility ? | Y chromosome infertility is a condition that affects the production of sperm, making it difficult or impossible for affected men to father children. An affected man's body may produce no sperm cells (azoospermia), a smaller than usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly. Some men with Y chromosome infertility who have mild to moderate oligospermia may eventually father a child naturally. Assisted reproductive technologies may help other affected men; most men with Y chromosome infertility have some sperm cells in the testes that can be extracted for this purpose. The most severely affected men do not have any mature sperm cells in the testes. This form of Y chromosome infertility is called Sertoli cell-only syndrome. Men with Y chromosome infertility usually do not have any other signs or symptoms. Occasionally they may have unusually small testes or undescended testes (cryptorchidism). | [
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What are the treatments for biotinidase deficiency ? | These resources address the diagnosis or management of biotinidase deficiency: - Baby's First Test - Gene Review: Gene Review: Biotinidase Deficiency - Genetic Testing Registry: Biotinidase deficiency - MedlinePlus Encyclopedia: Pantothenic Acid and Biotin 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 | [
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What is (are) Heart Failure ? | Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. Heart failure does not mean that your heart has stopped or is about to stop working. It means that your heart is not able to pump blood the way it should. It can affect one or both sides of the heart. The weakening of the heart's pumping ability causes - Blood and fluid to back up into the lungs - The buildup of fluid in the feet, ankles and legs - called edema - Tiredness and shortness of breath Common causes of heart failure are coronary artery disease, high blood pressure and diabetes. It is more common in people who are 65 years old or older, African Americans, people who are overweight, and people who have had a heart attack. Men have a higher rate of heart failure than women. Your doctor will diagnose heart failure by doing a physical exam and heart tests. Treatment includes treating the underlying cause of your heart failure, medicines, and heart transplantation if other treatments fail. NIH: National Heart, Lung, and Blood Institute | [
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What causes Mondini dysplasia ? | What causes Mondini dysplasia? The underlying cause of Mondini dysplasia (MD) in most individuals appears to remain unclear. Some have suggested that retinoids (vitamin A) or other factors a fetus may be exposed to early in pregnancy have contributed to some cases of isolated MD (occurring with no other abnormalities). The potential role of these factors has created increased difficulty in determining the real cause of isolated MD. Mutations in the SLC26A4 gene cause both Pendred syndrome and DFNB4 (non-syndromic hearing loss with inner ear abnormalities), which are both associated with MD. Though mutations in the SLC26A4 gene have also been found in individuals with enlarged vestibular aqueduct (EVA) with and without MD, studies have shown there does not appear to be a relationship between isolated MD and the SLC26A4 gene. Thus hearing impairment in individuals with isolated MD may be caused by factors other than mutations in the SLC26A4 gene. More recently, a type of mutation called a microdeletion (a tiny loss of genetic material on a chromosome that may span several genes) involving the POU3F4 gene on the X chromosome was detected in some individuals with familial MD. In cases where Mondini dysplasia is associated with a specific syndrome, the cause of the syndrome in the affected individual is assumed to be related to the occurrence of MD in those cases. Syndromes that have been associated with MD include Klippel Feil syndrome, Pendred syndrome, DiGeorge syndrome, and some chromosomal trisomies. | [
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What is (are) Emphysema ? | Emphysema is a type of COPD involving damage to the air sacs (alveoli) in the lungs. As a result, your body does not get the oxygen it needs. Emphysema makes it hard to catch your breath. You may also have a chronic cough and have trouble breathing during exercise. The most common cause is cigarette smoking. If you smoke, quitting can help prevent you from getting the disease. If you already have emphysema, not smoking might keep it from getting worse. Treatment is based on whether your symptoms are mild, moderate or severe. Treatments include inhalers, oxygen, medications and sometimes surgery to relieve symptoms and prevent complications. | [
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Do you have information about Nutrition for Seniors | Summary : Food provides the energy and nutrients you need to be healthy. Nutrients include proteins, carbohydrates, fats, vitamins, minerals and water. Studies show that a good diet in your later years reduces your risk of osteoporosis, high blood pressure, heart diseases and certain cancers. As you age, you might need less energy. But you still need just as many of the nutrients in food. To get them - Choose a variety of healthy foods - Avoid empty calories, which are foods with lots of calories but few nutrients, such as chips, cookies, soda and alcohol - Pick foods that are low in cholesterol and fat, especially saturated and trans fats Saturated fats are usually fats that come from animals. Look for trans fat on the labels of processed foods, margarines and shortenings. NIH: National Institute on Aging | [
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How many people are affected by Christianson syndrome ? | Christianson syndrome is a rare condition, although the exact prevalence is unknown. The condition was first described in a South African family and has since been found people in other parts of the world. | [
