[System] The assistant is a factual and informative medical chatbot.

[User] What is (are) Dentures ?

[Assistant] Dentures are false teeth made to replace teeth you have lost. Dentures can be complete or partial. Complete dentures cover your entire upper or lower jaw. Partials replace one or a few teeth.    Advances in dentistry have made many improvements in dentures. They are more natural looking and comfortable than they used to be. But they still may feel strange at first. In the beginning, your dentist may want to see you often to make sure the dentures fit. Over time, your mouth will change and your dentures may need to be adjusted or replaced. Be sure to let your dentist handle these adjustments.    Speaking and eating may feel different with dentures. Be careful when wearing dentures because they may make it harder for you to feel hot foods and liquids. Also, you may not notice biting on a bone from your food.    NIH: National Institute on Aging


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[User] What is the outlook for Gestational Trophoblastic Disease ?

[Assistant] Certain factors affect prognosis (chance of recovery) and treatment options. Gestational trophoblastic disease usually can be cured. Treatment and prognosis depend on the following:         - The type of GTD.    - Whether the tumor has spread to the uterus, lymph nodes, or distant parts of the body.    - The number of tumors and where they are in the body.    - The size of the largest tumor.    - The level of -hCG in the blood.    - How soon the tumor was diagnosed after the pregnancy began.    - Whether GTD occurred after a molar pregnancy, miscarriage, or normal pregnancy.    - Previous treatment for gestational trophoblastic neoplasia.        Treatment options also depend on whether the woman wishes to become pregnant in the future.


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[User] What are the treatments for Arachnoiditis ?

[Assistant] Arachnoiditis remains a difficult condition to treat, and long-term outcomes are unpredictable. Most treatments for arachnoiditis are focused on pain relief and the improvement of symptoms that impair daily function. A regimen of pain management, physiotheraphy, exercise, and psychotheraphy is often recommended. Surgical intervention is controversial since the outcomes are generally poor and provide only short-term relief.


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[User] What are the treatments for campomelic dysplasia ?

[Assistant] These resources address the diagnosis or management of campomelic dysplasia:  - European Skeletal Dysplasia Network  - Gene Review: Gene Review: Campomelic Dysplasia  - Genetic Testing Registry: Camptomelic dysplasia  - MedlinePlus Encyclopedia: Ambiguous Genitalia  - MedlinePlus Encyclopedia: Pierre-Robin Syndrome  - The Hospital for Sick Children   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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[User] What is (are) pyruvate dehydrogenase deficiency ?

[Assistant] Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.


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[User] Is Usher syndrome, type 1E inherited ?

[Assistant] How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.


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[User] What are the treatments for mannose-binding lectin deficiency ?

[Assistant] These resources address the diagnosis or management of mannose-binding lectin deficiency:  - Genetic Testing Registry: Mannose-binding protein 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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[User] What is the outlook for Developmental Dyspraxia ?

[Assistant] Developmental dyspraxia is a lifelong disorder. Many individuals are able to compensate for their disabilities through occupational and speech therapy.


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[User] What are the symptoms of Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ?

[Assistant] What are the signs and symptoms of Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. 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) Cataract 5% Adult onset - Areflexia - Atrophy/Degeneration involving the spinal cord - Autosomal recessive inheritance - Cognitive impairment - Decreased activity of cytochrome C oxidase in muscle tissue - Depression - Dilated cardiomyopathy - Dysarthria - Gastroparesis - Hyporeflexia - Impaired distal proprioception - Impaired distal vibration sensation - Increased serum lactate - Increased variability in muscle fiber diameter - Intestinal pseudo-obstruction - Migraine - Mildly elevated creatine phosphokinase - Multiple mitochondrial DNA deletions - Muscle fiber necrosis - Myoclonus - Nystagmus - Phenotypic variability - Positive Romberg sign - Progressive external ophthalmoplegia - Progressive gait ataxia - Proximal muscle weakness - Ptosis - Ragged-red muscle fibers - Seizures - Sensorineural hearing impairment - Sensory ataxic neuropathy - Sensory axonal neuropathy - Subsarcolemmal accumulations of abnormally shaped mitochondria - Vestibular dysfunction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for juvenile idiopathic arthritis ?

[Assistant] These resources address the diagnosis or management of juvenile idiopathic arthritis:  - American College of Rheumatology: Arthritis in Children  - Genetic Testing Registry: Rheumatoid arthritis, systemic juvenile   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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[User] What are the symptoms of Brachydactyly type A1 ?

[Assistant] What are the signs and symptoms of Brachydactyly type A1? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the thumb 90% Brachydactyly syndrome 90% Short hallux 90% Short stature 90% Cone-shaped epiphysis 50% Abnormality of the metacarpal bones 7.5% Abnormality of the ulna 7.5% Clinodactyly of the 5th finger 7.5% Scoliosis 7.5% Symphalangism affecting the phalanges of the hand 7.5% Talipes 7.5% Absent distal interphalangeal creases - Autosomal dominant inheritance - Broad metacarpal epiphyses - Broad palm - Distal symphalangism (hands) - Flattened metatarsal heads - Heterogeneous - Proportionate shortening of all digits - Radial deviation of the 2nd finger - Radial deviation of the 3rd finger - Radial deviation of the 4th finger - Short distal phalanx of finger - Short metacarpal - Short palm - Short proximal phalanx of hallux - Short proximal phalanx of thumb - Slender metacarpals - Thin proximal phalanges with broad epiphyses of the hand - 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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[User] What are the treatments for Myhre syndrome ?

[Assistant] These resources address the diagnosis or management of Myhre syndrome:  - Centers for Disease Control and Prevention: Types of Hearing Loss  - Genetic Testing Registry: Myhre syndrome  - National Institute on Deafness and Other Communication Disorders: Communication Considerations for Parents of Deaf and Hard-of-Hearing Children   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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[User] What are the symptoms of Lujo Hemorrhagic Fever (LUHF) ?

[Assistant]
The symptoms of Lujo hemorrhagic fever, as described in the five patients in the original cluster outbreak, resemble those of severe Lassa Fever. After an incubation period of 7 to 13 days, the clinical course started by a non-specific febrile illness accompanied by headache and muscle pain.

The disease increases in severity, with:

 - a morbilliform rash of the face and trunk
 - face and neck swelling
 - pharyngitis (sore throat)
 - diarrhea

Bleeding was not a prominent feature during the illness.

In the fatal cases (4/5 patients), a transient improvement was followed by:

 - rapid deterioration with respiratory distress
 - neurological signs and circulatory collapse

Death occurred 10 to 13 days after onset.

Low blood platelets, low white blood cell count (at the onset, rising later on) and elevated liver function values were present in all patients.

Since Arenaviruses may enter the fetus through infection of the mother, and anectodal evidence suggests that infected pregnant women may suffer miscarriages, it is reasonable to assume that both infection of the fetus and miscarriage may be associated with Lujo infection in the mother.


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[User] What are the genetic changes related to Winchester syndrome ?

[Assistant] Winchester syndrome is caused by mutations in the MMP14 gene (also known as MT1-MMP). This gene provides instructions for making a protein called matrix metallopeptidase 14, which is found on the surface of cells. Matrix metallopeptidase 14 normally helps modify and break down various components of the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. These changes influence many cell activities and functions, including promoting cell growth and stimulating cell movement (migration). Matrix metallopeptidase 14 also turns on (activates) a protein called matrix metallopeptidase 2. The activity of matrix metallopeptidase 2 appears to be important for a variety of body functions, including bone remodeling, which is a normal process in which old bone is broken down and new bone is created to replace it.  Mutations in the MMP14 gene alter matrix metallopeptidase 14 so that less of the enzyme is able to reach the cell surface. As a result, not enough of the enzyme is available to break down components of the extracellular matrix and activate matrix metallopeptidase 2. It is unclear how a shortage of this enzyme leads to the signs and symptoms of Winchester syndrome. It is possible that a loss of matrix metallopeptidase 2 activation somehow disrupts the balance of new bone creation and the breakdown of existing bone during bone remodeling, causing a progressive loss of bone tissue. How a reduced amount of matrix metallopeptidase 14 leads to the other features of Winchester syndrome is unknown.


