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

[User] Do you have information about Health Screening

[Assistant] Summary : Screenings are tests that look for diseases before you have symptoms. Screening tests can find diseases early, when they're easier to treat. You can get some screenings in your doctor's office. Others need special equipment, so you may need to go to a different office or clinic.    Some conditions that doctors commonly screen for include       - Breast cancer and cervical cancer in women    - Colorectal cancer    - Diabetes    - High blood pressure    - High cholesterol    - Osteoporosis    - Overweight and obesity    - Prostate cancer in men       Which tests you need depends on your age, your sex, your family history, and whether you have risk factors for certain diseases. After a screening test, ask when you will get the results and whom to talk to about them.    Agency for Healthcare Research and Quality


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[User] How many people are affected by mandibuloacral dysplasia ?

[Assistant] Mandibuloacral dysplasia is a rare condition; its prevalence is unknown.


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[User] What are the treatments for Swallowing Disorders ?

[Assistant] Changing a person's diet by adding thickeners helps many people, as does learning different ways to eat and chew that reduce the risk for aspiration. Occasionally drug therapy that helps the neurological disorder can also help dysphagia. In a few persons, botulinum toxin injections can help when food or liquid cannot enter the esophagus to get to the stomach. More severely disabled individuals may require surgery or the insertion of feeding tubes.


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[User] Who is at risk for Gestational Trophoblastic Disease? ?

[Assistant] Age and a previous molar pregnancy affect the risk of GTD. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk. Risk factors for GTD include the following:         - Being pregnant when you are younger than 20 or older than 35 years of age.     - Having a personal history of hydatidiform mole.


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[User] What is (are) Asbestos-Related Lung Diseases ?

[Assistant]
Asbestos-related lung diseases are diseases caused by exposure to asbestos (as-BES-tos) fibers. Asbestos is a mineral that, in the past, was widely used in many industries.

Asbestos is made up of tiny fibers that can escape into the air. When breathed in, these fibers can stay in your lungs for a long time. If the fibers build up in your lungs, they can lead to:

Pleural plaque. In this condition, the tissue around the lungs and diaphragm (the muscle below your lungs) thickens and hardens. This tissue is called the pleura. Pleural plaque usually causes no symptoms. Rarely, as the pleura thickens, it can trap and compress part of the lung. This may show up as a mass on an x-ray image.

Pleural effusion. In this condition, excess fluid builds up in the pleural space. The pleural space is the area between the lungs and the chest wall.

Asbestosis (as-bes-TOE-sis). In this condition, the lung tissue becomes scarred. People who have asbestosis are at greater risk for lung cancer, especially if they smoke.

Lung cancer. This type of cancer forms in the lung tissue, usually in the cells lining the air passages.

Mesothelioma (MEZ-o-thee-lee-O-ma). This disease is cancer of the pleura.

Asbestos also can cause cancer in the lining of the abdominal cavity. This lining is known as the peritoneum (PER-ih-to-NE-um).

Asbestos-Related Lung Diseases

Overview

Until the 1970s, asbestos was widely used in many industries in the United States. For example, it was used to insulate pipes, boilers, and ships; make brakes; strengthen cement; and fireproof many items, such as drywall.

People who worked around asbestos during that time are at risk for asbestos-related lung diseases. People at highest risk include:

Unprotected workers who made, installed, or removed products containing asbestos. People who worked near others who did these jobs also are at risk.

Family members of workers who were exposed to asbestos. Family members may have breathed in asbestos fibers that workers brought home on their clothes, shoes, or bodies.

People who live in areas with large deposits of asbestos in the soil. This risk is limited to areas where the deposits were disturbed and asbestos fibers got into the air.

Asbestos fibers also can be released into the air when older buildings containing asbestos-made products are destroyed. Removing these products during building renovations also can release asbestos fibers into the air.

Generally, being around asbestos-made products isnt a danger as long as the asbestos is enclosed. This prevents the fibers from getting into the air.

People in the United States are less likely to have asbestos-related lung diseases now because the mineral is no longer widely used.

The use of asbestos is heavily restricted, and rules and standards are now in place to protect workers and others from asbestos exposure. Asbestos is found in only a few new products, such as gaskets used in brakes.

However, many countries do not yet restrict asbestos use. People in those countries are still exposed to the mineral.

Outlook

The outlook for people who have asbestos-related lung diseases can vary. It will depend on which disease a person has and how much it has damaged the lungs.

No treatments can reverse the effects of asbestos on your lungs. However, treatments may help relieve symptoms, slow the progress of the disease, and prevent complications.

If you've been exposed to asbestos, let your doctor know. He or she can watch you for signs of asbestos-related problems and start treatment early, if needed. Early treatment may help prevent or delay complications.

Quitting smoking and making other lifestyle changes may help people who are at high risk for asbestos-related lung diseases. These lifestyle changes may prevent more serious diseases, such as cancer.


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[User] What is (are) Niemann-Pick disease ?

[Assistant] Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.  Infants with Niemann-Pick disease type A usually develop an enlarged liver and spleen (hepatosplenomegaly) by age 3 months and fail to gain weight and grow at the expected rate (failure to thrive). The affected children develop normally until around age 1 year when they experience a progressive loss of mental abilities and movement (psychomotor regression). Children with Niemann-Pick disease type A also develop widespread lung damage (interstitial lung disease) that can cause recurrent lung infections and eventually lead to respiratory failure. All affected children have an eye abnormality called a cherry-red spot, which can be identified with an eye examination. Children with Niemann-Pick disease type A generally do not survive past early childhood.  Niemann-Pick disease type B usually presents in mid-childhood. The signs and symptoms of this type are similar to type A, but not as severe. People with Niemann-Pick disease type B often have hepatosplenomegaly, recurrent lung infections, and a low number of platelets in the blood (thrombocytopenia). They also have short stature and slowed mineralization of bone (delayed bone age). About one-third of affected individuals have the cherry-red spot eye abnormality or neurological impairment. People with Niemann-Pick disease type B usually survive into adulthood.  The signs and symptoms of Niemann-Pick disease types C1 and C2 are very similar; these types differ only in their genetic cause. Niemann-Pick disease types C1 and C2 usually become apparent in childhood, although signs and symptoms can develop at any time. People with these types usually develop difficulty coordinating movements (ataxia), an inability to move the eyes vertically (vertical supranuclear gaze palsy), poor muscle tone (dystonia), severe liver disease, and interstitial lung disease. Individuals with Niemann-Pick disease types C1 and C2 have problems with speech and swallowing that worsen over time, eventually interfering with feeding. Affected individuals often experience progressive decline in intellectual function and about one-third have seizures. People with these types may survive into adulthood.


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[User] What causes Multicentric Castleman Disease ?

[Assistant] What causes multicentric Castleman disease? The exact underlying cause of multicentric Castleman disease (MCD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of MCD. IL-6 is a substance normally produced by cells within the lymph nodes that helps coordinate the immune response to infection. Increased production of IL-6 may result in an overgrowth of lymphatic cells, leading to many of the signs and symptoms of MCD. It has also been found that a virus called human herpes virus type 8 (also known as HHV-8, Kaposi's sarcoma-associated herpesvirus, or KSHV) is present in many people with MCD. HHV-8 is found in nearly all people who are HIV-positive and develop MCD, and in up to 60% of affected people without HIV. The HHV-8 virus may possibly cause MCD by making its own IL-6.


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[User] What is (are) Knee Replacement ?

[Assistant] The main reason to have knee replacement surgery is to ease pain and disability caused by arthritis or other joint problems, while preserving movement. Less commonly, it is used to correct some kinds of knee deformity.


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[User] Is hereditary sensory and autonomic neuropathy type V 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 the outlook for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ?