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How many people are affected by Swyer syndrome ? | Swyer syndrome occurs in approximately 1 in 80,000 people. | [
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What are the symptoms of Crome syndrome ? | What are the signs and symptoms of Crome syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crome syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the renal tubule 90% Aplasia/Hypoplasia of the cerebellum 90% Cataract 90% Cognitive impairment 90% Encephalitis 90% Seizures 90% Nystagmus 50% Acute tubular necrosis - Autosomal recessive inheritance - Cerebellar dysplasia - Congenital cataract - Encephalopathy - Intellectual disability - Short stature - 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. | [
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What is (are) Balance Problems ? | There are many types of balance disorders. Three of the most common are BPPV (benign paroxysmal positional vertigo), labyrinthitis, and Menieres disease. BPPV (benign paroxysmal positional vertigo) is one of the most common balance disorders among older adults. With BPPV, you experience a brief, intense feeling of vertigo that occurs when you change the position of your head. You may also experience BPPV when rolling over to the left or right upon getting out of bed, or when looking up for an object on a high shelf. In BPPV, small calcium particles in the inner ear become displaced, causing dizziness. The reason the particles get displaced is not known, although it may result from an inner ear infection, head injury, or aging. Labyrinthitis is is another type of balance disorder. The labyrinth is an organ of the inner ear that helps you maintain your balance. When the labyrinth becomes infected or swollen, it is typically accompanied by vertigo and imbalance. Upper respiratory infections and other viral infections, and, less commonly, bacterial infections, can lead to labyrinthitis. Mnire's disease is a balance disorder that causes - vertigo - hearing loss that comes and goes - tinnitus, which is a ringing or roaring in the ears - a feeling of fullness in the ear. vertigo hearing loss that comes and goes tinnitus, which is a ringing or roaring in the ears a feeling of fullness in the ear. Mnire's disease can affect adults of any age. The cause is unknown. See a fuller list of balance disorders. | [
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How many people are affected by nonsyndromic hearing loss ? | Between 2 and 3 per 1,000 children in the United States are born with detectable hearing loss in one or both ears. The prevalence of hearing loss increases with age; the condition affects 1 in 8 people in the United States age 12 and older, or about 30 million people. By age 85, more than half of all people experience hearing loss. | [
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What is (are) Brown-Sequard syndrome ? | Brown-Sequard syndrome is a rare neurological condition characterized by a lesion in the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome may be caused by a spinal cord tumor, trauma (such as a puncture wound to the neck or back), obstructed blood vessel, or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis. Treatment and prognosis depends on the underlying cause of the condition. | [
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What is (are) Appendicitis ? | The appendix is a small, tube-like organ attached to the first part of the large intestine. It is located in the lower right part of the abdomen. It has no known function. A blockage inside of the appendix causes appendicitis. The blockage leads to increased pressure, problems with blood flow, and inflammation. If the blockage is not treated, the appendix can burst and spread infection into the abdomen. This causes a condition called peritonitis. The main symptom is pain in the abdomen, often on the right side. It is usually sudden and gets worse over time. Other symptoms may include - Swelling in the abdomen - Loss of appetite - Nausea and vomiting - Constipation or diarrhea - Inability to pass gas - Low fever Not everyone with appendicitis has all these symptoms. Appendicitis is a medical emergency. Treatment almost always involves removing the appendix. Anyone can get appendicitis, but it is more common among people 10 to 30 years old. NIH: National Institute of Diabetes and Digestive and Kidney Diseases | [
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What is (are) Chromosome 8q24.3 deletion syndrome ? | Chromosome 8q24.3 deletion syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on chromosome 8 at a location designated q24.3. The signs and symptoms vary but may include slow growth, developmental delay, characteristic facial features, and skeletal abnormalities. Some affected people may also have coloboma, kidney abnormalities, and heart defects. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. | [
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What is the outlook for Atrial Fibrillation and Stroke ? | AF, which affects as many as 2.2 million Americans, increases an individuals risk of stroke by 4 to 6 times on average. The risk increases with age. In people over 80 years old, AF is the direct cause of 1 in 4 strokes. Treating individuals with warfarin or new blood thinners reduces the rate of stroke for those who have AF by approximately one-half to two- thirds. People with AF can have multiple strokes, including silent strokes (strokes that don't show physical symptoms but show up on a brain scan) that, over time, can cause dementia, so prevention is important. | [
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How to diagnose What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ? | Finding the cause of bladder pain may require several tests.
