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

[User] What is (are) PRICKLE1-related progressive myoclonus epilepsy with ataxia ?

[Assistant] PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare inherited condition characterized by recurrent seizures (epilepsy) and problems with movement. The signs and symptoms of this disorder usually begin between the ages of 5 and 10.  Problems with balance and coordination (ataxia) are usually the first symptoms of PRICKLE1-related progressive myoclonus epilepsy with ataxia. Affected children often have trouble walking. Their gait is unbalanced and wide-based, and they may fall frequently. Later, children with this condition develop episodes of involuntary muscle jerking or twitching (myoclonus), which cause additional problems with movement. Myoclonus can also affect muscles in the face, leading to difficulty swallowing and slurred speech (dysarthria).  Beginning later in childhood, some affected individuals develop tonic-clonic or grand mal seizures. These seizures involve a loss of consciousness, muscle rigidity, and convulsions. They often occur at night (nocturnally) while the person is sleeping.  PRICKLE1-related progressive myoclonus epilepsy with ataxia does not seem to affect intellectual ability. Although a few affected individuals have died in childhood, many have lived into adulthood.


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[User] What is (are) heterotaxy syndrome ?

[Assistant] Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term "heterotaxy" is from the Greek words "heteros," meaning "other than," and "taxis," meaning "arrangement." Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs.  In the normal body, most of the organs in the chest and abdomen have a particular location on the right or left side. For example, the heart, spleen, and pancreas are on the left side of the body, and most of the liver is on the right. This normal arrangement of the organs is known as "situs solitus." Rarely, the orientation of the internal organs is completely flipped from right to left, a situation known as "situs inversus." This mirror-image orientation usually does not cause any health problems, unless it occurs as part of a syndrome affecting other parts of the body. Heterotaxy syndrome is an arrangement of internal organs somewhere between situs solitus and situs inversus; this condition is also known as "situs ambiguus." Unlike situs inversus, the abnormal arrangement of organs in heterotaxy syndrome often causes serious health problems.  Heterotaxy syndrome alters the structure of the heart, including the attachment of the large blood vessels that carry blood to and from the rest of the body. It can also affect the structure of the lungs, such as the number of lobes in each lung and the length of the tubes (called bronchi) that lead from the windpipe to the lungs. In the abdomen, the condition can cause a person to have no spleen (asplenia) or multiple small, poorly functioning spleens (polysplenia). The liver may lie across the middle of the body instead of being in its normal position to the right of the stomach. Some affected individuals also have intestinal malrotation, which is an abnormal twisting of the intestines that occurs in the early stages of development before birth.  Depending on the organs involved, signs and symptoms of heterotaxy syndrome can include a bluish appearance of the skin or lips (cyanosis, which is due to a shortage of oxygen), breathing difficulties, an increased risk of infections, and problems with digesting food. The most serious complications are generally caused by critical congenital heart disease, a group of complex heart defects that are present from birth. Biliary atresia, a problem with the bile ducts in the liver, can also cause severe health problems in infancy. Heterotaxy syndrome is often life-threatening in infancy or childhood, even with treatment, although its severity depends on the specific abnormalities involved.


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

[Assistant] Whipple's disease is a multi-system infectious bacterial disease that interferes with the body's ability to metabolize fats. Caused by the bacterium Tropheryma whipplei, the disorder can affect any system in the body, including the brain, eyes, heart, joints, and lungs, but usually occurs in the gastrointestinal system. Neurological symptoms occur in up to 40 percent of individuals and may include dementia, abnormalities of eye and facial muscle movements, headaches, seizures, loss of muscle control, memory loss, weakness, and vision problems. Gastrointestinal symptoms may include diarrhea, weight loss, fatigue, weakness, and abdominal bleeding and pain. Fever, cough, anemia, heart and lung damage, darkening of the skin, and joint soreness may also be present. The disease is more common in men and neurological symptoms are more common in individuals who have severe abdominal disease, Rarely, neurological symptoms may appear without gastrointestinal symptoms and can mimic symptoms of almost any neurologic disease..


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[User] What causes Cardiogenic Shock ?