[Assistant] Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) is affected by certain factors before and after treatment.    The prognosis of untreated osteosarcoma and MFH depends on the following:         - Where the tumor is in the body and whether tumors formed in more than one bone.    - The size of the tumor.    - Whether the cancer has spread to other parts of the body and where it has spread.    - The type of tumor (based on how the cancer cells look under a microscope).    - The patient's age and weight at diagnosis.    - Whether the tumor has caused a break in the bone.     - Whether the patient has certain genetic diseases.        After osteosarcoma or MFH is treated, prognosis also depends on the following:         - How much of the cancer was killed by chemotherapy.    - How much of the tumor was taken out by surgery.    - Whether chemotherapy is delayed for more than 3 weeks after surgery takes place.    - Whether the cancer has recurred (come back) within 2 years of diagnosis.        Treatment options for osteosarcoma and MFH depend on the following:         - Where the tumor is in the body.    - The size of the tumor.    - The stage of the cancer.    - Whether the bones are still growing.    - The patient's age and general health.    - The desire of the patient and family for the patient to be able to participate in activities such as sports or have a certain appearance.    - Whether the cancer is newly diagnosed or has recurred after treatment.


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[User] What is (are) familial restrictive cardiomyopathy ?

[Assistant] Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).  In people with familial restrictive cardiomyopathy, the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.  Familial restrictive cardiomyopathy can appear anytime from childhood to adulthood. The first signs and symptoms of this condition in children are failure to gain weight and grow at the expected rate (failure to thrive), extreme tiredness (fatigue), and fainting. Children who are severely affected may also have abnormal swelling or puffiness (edema), increased blood pressure, an enlarged liver, an abnormal buildup of fluid in the abdominal cavity (ascites), and lung congestion. Some children with familial restrictive cardiomyopathy do not have any obvious signs or symptoms, but they may die suddenly due to heart failure. Without treatment, the majority of affected children survive only a few years after they are diagnosed.  Adults with familial restrictive cardiomyopathy typically first develop shortness of breath, fatigue, and a reduced ability to exercise. Some individuals have an irregular heart beat (arrhythmia) and may also experience a sensation of fluttering or pounding in the chest (palpitations) and dizziness. Abnormal blood clots are commonly seen in adults with this condition. Without treatment, approximately one-third of adults with familial restrictive cardiomyopathy do not survive more than five years after diagnosis.


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[User] What are the treatments for Parkes Weber syndrome ?

[Assistant] How might Parkes Weber syndrome be treated? For capillary malformations (such as port wine stains) that are of cosmetic concern, individuals may be referred to a dermatologist. For arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), the risks and benefits of intervention (i,e, embolization versus surgery) may be considered, usually with input from a multi-disciplinary team (e.g., specialists in interventional radiology, neurosurgery, surgery, cardiology, and dermatology). For risks associated with heart failure, referral to a cardiologist may be warranted. Hypertrophy (overgrowth) of the limb and/or difference in size between limbs may be treated surgically by an orthopedist. Supportive care may include compression garments (tight-fitting pieces of clothing on the affected limb to reduce pain and swelling); these may also protect the limb from bumps and scrapes, which can cause bleeding. Heel inserts may be used if the legs are different lengths, which can aid in walking normally. Various pain medications and antibiotic medications may be prescribed as needed.


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[User] What are the treatments for potassium-aggravated myotonia ?

[Assistant] These resources address the diagnosis or management of potassium-aggravated myotonia:  - Genetic Testing Registry: Potassium aggravated myotonia   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) Congenital dyserythropoietic anemia type 2 ?

[Assistant] Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallstones. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. CDA type II usually results from mutations in the SEC23B gene. It is inherited in an autosomal recessive pattern. Treatment depends on the severity of the symptoms and may involve blood transfusions, iron chelation therapy and removal of the spleen and gallbladder.


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[User] What are the stages of Nasopharyngeal Cancer ?

[Assistant]
Key Points
                    - After nasopharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the nasopharynx or to other parts of the body.     - There are three ways that cancer spreads in the body.    - Cancer may spread from where it began to other parts of the body.    - The following stages are used for nasopharyngeal cancer:         - Stage 0 (Carcinoma in Situ)     - Stage I     - Stage II     - Stage III     - Stage IV

                    After nasopharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the nasopharynx or to other parts of the body.
                    The process used to find out whether cancer has spread within the nasopharynx or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The results of the tests used to diagnose nasopharyngeal cancer are often also used to stage the disease. (See the General Information section.)

                    There are three ways that cancer spreads in the body.
                    Cancer can spread through tissue, the lymph system, and the blood:         - Tissue. The cancer spreads from where it began by growing into nearby areas.     - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body.     - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body.

                    Cancer may spread from where it began to other parts of the body.
                    When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood.         - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body.    - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body.        The metastatic tumor is the same type of cancer as the primary tumor. For example, if nasopharyngeal cancer spreads to the lung, the cancer cells in the lung are actually nasopharyngeal cancer cells. The disease is metastatic nasopharyngeal cancer, not lung cancer.

                    The following stages are used for nasopharyngeal cancer:
                    Stage 0 (Carcinoma in Situ)    In stage 0, abnormal cells are found in the lining of the nasopharynx. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ.       Stage I    In stage I, cancer has formed and the cancer:            - is found in the nasopharynx only; or     - has spread from the nasopharynx to the oropharynx and/or to the nasal cavity.           The oropharynx is the middle part of the throat and includes the soft palate, the base of the tongue, and the tonsils.        Stage II    In stage II nasopharyngeal cancer, the cancer:            - is found in the nasopharynx only or has spread from the nasopharynx to the oropharynx and/or to the nasal cavity. Cancer has spread to one or more lymph nodes on one side of the neck and/or to lymph nodes behind the pharynx. The affected lymph nodes are 6 centimeters or smaller; or      -  is found in the parapharyngeal space. Cancer may have spread to one or more lymph nodes on one side of the neck and/or to lymph nodes behind the pharynx. The affected lymph nodes are 6 centimeters or smaller.            The oropharynx is the middle part of the throat and includes the soft palate, the base of the tongue, and the tonsils. The parapharyngeal space is a fat-filled, triangular area near the pharynx, between the base of the skull and the lower jaw.       Stage III     In stage III nasopharyngeal cancer, the cancer:            - is found in the nasopharynx only or has spread from the nasopharynx to the oropharynx and/or to the nasal cavity. Cancer has spread to one or more lymph nodes on both sides of the neck. The affected lymph nodes are 6 centimeters or smaller; or      - is found in the parapharyngeal space. Cancer has spread to one or more lymph nodes on both sides of the neck. The affected lymph nodes are 6 centimeters or smaller; or      - has spread to nearby bones or sinuses. Cancer may have spread to one or more lymph nodes on one or both sides of the neck and/or to lymph nodes behind the pharynx. The affected lymph nodes are 6 centimeters or smaller.            The oropharynx is the middle part of the throat and includes the soft palate, the base of the tongue, and the tonsils. The parapharyngeal space is a fat-filled, triangular area near the pharynx, between the base of the skull and the lower jaw.       Stage IV     Stage IV nasopharyngeal cancer is divided into stages IVA, IVB, and IVC.            -  Stage IVA: Cancer has spread beyond the nasopharynx and may have spread to the cranial nerves, the hypopharynx (bottom part of the throat), areas in and around the side of the skull or jawbone, and/or the bone around the eye. Cancer may also have spread to one or more lymph nodes on one or both sides of the neck and/or to lymph nodes behind the pharynx. The affected lymph nodes are 6 centimeters or smaller.     -  Stage IVB: Cancer has spread to lymph nodes between the collarbone and the top of the shoulder and/or the affected lymph nodes are larger than 6 centimeters.      -  Stage IVC: Cancer has spread beyond nearby lymph nodes to other parts of the body.


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

[Assistant] Mutations in the B3GLCT gene cause Peters plus syndrome. The B3GLCT gene provides instructions for making an enzyme called beta 3-glucosyltransferase (B3Glc-T), which is involved in the complex process of adding sugar molecules to proteins (glycosylation). Glycosylation modifies proteins so they can perform a wider variety of functions. Most mutations in the B3GLCT gene lead to the production of an abnormally short, nonfunctional version of the B3Glc-T enzyme, which disrupts glycosylation. It is unclear how the loss of functional B3Glc-T enzyme leads to the signs and symptoms of Peters plus syndrome, but impaired glycosylation likely disrupts the function of many proteins, which may contribute to the variety of features.