While tests may aid your doctor in making a diagnosis of IC/PBS, a careful review of your symptoms and a physical exam in the office are generally the most important parts of the evaluation. | [
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What is the outlook for Childhood Craniopharyngioma ? | Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The size of the tumor. - Where the tumor is in the brain. - Whether there are tumor cells left after surgery. - The child's age. - Side effects that may occur months or years after treatment. - Whether the tumor has just been diagnosed or has recurred (come back). | [
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What is (are) Rickets ? | Rickets causes soft, weak bones in children. It usually occurs when they do not get enough vitamin D, which helps growing bones absorb the minerals calcium and phosphorous. It can also happen when calcium or phosphorus levels are too low. Your child might not get enough vitamin D if he or she - Has dark skin - Spends too little time outside - Has on sunscreen all the time when out of doors - Doesn't eat foods containing vitamin D because of lactose intolerance or a strict vegetarian diet - Is breastfed without receiving vitamin D supplements - Can't make or use vitamin D because of a medical disorder such as celiac disease In addition to dietary rickets, children can get an inherited form of the disease. Symptoms include bone pain or tenderness, impaired growth, and deformities of the bones and teeth. Your child's doctor uses lab and imaging tests to make the diagnosis. Treatment is replacing the calcium, phosphorus, or vitamin D that are lacking in the diet. Rickets is rare in the United States. | [
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How to prevent Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ? | Researchers do not know how to prevent microscopic colitis. However, researchers do believe that people who follow the recommendations of their health care provider may be able to prevent relapses of microscopic colitis. | [
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What are the symptoms of Arthrogryposis renal dysfunction cholestasis syndrome ? | What are the signs and symptoms of Arthrogryposis renal dysfunction cholestasis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis renal dysfunction cholestasis syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the renal tubule 90% Abnormality of thrombocytes 90% Cognitive impairment 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Abnormal renal physiology 50% Abnormality of coagulation 50% Abnormality of temperature regulation 50% Aminoaciduria 50% Diabetes insipidus 50% Hepatomegaly 50% Ichthyosis 50% Malabsorption 50% Muscular hypotonia 50% Oligohydramnios 50% Recurrent fractures 50% Rocker bottom foot 50% Skeletal muscle atrophy 50% Talipes 50% Abnormality of the cardiac septa 7.5% Abnormality of the hip bone 7.5% Abnormality of the palate 7.5% Anemia 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cirrhosis 7.5% Convex nasal ridge 7.5% Cutis laxa 7.5% Depressed nasal bridge 7.5% Hypothyroidism 7.5% Kyphosis 7.5% Nephrolithiasis 7.5% Pectus carinatum 7.5% Sensorineural hearing impairment 7.5% Upslanted palpebral fissure 7.5% Abnormal bleeding 5% Lissencephaly 5% Nephrogenic diabetes insipidus 5% Atria septal defect - Autosomal recessive inheritance - Cholestatic liver disease - Conjugated hyperbilirubinemia - Death in infancy - Dehydration - Elevated hepatic transaminases - Failure to thrive - Giant cell hepatitis - Hip dysplasia - Jaundice - Low-set ears - Metabolic acidosis - Microcephaly - Nephrocalcinosis - Nephropathy - Renal tubular acidosis - Right ventricular hypertrophy - Sloping forehead - Talipes calcaneovalgus - Ventricular septal defect - 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. | [
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What are the symptoms of Diabetic Kidney Disease ? | People with diabetic kidney disease do not have symptoms in the early stages. As kidney disease progresses, a person can develop edema, or swelling. Edema happens when the kidneys cannot get rid of the extra fluid and salt in the body. Edema can occur in the legs, feet, or ankles and less often in the hands or face. Once kidney function decreases further, symptoms may include
- appetite loss - nausea - vomiting - drowsiness, or feeling tired - trouble concentrating - sleep problems - increased or decreased urination - generalized itching or numbness - dry skin - headaches - weight loss - darkened skin - muscle cramps - shortness of breath - chest pain | [
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What are the symptoms of Arthrogryposis like disorder ? | What are the signs and symptoms of Arthrogryposis like disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis like disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Limitation of joint mobility 90% Patellar aplasia 90% Talipes 50% Abnormal form of the vertebral bodies 7.5% Abnormality of the clavicle 7.5% Aplasia/Hypoplasia of the radius 7.5% Melanocytic nevus 7.5% Scoliosis 7.5% 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. | [
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What to do for Gastritis ? | Researchers have not found that eating, diet, and nutrition play a major role in causing or preventing gastritis. | [
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What causes Anencephaly ? | What causes anencephaly? The underlying cause of anencephaly is not fully understood. Like other forms of neural tube defects (NTDs), anencephaly is likely caused by the interaction of multiple genes and environmental factors, many of which remain unknown. Variations in many genes may influence the risk of developing anencephaly. The best-studied gene thus far is the MTHFR gene, which gives the body instructions to make a protein used to process the vitamin folate (also called vitamin B9). A deficiency of folate is a known risk factor for NTDs. Other genes involved in folate processing, and the development of the neural tube, may also affect the risk. Researchers have also looked at environmental factors that could contribute to the risk of anencephaly. Folate appears to play a significant role, and studies have shown that taking folic acid (a form of folate), before getting pregnant and very early in pregnancy, significantly reduces the risk to have a baby with a NTD. Other possible maternal risk factors for anencephaly include diabetes mellitus; obesity; exposure to high heat (such as a fever or use of a hot tub or sauna) in early pregnancy; and the use of certain anti-seizure medications during pregnancy. | [