[Assistant]
Immediate Causes

Cardiogenic shock occurs if the heart suddenly can't pump enough oxygen-rich blood to the body. The most common cause of cardiogenic shock is damage to the heart muscle from a severe heart attack.

This damage prevents the hearts main pumping chamber, the left ventricle (VEN-trih-kul), from working well. As a result, the heart can't pump enough oxygen-rich blood to the rest of the body.

In about 3 percent of cardiogenic shock cases, the hearts lower right chamber, the right ventricle, doesnt work well. This means the heart can't properly pump blood to the lungs, where it picks up oxygen to bring back to the heart and the rest of the body.

Without enough oxygen-rich blood reaching the bodys major organs, many problems can occur. For example:

Cardiogenic shock can cause death if the flow of oxygen-rich blood to the organs isn't restored quickly. This is why emergency medical treatment is required.

If organs don't get enough oxygen-rich blood, they won't work well. Cells in the organs die, and the organs may never work well again.

As some organs stop working, they may cause problems with other bodily functions. This, in turn, can worsen shock. For example:   - If the kidneys aren't working well, the levels of important chemicals in the body change. This may cause the heart and other muscles to become even weaker, limiting blood flow even more.   - If the liver isn't working well, the body stops making proteins that help the blood clot. This can lead to more bleeding if the shock is due to blood loss.

If the kidneys aren't working well, the levels of important chemicals in the body change. This may cause the heart and other muscles to become even weaker, limiting blood flow even more.

If the liver isn't working well, the body stops making proteins that help the blood clot. This can lead to more bleeding if the shock is due to blood loss.

How well the brain, kidneys, and other organs recover will depend on how long a person is in shock. The less time a person is in shock, the less damage will occur to the organs. This is another reason why emergency treatment is so important.

Underlying Causes

The underlying causes of cardiogenic shock are conditions that weaken the heart and prevent it from pumping enough oxygen-rich blood to the body.

Heart Attack

Most heart attacks occur as a result of coronary heart disease (CHD). CHD is a condition in which a waxy substance called plaque (plak) narrows or blocks the coronary (heart) arteries.

Plaque reduces blood flow to your heart muscle. It also makes it more likely that blood clots will form in your arteries. Blood clots can partially or completely block blood flow.

Conditions Caused by Heart Attack

Heart attacks can cause some serious heart conditions that can lead to cardiogenic shock. One example is ventricular septal rupture. This condition occurs if the wall that separates the ventricles (the hearts two lower chambers) breaks down.

The breakdown happens because cells in the wall have died due to a heart attack. Without the wall to separate them, the ventricles cant pump properly.

Heart attacks also can cause papillary muscle infarction or rupture. This condition occurs if the muscles that help anchor the heart valves stop working or break because a heart attack cuts off their blood supply. If this happens, blood doesn't flow correctly between the hearts chambers. This prevents the heart from pumping properly.

Other Heart Conditions

Serious heart conditions that may occur with or without a heart attack can cause cardiogenic shock. Examples include:

Myocarditis (MI-o-kar-DI-tis). This is inflammation of the heart muscle.

Endocarditis (EN-do-kar-DI-tis). This is an infection of the inner lining of the heart chambers and valves.

Life-threatening arrhythmias (ah-RITH-me-ahs). These are problems with the rate or rhythm of the heartbeat.

Pericardial tamponade (per-ih-KAR-de-al tam-po-NADE). This is too much fluid or blood around the heart. The fluid squeezes the heart muscle so it can't pump properly.

Pulmonary Embolism

Pulmonary embolism (PE) is a sudden blockage in a lung artery. This condition usually is caused by a blood clot that travels to the lung from a vein in the leg. PE can damage your heart and other organs in your body.


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[User] What are the genetic changes related to sepiapterin reductase deficiency ?