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[User] What are the treatments for Microcephaly ?

[Assistant] There is no treatment for microcephaly that can return a childs head to a normal size or shape. Treatment focuses on ways to decrease the impact of the associated deformities and neurological disabilities. Children with microcephaly and developmental delays are usually evaluated by a pediatric neurologist and followed by a medical management team. Early childhood intervention programs that involve physical, speech, and occupational therapists help to maximize abilities and minimize dysfunction. Medications are often used to control seizures, hyperactivity, and neuromuscular symptoms. Genetic counseling may help families understand the risk for microcephaly in subsequent pregnancies.


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[User] How many people are affected by surfactant dysfunction ?

[Assistant] One type of surfactant dysfunction, SP-B deficiency, is estimated to occur in 1 in 1 million newborns worldwide. The prevalence of surfactant dysfunction due to other causes is unknown.


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[User] What is (are) Meckel syndrome ?

[Assistant] Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver.  Other signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia.  Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.


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[User] What are the symptoms of Complete androgen insensitivity syndrome ?

[Assistant] What are the signs and symptoms of Complete androgen insensitivity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Complete androgen insensitivity syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Cryptorchidism 90% Decreased fertility 90% Male pseudohermaphroditism 90% Primary amenorrhea 90% Tall stature 90% Hernia of the abdominal wall 50% Reduced bone mineral density 50% Flexion contracture 7.5% Gynecomastia 7.5% Testicular neoplasm 7.5% Tremor 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) What I need to know about Diarrhea ?

[Assistant]
Diarrhea is frequent, loose, and watery bowel movements. Bowel movements, also called stools, are body wastes passed through the rectum and anus. Stools contain what is left after your digestive system absorbs nutrients and fluids from what you eat and drink. If your body does not absorb the fluids, or if your digestive system produces extra fluids, stools will be loose and watery. Loose stools contain more water, salts, and minerals and weigh more than solid stools.

Diarrhea that lasts a short time is called acute diarrhea. Acute diarrhea is a common problem and usually lasts only 1 or 2 days, but it may last longer. Diarrhea that lasts for at least 4 weeks is called chronic diarrhea. Chronic diarrhea symptoms may be continual or they may come and go.

*See the Pronunciation Guide for tips on how to say the words in bold type.


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[User] How to diagnose Metabolic Syndrome ?

[Assistant]
Your doctor will diagnose metabolic syndrome based on the results of a physical exam and blood tests. You must have at least three of the five metabolic risk factors to be diagnosed with metabolic syndrome.

Metabolic Risk Factors

A Large Waistline

Having a large waistline means that you carry excess weight around your waist (abdominal obesity). This is also called having an "apple-shaped" figure. Your doctor will measure your waist to find out whether you have a large waistline.

A waist measurement of 35 inches or more for women or 40 inches or more for men is a metabolic risk factor. A large waistline means you're at increased risk for heart disease and other health problems.

A High Triglyceride Level

Triglycerides are a type of fat found in the blood. A triglyceride level of 150 mg/dL or higher (or being on medicine to treat high triglycerides) is a metabolic risk factor. (The mg/dL is milligrams per deciliterthe units used to measure triglycerides, cholesterol, and blood sugar.)

A Low HDL Cholesterol Level

HDL cholesterol sometimes is called "good" cholesterol. This is because it helps remove cholesterol from your arteries.

An HDL cholesterol level of less than 50 mg/dL for women and less than 40 mg/dL for men (or being on medicine to treat low HDL cholesterol) is a metabolic risk factor.

High Blood Pressure

A blood pressure of 130/85 mmHg or higher (or being on medicine to treat high blood pressure) is a metabolic risk factor. (The mmHg is millimeters of mercurythe units used to measure blood pressure.)

If only one of your two blood pressure numbers is high, you're still at risk for metabolic syndrome.

High Fasting Blood Sugar

A normal fasting blood sugar level is less than 100 mg/dL. A fasting blood sugar level between 100125 mg/dL is considered prediabetes. A fasting blood sugar level of 126 mg/dL or higher is considered diabetes.

A fasting blood sugar level of 100 mg/dL or higher (or being on medicine to treat high blood sugar) is a metabolic risk factor.

About 85 percent of people who have type 2 diabetesthe most common type of diabetesalso have metabolic syndrome. These people have a much higher risk for heart disease than the 15 percent of people who have type 2 diabetes without metabolic syndrome.


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[User] What is (are) familial dysautonomia ?

[Assistant] Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III.  Problems related to this disorder first appear during infancy. Early signs and symptoms include poor muscle tone (hypotonia), feeding difficulties, poor growth, lack of tears, frequent lung infections, and difficulty maintaining body temperature. Older infants and young children with familial dysautonomia may hold their breath for prolonged periods of time, which may cause a bluish appearance of the skin or lips (cyanosis) or fainting. This breath-holding behavior usually stops by age 6. Developmental milestones, such as walking and speech, are usually delayed, although some affected individuals show no signs of developmental delay.  Additional signs and symptoms in school-age children include bed wetting, episodes of vomiting, reduced sensitivity to temperature changes and pain, poor balance, abnormal curvature of the spine (scoliosis), poor bone quality and increased risk of bone fractures, and kidney and heart problems. Affected individuals also have poor regulation of blood pressure. They may experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. They can also have episodes of high blood pressure when nervous or excited, or during vomiting incidents. About one-third of children with familial dysautonomia have learning disabilities, such as a short attention span, that require special education classes. By adulthood, affected individuals often have increasing difficulties with balance and walking unaided. Other problems that may appear in adolescence or early adulthood include lung damage due to repeated infections, impaired kidney function, and worsening vision due to the shrinking size (atrophy) of optic nerves, which carry information from the eyes to the brain.


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[User] Is myoclonic epilepsy myopathy sensory ataxia inherited ?

[Assistant] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


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[User] What is (are) Progressive pseudorheumatoid arthropathy of childhood ?

[Assistant] Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a disorder of bone and cartilage that affects many joints. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. PPAC may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis. PPAC is caused by a mutation in the WISP3 gene and is inherited in an autosomal recessive pattern. People with PPAC typically need joint replacement surgery at an early age. Other forms of spondyloepiphyseal dysplasia tarda include: X-linked spondyloepiphyseal dysplasia tarda  Autosomal dominant spondyloepiphyseal dysplasia tarda  Spondyloepiphyseal dysplasia tarda Toledo type


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[User] What are the genetic changes related to Rothmund-Thomson syndrome ?

[Assistant] Mutations in the RECQL4 gene cause about two-thirds of all cases of Rothmund-Thomson syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division, and for repairing damaged DNA. The RECQL4 protein helps stabilize genetic information in the body's cells and plays a role in replicating and repairing DNA.  RECQL4 mutations lead to the production of an abnormally short, nonfunctional version of the RECQL4 protein or prevent cells from making any of this protein. A shortage of the RECQL4 protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. It is unclear how a loss of this protein's activity leads to the specific features of Rothmund-Thomson syndrome.  In about one-third of individuals with Rothmund-Thomson syndrome, no mutation in the RECQL4 gene has been found. The cause of the condition in these individuals is unknown; however, researchers suspect that these cases may result from mutations in a gene related to the RECQL4 gene.  In some cases, chromosomal abnormalities have been identified in people with Rothmund-Thomson syndrome. These abnormalities include extra or missing genetic material, usually from chromosome 7 or chromosome 8, in some of an affected person's cells. Researchers believe that these chromosomal changes arise because of the overall instability of an affected person's genetic information; they do not cause the disorder.


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[User] What is (are) breast cancer ?