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[User] What are the treatments for frontonasal dysplasia ?

[Assistant] These resources address the diagnosis or management of frontonasal dysplasia:  - Genetic Testing Registry: Frontonasal dysplasia 1  - Genetic Testing Registry: Frontonasal dysplasia 2  - Genetic Testing Registry: Frontonasal dysplasia 3  - KidsHealth from Nemours: Cleft Lip and Palate  - MedlinePlus Encyclopedia: Head and Face Reconstruction  - Mount Sinai Hospital: Cleft Nasal Deformity  - University of Rochester Medical Center: Nasal Alveolar Molding   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 Parry-Romberg ?

[Assistant] The prognosis for individuals with Parry-Romberg syndrome varies. In some cases, the atrophy ends before the entire face is affected. In mild cases, the disorder usually causes no disability other than cosmetic effects.


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[User] How many people are affected by familial cold autoinflammatory syndrome ?

[Assistant] Familial cold autoinflammatory syndrome is a very rare condition, believed to have a prevalence of less than 1 per million people.


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[User] Is 6q24-related transient neonatal diabetes mellitus inherited ?

[Assistant] Most cases of 6q24-related transient neonatal diabetes mellitus are not inherited, particularly those caused by paternal uniparental disomy. In these cases, genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family.  Sometimes, the genetic change responsible for 6q24-related transient neonatal diabetes mellitus is inherited. For example, a duplication of genetic material on the paternal chromosome 6 can be passed from one generation to the next.  When 6q24-related transient neonatal diabetes mellitus is caused by ZFP57 gene mutations, it is inherited in an autosomal recessive pattern. Autosomal recessive inheritance 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 are the symptoms of Systemic capillary leak syndrome ?

[Assistant] What are the signs and symptoms of Systemic capillary leak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Systemic capillary leak 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) Edema of the lower limbs 90% Leukocytosis 90% Abdominal pain 50% Abnormal immunoglobulin level 50% Diarrhea 50% Hypotension 50% Impaired temperature sensation 50% Myalgia 50% Pancreatitis 50% Pulmonary edema 50% Sinusitis 50% Weight loss 50% Abnormality of temperature regulation 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Abnormality of the renal tubule 7.5% Multiple myeloma 7.5% Renal insufficiency 7.5% Seizures 7.5% Sudden cardiac death 7.5% Thrombophlebitis 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 are the symptoms of Glutaric acidemia type II ?

[Assistant] What are the signs and symptoms of Glutaric acidemia type II? Signs and symptoms of glutaric acidemia type II (GA2) can vary widely depending on the age of onset and severity of the condition in each affected individual. In most cases, the condition appears in infancy or early childhood as a sudden episode called a metabolic crisis which causes weakness; behavior changes such as poor feeding and decreased activity; and vomiting. These crises can be life-threatening and may be triggered by common childhood illnesses or other stresses on the body. The most severe cases may appear in the neonatal period (within the first 4 weeks of life) and may also be characterized by the presence of physical abnormalities at birth. These abnormalities may include brain malformations; an enlarged liver (hepatomegaly); a weakened and enlarged heart (dilated cardiomyopathy); fluid-filled cysts and other malformations of the kidneys; unusual facial features; and genital abnormalities. Some affected individuals have a characteristic odor resembling sweaty feet. Other cases are less severe and may appear later in childhood, in adolescence, or in adulthood. In the most mild cases, muscle weakness may be the first sign of the disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type II. 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 facial shape - Abnormality of the genital system - Abnormality of the pinna - Autosomal recessive inheritance - Congenital cataract - Defective dehydrogenation of isovaleryl CoA and butyryl CoA - Depressed nasal bridge - Electron transfer flavoprotein-ubiquinone oxidoreductase defect - Ethylmalonic aciduria - Generalized aminoaciduria - Gliosis - Glutaric acidemia - Glutaric aciduria - Glycosuria - Hepatic periportal necrosis - Hepatic steatosis - Hepatomegaly - High forehead - Hypoglycemia - Hypoglycemic coma - Jaundice - Macrocephaly - Muscle weakness - Muscular hypotonia - Nausea - Neonatal death - Pachygyria - Polycystic kidney dysplasia - Proximal tubulopathy - Pulmonary hypoplasia - Renal cortical cysts - Respiratory distress - Telecanthus - Vomiting - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Farber's Disease ?

[Assistant] Farbers disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system. The liver, heart, and kidneys may also be affected. Disease onset is typically seen in early infancy but may occur later in life. Symptoms of the classic form may have moderately impaired mental ability and difficulty with swallowing. Other symptoms may include chronic shortening of muscles or tendons around joints. arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), and vomiting. Affected persons may require the insertion of a breathing tube. In severe cases, the liver and spleen are enlarged. Farber's disease is caused by a deficiency of the enzyme ceramidase. The disease occurs when both parents carry and pass on the defective gene that regulates the protein sphingomyelin. Children born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females.


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[User] How many people are affected by peroxisomal acyl-CoA oxidase deficiency ?

[Assistant] Peroxisomal acyl-CoA oxidase deficiency is a rare disorder. Its prevalence is unknown. Only a few dozen cases have been described in the medical literature.


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[User] What is (are) adenosine monophosphate deaminase deficiency ?

[Assistant] Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). People with this condition do not make enough of an enzyme called AMP deaminase. In most people, AMP deaminase deficiency does not cause any symptoms. People who do experience symptoms typically have muscle pain (myalgia) or weakness after exercise or prolonged physical activity. They often get tired more quickly and stay tired longer than would normally be expected. Some affected individuals have more severe symptoms, but it is unclear whether these symptoms are due solely to a lack of AMP deaminase or additional factors. Muscle weakness is typically apparent beginning in childhood or early adulthood.  Researchers have proposed three types of AMP deaminase deficiency, which are distinguished by their symptoms and genetic cause.


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[User] What is (are) Sjgren-Larsson syndrome ?

[Assistant] Sjgren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems. These symptoms are apparent by early childhood and usually do not worsen with age.  Affected infants tend to be born prematurely. At birth the skin is red (erythema), but later in infancy the skin becomes dry, rough, and scaly with a brownish or yellowish tone. Mild to severe itchiness (pruritus) is also common. These skin abnormalities are generally dispersed over the whole body, most severely affecting the nape of the neck, the torso, and the extremities. The skin of the face is usually not affected.  People with this condition may also have neurological signs and symptoms. Most affected individuals have leukoencephalopathy, which is a change in a type of brain tissue called white matter. White matter consists of nerve fibers covered by a substance (myelin) that insulates and protects the nerves. The leukoencephalopathy is thought to contribute to many of the neurological signs and symptoms in people with Sjgren-Larsson syndrome. Most affected individuals have intellectual disability that varies from mild to profound and is usually apparent by early childhood. People with Sjgren-Larsson syndrome have speech difficulties (dysarthria) and delayed speech. Usually they are able to produce only short sentences with poorly formed words. Rarely, people with this condition have normal intelligence. In addition, approximately 40 percent of people with Sjgren-Larsson syndrome have seizures.  Children with this condition often experience delayed development of motor skills (such as crawling and walking) due to abnormal muscle stiffness (spasticity) that is typically in their legs and, less commonly, also in their arms. About one-half of people with Sjgren-Larsson syndrome require wheelchair assistance and many others need some form of support to walk.  Affected individuals have tiny crystals in the light-sensitive tissue at the back of the eye (retina) that can be seen during an eye exam. Based on their appearance, these retinal crystals are often called glistening white dots. These white dots are usually apparent by early childhood, and it is unclear if they affect normal vision. People with Sjgren-Larsson syndrome may also have nearsightedness (myopia) or an increased sensitivity to light (photophobia).