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What are the treatments for Fragile X syndrome ? | How might fragile X syndrome be treated? There is no specific treatment available for fragile X syndrome. Management of this condition is generally supportive and may include: recognizing the need for special education and avoiding excessive stimulation, which may help with behavioral problems early educational intervention and special education that is tailored to specific learning difficulties; small class size, individual attention and avoidance of sudden change is often needed medications for behavioral issues that affect social interaction routine medical management of strabismus, ear infections, reflux, seizures, mitral valve prolapse, and/or high blood pressure. | [
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What are the treatments for achromatopsia ? | These resources address the diagnosis or management of achromatopsia: - Gene Review: Gene Review: Achromatopsia - Genetic Testing Registry: Achromatopsia - MedlinePlus Encyclopedia: Color Vision Test 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 | [
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What are the genetic changes related to pyruvate dehydrogenase deficiency ? | The genes involved in pyruvate dehydrogenase deficiency each provide instructions for making a protein that is a component of a group of proteins called the pyruvate dehydrogenase complex. This complex plays an important role in the pathways that convert the energy from food into a form that cells can use. The pyruvate dehydrogenase complex converts a molecule called pyruvate, which is formed from the breakdown of carbohydrates, into another molecule called acetyl-CoA. This conversion is essential to begin the series of chemical reactions that produce energy for cells. The pyruvate dehydrogenase complex is made up of multiple copies of several enzymes called E1, E2, and E3, each of which performs part of the chemical reaction that converts pyruvate to acetyl-CoA. In addition, other proteins included in the complex ensure its proper function. One of these proteins, E3 binding protein, attaches E3 to the complex and provides the correct structure for the complex to perform its function. Other associated proteins control the activity of the complex: pyruvate dehydrogenase phosphatase turns on (activates) the complex, while pyruvate dehydrogenase kinase turns off (inhibits) the complex. The E1 enzyme, also called pyruvate dehydrogenase, is composed of four parts (subunits): two alpha subunits (called E1 alpha) and two beta subunits (called E1 beta). Mutations in the gene that provides instructions for making E1 alpha, the PDHA1 gene, are the most common cause of pyruvate dehydrogenase deficiency, accounting for approximately 80 percent of cases. These mutations lead to a shortage of E1 alpha protein or result in an abnormal protein that cannot function properly. A decrease in functional E1 alpha leads to reduced activity of the pyruvate dehydrogenase complex. Other components of the pyruvate dehydrogenase complex are also involved in pyruvate dehydrogenase deficiency. Mutations in the genes that provide instructions for E1 beta (the PDHB gene), the E2 enzyme (the DLAT gene), E3 binding protein (the PDHX gene), and pyruvate dehydrogenase phosphatase (the PDP1 gene) have been identified in people with this condition. Although it is unclear how mutations in each of these genes affect the complex, reduced functioning of one component of the complex appears to impair the activity of the whole complex. As with PDHA1 gene mutations, changes in these other genes lead to a reduction of pyruvate dehydrogenase complex activity. With decreased function of this complex, pyruvate builds up and is converted in another chemical reaction to lactic acid. The excess lactic acid causes lactic acidosis in affected individuals. In addition, the production of cellular energy is diminished. The brain, which requires especially large amounts of energy, is severely affected, resulting in the neurological problems associated with pyruvate dehydrogenase deficiency. | [
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Is Orofaciodigital syndrome 2 inherited ? | How is orofaciodigital syndrome type 2 inherited? Orofaciodigital syndrome type 2 is inherited in an autosomal recessive pattern, which means that an individual needs to inherit two mutated (changed) copies of the gene-one from each parent-in order to have the condition. | [
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What is (are) Subcortical band heterotopia ? | Subcortical band heterotopia, also known as double cortex syndrome, is a condition of abnormal brain development that is present from birth. This condition which primarily affects females, occurs when neurons migrate to an area of the brain where they are not supposed to be (heterotopia), and form abnormal areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex (subcortical), creating the appearance of a double cortex. Symptoms associated with subcortical band heterotopia vary from severe intellectual disability and epilepsy to normal intelligence with mild or no epilepsy. Subcortical band heterotopia is most often caused by mutations in the DCX gene. The condition is inherited in an X-linked dominant pattern. Some cases may be caused by a small deletion on chromosome 17 involving the LIS1 gene. Management consists of seizure control. | [
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What are the symptoms of Ascher Syndrome ? | What are the signs and symptoms of Ascher Syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ascher Syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blepharophimosis 90% Goiter 50% Hypothyroidism 50% Ptosis 50% Visual impairment 50% Abnormality of the nose 7.5% Abnormality of the palate 7.5% Deviation of finger 7.5% Hypertelorism 7.5% Abnormality of the eye - Abnormality of the mouth - Autosomal dominant inheritance - Blepharochalasis - 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. | [
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Is spinocerebellar ataxia type 3 inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. As the altered ATXN3 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 ATXN3 gene is inherited from a person's father (paternal inheritance) than when it is inherited from a person's mother (maternal inheritance). In rare cases, individuals have been reported with expanded CAG repeats on both copies of the ATXN3 gene in each cell. These people have more severe signs and symptoms than people with only one mutation, and features of the condition appear in childhood. | [
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What are the genetic changes related to geleophysic dysplasia ? | Geleophysic dysplasia results from mutations in the ADAMTSL2 gene. This gene provides instructions for making a protein whose function is unclear. The protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Studies suggest that the ADAMTSL2 protein may play a role in the microfibrillar network, which is an organized clustering of thread-like filaments (called microfibrils) in the extracellular matrix. This network provides strength and flexibility to tissues throughout the body. Mutations in the ADAMTSL2 protein likely change the protein's 3-dimensional structure. Through a process that is poorly understood, ADAMTSL2 gene mutations alter the microfibrillar network in many different tissues. Impairment of this essential network disrupts the normal functions of cells, which likely contributes to the varied signs and symptoms of geleophysic dysplasia. Researchers are working to determine how mutations in the ADAMTSL2 gene lead to short stature, heart disease, and the other features of this condition. | [