[Assistant] Mutations in the SPR gene cause sepiapterin reductase deficiency. The SPR gene provides instructions for making the sepiapterin reductase enzyme. This enzyme is involved in the production of a molecule called tetrahydrobiopterin (also known as BH4). Specifically, sepiapterin reductase is responsible for the last step in the production of tetrahydrobiopterin. Tetrahydrobiopterin helps process several building blocks of proteins (amino acids), and is involved in the production of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain.  SPR gene mutations disrupt the production of sepiapterin reductase. Most SPR gene mutations result in an enzyme with little or no function. A nonfunctional sepiapterin reductase leads to a lack of tetrahydrobiopterin. In most parts of the body, there are alternate pathways that do not use sepiapterin reductase for the production of tetrahydrobiopterin, but these pathways are not found in the brain. Therefore, people with sepiapterin reductase deficiency have a lack of tetrahydrobiopterin in the brain. When no tetrahydrobiopterin is produced in the brain, production of dopamine and serotonin is greatly reduced. Among their many functions, dopamine transmits signals within the brain to produce smooth physical movements, and serotonin regulates mood, emotion, sleep, and appetite. The lack of these two neurotransmitters causes the problems with movement and other features of sepiapterin reductase deficiency.


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[User] What are the genetic changes related to isobutyryl-CoA dehydrogenase deficiency ?

[Assistant] Mutations in the ACAD8 gene cause IBD deficiency. This gene provides instructions for making the IBD enzyme, which is involved in breaking down valine. ACAD8 gene mutations reduce or eliminate the activity of the IBD enzyme. As a result, valine is not broken down properly. Impaired processing of valine may lead to reduced energy production and the features of IBD deficiency.


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[User] What are the treatments for Floating-Harbor syndrome ?

[Assistant] These resources address the diagnosis or management of Floating-Harbor syndrome:  - Gene Review: Gene Review: Floating-Harbor Syndrome  - Genetic Testing Registry: Floating-Harbor syndrome  - KidsHealth: Bone Age Study   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] Is Netherton syndrome 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 are the genetic changes related to hypermethioninemia ?

[Assistant] Mutations in the AHCY, GNMT, and MAT1A genes cause hypermethioninemia.  Inherited hypermethioninemia that is not associated with other metabolic disorders can be caused by shortages (deficiencies) in the enzymes that break down methionine. These enzymes are produced from the MAT1A, GNMT and AHCY genes. The reactions involved in metabolizing methionine help supply some of the amino acids needed for protein production. These reactions are also involved in transferring methyl groups, consisting of a carbon atom and three hydrogen atoms, from one molecule to another (transmethylation), which is important in many cellular processes.  The MAT1A gene provides instructions for producing the enzyme methionine adenosyltransferase. This enzyme converts methionine into a compound called S-adenosylmethionine, also known as AdoMet or SAMe. The GNMT gene provides instructions for making the enzyme glycine N-methyltransferase. This enzyme starts the next step in the process, converting AdoMet to a compound called S-adenosyl homocysteine, or AdoHcy. The AHCY gene provides instructions for producing the enzyme S-adenosylhomocysteine hydrolase. This enzyme converts the AdoHcy into the compound homocysteine. Homocysteine may be converted back to methionine or into another amino acid, cysteine.  A deficiency of any of these enzymes results in a buildup of methionine in the body, and may cause signs and symptoms related to hypermethioninemia.


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[User] What is (are) Tubular aggregate myopathy ?

[Assistant] Tubular aggregate myopathy is a very rare muscle disease where the presence of tubular aggregates represent the major, if not sole, pathologic change in the muscle cell.  It is often characterized by muscle weakness or stiffness, cramps, and exercise induced muscle fatigue. The exact cause of the condition is unknown. Sporadic and genetic forms have been reported. Some cases appear to be due to dominant mutations in the STIM1 gene.


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[User] How many people are affected by MECP2-related severe neonatal encephalopathy ?

[Assistant] MECP2-related severe neonatal encephalopathy is likely a rare condition. Twenty to 30 affected males have been reported in the scientific literature.


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[User] How many people are affected by Horner syndrome ?

[Assistant] About 1 in 6,250 babies are born with Horner syndrome. The incidence of Horner syndrome that appears later is unknown, but it is considered an uncommon disorder.


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[User] How many people are affected by multiple sulfatase deficiency ?

[Assistant] Multiple sulfatase deficiency is estimated to occur in 1 per million individuals worldwide. Approximately 50 cases have been reported in the scientific literature.


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[User] What are the treatments for cyclic vomiting syndrome ?