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[User] What is (are) Mayer-Rokitansky-Kster-Hauser syndrome ?

[Assistant] Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent. Affected women usually do not have menstrual periods due to the absent uterus. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 16 (primary amenorrhea). Women with MRKH syndrome have a female chromosome pattern (46,XX) and normally functioning ovaries. They also have normal female external genitalia and normal breast and pubic hair development. Although women with this condition are usually unable to carry a pregnancy, they may be able to have children through assisted reproduction.  Women with MRKH syndrome may also have abnormalities in other parts of the body. The kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Affected individuals commonly develop skeletal abnormalities, particularly of the spinal bones (vertebrae). Females with MRKH syndrome may also have hearing loss or heart defects.


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

[Assistant] Mutations in the TAZ gene cause Barth syndrome. The TAZ gene provides instructions for making a protein called tafazzin. Tafazzin is located in structures called mitochondria, which are the energy-producing centers of cells. Tafazzin is involved in altering a fat (lipid) called cardiolipin, which plays critical roles in the mitochondrial inner membrane. Once altered by tafazzin, cardiolipin is key in maintaining mitochondrial shape, energy production, and protein transport within cells.  TAZ gene mutations result in the production of tafazzin proteins with little or no function. As a result, tafazzin cannot alter cardiolipin. A lack of functional cardiolipin impairs normal mitochondrial shape and functions. Tissues with high energy demands, such as the heart and skeletal muscles, are most susceptible to cell death due to reduced energy production in mitochondria. Additionally, abnormally shaped mitochondria are found in affected white blood cells, which could affect their ability to grow (proliferate) and mature (differentiate), leading to neutropenia. Dysfunctional mitochondria likely lead to other signs and symptoms of Barth syndrome.


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[User] How many people are affected by Pallister-Killian mosaic syndrome ?

[Assistant] Pallister-Killian mosaic syndrome appears to be a rare condition, although its exact prevalence is unknown. This disorder may be underdiagnosed because it can be difficult to detect in people with mild signs and symptoms. As a result, most diagnoses are made in children with more severe features of the disorder. More than 150 people with Pallister-Killian mosaic syndrome have been reported in the medical literature.


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[User] What are the symptoms of Gastroparesis ?

[Assistant]
The most common symptoms of gastroparesis are nausea, a feeling of fullness after eating only a small amount of food, and vomiting undigested foodsometimes several hours after a meal. Other symptoms of gastroparesis include

- gastroesophageal reflux (GER), also called acid reflux or acid regurgitationa condition in which stomach contents flow back up into the esophagus, the organ that connects the mouth to the stomach  - pain in the stomach area  - abdominal bloating  - lack of appetite

Symptoms may be aggravated by eating greasy or rich foods, large quantities of foods with fibersuch as raw fruits and vegetablesor drinking beverages high in fat or carbonation. Symptoms may be mild or severe, and they can occur frequently in some people and less often in others. The symptoms of gastroparesis may also vary in intensity over time in the same individual. Sometimes gastroparesis is difficult to diagnose because people experience a range of symptoms similar to those of other diseases.


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[User] What are the genetic changes related to mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ?

[Assistant] MELAS can result from mutations in one of several genes, including MT-ND1, MT-ND5, MT-TH, MT-TL1, and MT-TV. These genes are found in the DNA of cellular structures called mitochondria, which convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA, known as mitochondrial DNA or mtDNA.  Some of the genes related to MELAS provide instructions for making proteins involved in normal mitochondrial function. These proteins are part of a large enzyme complex in mitochondria that helps convert oxygen, fats, and simple sugars to energy. Other genes associated with this disorder provide instructions for making molecules called transfer RNAs (tRNAs), which are chemical cousins of DNA. These molecules help assemble protein building blocks called amino acids into full-length, functioning proteins within mitochondria.  Mutations in a particular transfer RNA gene, MT-TL1, cause more than 80 percent of all cases of MELAS. These mutations impair the ability of mitochondria to make proteins, use oxygen, and produce energy. Researchers have not determined how changes in mtDNA lead to the specific signs and symptoms of MELAS. They continue to investigate the effects of mitochondrial gene mutations in different tissues, particularly in the brain.


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[User] What are the treatments for Heart Disease in Women ?

[Assistant]
Treatment forcoronary heart disease (CHD) usually is the same for both women and men. Treatment may include lifestyle changes, medicines, medical and surgical procedures, andcardiac rehabilitation(rehab).

The goals of treatment are to:

Relieve symptoms.

Reduce risk factors in an effort to slow, stop, or reverse the buildup of plaque.

Lower the risk of blood clots forming. (Blood clots can cause aheart attack.)

Widen or bypass plaque-clogged coronary (heart) arteries.

Prevent CHD complications.

Lifestyle Changes

Making lifestyle changes can help prevent or treat CHD. These changes may be the only treatment that some people need.

Quit Smoking

If you smoke or use tobacco, try to quit. Smoking can raise your risk for CHD and heart attack and worsen other CHD risk factors. Talk with your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke.

If you find it hard to quit smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking.

For more information about how to quit smoking, go to the Health Topics Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's (NHLBI's) "Your Guide to a Healthy Heart."

Follow a Healthy Diet

A healthy diet is an important part of a healthy lifestyle. A healthy diet includes a variety of vegetables and fruits. These foods can be fresh, canned, frozen, or dried. A good rule is to try to fill half of your plate with vegetables and fruits.

A healthy diet also includes whole grains, fat-free or low-fat dairy products, and protein foods, such as lean meats, poultry without skin, seafood, processed soy products, nuts, seeds, beans, and peas.

Choose and prepare foods with little sodium (salt). Too much salt can raise your risk for high blood pressure. Studies show that following the Dietary Approaches to Stop Hypertension (DASH) eating plan can lower blood pressure.

Try to avoid foods and drinks that are high in added sugars. For example, drink water instead of sugary drinks, like soda.

Also, try to limit the amount of solid fats and refined grains that you eat. Solid fats are saturated fat and trans fatty acids. Refined grains come from processing whole grains, which results in a loss of nutrients (such as dietary fiber).

If you drink alcohol, do so in moderation. Research suggests that regularly drinking small to moderate amounts of alcohol may lower the risk of CHD. Women should have no more than one alcoholic drink a day.

One drink a day can lower your CHD risk by raising your HDL cholesterol level. One drink is a glass of wine, beer, or a small amount of hard liquor.

If you don't drink, this isn't a recommendation to start using alcohol. Also, you shouldn't drink if you're pregnant, if you're planning to become pregnant, or if you have another health condition that could make alcohol use harmful.

Too much alcohol can cause you to gain weight and raise your blood pressure and triglyceride level. In women, even one drink a day may raise the risk of certain types of cancer.

For more information about following a healthy diet, go to the NHLBI's "Your Guide to Lowering Your Blood Pressure With DASH" and the U.S. Department of Agriculture's ChooseMyPlate.gov Web site. Both resources provide general information about healthy eating.

Be Physically Active

Regular physical activity can lower many CHD risk factors, including high LDL cholesterol,high blood pressure, and excess weight.

Physical activity also can lower your risk for diabetes and raise your HDL cholesterol level. (HDL cholesterol helps remove cholesterol from your arteries.)

Talk with your doctor before you start a new exercise plan. Ask him or her how much and what kinds of physical activity are safe for you.

People gain health benefits from as little as 60 minutes of moderate-intensity aerobic activity per week. Walking is an excellent heart healthy exercise. The more active you are, the more you will benefit.

For more information about physical activity, go to the U.S. Department of Health and Human Services' "2008 Physical Activity Guidelines for Americans," the Health Topics Physical Activity and Your Heart article, and the NHLBI's "Your Guide to Physical Activity and Your Heart."

Maintain a Healthy Weight

Overweight and obesity are risk factors for CHD. If you're overweight or obese, try to lose weight. Cut back your calorie intake and do more physical activity. Eat smaller portions and choose lower calorie foods. Your health care provider may refer you to a dietitian to help you manage your weight.