[Assistant] Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men. In both women and men, the most common form of breast cancer begins in cells lining the milk ducts (ductal cancer). In women, cancer can also develop in the glands that produce milk (lobular cancer). Most men have little or no lobular tissue, so lobular cancer in men is very rare.  In its early stages, breast cancer usually does not cause pain and may exhibit no noticeable symptoms. As the cancer progresses, signs and symptoms can include a lump or thickening in or near the breast; a change in the size or shape of the breast; nipple discharge, tenderness, or retraction (turning inward); and skin irritation, dimpling, or scaliness. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a person definitely has breast cancer.  In some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If breast cancer spreads, cancerous cells most often appear in the bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.  A small percentage of all breast cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary breast cancers tend to develop earlier in life than noninherited (sporadic) cases, and new (primary) tumors are more likely to develop in both breasts.


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[User] What is (are) Emery-Dreifuss muscular dystrophy ?

[Assistant] Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. Among the earliest features of this disorder are joint deformities called contractures, which restrict the movement of certain joints. Contractures become noticeable in early childhood and most often involve the elbows, ankles, and neck. Most affected individuals also experience slowly progressive muscle weakness and wasting, beginning in muscles of the upper arms and lower legs and progressing to muscles in the shoulders and hips.  Almost all people with Emery-Dreifuss muscular dystrophy have heart problems by adulthood. In many cases, these heart problems stem from abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects) and abnormal heart rhythms (arrhythmias). If untreated, these abnormalities can lead to an unusually slow heartbeat (bradycardia), fainting (syncope), and an increased risk of stroke and sudden death.  The types of Emery-Dreifuss muscular dystrophy are distinguished by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive. Although the three types have similar signs and symptoms, researchers believe that the features of autosomal dominant Emery-Dreifuss muscular dystrophy are more variable than the other types. A small percentage of people with the autosomal dominant form experience heart problems without any weakness or wasting of skeletal muscles.


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[User] What is the outlook for Cerebral Arteriosclerosis ?

[Assistant] Cerebral arteriosclerosis can lead to life threatening health events such as ischemic or hemorrhagic strokes. People who survive stroke may have long-term neurological and motor impairments.


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[User] Is Huntington disease-like syndrome inherited ?

[Assistant] HDL1, HDL2, and HDL4 are 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 inherits the mutation from one affected parent.  As the mutation responsible for HDL2 or HDL4 is passed down from one generation to the next, the length of the repeated DNA segment may increase. A longer repeat segment is often associated with more severe signs and symptoms that appear earlier in life. This phenomenon is known as anticipation.  HDL3 is probably inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition.


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[User] How to prevent Parasites - Fascioliasis (Fasciola Infection) ?

[Assistant]
No vaccine is available to protect people against Fasciola infection.

In some areas of the world where fascioliasis is found (endemic), special control programs are in place or are planned. The types of control measures depend on the setting (such as epidemiologic, ecologic, and cultural factors). Strict control of the growth and sale of watercress and other edible water plants is important.

Individual people can protect themselves by not eating raw watercress and other water plants, especially from endemic grazing areas. As always, travelers to areas with poor sanitation should avoid food and water that might be contaminated (tainted). Vegetables grown in fields that might have been irrigated with polluted water should be thoroughly cooked, as should viscera from potentially infected animals.


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[User] Is African iron overload inherited ?

[Assistant] African iron overload seems to run in families, and high iron in a family's diet seems to be the major contributor to development of the condition. There also may be a genetic contribution, but the inheritance pattern is unknown. People with a specific variation in the SLC40A1 gene may inherit an increased risk of this condition, but not the condition itself. Not all people with this condition have the variation in the gene, and not all people with the variation will develop the disorder.


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[User] What is (are) Problems with Smell ?

[Assistant] Our sense of smell helps us enjoy life. We delight in the aromas of our favorite foods or the fragrance of flowers. Our sense of smell also is a warning system, alerting us to danger signals such as a gas leak, spoiled food, or a fire. Any loss in our sense of smell can have a negative effect on our quality of life. It also can be a sign of more serious health problems. Aging and Smell Loss Problems with smell increase as people get older, and they are more common in men than women. In one study, nearly one-quarter of men ages 6069 had a smell disorder, while about 11 percent of women in that age range reported a problem. Many older people are not even aware that they have a problem with their sense of smell because the changes occur gradually over several years. They may not even notice that they are experiencing a loss of smell until there is an incident in which they don't detect food that has spoiled or the presence of dangerous smoke. How Our Sense of Smell Works The sense of smell, or olfaction, is part of our chemical sensing system, along with the sense of taste. Normal smell occurs when odors around us, like the fragrance of flowers or the smell of baking bread, stimulate the specialized sensory cells, called olfactory sensory cells. Olfactory sensory cells are located in a small patch of tissue high inside the nose. Odors reach the olfactory sensory cells in two pathways. The first pathway is by inhaling, or sniffing, through your nose. When people think about smell, they generally think of this pathway. The second pathway is less familiar. It is a channel that connects the roof of the throat region to the nose. When we chew our food, aromas are released that access olfactory sensory cells through this channel. If you are congested due to a head cold or sinus infection, this channel is blocked, which temporarily affects your ability to appreciate the flavors of food. Types of Smell Disorders People who experience smell disorders either have a decrease in their ability to smell or changes in the way they perceive odors. Total smell loss is relatively rare, but a decrease in the sense of smell occurs more often, especially in older adults. A decreased sense of smell may be temporary and treatable with medication. There are several types of smell disorders depending on how the sense of smell is affected. -  Some people have hyposmia, which occurs when their ability to detect certain odors is reduced.   - Other people can't detect odor at all, which is called anosmia.   - Sometimes a loss of smell can be accompanied by a change in the perception of odors. This type of smell disorder is called dysosmia. Familiar odors may become distorted, or an odor that usually smells pleasant instead smells foul.   - Still others may perceive a smell that isn't present at all, which is called phantosmia.   - Smell loss due to aging is called presbyosmia.  Some people have hyposmia, which occurs when their ability to detect certain odors is reduced. Other people can't detect odor at all, which is called anosmia.  Sometimes a loss of smell can be accompanied by a change in the perception of odors. This type of smell disorder is called dysosmia. Familiar odors may become distorted, or an odor that usually smells pleasant instead smells foul. Still others may perceive a smell that isn't present at all, which is called phantosmia.  Smell loss due to aging is called presbyosmia. Smell Loss May Signal Other Conditions Problems with our chemical senses may be a sign of other serious health conditions. A smell disorder can be an early sign of Parkinsons disease, Alzheimers disease, or multiple sclerosis. It can also be related to other medical conditions, such as obesity, diabetes, hypertension, and malnutrition. Getting a diagnosis early will help an individual deal better with the underlying condition or disease. Smell and Taste Smell and taste are closely linked in the brain, but are actually distinct sensory systems. True tastes are detected by taste buds on the tongue and the roof of the mouth, as well as in the throat region, and are limited to sweet, salty, sour, bitter, savory and perhaps a few other sensations. The loss of smell is much more common than the loss of taste, and many people mistakenly believe they have a problem with taste, when they are really experiencing a problem with their sense of smell. A loss in taste or smell is diagnosed by your doctor using special taste and smell tests. Smell Loss and Eating Habits When smell is impaired, people usually have problems appreciating the subtle flavors of food, and say that food is less enjoyable. Some people change their eating habits. Some may eat too little and lose weight while others may eat too much and gain weight. Either way, there may be a long-term impact on one's overall health. Loss of smell may also cause us to eat too much sugar or salt to make our food taste better. This can be a problem for people with certain medical conditions, such as diabetes or high blood pressure. In severe cases, loss of smell can lead to depression. Hazards of Smell Loss Research shows that people with a total or partial loss of smell are almost twice as likely as people with normal smell to have certain kinds of accidents. The most common types of accidents in order of frequency involve - cooking   - eating or drinking spoiled foods or toxic substances   - failing to detect gas leaks or fires  cooking eating or drinking spoiled foods or toxic substances failing to detect gas leaks or fires If you think you have a problem with your sense of smell, see your doctor.