[Assistant] These resources address the diagnosis or management of cyclic vomiting syndrome:  - Children's Hospital of Wisconsin  - Genetic Testing Registry: Cyclical vomiting syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the symptoms of L-2-hydroxyglutaric aciduria ?

[Assistant] What are the signs and symptoms of L-2-hydroxyglutaric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for L-2-hydroxyglutaric aciduria. 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% Encephalitis 90% Seizures 90% Abnormality of extrapyramidal motor function 50% Aplasia/Hypoplasia of the cerebellum 50% Behavioral abnormality 50% Hypertonia 50% Macrocephaly 50% Muscular hypotonia 50% Neoplasm of the nervous system 50% Neurological speech impairment 7.5% Abnormal pyramidal signs - Autosomal recessive inheritance - Cerebellar atrophy - Corpus callosum atrophy - Developmental regression - Dysphasia - Gliosis - Global brain atrophy - Hearing impairment - Infantile onset - Intellectual disability, progressive - Intellectual disability, severe - L-2-hydroxyglutaric acidemia - L-2-hydroxyglutaric aciduria - Leukoencephalopathy - Morphological abnormality of the pyramidal tract - Nystagmus - Optic atrophy - Severe demyelination of the white matter - Spastic tetraparesis - Strabismus - 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 mucolipidosis II alpha/beta ?

[Assistant] Mutations in the GNPTAB gene cause mucolipidosis II alpha/beta. This gene provides instructions for making part of an enzyme called GlcNAc-1-phosphotransferase. This enzyme helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes to break down large molecules into smaller ones that can be reused by cells. GlcNAc-1-phosphotransferase is involved in the process of attaching a molecule called mannose-6-phosphate (M6P) to specific digestive enzymes. Just as luggage is tagged at the airport to direct it to the correct destination, enzymes are often "tagged" after they are made so they get to where they are needed in the cell. M6P acts as a tag that indicates a digestive enzyme should be transported to the lysosome.  Mutations in the GNPTAB gene that cause mucolipidosis II alpha/beta prevent the production of any functional GlcNAc-1-phosphotransferase. Without this enzyme, digestive enzymes cannot be tagged with M6P and transported to lysosomes. Instead, they end up outside the cell and have increased digestive activity. The lack of digestive enzymes within lysosomes causes large molecules to accumulate there. Conditions that cause molecules to build up inside lysosomes, including mucolipidosis II alpha/beta, are called lysosomal storage disorders. The signs and symptoms of mucolipidosis II alpha/beta are most likely caused by the lack of digestive enzymes within lysosomes and the effects these enzymes have outside the cell.  Mutations in the GNPTAB gene can also cause a similar but milder disorder called mucolipidosis III alpha/beta. Instead of preventing the production of any enzyme, these mutations reduce the activity of GlcNAc-1-phosphotransferase. Mucolipidosis III alpha/beta and mucolipidosis II alpha/beta represent two ends of a spectrum of disease severity.


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[User] What are the genetic changes related to 1p36 deletion syndrome ?

[Assistant] 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. The signs and symptoms of 1p36 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals.


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[User] What are the symptoms of Fragile X syndrome ?

[Assistant] What are the signs and symptoms of Fragile X syndrome? Fragile X syndrome is characterized by developmental problems including intellectual disability and delayed speech and language development. Males are usually more severely affected than females. Additional features may include anxiety; attention deficit disorder (ADD); features of autism spectrum disorders that affect communication and social interaction; and seizures. Most males and some females with fragile X syndrome have characteristic physical features that become more apparent with age. These features may include a long and narrow face; large ears; a prominent jaw and forehead; unusually flexible fingers; flat feet; and in males, enlarged testicles (macroorchidism) after puberty. The Human Phenotype Ontology provides the following list of signs and symptoms for Fragile X 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) Cognitive impairment 90% Joint hypermobility 90% Macroorchidism 90% Neurological speech impairment 90% Otitis media 90% Pes planus 90% Abnormality of the pinna 50% Attention deficit hyperactivity disorder 50% Frontal bossing 50% Intellectual disability, moderate 50% Long face 50% Macrocephaly 50% Mandibular prognathia 50% Muscular hypotonia 50% Narrow face 50% Sinusitis 50% Abnormality of the mitral valve 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Dilatation of the ascending aorta 7.5% Seizures 7.5% Self-injurious behavior 7.5% Strabismus 7.5% Abnormal head movements - Coarse facial features - Congenital macroorchidism - Folate-dependent fragile site at Xq28 - Hyperactivity - Incomplete penetrance - Joint laxity - Large forehead - Macroorchidism, postpubertal - Macrotia - Mitral valve prolapse - Pectus excavatum - Periventricular gray matter heterotopia - Poor eye contact - Scoliosis - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Anemia in Chronic Kidney Disease ?