A BMI of less than 25 and a waist circumference of 35 inches or less is the goal for preventing and treating CHD. BMI measures your weight in relation to your height and gives an estimate of your total body fat. You can use the NHLBI's online BMI calculator to figure out your BMI, or your doctor can help you.

To measure your waist, stand and place a tape measure around your middle, just above your hipbones. Measure your waist just after you breathe out. Make sure the tape is snug but doesn't squeeze the flesh.

For more information about losing weight or maintaining a healthy weight, go to the NHLBI's Aim for a Healthy Weight Web site.

Stress and Depression

Research shows that getting upset or angry can trigger a heart attack. Also, some of the ways people cope with stresssuch as drinking, smoking, or overeatingaren't heart healthy.

Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health.

Having supportive people in your life with whom you can share your feelings or concerns can help relieve stress. Physical activity, yoga, and relaxation therapy also can help relieve stress. You may want to consider taking part in a stress management program.

Depression can double or triple your risk for CHD. Depression also makes it hard to maintain a heart healthy lifestyle.

Talk with your doctor if you have symptoms of depression, such as feeling hopeless or not taking interest in daily activities. He or she may recommend counseling or prescribe medicines to help you manage the condition.

Medicines

You may need medicines to treat CHD if lifestyle changes aren't enough. Medicines can help:

Reduce your heart's workload and relieve CHD symptoms

Decrease your chance of having a heart attack or dying suddenly

Lower your LDL cholesterol, blood pressure, and other CHD risk factors

Prevent blood clots

Prevent or delay the need for a procedure or surgery, such asangioplasty (AN-jee-oh-plas-tee) or coronary artery bypass grafting (CABG)

Women who havecoronary microvascular disease and anemiamay benefit from taking medicine to treat the anemia.

Women who have broken heart syndrome also may need medicines. Doctors may prescribe medicines to relieve fluid buildup, treat blood pressure problems, prevent blood clots, and manage stress hormones. Most people who have broken heart syndrome make a full recovery within weeks.

Take all of your medicines as prescribed. If you have side effects or other problems related to your medicines, tell your doctor. He or she may be able to provide other options.

Menopausal Hormone Therapy

Recent studies have shown that menopausal hormone therapy (MHT) doesn't prevent CHD. Some studies have even shown that MHT increases women's risk for CHD, stroke, and breast cancer.

However, these studies tested MHT on women who had been postmenopausal for at least several years. During that time, they could have already developed CHD.

Research is ongoing to see whether MHT helps prevent CHD when taken right when menopause starts. While questions remain, current findings suggest MHT shouldn't routinely be used to prevent or treat CHD.

Ask your doctor about other ways to prevent or treat CHD, including lifestyle changes and medicines. For more information about MHT, go to the NHLBI's Postmenopausal Hormone Therapy Web site.

Procedures and Surgery

You may need a procedure or surgery to treat CHD. Both angioplasty and CABG are used as treatments. You and your doctor can discuss which treatment is right for you.

Percutaneous Coronary Intervention

Percutaneous coronary intervention (PCI), commonly known as angioplasty (AN-jee-oh-plas-tee), is a nonsurgical procedure that opens blocked or narrowed coronary arteries.

A thin, flexible tube with a balloon or other device on the end is threaded through a blood vessel to the narrowed or blocked coronary artery. Once in place, the balloon is inflated to compress the plaque against the wall of the artery. This restores blood flow through the artery.

PCI can improve blood flow to your heart and relieve chest pain. A small mesh tube called a stent usually is placed in the artery to help keep it open after the procedure.

For more information, go to the Health Topics PCI article.

Coronary Artery Bypass Grafting

CABG is a type of surgery. During CABG, a surgeon removes arteries or veins from other areas in your body and uses them to bypass (that is, go around) narrowed or blocked coronary arteries.

CABG can improve blood flow to your heart, relieve chest pain, and possibly prevent a heart attack.

For more information, go to the Health Topics Coronary Artery Bypass Grafting article.

Cardiac Rehabilitation

Your doctor may prescribe cardiac rehab foranginaor after angioplasty, CABG, or a heart attack. Almost everyone who has CHD can benefit from cardiac rehab.

Cardiac rehab is a medically supervised program that can improve the health and well-being of people who have heart problems.

The cardiac rehab team may include doctors, nurses, exercise specialists, physical and occupational therapists, dietitians or nutritionists, and psychologists or other mental health specialists.

Cardiac rehab has two parts:

Exercise training. This part of rehab helps you learn how to exercise safely, strengthen your muscles, and improve your stamina. Your exercise plan will be based on your personal abilities, needs, and interests.

Education, counseling, and training. This part of rehab helps you understand your heart condition and find ways to lower your risk for future heart problems. The rehab team will help you learn how to cope with the stress of adjusting to a new lifestyle and with your fears about the future.

For more information, go to the Health Topics Cardiac Rehabilitation article.


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[User] What are the symptoms of Macular dystrophy, concentric annular ?

[Assistant] What are the signs and symptoms of Macular dystrophy, concentric annular? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, concentric annular. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dyschromatopsia - Foveal hyperpigmentation - Macular dystrophy - 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] Is Prader-Willi syndrome inherited ?

[Assistant] Is Prader-Willi syndrome inherited? Most cases of Prader-Willi syndrome (PWS) are not inherited and are due to random events during the formation of egg or sperm cells, or in early fetal development. This is usually the case when PWS is caused by a deletion in the paternal chromosome 15, or by maternal uniparental disomy. However in rare cases, a genetic change responsible for PWS can be inherited. The risk to family members of a person with PWS depends on the genetic cause of the condition in the affected person. Because the various genetic causes of PWS are complex, people seeking information about specific risks to themselves or family members are encouraged to speak with a genetics professional. More information about the causes of PWS can be viewed on our Web site here.


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[User] What are the symptoms of Harlequin ichthyosis ?

[Assistant] What are the signs and symptoms of Harlequin ichthyosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Harlequin ichthyosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelid 90% Depressed nasal ridge 90% Hearing abnormality 90% Hyperkeratosis 90% Recurrent respiratory infections 90% Abnormality of the mouth 50% Limitation of joint mobility 50% Cataract 7.5% Dehydration 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Malignant hyperthermia 7.5% Respiratory insufficiency 7.5% Self-injurious behavior 7.5% Sudden cardiac death 7.5% Autosomal recessive inheritance - Congenital ichthyosiform erythroderma - Ectropion - Premature birth - Proptosis - Rigidity - Short finger - 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 Partial agenesis of corpus callosum ?

[Assistant] What are the signs and symptoms of Partial agenesis of corpus callosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Partial agenesis of corpus callosum. 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) Cognitive impairment 90% Seizures 90% Hypertonia 50% Microcephaly 50% Muscle weakness 50% Aganglionic megacolon 7.5% Abnormal facial shape - Cerebellar hypoplasia - Hydrocephalus - Inferior vermis hypoplasia - Intellectual disability - Partial agenesis of the corpus callosum - Spasticity - 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 symptoms of Miles-Carpenter x-linked mental retardation syndrome ?

[Assistant] What are the signs and symptoms of Miles-Carpenter x-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miles-Carpenter x-linked mental retardation 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 dermatoglyphics 90% Strabismus 90% Abnormality of the genital system 50% Cognitive impairment 50% Decreased body weight 50% Facial asymmetry 50% Joint hypermobility 50% Microcornea 50% Talipes 50% Abnormality of the skin - Congenital contracture - Distal amyotrophy - Exotropia - Intellectual disability - Microcephaly - 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 is (are) ophthalmo-acromelic syndrome ?

[Assistant] Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma).  The most common hand and foot malformation seen in ophthalmo-acromelic syndrome is missing fingers or toes (oligodactyly). Other frequent malformations include fingers or toes that are fused together (syndactyly) or extra fingers or toes (polydactyly). These skeletal malformations are often described as acromelic, meaning that they occur in the bones that are away from the center of the body. Additional skeletal abnormalities involving the long bones of the arms and legs or the spinal bones (vertebrae) can also occur. Affected individuals may have distinctive facial features, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), or intellectual disability.