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[User] What are the genetic changes related to phosphoglycerate kinase deficiency ?

[Assistant] Phosphoglycerate kinase deficiency is caused by mutations in the PGK1 gene. This gene provides instructions for making an enzyme called phosphoglycerate kinase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy.  Mutations in the PGK1 gene reduce the activity of phosphoglycerate kinase, which disrupts energy production and leads to cell damage or cell death. It is unclear why this abnormality preferentially affects red blood cells and brain cells in some people and muscle cells in others. Researchers speculate that different PGK1 gene mutations may have varying effects on the activity of phosphoglycerate kinase in different types of cells.


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[User] What are the symptoms of Congenital Heart Defects ?

[Assistant]
Many congenital heart defects cause few or no signs and symptoms. A doctor may not even detect signs of a heart defect during a physical exam.

Some heart defects do cause signs and symptoms. They depend on the number, type, and severity of the defects. Severe defects can cause signs and symptoms, usually in newborns. These signs and symptoms may include:

Rapid breathing

Cyanosis (a bluish tint to the skin, lips, and fingernails)

Fatigue (tiredness)

Poor blood circulation

Congenital heart defects don't cause chest pain or other painful symptoms.

Heart defects can cause heart murmurs (extra or unusual sounds heard during a heartbeat). Doctors can hear heart murmurs using a stethoscope. However, not all murmurs are signs of congenital heart defects. Many healthy children have heart murmurs.

Normal growth and development depend on a normal workload for the heart and normal flow of oxygen-rich blood to all parts of the body. Babies who have congenital heart defects may have cyanosis and tire easily while feeding. As a result, they may not gain weight or grow as they should.

Older children who have congenital heart defects may get tired easily or short of breath during physical activity.

Many types of congenital heart defects cause the heart to work harder than it should. With severe defects, this can lead to heart failure. Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. Symptoms of heart failure include:

Shortness of breath or trouble breathing

Fatigue with physical activity

A buildup of blood and fluid in the lungs

Swelling in the ankles, feet, legs, abdomen, and veins in the neck


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[User] What are the treatments for achondrogenesis ?

[Assistant] These resources address the diagnosis or management of achondrogenesis:  - Gene Review: Gene Review: Achondrogenesis Type 1B  - Genetic Testing Registry: Achondrogenesis type 2  - Genetic Testing Registry: Achondrogenesis, type IA  - Genetic Testing Registry: Achondrogenesis, type IB  - MedlinePlus Encyclopedia: Achondrogenesis   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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[User] What are the treatments for Fukuyama congenital muscular dystrophy ?

[Assistant] These resources address the diagnosis or management of Fukuyama congenital muscular dystrophy:  - Gene Review: Gene Review: Congenital Muscular Dystrophy Overview  - Gene Review: Gene Review: Fukuyama Congenital Muscular Dystrophy  - Genetic Testing Registry: Fukuyama congenital muscular dystrophy  - MedlinePlus Encyclopedia: Aspiration Pneumonia  - MedlinePlus Encyclopedia: Muscular Dystrophy   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What is (are) Trichomoniasis ?

[Assistant] Trichomoniasis is a sexually transmitted disease caused by a parasite. You get it through sexual intercourse with an infected partner. Many people do not have any symptoms. If you do get symptoms, they usually happen within 5 to 28 days after being infected.    Symptoms in women include       - Yellow-green or gray discharge from the vagina    - Discomfort during sex    - Vaginal odor    - Painful urination    - Itching in or near the vagina       Most men do not have symptoms. If they do, they may have a whitish discharge from the penis and painful or difficult urination and ejaculation.    Lab tests can tell if you have the infection. Treatment is with antibiotics. If you are infected, you and your partner must be treated. Correct usage of latex condoms greatly reduces, but does not eliminate, the risk of catching or spreading trichomoniasis.    NIH: National Institute of Allergy and Infectious Diseases


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[User] What are the genetic changes related to pseudohypoaldosteronism type 2 ?

[Assistant] PHA2 can be caused by mutations in the WNK1, WNK4, CUL3, or KLHL3 gene. These genes play a role in the regulation of blood pressure.  The proteins produced from the WNK1 and WNK4 genes help control the amount of sodium and potassium in the body by regulating channels in the cell membrane that control the transport of sodium or potassium into and out of cells. This process primarily occurs in the kidneys. Mutations in either of these genes disrupt control of these channels, leading to abnormal levels of sodium and potassium in the body. As a result, affected individuals develop hypertension and hyperkalemia.  The proteins produced from the CUL3 gene (called cullin-3) and the KLHL3 gene help control the amount of WNK1 and WNK4 protein available. Cullin-3 and KLHL3 are two pieces of a complex, called an E3 ubiquitin ligase, that tags certain other proteins with molecules called ubiquitin. This molecule acts as a signal for the tagged protein to be broken down when it is no longer needed. E3 ubiquitin ligases containing cullin-3 and KLHL3 are able to tag the WNK1 and WNK4 proteins with ubiquitin, leading to their breakdown. Mutations in either the CUL3 or KLHL3 gene impair breakdown of the WNK4 protein. (The effect of these mutations on the WNK1 protein is unclear.) An excess of WNK4 likely disrupts control of sodium and potassium levels, resulting in hypertension and hyperkalemia.


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[User] How to diagnose Cystic Fibrosis ?

[Assistant]
Doctors diagnose cystic fibrosis (CF) based on the results from various tests.

Newborn Screening

All States screen newborns for CF using a genetic test or a blood test. The genetic test shows whether a newborn has faulty CFTR genes. The blood test shows whether a newborn's pancreas is working properly.

Sweat Test

If a genetic test or blood test suggests CF, a doctor will confirm the diagnosis using a sweat test. This test is the most useful test for diagnosing CF. A sweat test measures the amount of salt in sweat.

For this test, the doctor triggers sweating on a small patch of skin on an arm or leg. He or she rubs the skin with a sweat-producing chemical and then uses an electrode to provide a mild electrical current. This may cause a tingling or warm feeling.

Sweat is collected on a pad or paper and then analyzed. The sweat test usually is done twice. High salt levels confirm a diagnosis of CF.

Other Tests

If you or your child has CF, your doctor may recommend other tests, such as:

Genetic tests to find out what type of CFTR defect is causing your CF.

A chest x ray. This test creates pictures of the structures in your chest, such as your heart, lungs, and blood vessels. A chest x ray can show whether your lungs are inflamed or scarred, or whether they trap air.

A sinus x ray. This test may show signs of sinusitis, a complication of CF.

Lung function tests. These tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood.

A sputum culture. For this test, your doctor will take a sample of your sputum (spit) to see whether bacteria are growing in it. If you have bacteria called mucoid Pseudomonas, you may have more advanced CF that needs aggressive treatment.

Prenatal Screening

If you're pregnant, prenatal genetic tests can show whether your fetus has CF. These tests include amniocentesis (AM-ne-o-sen-TE-sis) and chorionic villus (ko-re-ON-ik VIL-us) sampling (CVS).

In amniocentesis, your doctor inserts a hollow needle through your abdominal wall into your uterus. He or she removes a small amount of fluid from the sac around the baby. The fluid is tested to see whether both of the baby's CFTR genes are normal.

In CVS, your doctor threads a thin tube through the vagina and cervix to the placenta. The doctor removes a tissue sample from the placenta using gentle suction. The sample is tested to see whether the baby has CF.

Cystic Fibrosis Carrier Testing

People who have one normal CFTR gene and one faulty CFTR gene are CF carriers. CF carriers usually have no symptoms of CF and live normal lives. However, carriers can pass faulty CFTR genes on to their children.

If you have a family history of CF or a partner who has CF (or a family history of it) and you're planning a pregnancy, you may want to find out whether you're a CF carrier.

A genetics counselor can test a blood or saliva sample to find out whether you have a faulty CF gene. This type of testing can detect faulty CF genes in 9 out of 10 cases.