[Assistant] Anemia is a condition in which the body has fewer red blood cells than normal. Red blood cells carry oxygen to tissues and organs throughout the body and enable them to use energy from food. With anemia, red blood cells carry less oxygen to tissues and organsparticularly the heart and brainand those tissues and organs may not function as well as they should.


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[User] What is (are) Multisystemic smooth muscle dysfunction syndrome ?

[Assistant] Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypoperistalsis). A certain  mutation in the ACTA2 gene has been shown to cause this condition in some individuals.


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[User] What is (are) Colpocephaly ?

[Assistant] Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.


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[User] What is (are) Fragile X syndrome ?

[Assistant] Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. This condition causes a range of developmental problems including learning disabilities and cognitive impairment. It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females. Other signs and symptoms may include symptoms of autism spectrum disorders, seizures, and characteristic physical features. Fragile X syndrome is caused by a change (mutation) in the FMR1 gene and is inherited in an X-linked dominant manner.


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[User] Is Brugada syndrome inherited ?

[Assistant] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.


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[User] What causes Bartter syndrome ?

[Assistant] What causes Bartter syndrome? Bartter syndrome may be caused by mutations in any one of several genes; the genetic cause in each case corresponds to the type of Bartter syndrome each affected individual has. Types I, II and IV typically result in the antenatal forms of Bartter syndrome (beginning before birth) while type III results in classical Bartter syndrome (usually beginning in early childhood). Type I results from mutations in the SLC12A1 gene; type II from mutations in the KCNJ1 gene; type III from mutations in the CLCNKB gene; and type IV from mutations in the BSND gene, or from a combination of mutations in the CLCNKA and CLCNKB genes. In some people with Bartter syndrome, the genetic cause of the disorder remains unknown; there may be other genes that cause the condition that have not yet been identified. All of these genes are essential for normal kidney function - they are involved in the kidneys' abilities to reabsorb salt. Abnormal changes in these genes impair these abilities, allowing for the loss of excess salt through the urine and also affecting the reabsorption of other things including potassium and calcium. The resulting imbalance of these in the body lead to the signs and symptoms of Bartter syndrome.


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[User] What are the symptoms of Warfarin sensitivity ?

[Assistant] What are the signs and symptoms of Warfarin sensitivity? The Human Phenotype Ontology provides the following list of signs and symptoms for Warfarin sensitivity. 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 blood and blood-forming tissues - Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the symptoms of Mevalonic aciduria ?

[Assistant] What are the signs and symptoms of Mevalonic aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for Mevalonic aciduria. 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) Cerebral cortical atrophy 90% Cognitive impairment 90% Delayed skeletal maturation 90% Dolichocephaly 90% Microcephaly 90% Muscular hypotonia 90% Seizures 90% Short stature 90% Splenomegaly 90% Triangular face 90% Blue sclerae 50% Cataract 50% Incoordination 50% Low-set, posteriorly rotated ears 50% Kyphoscoliosis 5% Aciduria - Agenesis of cerebellar vermis - Arthralgia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Diarrhea - Edema - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Failure to thrive - Fluctuating hepatomegaly - Fluctuating splenomegaly - Large fontanelles - Leukocytosis - Low-set ears - Lymphadenopathy - Morbilliform rash - Normocytic hypoplastic anemia - Nystagmus - Posteriorly rotated ears - Progressive cerebellar ataxia - Skin rash - Thrombocytopenia - Vomiting - 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 Metastatic Squamous Neck Cancer with Occult Primary ?