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What is (are) Williams syndrome ? | Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder. Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips. Many affected people have dental problems such as teeth that are small, widely spaced, crooked, or missing. In older children and adults, the face appears longer and more gaunt. A form of cardiovascular disease called supravalvular aortic stenosis (SVAS) occurs frequently in people with Williams syndrome. Supravalvular aortic stenosis is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Other problems with the heart and blood vessels, including high blood pressure (hypertension), have also been reported in people with Williams syndrome. Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin. Affected people may also have increased calcium levels in the blood (hypercalcemia) in infancy, developmental delays, problems with coordination, and short stature. Medical problems involving the eyes and vision, the digestive tract, and the urinary system are also possible. | [
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What are the treatments for Porencephaly ? | Treatment may include physical therapy, medication for seizures, and the placement of a shunt in the brain to remove excess fluid in the brain. | [
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What causes Von Hippel-Lindau disease ? | What causes Von Hippel-Lindau disease? Von Hippel-Lindau (VHL) disease is caused by a mutation in the VHL gene. This gene is a tumor suppressor gene, which helps to control cell growth. Mutations in the VHL gene lead to a lack of regulation of cell growth and survival, allowing cells to grow and divide uncontrollably, forming the tumors that are associated with VHL disease. | [
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What are the treatments for Parasites - Trichinellosis (also known as Trichinosis) ? | Safe and effective prescription drugs are available to treat both Trichinella infection and the symptoms that occur as a result of infection. Treatment should begin as soon as possible; a doctor will make the decision to treat based upon symptoms, exposure to raw or undercooked meat, and laboratory test results.
More on: Resources For Health Professionals: Treatment | [
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What are the treatments for tibial muscular dystrophy ? | These resources address the diagnosis or management of tibial muscular dystrophy: - Gene Review: Gene Review: Udd Distal Myopathy - Genetic Testing Registry: Distal myopathy Markesbery-Griggs type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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what research (or clinical trials) is being done for Childhood Acute Lymphoblastic Leukemia ? | New types of treatment are being tested in clinical trials.
This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Chimeric antigen receptor (CAR) T-cell therapy CAR T-cell therapy is a type of immunotherapy that changes the patient's T cells (a type of immune system cell) so they will attack certain proteins on the surface of cancer cells. T cells are taken from the patient and special receptors are added to their surface in the laboratory. The changed cells are called chimeric antigen receptor (CAR) T cells. The CAR T cells are grown in the laboratory and given to the patient by infusion. The CAR T cells multiply in the patient's blood and attack cancer cells. CAR T-cell therapy is being studied in the treatment of childhood ALL that has relapsed (come back) a second time.
Patients may want to think about taking part in a clinical trial.
For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
Patients can enter clinical trials before, during, or after starting their cancer treatment.
Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. | [
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What causes Congenital diaphragmatic hernia ? | What causes congenital diaphragmatic hernia? Congenital diaphragmatic hernia (CDH) can occur as an isolated finding, as part of a genetic syndrome or chromosome abnormality, or as part of a complex but nonsyndromic set of findings. Currently, about 15%-20% of individuals with CDH have an identifiable cause for their diaphragm defect. These individuals are classified as having syndromic CDH either resulting from a recognized chromosome abnormality or as a single gene disorder. In the remaining 80%-85% of individuals with CDH, the cause is not known. Potential causes in these individuals may include: a currently undetectable chromosomal microdeletion (tiny loss of genetic material) or microduplication (an extra copy of genetic material) a mutation in a major gene important for diaphragm development combined effects of multiple minor genetic mutations or variants (polygenic inheritance) effects of gene-environment interactions (multifactorial inheritance) effects of non-genetic factors (e.g. epigenetic or teratogenic) GeneReviews has more detailed information about causes of CDH; this information can be viewed by clicking here. | [
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How to prevent Age-related Macular Degeneration ? | There is no reason for those diagnosed with early stage AMD to take the AREDS formulation. The study did not find that the formulation helped those with early stage AMD. If you have early stage AMD, a comprehensive dilated eye exam every year can help determine if the disease is progressing. If early stage AMD progresses to the intermediate stage, discuss taking the formulation with your doctor. | [
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] |
What is (are) recombinant 8 syndrome ? | Recombinant 8 syndrome is a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. The characteristic facial features include a wide, square face; a thin upper lip; a downturned mouth; a small chin (micrognathia); wide-set eyes (hypertelorism); and low-set or unusually shaped ears. People with recombinant 8 syndrome may have overgrowth of the gums (gingival hyperplasia) and abnormal tooth development. Males with this condition frequently have undescended testes (cryptorchidism). Some affected individuals have recurrent ear infections (otitis media) or hearing loss. Many children with recombinant 8 syndrome do not survive past early childhood, usually due to complications related to their heart abnormalities. | [
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What is (are) Epilepsy ? | Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke | [