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[User] How many people are affected by phenylketonuria ?

[Assistant] The occurrence of PKU varies among ethnic groups and geographic regions worldwide. In the United States, PKU occurs in 1 in 10,000 to 15,000 newborns. Most cases of PKU are detected shortly after birth by newborn screening, and treatment is started promptly. As a result, the severe signs and symptoms of classic PKU are rarely seen.


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[User] What is the outlook for Corticobasal Degeneration ?

[Assistant] Corticobasal degeneration usually progresses slowly over the course of 6 to 8 years. Death is generally caused by pneumonia or other complications of severe debility such as sepsis or pulmonary embolism.


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[User] What is (are) Toe Injuries and Disorders ?

[Assistant] Fourteen of the 26 bones in your feet are in your toes. The toes, particularly your big toe, help you move and keep your balance. Playing sports, running, and receiving a blow to the foot can damage your toes. Wearing shoes that are too loose or too tight can also cause toe problems. Certain diseases, such as severe arthritis, can cause toe problems and pain. Gout often causes pain in the big toe.    Common toe problems include        -  Corns and bunions    -  Ingrown toenails    -  Toe joint sprains and dislocations    -  Fractured toe bones       Treatments for toe injuries and disorders vary. They might include shoe inserts or special shoes, padding, taping, medicines, rest, and in severe cases, surgery.


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[User] What is (are) Collapsed Lung ?

[Assistant] A collapsed lung happens when air enters the pleural space, the area between the lung and the chest wall. If it is a total collapse, it is called pneumothorax. If only part of the lung is affected, it is called atelectasis.    Causes of a collapsed lung include       - Lung diseases such as pneumonia or lung cancer    - Being on a breathing machine    - Surgery on the chest or abdomen    - A blocked airway       If only a small area of the lung is affected, you may not have symptoms. If a large area is affected, you may feel short of breath and have a rapid heart rate.    A chest x-ray can tell if you have it. Treatment depends on the underlying cause.    NIH: National Heart, Lung, and Blood Institute


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[User] What are the symptoms of Charcot-Marie-Tooth disease type 2K ?

[Assistant] What are the signs and symptoms of Charcot-Marie-Tooth disease type 2K? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2K. 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) Areflexia - Autosomal dominant inheritance - Autosomal recessive inheritance - Axonal regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Infantile onset - Kyphoscoliosis - Proximal muscle weakness - Split hand - 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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[User] What are the symptoms of Diabetes insipidus nephrogenic mental retardation and intracerebral calcification ?

[Assistant] What are the signs and symptoms of Diabetes insipidus nephrogenic mental retardation and intracerebral calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Diabetes insipidus nephrogenic mental retardation and intracerebral calcification. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Abnormality of the antihelix 90% Carious teeth 90% Cerebral calcification 90% Cognitive impairment 90% Hypoplasia of the zygomatic bone 90% Increased number of teeth 90% Limitation of joint mobility 90% Short stature 90% Abnormality of the genital system 50% Conductive hearing impairment 50% Nephrogenic diabetes insipidus - 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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[User] What are the treatments for spondyloepiphyseal dysplasia congenita ?

[Assistant] These resources address the diagnosis or management of spondyloepiphyseal dysplasia congenita:  - Genetic Testing Registry: Spondyloepiphyseal dysplasia congenita  - MedlinePlus Encyclopedia: Clubfoot  - MedlinePlus Encyclopedia: Lordosis  - MedlinePlus Encyclopedia: Retinal Detachment  - MedlinePlus Encyclopedia: Scoliosis   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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[User] How many people are affected by Baraitser-Winter syndrome ?

[Assistant] Baraitser-Winter syndrome is a rare condition. Fewer than 50 cases have been reported in the medical literature.


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[User] What are the symptoms of Raine syndrome ?

[Assistant] What are the signs and symptoms of Raine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Raine 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) Anteverted nares 90% Depressed nasal ridge 90% Enlarged thorax 90% Exaggerated cupid's bow 90% Increased bone mineral density 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Short neck 90% Gingival overgrowth 50% Intrauterine growth retardation 50% Proptosis 50% Respiratory insufficiency 50% Short nose 50% Mixed hearing impairment 7.5% Natal tooth 7.5% Bowing of the long bones 5% Brachydactyly syndrome 5% Highly arched eyebrow 5% Hydrocephalus 5% Hydronephrosis 5% Hypoplasia of dental enamel 5% Long hallux 5% Mandibular prognathia 5% Microdontia 5% Micromelia 5% Pectus excavatum 5% Plagiocephaly 5% Protruding ear 5% Wide mouth 5% Autosomal recessive inheritance - Brachyturricephaly - Cerebral calcification - Choanal atresia - Choanal stenosis - Cleft palate - Depressed nasal bridge - Elevated alkaline phosphatase - High palate - Hypertelorism - Hypophosphatemia - Hypoplasia of midface - Large fontanelles - Malar flattening - Narrow mouth - Neonatal death - Protruding tongue - Pulmonary hypoplasia - Short stature - Thoracic hypoplasia - 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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[User] What is (are) Chronic Pain ?

[Assistant] While acute pain is a normal sensation triggered in the nervous system to alert you to possible injury and the need to take care of yourself, chronic pain is different. Chronic pain persists. Pain signals keep firing in the nervous system for weeks, months, even years. There may have been an initial mishap -- sprained back, serious infection, or there may be an ongoing cause of pain -- arthritis, cancer, ear infection, but some people suffer chronic pain in the absence of any past injury or evidence of body damage. Many chronic pain conditions affect older adults. Common chronic pain complaints include headache, low back pain, cancer pain, arthritis pain, neurogenic pain (pain resulting from damage to the peripheral nerves or to the central nervous system itself), psychogenic pain (pain not due to past disease or injury or any visible sign of damage inside or outside the nervous system). A person may have two or more co-existing chronic pain conditions. Such conditions can include chronic fatigue syndrome, endometriosis, fibromyalgia, inflammatory bowel disease, interstitial cystitis, temporomandibular joint dysfunction, and vulvodynia. It is not known whether these disorders share a common cause.


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[User] What are the treatments for Canavan disease ?

[Assistant] These resources address the diagnosis or management of Canavan disease:  - Gene Review: Gene Review: Canavan Disease  - Genetic Testing Registry: Canavan disease, mild  - Genetic Testing Registry: Spongy degeneration of central nervous system  - MedlinePlus Encyclopedia: Canavan Disease   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] Is Leber hereditary optic neuropathy inherited ?

[Assistant] How is Leber hereditary optic neuropathy (LHON) inherited? Leber hereditary optic neuropathy is an inherited condition that has a mitochondrial pattern of inheritance. The gene mutations that cause this condition are found in the mitochondrial DNA. Mitochondria are inherited from a person's mother, and as a result, only females pass mitochondrial conditions on to their children. Men can be affected, but they cannot pass the condition on to their children. Often, people who develop the features of Leber hereditary optic neuropathy have no family history of the condition. Because a person may carry a mitochondrial DNA mutation without experiencing any signs or symptoms, it is hard to predict which members of a family who carry a mutation will eventually develop vision loss or other medical problems associated with Leber hereditary optic neuropathy. It is important to note that all females with a mitochondrial DNA mutation, even those who do not have any signs or symptoms, will pass the genetic change to their children.


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[User] What are the symptoms of Opsismodysplasia ?