[Assistant] Signs and symptoms of metastatic squamous neck cancer with occult primary include a lump or pain in the neck or throat. Check with your doctor if you have a lump or pain in your neck or throat that doesn't go away. These and other signs and symptoms may be caused by metastatic squamous neck cancer with occult primary. Other conditions may cause the same signs and symptoms.


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[User] How to diagnose Diffuse idiopathic skeletal hyperostosis ?

[Assistant] How is diffuse idiopathic skeletal hyperostosis diagnosed? A diagnosis of diffuse idiopathic skeletal hyperostosis (DISH) is often suspected based on the presence of characteristic signs and symptoms. X-rays may then be ordered to confirm the diagnosis. In some cases, a computed tomography (CT scan) and/or magnetic resonance imaging (MRI) may also be ordered to rule out other conditions that cause similar features.


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[User] Do you have information about Radiation Emergencies

[Assistant] Summary : Radiation is a type of energy. People are exposed to small amounts of radiation every day from sources such as sunlight. A radiation emergency would involve larger amounts of radiation and could be caused by       -  Dirty bombs - a mix of explosives with radioactive powder    - Fallout from a nuclear bomb    -  Accidental release from a nuclear reactor or a nuclear weapons plant       A lot of radiation over a short period can cause burns or radiation sickness. If the exposure is large enough, it can cause premature aging or even death.    Although there are no guarantees of safety during a radiation emergency, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope.    Centers for Disease Control and Prevention


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[User] What are the treatments for What I need to know about Gestational Diabetes ?

[Assistant]
Treating gestational diabetes means taking steps to keep your blood glucose levels in a target range. Targets are numbers you aim for. Your doctor will help you set your targets. You will learn how to control your blood glucose using

- healthy eating  - physical activity  - insulin shots, if needed


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[User] What is (are) Globozoospermia ?

[Assistant] Globozoospermia is a rare form of male infertility. Men affected by this condition have abnormal sperm with a round (rather than oval) head and no acrosome (a cap-like covering which contains enzymes that break down the outer membrane of an egg cell). As a result of these abnormalities, the sperm are unable to fertilize an egg cell, leading to male factor infertility. Approximately 70% of men with globozoospermia have changes (mutations) in the DPY19L2 gene, which are inherited in an autosomal recessive manner. In the remaining cases, the underlying cause of the condition is unknown; however, researchers suspect that mutations in other genes likely cause globozoospermia. Although there is currently no cure for the condition, certain assisted reproductive technologies (ICSI combined with assisted egg cell activation, specifically) can help men affected by the condition conceive children.


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[User] What are the genetic changes related to warfarin sensitivity ?

[Assistant] Many genes are involved in the metabolism of warfarin and in determining the drug's effects in the body. Certain common changes (polymorphisms) in the CYP2C9 and VKORC1 genes account for 30 percent of the variation in warfarin metabolism due to genetic factors. Polymorphisms in other genes, some of which have not been identified, have a smaller effect on warfarin metabolism.  The CYP2C9 gene provides instructions for making an enzyme that breaks down compounds including steroids and fatty acids. The CYP2C9 enzyme also breaks down certain drugs, including warfarin. Several CYP2C9 gene polymorphisms can decrease the activity of the CYP2C9 enzyme and slow the body's metabolism of warfarin. As a result, the drug remains active in the body for a longer period of time, leading to warfarin sensitivity.  The VKORC1 gene provides instructions for making a vitamin K epoxide reductase enzyme. The VKORC1 enzyme helps turn on (activate) clotting proteins in the pathway that forms blood clots. Warfarin prevents (inhibits) the action of VKORC1 and slows the activation of clotting proteins and clot formation. Certain VKORC1 gene polymorphisms decrease the amount of functional VKORC1 enzyme available to help activate clotting proteins. Individuals develop warfarin sensitivity because less warfarin is needed to inhibit the VKORC1 enzyme, as there is less functional enzyme that needs to be suppressed.  While changes in specific genes, particularly CYP2C9 and VKORC1, affect how the body reacts to warfarin, many other factors, including gender, age, weight, diet, and other medications, also play a role in the body's interaction with this drug.


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[User] What are the treatments for Narcolepsy ?