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What are the treatments for PRICKLE1-related progressive myoclonus epilepsy with ataxia ? | These resources address the diagnosis or management of PRICKLE1-related progressive myoclonus epilepsy with ataxia: - Gene Review: Gene Review: PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia - Genetic Testing Registry: Progressive myoclonus epilepsy with ataxia 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 | [
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What is (are) common variable immune deficiency ? | Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas. Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia purpura, which is an abnormal bleeding disorder caused by a decrease in platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritis can occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer. People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood. | [
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Do you have information about Hispanic American Health | Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect Hispanic Americans. | [
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What are the treatments for anhidrotic ectodermal dysplasia with immune deficiency ? | These resources address the diagnosis or management of anhidrotic ectodermal dysplasia with immune deficiency: - Genetic Testing Registry: Anhidrotic ectodermal dysplasia with immune deficiency - Genetic Testing Registry: Hypohidrotic ectodermal dysplasia with immune deficiency - MedlinePlus Encyclopedia: Immunodeficiency Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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What are the treatments for familial dilated cardiomyopathy ? | These resources address the diagnosis or management of familial dilated cardiomyopathy: - Cincinnati Children's Hospital - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Gene Review: Gene Review: LMNA-Related Dilated Cardiomyopathy - MedlinePlus Encyclopedia: Dilated Cardiomyopathy - National Heart, Lung, and Blood Institute: How Is Cardiomyopathy Treated? - Seattle Children's Hospital: Cardiomyopathy Treatment Options - The Sarcomeric Human Cardiomyopathies Registry (ShaRe) 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 | [
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Is Weyers acrofacial dysostosis inherited ? | Weyers acrofacial dysostosis is inherited in an autosomal dominant pattern, which means one copy of the altered EVC or EVC2 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from a parent who has the condition. | [
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What is (are) Gardner-Diamond syndrome ? | Gardner-Diamond syndrome (GDS) is a rare condition characterized by episodes of unexplained, painful bruising that mostly occurs on the arms, legs, and/or face. It is most common in Caucasian women who have mental illness or emotional stress. Symptoms typically include the formation of multiple, small, purple bruises that may be associated with burning, redness and swelling. Most affected people report that the bruising occurs either spontaneously, or some time after trauma or surgery at other sites of the body. The cause of GDS is poorly understood. Management typically involves psychiatric treatment. | [
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What are the symptoms of Pili torti developmental delay neurological abnormalities ? | What are the signs and symptoms of Pili torti developmental delay neurological abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti developmental delay neurological abnormalities. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of hair texture 90% Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Incoordination 90% Joint hypermobility 90% Pili torti 90% Gait disturbance 50% Muscular hypotonia 50% 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. | [
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Is Loeys-Dietz syndrome inherited ? | Loeys-Dietz syndrome is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 75 percent of cases, this disorder results from a new gene mutation and occurs in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent. | [
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What is (are) Chest Injuries and Disorders ? | The chest is the part of the body between your neck and your abdomen. It includes the ribs and breastbone. Inside your chest are several organs, including the heart, lungs, and esophagus. The pleura, a large thin sheet of tissue, lines the inside of the chest cavity. Chest injuries and disorders include - Heart diseases - Lung diseases and collapsed lung - Pleural disorders - Esophagus disorders - Broken ribs - Thoracic aortic aneurysms - Disorders of the mediastinum, the space between the lungs, breastbone, and spine | [
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what research (or clinical trials) is being done for Infantile Spasms ? | The NINDS supports broad and varied programs of research on epilepsy and other seizure disorders. This research is aimed at discovering new ways to prevent, diagnose, and treat these disorders and, ultimately, to find cures for them. Hopefully, more effective and safer treatments, such as neuroprotective agents, will be developed to treat IS and West Syndrome. | [
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What is (are) Childhood Interstitial Lung Disease ? | Childhood interstitial (in-ter-STISH-al) lung disease, or chILD, is a broad term for a group of rare lung diseases that can affect babies, children, and teens. These diseases have some similar symptoms, such as chronic cough, rapid breathing, and shortness of breath.
These diseases also harm the lungs in similar ways. For example, they damage the tissues that surround the lungs' alveoli (al-VEE-uhl-eye; air sacs) and bronchial tubes (airways). Sometimes these diseases directly damage the air sacs and airways.
The various types of chILD can decrease lung function, reduce blood oxygen levels, and disturb the breathing process.
Overview
Researchers have only begun to study, define, and understand chILD in the last decade. Currently, they don't know how many children have chILD. They also don't know how many children have each type of chILD.
Diagnosing chILD and its specific diseases is hard because chILD is rare and complex. Also, chILD is a broad term for a group of diseases with similar symptomsit's not a precise diagnosis.
Interstitial lung disease (ILD) also occurs in adults. However, the cause of ILD in adults may be different than the cause in children. Some types of chILD are similar to the adult forms of the disease. They may even have the same names as the adult forms, such as hypersensitivity pneumonitis (noo-mo-NI-tis), immunodeficiency-associated lung disease, and bronchiolitis (brong-ke-o-LI-tis) obliterans.
However, research shows that the course and outcomes of these diseases often are very different for children than for adults.