[Assistant] What are the signs and symptoms of Opsismodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Opsismodysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormal vertebral ossification 90% Abnormality of epiphysis morphology 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Frontal bossing 90% Limb undergrowth 90% Macrocephaly 90% Respiratory insufficiency 90% Short nose 90% Tapered finger 90% Muscular hypotonia 50% Recurrent respiratory infections 50% Abnormality of thumb phalanx 7.5% Blue sclerae 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Narrow chest 7.5% Pectus excavatum 7.5% Splenomegaly 7.5% Hypophosphatemia 5% Renal phosphate wasting 5% Anterior rib cupping - Anteverted nares - Autosomal recessive inheritance - Bell-shaped thorax - Disproportionate short-limb short stature - Edema - Flat acetabular roof - Hypertelorism - Hypoplastic ischia - Hypoplastic pubic bone - Hypoplastic vertebral bodies - Large fontanelles - Long philtrum - Metaphyseal cupping - Polyhydramnios - Posterior rib cupping - Protuberant abdomen - Rhizomelia - Severe platyspondyly - Short foot - Short long bone - Short neck - Short palm - Squared iliac bones - 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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[User] What is (are) Norrie disease ?

[Assistant] Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop sensorineural hearing loss and many exhibit cognitive abnormalities such as developmental delays, behavioral issues, or psychotic-like features. Norrie disease is caused by mutations in the NDP gene. It is inherited in an X-linked recessive pattern. Treatment is directed toward the specific symptoms present in each individual. The coordinated efforts of a team of specialists, including pediatricians, ophthalmologists, and audiologists may be needed. Early intervention and special education services are important to ensure that children with Norrie disease reach their full potential.


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[User] What are the symptoms of ARDS ?

[Assistant]
The first signs and symptoms of ARDS are feeling like you can't get enough air into your lungs, rapid breathing, and a low blood oxygen level.

Other signs and symptoms depend on the cause of ARDS. They may occur before ARDS develops. For example, if pneumonia is causing ARDS, you may have a cough and fever before you feel short of breath.

Sometimes people who have ARDS develop signs and symptoms such as low blood pressure, confusion, and extreme tiredness. This may mean that the body's organs, such as the kidneys and heart, aren't getting enough oxygen-rich blood.

People who develop ARDS often are in the hospital for other serious health problems. Rarely, people who aren't hospitalized have health problems that lead to ARDS, such as severe pneumonia.

If you have trouble breathing, call your doctor right away. If you have severe shortness of breath, call 911.

Complications From ARDS

If you have ARDS, you can develop other medical problems while in the hospital. The most common problems are:

Infections. Being in the hospital and lying down for a long time can put you at risk for infections, such as pneumonia. Being on a ventilator also puts you at higher risk for infections.

A pneumothorax (collapsed lung). This is a condition in which air or gas collects in the space around the lungs. This can cause one or both lungs to collapse. The air pressure from a ventilator can cause this condition.

Lung scarring. ARDS causes the lungs to become stiff (scarred). It also makes it hard for the lungs to expand and fill with air. Being on a ventilator also can cause lung scarring.

Blood clots. Lying down for long periods can cause blood clots to form in your body. A blood clot that forms in a vein deep in your body is called a deep vein thrombosis. This type of blood clot can break off, travel through the bloodstream to the lungs, and block blood flow. This condition is called pulmonary embolism.


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[User] What is (are) spinocerebellar ataxia type 1 ?

[Assistant] Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to rapid, involuntary eye movements (nystagmus). Individuals with SCA1 may have difficulty processing, learning, and remembering information (cognitive impairment).  Over time, individuals with SCA1 may develop numbness, tingling, or pain in the arms and legs (sensory neuropathy); uncontrolled muscle tensing (dystonia); muscle wasting (atrophy); and muscle twitches (fasciculations). Rarely, rigidity, tremors, and involuntary jerking movements (chorea) have been reported in people who have been affected for many years.  Signs and symptoms of the disorder typically begin in early adulthood but can appear anytime from childhood to late adulthood. People with SCA1 typically survive 10 to 20 years after symptoms first appear.


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[User] Is Multiple endocrine neoplasia type 1 inherited ?

[Assistant] How is multiple endocrine neoplasia, type 1 inherited? Multiple endocrine neoplasia, type 1 (MEN1) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with MEN1 has a 50% chance with each pregnancy of passing along the altered gene to his or her child.


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[User] What are the treatments for autoimmune Addison disease ?

[Assistant] These resources address the diagnosis or management of autoimmune Addison disease:  - Genetic Testing Registry: Addison's disease  - MedlinePlus Encyclopedia: Addison's Disease   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the genetic changes related to steatocystoma multiplex ?

[Assistant] Steatocystoma multiplex can be caused by mutations in the KRT17 gene. This gene provides instructions for making a protein called keratin 17, which is produced in the nails, the hair follicles, and the skin on the palms of the hands and soles of the feet. It is also found in the skin's sebaceous glands. Keratin 17 partners with a similar protein called keratin 6b to form networks that provide strength and resilience to the skin, nails, and other tissues.  The KRT17 gene mutations that cause steatocystoma multiplex alter the structure of keratin 17, preventing it from forming strong, stable networks within cells. The defective keratin network disrupts the growth and function of cells in the skin and nails, including cells that make up the sebaceous glands. These abnormalities lead to the growth of sebum-containing cysts in people with steatocystoma multiplex. However, it is unclear why steatocystomas are typically the only feature of this disorder.  Many researchers believe that steatocystoma multiplex is a variant form of a disorder called pachyonychia congenita, which can also result from mutations in the KRT17 gene. Like steatocystoma multiplex, pachyonychia congenita involves the growth of steatocystomas. Pachyonychia congenita is also associated with more severe skin and nail abnormalities not usually found in people with steatocystoma multiplex.  In some cases, people with steatocystoma multiplex do not have an identified mutation in the KRT17 gene. The cause of the condition in these individuals is unknown.


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[User] What is (are) Hereditary sensory neuropathy type IE ?

[Assistant] Hereditary sensory neuropathy type IE (HSNIE) is a progressive disorder of the central and peripheral nervous systems. Symptoms typically begin by age 20 to 35 and include sensory impairment of the lower legs and feet; loss of sweating in the hands and feet; sensorineural hearing loss; and gradual decline of mental ability (dementia). The severity of symptoms and age of onset vary, even within the same family. HSNIE is caused by a mutation in the DNMT1 gene and is inherited in an autosomal dominant manner. There is no effective treatment, but management may include injury prevention, the use of hearing aids, and sedative or antipsychotic medications for symptoms of dementia.


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[User] What are the treatments for Leukemia ?

[Assistant] Researchers are studying various drugs, immunotherapies, and other types of treatments. Because leukemia is a complicated disease, researchers are also studying the effectiveness of using combinations of treatments. Following are a few examples of some areas of current research. The drug imatinib (Gleevec) is important in the treatment of chronic myeloid leukemia. However, imatinib stops working in some people with leukemia because the cells become resistant. Fortunately, two drugs, dasatinib (Sprycel) and nilotinib (Tasigna), are being used to treat people who stop responding to imatinib. Both are approved by the FDA for use in patients. These drugs work against the same abnormal protein targeted by imatinib, but in different ways. Gene therapy -- replacing, manipulating, or supplementing nonfunctional genes with healthy genes -- is being explored for treatment of leukemia. It is being studied as a way to stimulate a patient's immune system to kill leukemia cells and also to interfere with the production of proteins that cause cells to become cancerous.  Learn more about ongoing leukemia research.


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[User] Do you have information about Clinical Trials

[Assistant] Summary : Clinical trials are research studies that test how well new medical approaches work in people. Each study answers scientific questions and tries to find better ways to prevent, screen for, diagnose, or treat a disease. Clinical trials may also compare a new treatment to a treatment that is already available.    Every clinical trial has a protocol, or action plan, for conducting the trial. The plan describes what will be done in the study, how it will be conducted, and why each part of the study is necessary. Each study has its own rules about who can take part. Some studies need volunteers with a certain disease. Some need healthy people. Others want just men or just women.    An Institutional Review Board (IRB) reviews, monitors, and approves many clinical trials. It is an independent committee of physicians, statisticians, and members of the community. Its role is to       - Make sure that the study is ethical    - Protect the rights and welfare of the participants    - Make sure that the risks are reasonable when compared to the potential benefits       In the United States, a clinical trial must have an IRB if it is studying a drug, biological product, or medical device that the Food and Drug Administration (FDA) regulates, or it is funded or carried out by the federal government.    NIH: National Institutes of Health


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[User] What are the symptoms of Cleft palate X-linked ?