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[User] What is (are) Thrombotic Thrombocytopenic Purpura ?

[Assistant]
Thrombotic thrombocytopenic purpura (TTP) is a rare blood disorder. In TTP, blood clots form in small blood vessels throughout the body.

The clots can limit or block the flow of oxygen-rich blood to the body's organs, such as the brain, kidneys, and heart. As a result, serious health problems can develop.

The increased clotting that occurs in TTP also uses up platelets (PLATE-lets) in the blood. Platelets are blood cell fragments that help form blood clots. These cell fragments stick together to seal small cuts and breaks on blood vessel walls and stop bleeding.

With fewer platelets available in the blood, bleeding problems can occur. People who have TTP may bleed inside their bodies, underneath the skin, or from the surface of the skin. When cut or injured, they also may bleed longer than normal.

"Thrombotic" (throm-BOT-ik) refers to the blood clots that form. "Thrombocytopenic" (throm-bo-cy-toe-PEE-nick) means the blood has a lower than normal number of platelets. "Purpura" (PURR-purr-ah) refers to purple bruises caused by bleeding under the skin.

Bleeding under the skin also can cause tiny red or purple dots on the skin. These pinpoint-sized dots are called petechiae (peh-TEE-kee-ay). Petechiae may look like a rash.

Purpura and Petechiae

TTP also can cause red blood cells to break apart faster than the body can replace them. This leads to hemolytic anemia (HEE-moh-lit-ick uh-NEE-me-uh)a rare form of anemia. Anemia is a condition in which the body has a lower than normal number of red blood cells.

A lack of activity in the ADAMTS13 enzyme (a type of protein in the blood) causes TTP. The ADAMTS13 gene controls the enzyme, which is involved in blood clotting. The enzyme breaks up a large protein called von Willebrand factor that clumps together with platelets to form blood clots.

Types of Thrombotic Thrombocytopenic Purpura

The two main types of TTP are inherited and acquired. "Inherited" means the condition is passed from parents to children through genes. This type of TTP mainly affects newborns and children.

In inherited TTP, the ADAMTS13 gene is faulty and doesn't prompt the body to make a normal ADAMTS13 enzyme. As a result, enzyme activity is lacking or changed.

Acquired TTP is the more common type of the disorder. "Acquired" means you aren't born with the disorder, but you develop it. This type of TTP mostly occurs in adults, but it can affect children.

In acquired TTP, the ADAMTS13 gene isn't faulty. Instead, the body makes antibodies (proteins) that block the activity of the ADAMTS13 enzyme.

It's not clear what triggers inherited and acquired TTP, but some factors may play a role. These factors may include:

Some diseases and conditions, such as pregnancy, cancer, HIV, lupus, and infections

Some medical procedures, such as surgery and blood and marrow stem cell transplant

Some medicines, such as chemotherapy, ticlopidine, clopidogrel, cyclosporine A, and hormone therapy and estrogens

Quinine, which is a substance often found in tonic water and nutritional health products

If you have TTP, you may sometimes hear it referred to as TTPHUS. HUS, or hemolytic-uremic syndrome, is a disorder that resembles TTP, but is more common in children. Kidney problems also tend to be worse in HUS. Although some researchers think TTP and HUS are two forms of a single syndrome, recent evidence suggests that each has different causes.

Outlook

TTP is a rare disorder. It can be fatal or cause lasting damage, such as brain damage or a stroke, if it's not treated right away.

TTP usually occurs suddenly and lasts for days or weeks, but it can continue for months. Relapses (or flareups) can occur in up to 60 percent of people who have the acquired type of TTP. Many people who have inherited TTP have frequent flareups that need to be treated.

Treatments for TTP include infusions of fresh frozen plasma and plasma exchange, also called plasmapheresis (PLAZ-ma-feh-RE-sis). These treatments have greatly improved the outlook of the disorder.


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[User] What are the treatments for Familial hemiplegic migraine type 2 ?

[Assistant] How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. Prophylactic management is applied to patients with frequent, long lasting, or severe attacks. Examples of migraine drugs that have been tried with variable success in people with hemiplegic migraine, include oral verapamil, acetazolamide, lamotrigine. There are a few articles describing the use of nasal administration of ketamine, intravenous verapamil, and triptans for treatment of aura in people with hemiplegic migraine. Use of triptans in hemiplegic migraine is controversial and may be contraindicated in people with severe attacks. For further information on these and other treatments, we recommend that you speak with your healthcare provider.


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[User] What are the symptoms of Osteoarthritis ?

[Assistant] Pain and Stiffness in Joints Different types of arthritis have different symptoms. In general, people with most forms of arthritis have pain and stiffness in their joints. Osteoarthritis usually develops slowly and can occur in any joint, but often occurs in weight-bearing joints. Early in the disease, joints may ache after physical work or exercise. Most often, osteoarthritis occurs in the hands, hips, knees, neck, or low back. Common Signs Common signs of osteoarthritis include - joint pain, swelling, and tenderness  - stiffness after getting out of bed  - a crunching feeling or sound of bone rubbing on bone. joint pain, swelling, and tenderness stiffness after getting out of bed a crunching feeling or sound of bone rubbing on bone. Not everyone with osteoarthritis feels pain, however. In fact, only a third of people with x-ray evidence of osteoarthritis report pain or other symptoms. Diagnosis To make a diagnosis of osteoarthritis, most doctors use a combination of methods and tests including a medical history, a physical examination, x-rays, and laboratory tests. - A medical history is the patient's description of symptoms and when and how they began. The description covers pain, stiffness, and joint function, and how these have changed over time.   - A physical examination includes the doctor's examination of the joints, skin, reflexes, and muscle strength. The doctor observes the patient's ability to walk, bend, and carry out activities of daily living.  - X-rays are limited in their capacity to reveal how much joint damage may have occurred in osteoarthritis. X-rays usually don't show osteoarthritis damage until there has been a significant loss of cartilage.  A medical history is the patient's description of symptoms and when and how they began. The description covers pain, stiffness, and joint function, and how these have changed over time. A physical examination includes the doctor's examination of the joints, skin, reflexes, and muscle strength. The doctor observes the patient's ability to walk, bend, and carry out activities of daily living. X-rays are limited in their capacity to reveal how much joint damage may have occurred in osteoarthritis. X-rays usually don't show osteoarthritis damage until there has been a significant loss of cartilage. Questions Your Doctor May Ask It is important for people with joint pain to give the doctor a complete medical history. Answering these questions will help your doctor make an accurate diagnosis: - Is the pain in one or more joints?  - When does the pain occur and how long does it last?  - When did you first notice the pain?  - Does activity make the pain better or worse?  - Have you had any illnesses or accidents that may account for the pain?  - Is there a family history of any arthritis or rheumatic diseases?  - What medicines are you taking? Is the pain in one or more joints? When does the pain occur and how long does it last? When did you first notice the pain? Does activity make the pain better or worse? Have you had any illnesses or accidents that may account for the pain? Is there a family history of any arthritis or rheumatic diseases? What medicines are you taking? A patient's attitudes, daily activities, and levels of anxiety or depression have a lot to do with how severe the symptoms of osteoarthritis may be. Who Can Provide Care Treating arthritis often requires a multidisciplinary or team approach. Many types of health professionals care for people with arthritis. You may choose a few or more of the following professionals to be part of your health care team. - Primary care physicians -- doctors who treat patients before they are referred to other specialists in the health care system. Often a primary care physician will be the main doctor to treat your arthritis. Primary care physicians also handle other medical problems and coordinate the care you receive from other physicians and health care providers. Primary care physicians -- doctors who treat patients before they are referred to other specialists in the health care system. Often a primary care physician will be the main doctor to treat your arthritis. Primary care physicians also handle other medical problems and coordinate the care you receive from other physicians and health care providers. - Rheumatologists  -- doctors who specialize in treating arthritis and related conditions that affect joints, muscles, and bones. Rheumatologists  -- doctors who specialize in treating arthritis and related conditions that affect joints, muscles, and bones. - Orthopaedists  -- surgeons who specialize in the treatment of, and surgery for, bone and joint diseases. Orthopaedists  -- surgeons who specialize in the treatment of, and surgery for, bone and joint diseases. - Physical therapists  -- health professionals who work with patients to improve joint function. Physical therapists  -- health professionals who work with patients to improve joint function. - Occupational therapists  -- health professionals who teach ways to protect joints, minimize pain, perform activities of daily living, and conserve energy. Occupational therapists  -- health professionals who teach ways to protect joints, minimize pain, perform activities of daily living, and conserve energy. - Dietitians -- health professionals who teach ways to use a good diet to improve health and maintain a healthy weight. Dietitians -- health professionals who teach ways to use a good diet to improve health and maintain a healthy weight. - Nurse educators  -- nurses who specialize in helping patients understand their overall condition and implement their treatment plans. Nurse educators  -- nurses who specialize in helping patients understand their overall condition and implement their treatment plans. - Physiatrists (rehabilitation specialists) -- medical doctors who help patients make the most of their physical potential.  Physiatrists (rehabilitation specialists) -- medical doctors who help patients make the most of their physical potential. - Licensed acupuncture therapists  -- health professionals who reduce pain and improve physical functioning by inserting fine needles into the skin at specific points on the body. Licensed acupuncture therapists  -- health professionals who reduce pain and improve physical functioning by inserting fine needles into the skin at specific points on the body. - Psychologists  -- health professionals who seek to help patients cope with difficulties in the home and workplace resulting from their medical conditions. Psychologists  -- health professionals who seek to help patients cope with difficulties in the home and workplace resulting from their medical conditions. - Social workers -- professionals who assist patients with social challenges caused by disability, unemployment, financial hardships, home health care, and other needs resulting from their medical conditions. Social workers -- professionals who assist patients with social challenges caused by disability, unemployment, financial hardships, home health care, and other needs resulting from their medical conditions. - Chiropractors  -- health professionals who focus treatment on the relationship between the body's structure -- mainly the spine -- and its functioning. Chiropractors  -- health professionals who focus treatment on the relationship between the body's structure -- mainly the spine -- and its functioning. - Massage therapists  -- health professionals who press, rub, and otherwise manipulate the muscles and other soft tissues of the body. They most often use their hands and fingers, but may use their forearms, elbows, or feet. Massage therapists  -- health professionals who press, rub, and otherwise manipulate the muscles and other soft tissues of the body. They most often use their hands and fingers, but may use their forearms, elbows, or feet.