Some ILDs only occur in children. They include:
Lung growth abnormalities
Neuroendocrine (noor-o-EN-do-krin) cell hyperplasia (hi-per-PLA-ze-ah) of infancy (NEHI)
Pulmonary interstitial glycogenosis (gli-ko-JEN-eh-sis)
Developmental disorders, such as alveolar (al-VE-o-lar) capillary dysplasia
Outlook
Each form of chILD may differ in its severity and how it's treated. Thus, getting a correct diagnosis is vital for understanding and treating your child's illness.
You may want to consult a pediatric pulmonologist. This is a doctor who specializes in diagnosing and treating children who have lung diseases and conditions. This doctor's training and experience can help him or her diagnose chILD.
The outlook for children who have chILD also depends on the specific type of disease they have. Some diseases are very severe and lead to early death. Others are chronic (long-term) diseases that parents and the child's medical team must work together to manage.
At this time, chILD has no cure. However, some children who have certain diseases, such as NEHI, may slowly improve over time.
Researchers are now starting to learn more about the causes of chILD. They're also trying to find distinct patterns and traits for the various forms of chILD. This information may help doctors better understand these diseases. | [
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] |
What to do for Amyloidosis and Kidney Disease ? | - Amyloidosis is a rare disease that occurs when amyloid proteins are deposited in tissues and organs. - Primary amyloidosis and dialysis-related amyloidosis are the types of amyloidosis that can affect the kidneys. - The most common sign of primary amyloidosis of the kidneys is nephrotic syndrome. - The signs of nephrotic syndrome include - albuminuriaan elevated amount of albumin in the urine. A person with nephrotic syndrome excretes more than half a teaspoon of albumin per day. - hyperlipidemiaa condition in which a persons blood has more-than-normal amounts of fats and cholesterol. - edemaswelling, typically in a persons legs, feet, or ankles and less often in the hands or face. - hypoalbuminemiaa condition in which a persons blood has less-than-normal amounts of albumin. - Other signs and symptoms of primary amyloidosis may include - fatigue, or feeling tired - shortness of breath - low blood pressure - numbness, tingling, or a burning sensation in the hands or feet - weight loss - The symptoms of dialysis-related amyloidosis may include - pain, stiffness, and fluid in the joints. - abnormal, fluid-containing sacs, called cysts, in some bones. - carpal tunnel syndrome, caused by unusual buildup of amyloid proteins in the wrists. The symptoms of carpal tunnel syndrome include numbness or tingling, sometimes associated with muscle weakness, in the fingers and hands. - A health care provider diagnoses primary amyloidosis of the kidneys with - a medical and family history - a physical exam - urinalysis - blood tests - a kidney biopsy - A health care provider diagnoses dialysis-related amyloidosis with - urinalysis - blood tests - imaging tests - A health care provider treats primary amyloidosis of the kidneys with the following: - medication therapy, including chemotherapy - a stem cell transplant - treating other conditions - A health care provider treats dialysis-related amyloidosis with - medication therapy - newer, more effective hemodialysis filters - surgery - a kidney transplant | [
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What is (are) Tabes Dorsalis ? | Tabes dorsalis is a slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The degenerating nerves are in the dorsal columns of the spinal cord (the portion closest to the back of the body) and carry information that help maintain a person's sense of position. Tabes dorsalis is the result of an untreated syphilis infection. Symptoms may not appear for some decades after the initial infection and include weakness, diminished reflexes, unsteady gait, progressive degeneration of the joints, loss of coordination, episodes of intense pain and disturbed sensation, personality changes, dementia, deafness, visual impairment, and impaired response to light. The disease is more frequent in males than in females. Onset is commonly during mid-life. The incidence of tabes dorsalis is rising, in part due to co-associated HIV infection. | [
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What is (are) lung cancer ? | Lung cancer is a disease in which certain cells in the lungs become abnormal and multiply uncontrollably to form a tumor. Lung cancer may or may not cause signs or symptoms in its early stages. Some people with lung cancer have chest pain, frequent coughing, breathing problems, trouble swallowing or speaking, blood in the mucus, loss of appetite and weight loss, fatigue, or swelling in the face or neck. Lung cancer occurs most often in adults in their sixties or seventies. Most people who develop lung cancer have a history of long-term tobacco smoking; however, the condition can occur in people who have never smoked. Lung cancer is generally divided into two types, small cell lung cancer and non-small cell lung cancer, based on the size of the affected cells when viewed under a microscope. Non-small cell lung cancer accounts for 85 percent of lung cancer, while small cell lung cancer accounts for the remaining 15 percent. Small cell lung cancer grows quickly and often spreads to other tissues (metastasizes), most commonly to the adrenal glands (small hormone-producing glands located on top of each kidney), liver, brain, and bones. In more than half of cases, the small cell lung cancer has spread beyond the lung at the time of diagnosis. After diagnosis, most people with small cell lung cancer survive for about one year; less than seven percent survive 5 years. Non-small cell lung cancer is divided into three main subtypes: adenocarcinoma, squamous cell carcinoma, and large cell lung carcinoma. Adenocarcinoma arises from the cells that line the small air sacs (alveoli) located throughout the lungs. Squamous cell carcinoma arises from the squamous cells that line the passages leading from the windpipe to the lungs (bronchi). Large cell carcinoma describes non-small cell lung cancers that do not appear to be adenocarcinomas or squamous cell carcinomas. As the name suggests, the tumor cells are large when viewed under a microscope. The 5-year survival rate for people with non-small cell lung cancer is usually between 11 and 17 percent; it can be lower or higher depending on the subtype and stage of the cancer. | [