[Assistant] What are the signs and symptoms of Cleft palate X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bifid uvula - Cleft palate - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for Sturge-Weber syndrome ?

[Assistant] What are some of the benefits and risks of laser treatment for port-wine stains associated with Sturge-Weber syndrome? Pulsed dye laser (PDL) remains the treatment of choice for the majority of children with a port-wine stain (PWS). Laser treatment of port-wine stains may produce good cosmetic results, with a low incidence of adverse skin changes and other side effects. A major benefit of laser treatment for a PWS is that it can help to minimize psychological problems associated with the social consequences of having a PWS. It has been shown that large facial port-wine stains are associated with an increase in mood and social problems in children older than 10 years of age.Most experts agree that there is little risk associated with the use of PDL in a child with Sturge-Weber syndrome (SWS), provided that anticonvulsant therapy is maintained and that adequate care is taken. The level of pain associated with laser treatment varies. Management of anesthesia should be carefully planned to minimize the potential for secondary effects. Few children with SWS achieve complete clearance of their PWS with laser treatment; PDL does have limitations when large areas or dermatomal patterns are involved.


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[User] What are the genetic changes related to Glanzmann thrombasthenia ?

[Assistant] Mutations in the ITGA2B or ITGB3 gene cause Glanzmann thrombasthenia. These genes provide instructions for making the two parts (subunits) of a receptor protein called integrin alphaIIb/beta3 (IIb3). This protein is abundant on the surface of platelets. Platelets are small cell fragments that circulate in blood and are an essential component of blood clots. During clot formation, integrin IIb3 helps platelets bind together. Blood clots protect the body after injury by sealing off damaged blood vessels and preventing further blood loss.  ITGA2B or ITGB3 gene mutations result in a shortage (deficiency) of functional integrin IIb3. As a result, platelets cannot clump together to form a blood clot, leading to prolonged bleeding.  Three types of Glanzmann thrombasthenia have been classified according to the amount of integrin IIb3 that is available. People with type I (the most common type) have less than 5 percent of normal integrin IIb3 levels, people with type II have between 5 and 20 percent of normal integrin IIb3 levels, and people with the variant type have adequate integrin IIb3 levels but produce only nonfunctional integrin.  Some people with Glanzmann thrombasthenia do not have an identified mutation in either the ITGA2B or ITGB3 gene; the cause of the disorder in these individuals is unknown.


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[User] Who is at risk for Cataract? ?

[Assistant] Age-related cataracts develop in two ways. - Clumps of protein reduce the sharpness of the image reaching the retina.  - The clear lens slowly changes to a yellowish/brownish color, adding a brownish tint to vision. Clumps of protein reduce the sharpness of the image reaching the retina. The clear lens slowly changes to a yellowish/brownish color, adding a brownish tint to vision. Protein Clumpings Cloud the Lens The lens consists mostly of water and protein. When the protein clumps up, it clouds the lens and reduces the light that reaches the retina. The clouding may become severe enough to cause blurred vision. Most age-related cataracts develop from protein clumpings. When a cataract is small, the cloudiness affects only a small part of the lens. You may not notice any changes in your vision. Cataracts tend to grow slowly, so vision gets worse gradually. Over time, the cloudy area in the lens may get larger, and the cataract may increase in size. Seeing may become more difficult. Your vision may get duller or blurrier. Discoloration of the Lens Cataracts cause the lens to change to a yellowish/brownish color. As the clear lens slowly colors with age, your vision gradually may acquire a brownish shade. At first, the amount of tinting may be small and may not cause a vision problem. Over time, increased tinting may make it more difficult to read and perform other routine activities. This gradual change in the amount of tinting does not affect the sharpness of the image transmitted to the retina. If you have advanced lens discoloration, you may not be able to identify blues and purples. You may be wearing what you believe to be a pair of black socks, only to find out from friends that you are wearing purple socks. Risk Factors The risk of cataract increases as you get older. Other risk factors for cataract include - certain diseases like diabetes  - personal behavior like smoking or alcohol use  - environmental factors such as prolonged exposure to ultraviolet sunlight. certain diseases like diabetes personal behavior like smoking or alcohol use environmental factors such as prolonged exposure to ultraviolet sunlight.


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[User] What to do for Viral Gastroenteritis ?

[Assistant] - Viral gastroenteritis is inflammation of the lining of the stomach, small intestine, and large intestine. Several different viruses can cause viral gastroenteritis, which is highly contagious and extremely common.  - The main symptoms of viral gastroenteritis are watery diarrhea and vomiting.  - Dehydration is the most common complication of viral gastroenteritis.  - When someone does not drink enough fluids to replace those that are lost through vomiting and diarrhea, dehydration can result. Signs of dehydration in adults are excessive thirst, infrequent urination, dark-colored urine, dry skin, and lethargy, dizziness, or faintness.  - Infants, young children, older adults, and people with weak immune systems have the greatest risk of becoming dehydrated.  - Viral gastroenteritis is transmitted from person to person.  - Diagnosis of viral gastroenteritis is usually based on symptoms alone.  - Most cases of viral gastroenteritis resolve over time without specific treatment. Antibiotics are not effective against viral infections. The primary goal of treatment is to reduce symptoms.  - Adults with viral gastroenteritis should drink plenty of liquids such as fruit juices, sports drinks, caffeine-free soft drinks, and broths to replace fluids and electrolytes.  - Children with viral gastroenteritis should be given oral rehydration solutions to prevent dehydration.  - People can reduce their chances of getting or spreading viral gastroenteritis if they wash their hands thoroughly with soap and warm water for 20 seconds after using the bathroom or changing diapers and before eating or handling food, disinfect contaminated surfaces, and avoid foods or liquids that might be contaminated.


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[User] What is (are) Huntington disease-like syndrome ?

[Assistant] As its name suggests, a Huntington disease-like (HDL) syndrome is a condition that resembles Huntington disease. Researchers have described four HDL syndromes, designated Huntington disease-like 1 (HDL1) through Huntington disease-like 4 (HDL4). These progressive brain disorders are characterized by uncontrolled movements, emotional problems, and loss of thinking ability. HDL syndromes occur in people with the characteristic features of Huntington disease who do not have a mutation in HD, the gene typically associated with that disorder.  HDL1, HDL2, and HDL4 usually appear in early to mid-adulthood, although they can begin earlier in life. The first signs and symptoms of these conditions often include irritability, emotional problems, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many affected people develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these abnormal movements become more pronounced. Affected individuals may develop problems with walking, speaking, and swallowing. People with these disorders also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with an HDL syndrome can live for a few years to more than a decade after signs and symptoms begin.  HDL3 begins much earlier in life than most of the other HDL syndromes (usually around age 3 or 4). Affected children experience a decline in thinking ability, difficulties with movement and speech, and seizures. Because HDL3 has a somewhat different pattern of signs and symptoms and a different pattern of inheritance, researchers are unsure whether it belongs in the same category as the other HDL syndromes.


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[User] Is Hailey-Hailey disease inherited ?

[Assistant] How is Hailey-Hailey disease inherited? Hailey-Hailey disease is inherited in an autosomal dominant manner. This means that having only one mutated copy of the disease-causing gene in each cell is enough to cause signs or symptoms of the condition. Some people with Hailey-Hailey disease inherit the condition from an affected parent. Other cases are due to a new mutation in the gene and occur in people with no history of the condition in their family. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene.


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[User] What is (are) Baraitser-Winter syndrome ?