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[User] What are the symptoms of Optic atrophy 2 ?

[Assistant] What are the signs and symptoms of Optic atrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent Achilles reflex - Babinski sign - Dysarthria - Dysdiadochokinesis - Hyperactive patellar reflex - Intellectual disability - Optic atrophy - Tremor - 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 genetic changes related to Axenfeld-Rieger syndrome ?

[Assistant] Axenfeld-Rieger syndrome results from mutations in at least two known genes, PITX2 and FOXC1. PITX2 gene mutations cause type 1, and FOXC1 gene mutations cause type 3. The gene associated with type 2 is likely located on chromosome 13, but it has not been identified. The proteins produced from the PITX2 and FOXC1 genes are transcription factors, which means they attach (bind) to DNA and help control the activity of other genes. These transcription factors are active before birth in the developing eye and in other parts of the body. They appear to play important roles in embryonic development, particularly in the formation of structures in the anterior segment of the eye.  Mutations in either the PITX2 or FOXC1 gene disrupt the activity of other genes that are needed for normal development. Impaired regulation of these genes leads to problems in the formation of the anterior segment of the eye and other parts of the body. These developmental abnormalities underlie the characteristic features of Axenfeld-Rieger syndrome. Affected individuals with PITX2 gene mutations are more likely than those with FOXC1 gene mutations to have abnormalities affecting parts of the body other than the eye.  Some people with Axenfeld-Rieger syndrome do not have identified mutations in the PITX2 or FOXC1 genes. In these individuals, the cause of the condition is unknown. Other as-yet-unidentified genes may also cause Axenfeld-Rieger syndrome.


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[User] What are the genetic changes related to REN-related kidney disease ?

[Assistant] Mutations in the REN gene cause REN-related kidney disease. This gene provides instructions for making a protein called renin that is produced in the kidneys. Renin plays an important role in regulating blood pressure and water levels in the body.  Mutations in the REN gene that cause REN-related kidney disease result in the production of an abnormal protein that is toxic to the cells that normally produce renin. These kidney cells gradually die off, which causes progressive kidney disease.


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[User] What are the genetic changes related to familial male-limited precocious puberty ?

[Assistant] Familial male-limited precocious puberty can be caused by mutations in the LHCGR gene. This gene provides instructions for making a receptor protein called the luteinizing hormone/chorionic gonadotropin receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function.  The protein produced from the LHCGR gene acts as a receptor for two ligands: luteinizing hormone and a similar hormone called chorionic gonadotropin. The receptor allows the body to respond appropriately to these hormones. In males, chorionic gonadotropin stimulates the development of cells in the testes called Leydig cells, and luteinizing hormone triggers these cells to produce androgens. Androgens, including testosterone, are the hormones that control male sexual development and reproduction. In females, luteinizing hormone triggers the release of egg cells from the ovaries (ovulation); chorionic gonadotropin is produced during pregnancy and helps maintain conditions necessary for the pregnancy to continue.  Certain LHCGR gene mutations result in a receptor protein that is constantly turned on (constitutively activated), even when not attached (bound) to luteinizing hormone or chorionic gonadotropin. In males, the overactive receptor causes excess production of testosterone, which triggers male sexual development and lead to early puberty in affected individuals. The overactive receptor has no apparent effect on females.  Approximately 18 percent of individuals with familial male-limited precocious puberty have no identified LHCGR gene mutation. In these individuals, the cause of the disorder is unknown.


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[User] How to diagnose Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ?

[Assistant]
Tests that examine the brain and spinal cord are used to detect (find) CNS atypical teratoid/rhabdoid tumor. The following tests and procedures may be used:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken.    -   Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam.     -   MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain and spinal cord. This procedure is also called nuclear magnetic resonance imaging (NMRI).    -   Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of fluid. The sample of CSF is checked under a microscope for signs of tumor cells. The sample may also be checked for the amounts of protein and glucose. A higher than normal amount of protein or lower than normal amount of glucose may be a sign of a tumor. This procedure is also called an LP or spinal tap.    -   SMARCB1 and SMARCA4 gene testing: A laboratory test in which a sample of blood or tissue is tested for the SMARCB1 and SMARCA4 genes.
                    Childhood atypical teratoid/rhabdoid tumor is diagnosed and may be removed in surgery. If doctors think there might be a brain tumor, a biopsy may be done to remove a sample of tissue. For tumors in the brain, the biopsy is done by removing part of the skull and using a needle to remove a sample of tissue. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor may remove as much tumor as safely possible during the same surgery. The pathologist checks the cancer cells to find out the type of brain tumor. It is often difficult to completely remove AT/RT because of where the tumor is in the brain and because it may already have spread at the time of diagnosis.      The following test may be done on the sample of tissue that is removed:         -   Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This test is used to tell the difference between AT/RT and other brain tumors.


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[User] What are the treatments for Coats disease ?

[Assistant] How might Coats disease be treated? The treatment of Coats disease depends on the signs and symptoms present in each person. Treatment is usually directed towards destroying affected blood vessels in the retina and salvaging as much vision as possible. A procedure that uses extreme cold to destroy abnormal blood vessels (cryotherapy), and/or a procedure that uses laser energy to heat and destroy abnormal tissue (photocoagulation) are often used singly or in combination. These procedures are typically used during the early stages of the disease along with steroids and other medications to control inflammation and leaking from blood vessels. More advanced cases may require surgical treatment. For example, surgery to reattach the retina may be necessary in cases of retinal detachment. Draining or surgically removing the fluids that fill the eyeball between the lens and the retina (vitrectomy) may also be used to treat Coats disease when retinal detachment is present.