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What are the treatments for Dry Eye ? | Self Care - Try over-the-counter remedies such as artificial tears, gels, gel inserts, and ointments. They offer temporary relief and can provide an important replacement of naturally produced tears. - Avoid remedies containing preservatives if you need to apply them more than four times a day or preparations with chemicals that cause blood vessels to constrict. - Wearing glasses or sunglasses that fit close to the face (wrap around shades) or that have side shields can help slow tear evaporation from the eye surfaces. - Indoors, an air cleaner to filter dust and other particles can help your eyes feel more comfortable. A humidifier also may help by adding moisture to the air. - Avoid dry conditions. - Allow your eyes to rest when doing activities that require you to use your eyes for long periods of time. Use lubricating eye drops while performing these tasks. Try over-the-counter remedies such as artificial tears, gels, gel inserts, and ointments. They offer temporary relief and can provide an important replacement of naturally produced tears. Avoid remedies containing preservatives if you need to apply them more than four times a day or preparations with chemicals that cause blood vessels to constrict. Wearing glasses or sunglasses that fit close to the face (wrap around shades) or that have side shields can help slow tear evaporation from the eye surfaces. Indoors, an air cleaner to filter dust and other particles can help your eyes feel more comfortable. A humidifier also may help by adding moisture to the air. Avoid dry conditions. Allow your eyes to rest when doing activities that require you to use your eyes for long periods of time. Use lubricating eye drops while performing these tasks. If symptoms of dry eye persist, consult an eye care professional to get an accurate diagnosis of the condition and begin treatment to avoid permanent damage. Goal of Treatment Dry eye can be a temporary or ongoing condition, so treatments can be short term or may extend over long periods of time. The goal of treatment is to keep the eyes moist and relieve symptoms. (This short video discusses causes, symptoms, and treatments for dry eye.) Talk to your doctor to rule out other conditions that can cause dry eye, such as Sjgren's syndrome. You may need to treat these conditions. If dry eye results from taking a medication, your doctor may recommend switching to a medication that does not cause dry eye as a side effect. Types of Treatments - Medication. Cyclosporine, an anti-inflammatory medication, is a prescription eye drop available to treat certain kinds of dry eye. In people with certain kinds of dry eye, it may decrease damage to the cornea, increase basic tear production, and reduce symptoms of dry eye. It may take three to six months of twice-a-day dosages for the medication to work. Some patients with severe dry eye may need to use corticosteroid eye drops that decrease inflammation. - Nutritional Supplements. In some patients with dry eye, supplements of omega-3 fatty acids (especially ones called DHA and EPA) may decrease symptoms of irritation. Talk with your eye care professional or your primary medical doctor about whether this is an option for you. - Lenses. If dry eye is a result of wearing contact lens for too long, your eye care practitioner may recommend another type of lens or reducing the number of hours you wear your lenses. In the case of severe dry eye, your eye care professional may advise you not to wear contact lenses at all. - Punctal plugs. Another option to increase the available tears on the eye surface is to plug the small circular openings at the inner corners of the eyelids where tears drain from the eye into the nose. Lacrimal plugs, also called punctal plugs, can be inserted painlessly by an eye care professional. These plugs are made of silicone or collagen. These plugs can be temporary or permanent. - Punctal cautery. In some cases, a simple surgery called punctal cautery is recommended to permanently close the drainage holes. The procedure works similarly to installing punctal plugs, but cannot be reversed. Medication. Cyclosporine, an anti-inflammatory medication, is a prescription eye drop available to treat certain kinds of dry eye. In people with certain kinds of dry eye, it may decrease damage to the cornea, increase basic tear production, and reduce symptoms of dry eye. It may take three to six months of twice-a-day dosages for the medication to work. Some patients with severe dry eye may need to use corticosteroid eye drops that decrease inflammation. Nutritional Supplements. In some patients with dry eye, supplements of omega-3 fatty acids (especially ones called DHA and EPA) may decrease symptoms of irritation. Talk with your eye care professional or your primary medical doctor about whether this is an option for you. Lenses. If dry eye is a result of wearing contact lens for too long, your eye care practitioner may recommend another type of lens or reducing the number of hours you wear your lenses. In the case of severe dry eye, your eye care professional may advise you not to wear contact lenses at all. Punctal plugs. Another option to increase the available tears on the eye surface is to plug the small circular openings at the inner corners of the eyelids where tears drain from the eye into the nose. Lacrimal plugs, also called punctal plugs, can be inserted painlessly by an eye care professional. These plugs are made of silicone or collagen. These plugs can be temporary or permanent. Punctal cautery. In some cases, a simple surgery called punctal cautery is recommended to permanently close the drainage holes. The procedure works similarly to installing punctal plugs, but cannot be reversed. | [
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] |