[Assistant] Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain.  An unusual facial appearance is the most common characteristic of Baraitser-Winter syndrome. Distinctive facial features can include widely spaced eyes (hypertelorism), large eyelid openings, droopy eyelids (ptosis), high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and upper lip (philtrum), full cheeks, and a pointed chin.  Structural brain abnormalities are also present in most people with Baraitser-Winter syndrome. These abnormalities are related to impaired neuronal migration, a process by which nerve cells (neurons) move to their proper positions in the developing brain. The most frequent brain abnormality associated with Baraitser-Winter syndrome is pachygyria, which is an area of the brain that has an abnormally smooth surface with fewer folds and grooves. Less commonly, affected individuals have lissencephaly, which is similar to pachygyria but involves the entire brain surface. These structural changes can cause mild to severe intellectual disability, developmental delay, and seizures.  Other features of Baraitser-Winter syndrome can include short stature, ear abnormalities and hearing loss, heart defects, presence of an extra (duplicated) thumb, and abnormalities of the kidneys and urinary system. Some affected individuals have limited movement of large joints, such as the elbows and knees, which may be present at birth or develop over time. Rarely, people with Baraitser-Winter syndrome have involuntary muscle tensing (dystonia).


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[User] How many people are affected by common variable immune deficiency ?

[Assistant] CVID is estimated to affect 1 in 25,000 to 1 in 50,000 people worldwide, although the prevalence can vary across different populations.


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[User] What are the treatments for Parsonage Turner syndrome ?

[Assistant] How might Parsonage Turner syndrome be treated? Treatment for Parsonage Turner syndrome (PTS) varies based on the signs and symptoms present in each person. For example, pain medications may be prescribed depending on the severity of the nerve pain. Other techniques for pain management include application of heat or cold and transcutaneous electrical nerve stimulation (a method of pain relief in which a special device transmits low-voltage electrical impulses through electrodes on the skin to an area of the body that is in pain). Many affected people undergo physical therapy and/or occupational therapy to maintain muscle strength and range of motion of affected joints once the pain begins to subside. Surgeries to restore movement and function to the shoulder muscles and joint may be considered if other treatment options are not effective.


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[User] What is (are) Erythromelalgia ?

[Assistant] Erythromelalgia (EM) is a rare condition characterized by episodes of burning pain, warmth, swelling and redness in parts of the body, particularly the hands and feet. This condition may occur spontaneously (primary EM) or secondary to neurological diseases, autoimmune diseases, or myeloproliferative disorders (secondary EM). Episodes may be triggered by increased body temperature, alcohol, and eating spicy foods. About 15% of cases are caused by mutations in the SCN9A gene and are inherited in an autosomal dominant manner. Other cases may be caused by unidentified genes or by non-genetic factors. Treatment depends on the underlying cause and may include topical and/or oral medications. In some cases, the condition goes away without treatment.


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[User] What is (are) Barber Say syndrome ?

[Assistant] Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It has been described in less than 20 patients in the medical literature. Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene. Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach.


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[User] How to prevent Pneumonia ?

[Assistant]
Pneumonia can be very serious and even life threatening. When possible, take steps to prevent the infection, especially if you're in a high-risk group.

Vaccines

Vaccines are available to prevent pneumococcal pneumonia and the flu. Vaccines can't prevent all cases of infection. However, compared to people who don't get vaccinated, those who do and still get pneumonia tend to have:

Milder cases of the infection

Pneumonia that doesn't last as long

Fewer serious complications

Pneumococcal Pneumonia Vaccine

A vaccine is available to prevent pneumococcal pneumonia. In most adults, one shot is good for at least 5 years of protection. This vaccine often is recommended for:

People who are 65 years old or older.

People who have chronic (ongoing) diseases, serious long-term health problems, or weak immune systems. For example, this may include people who have cancer, HIV/AIDS, asthma, or damaged or removed spleens.

People who smoke.

Children who are younger than 5 years old.

Children who are 518 years of age with certain medical conditions, such as heart or lung diseases or cancer. For more information, talk with your child's doctor.

For more information about the pneumococcal pneumonia vaccine, go to the Centers for Disease Control and Prevention's (CDC's) Vaccines and Preventable Diseases: Pneumococcal Vaccination Web page.

Influenza Vaccine

The vaccine that helps prevent the flu is good for 1 year. It's usually given in October or November, before peak flu season.

Because many people get pneumonia after having the flu, this vaccine also helps prevent pneumonia.

For more information about the influenza vaccine, go to the CDC's Vaccines and Preventable Diseases: Seasonal Influenza (Flu) Vaccination Web page.

Hib Vaccine

Haemophilus influenzae type b (Hib) is a type of bacteria that can cause pneumonia and meningitis (men-in-JI-tis). (Meningitis is an infection of the covering of the brain and spinal cord.) The Hib vaccine is given to children to help prevent these infections.

The vaccine is recommended for all children in the United States who are younger than 5 years old. The vaccine often is given to infants starting at 2 months of age.

For more information about the Hib vaccine, go to the CDC's Vaccines and Preventable Diseases: Hib Vaccination Web page.

Other Ways To Help Prevent Pneumonia

You also can take the following steps to help prevent pneumonia:

Wash your hands with soap and water or alcohol-based rubs to kill germs.

Don't smoke. Smoking damages your lungs' ability to filter out and defend against germs. For information about how to quit smoking, go to the Health Topics Smoking and Your Heart article. Although this resource focuses on heart health, it includes general information about how to quit smoking.

Keep your immune system strong. Get plenty of rest and physical activity and follow a healthy diet.

If you have pneumonia, limit contact with family and friends. Cover your nose and mouth while coughing or sneezing, and get rid of used tissues right away. These actions help keep the infection from spreading.


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[User] What is (are) Childhood ovarian cancer ?

[Assistant] Childhood ovarian cancer is a rare type of cancer that occurs due to abnormal and uncontrolled cell growth in the ovaries. The childhood form, specifically, is extremely rare and accounts for less than 5% of all ovarian cancer cases. The most common types of ovarian cancers diagnosed in children and adolescents include germ cell tumors, followed by epithelial tumors, stromal tumors, and then other tumors (such as Burkitt lymphoma and small cell carcinoma of the ovary). Many people with early ovarian cancer have no signs or symptoms of the condition. When present, symptoms may include painful menstrual periods; an abdominal lump; pain or swelling in the abdomen; having male sex traits (i.e. body hair or a deep voice); and/or early signs of puberty. The underlying cause of childhood ovarian cancer is often unknown. Certain inherited conditions, such as Ollier disease, Maffucci syndrome and Peutz-Jeghers syndrome are associated with an increased risk of developing childhood ovarian cancer. Treatment varies based on many factors including the type of ovarian tumor and the severity of the condition. It may include surgery, radiation therapy, and/or chemotherapy.


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[User] What causes Prader-Willi syndrome ?

[Assistant] What causes Prader-Willi syndrome? Prader-Willi syndrome (PWS) is caused by the loss of active genes in a specific region of chromosome 15. People normally inherit one copy of chromosome 15 from each parent. Some genes on chromosome 15 are only active (or "expressed") on the copy that is inherited from a person's father (the paternal copy). When genes are only active if inherited from a specific parent, it is called genomic imprinting. About 70% of cases of PWS occur when a person is missing specific genes on the long arm of the paternal copy of chromosome 15. This is called a deletion. While there are copies of these same genes on the maternal copy of chromosome 15, the maternal copies of these genes are not expressed.   In about 25% of cases, PWS is due to a person inheriting only 2 maternal copies of chromosome 15, instead of one copy from each parent. This is called maternal uniparental disomy. Rarely (in about 2% of cases), PWS is caused by a rearrangement of chromosome material called a translocation, or by a change (mutation) or other defect that abnormally inactivates genes on the paternal chromosome 15. Each of these genetic changes result in a loss of gene function on part of chromosome 15, likely causing the characteristic features of PWS.


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[User] How many people are affected by Charcot-Marie-Tooth disease ?

[Assistant] Charcot-Marie-Tooth disease is the most common inherited disorder that involves the peripheral nerves, affecting an estimated 150,000 people in the United States. It occurs in populations worldwide with a prevalence of about 1 in 2,500 individuals.