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[User] How to diagnose TARP syndrome ?

[Assistant] Is genetic testing available for TARP syndrome? Yes, genetic testing (including carrier testing) is available for TARP syndrome. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. On the GTR Web site, click on the title "Test for TARP syndrome" to find out more information about each test. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.


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[User] What are the symptoms of Long QT syndrome 1 ?

[Assistant] What are the signs and symptoms of Long QT syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ear - Autosomal dominant inheritance - Heterogeneous - Prolonged QT interval - Sudden cardiac death - Syncope - Torsade de pointes - Ventricular fibrillation - 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) 15q11.2 microdeletion ?

[Assistant] 15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language delays; behavior and emotional problems; attention deficit disorders; and autism spectrum disorder. Other features may include birth defects and seizures. However, some people have no apparent physical, learning, or behavior problems. A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent. Treatment depends on the signs and symptoms in each person.


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[User] What are the symptoms of Keutel syndrome ?

[Assistant] What are the signs and symptoms of Keutel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Keutel 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) Calcification of cartilage 90% Depressed nasal bridge 90% Long face 90% Malar flattening 90% Short distal phalanx of finger 90% Tracheal stenosis 90% Abnormality of the voice 50% Chondrocalcinosis 50% Cognitive impairment 50% Hearing impairment 50% Otitis media 50% Pulmonary hypertension 50% Recurrent respiratory infections 50% Sinusitis 50% Sloping forehead 50% Underdeveloped nasal alae 50% Ventricular septal defect 50% Alopecia 7.5% Aplasia/Hypoplasia of the skin 7.5% Cutis laxa 7.5% Optic atrophy 7.5% Seizures 7.5% Short stature 7.5% Autosomal recessive inheritance - Calcification of the auricular cartilage - Cartilaginous ossification of larynx - Cartilaginous ossification of nose - Cerebral calcification - Chronic sinusitis - Costal cartilage calcification - Deep philtrum - Epiphyseal stippling - Growth abnormality - Hypoplasia of midface - Intellectual disability, mild - Macrotia - Nasal speech - Peripheral pulmonary artery stenosis - Premature fusion of phalangeal epiphyses - Pulmonary artery hypoplasia - Pulmonic stenosis - Recurrent bronchitis - Recurrent otitis media - Short hallux - Short thumb - Spontaneous abortion - 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] How many people are affected by systemic lupus erythematosus ?

[Assistant] For unknown reasons, in industrialized Western countries SLE has become 10 times more common over the past 50 years. While estimates of its prevalence vary, SLE is believed to affect 14.6 to 68 per 100,000 people in the United States, with females developing SLE more often than males. It is most common in younger women; however, 20 percent of SLE cases occur in people over age 50. Because many of the signs and symptoms of SLE resemble those of other disorders, diagnosis may be delayed for years, and the condition may never be diagnosed in some affected individuals.  In industrialized Western countries, people of African and Asian descent are two to four times more likely to develop SLE than are people of European descent. However, while the prevalence of SLE in Africa and Asia is unknown, it is believed to be much lower than in Western nations. Researchers suggest that factors such as ethnic mixing, tobacco use in industrialized countries, and the different types of infections people acquire in different regions may help account for the discrepancy. For example malaria, which occurs often in tropical regions, is thought to be protective against SLE, while the Epstein-Barr virus, more common in the West, increases SLE risk.


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[User] Do you have information about Childhood Immunization

[Assistant] Summary : Today, children in the United States routinely get vaccines that protect them from more than a dozen diseases such as measles, polio, tetanus, diphtheria, and pertussis (whooping cough). Most of these diseases are now at their lowest levels in history, thanks to years of immunization. Children must get at least some vaccines before they may attend school.    Vaccines help make you immune to serious diseases without getting sick first. Without a vaccine, you must actually get a disease in order to become immune to the germ that causes it. Vaccines work best when they are given at certain ages. For example, children don't receive measles vaccine until they are at least one year old. If it is given earlier it might not work as well. The Centers for Disease Control and Prevention publishes a schedule for childhood vaccines.    Although some of the vaccines you receive as a child provide protection for many years, adults need immunizations too.    Centers for Disease Control and Prevention


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[User] What is (are) nonsyndromic aplasia cutis congenita ?

[Assistant] Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped.  Most affected babies have a single lesion. The lesions vary in size and can be differently shaped: some are round or oval, others rectangular, and still others star-shaped. They usually leave a scar after they heal. When the scalp is involved, there may be an absence of hair growth (alopecia) in the affected area.  When the underlying bone and other tissues are involved, affected individuals are at higher risk of infections. If these severe defects occur on the head, the membrane that covers the brain (the dura mater) may be exposed, and life-threatening bleeding may occur from nearby vessels.  Skin lesions are typically the only feature of nonsyndromic aplasia cutis congenita, although other skin problems and abnormalities of the bones and other tissues occur rarely. However, the characteristic skin lesions can occur as one of many symptoms in other conditions, including Johanson-Blizzard syndrome and Adams-Oliver syndrome. These instances are described as syndromic aplasia cutis congenita.


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[User] What is (are) Ovarian Cysts ?

[Assistant] A cyst is a fluid-filled sac. In most cases a cyst on the ovary does no harm and goes away by itself. Most women have them sometime during their lives. Cysts are rarely cancerous in women under 50. Cysts sometimes hurt - but not always. Often, a woman finds out about a cyst when she has a pelvic exam.     If you're in your childbearing years or past menopause, have no symptoms, and have a fluid-filled cyst, you may choose to monitor the cyst. You may need surgery if you have pain, are past menopause or if the cyst does not go away. Birth control pills can help prevent new cysts.    A health problem that may involve ovarian cysts is polycystic ovary syndrome (PCOS). Women with PCOS can have high levels of male hormones, irregular or no periods and small ovarian cysts.    Dept. of Health and Human Services Office on Women's Health


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[User] How many people are affected by SYNGAP1-related intellectual disability ?

[Assistant] SYNGAP1-related intellectual disability is a relatively common form of cognitive impairment. It is estimated to account for 1 to 2 percent of intellectual disability cases.


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[User] What is (are) Rabies ?

[Assistant] Rabies is a deadly animal disease caused by a virus. It can happen in wild animals, including raccoons, skunks, bats and foxes, or in dogs, cats or farm animals. People get it from the bite of an infected animal.     In people, symptoms of rabies include fever, headache and fatigue, then confusion, hallucinations and paralysis. Once the symptoms begin, the disease is usually fatal. A series of shots can prevent rabies in people exposed to the virus. You need to get them right away. If an animal bites you, wash the wound well; then get medical care.     To help prevent rabies       -  Vaccinate your pet. Rabies vaccines are available for dogs, cats and farm animals    -  Don't let pets roam    -  Don't approach stray animals. Animals with rabies might be aggressive and vicious, or tired and weak       Centers for Disease Control and Prevention


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[User] What is (are) Paralysis ?

[Assistant] Paralysis is the loss of muscle function in part of your body. It happens when something goes wrong with the way messages pass between your brain and muscles. Paralysis can be complete or partial. It can occur on one or both sides of your body. It can also occur in just one area, or it can be widespread. Paralysis of the lower half of your body, including both legs, is called paraplegia. Paralysis of the arms and legs is quadriplegia.     Most paralysis is due to strokes or injuries such as spinal cord injury or a broken neck. Other causes of paralysis include       - Nerve diseases such as amyotrophic lateral sclerosis    -  Autoimmune diseases such as Guillain-Barre syndrome    -  Bell's palsy, which affects muscles in the face       Polio used to be a cause of paralysis, but polio no longer occurs in the U.S.