[Assistant] How might narcolepsy be treated? There is currently no cure for narcolepsy, but some of the symptoms can be managed with medications and lifestyle changes. Most affected people improve if they maintain a regular sleep schedule, usually 7.5 to 8 hours of sleep per night. Scheduled naps during the day also may help. Other measures that may help include participating in an exercise program; receiving emotional support and career or vocational counseling; and avoiding high-risk behaviors such as alcohol and drug use, which may make symptoms worse. Common-sense measures should be taken to enhance sleep quality (such as avoiding heavy meals before bed time). Treatment with medications involves the use of central nervous system (CNS) stimulants. These medications help reduce daytime sleepiness and improve this symptom in 65-85% of affected people. Two types of antidepressant drugs (tricyclics, and selective serotonin and noradrenergic reuptake inhibitors) are effective in controlling cataplexy in many people. Sodium oxybate (a strong sedative taken during the night) may also be used to treat narcolepsy. You can view detailed information about the treatment of narcolepsy on Medscape's Web site.


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[User] What causes Joubert syndrome ?

[Assistant] What causes Joubert syndrome? Joubert syndrome and related disorders may be caused by changes (mutations) in any of many genes (some of which are unknown). The proteins made from these genes are either known, or thought, to affect cell structures called cilia. Cilia are projections on the cell surface that play a role in signaling. They are important for many cell types, including neurons, liver cells and kidney cells. Cilia also play a role in the senses such as sight, hearing, and smell. Mutations in the genes responsible for Joubert syndrome and related disorders cause problems with the structure and function of cilia, likely disrupting important signaling pathways during development. However, it is still unclear how specific developmental abnormalities result from these problems.


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[User] Is Poland syndrome inherited ?

[Assistant] Is Poland syndrome inherited? Poland syndrome is rarely inherited and generally sporadic. Sporadic refers to the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family. In the few reported familial cases, researchers suggest that the condition may have stemmed from an inherited susceptibility to events such as interruption of blood flow that may predispose a person to the anomaly (i.e., make a person more likely to develop the anomaly).


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[User] What is (are) Tooth Disorders ?

[Assistant] Your teeth are made of a hard, bonelike material. Inside the tooth are nerves and blood vessels. You need your teeth for many activities you may take for granted. These include eating, speaking and even smiling. But tooth disorders are nothing to smile about. They include problems such as cavities (also known as tooth decay), infections, and injuries.     The most familiar symptom of a tooth problem is a toothache. Others include worn-down or loose teeth. It's important that you see a dentist if you have any problems with your teeth. Fortunately, you can prevent many tooth disorders by taking care of your teeth and keeping them clean.


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[User] What is (are) Diabetes ?

[Assistant] Prediabetes means your blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. In 2012, about 86 million people in the U.S. had prediabetes, and 51% of those 65 or older had prediabetes. People with prediabetes are at an increased risk for developing type 2 diabetes and for heart disease and stroke. The good news is that if you have prediabetes, you can reduce your risk of getting type 2 diabetes. With modest weight loss and moderate physical activity, you can delay or prevent type 2 diabetes.  Learn more about prediabetes here.


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[User] Who is at risk for Gallstones? ?

[Assistant]
Certain people have a higher risk of developing gallstones than others:2

- Women are more likely to develop gallstones than men. Extra estrogen can increase cholesterol levels in bile and decrease gallbladder contractions, which may cause gallstones to form. Women may have extra estrogen due to pregnancy, hormone replacement therapy, or birth control pills.   - People over age 40 are more likely to develop gallstones than younger people.   - People with a family history of gallstones have a higher risk.   - American Indians have genetic factors that increase the amount of cholesterol in their bile. In fact, American Indians have the highest rate of gallstones in the United Statesalmost 65 percent of women and 30 percent of men have gallstones.   - Mexican Americans are at higher risk of developing gallstones.

Other factors that affect a persons risk of gallstones include2

- Obesity. People who are obese, especially women, have increased risk of developing gallstones. Obesity increases the amount of cholesterol in bile, which can cause stone formation.   - Rapid weight loss. As the body breaks down fat during prolonged fasting and rapid weight loss, the liver secretes extra cholesterol into bile. Rapid weight loss can also prevent the gallbladder from emptying properly. Low-calorie diets and bariatric surgerysurgery that limits the amount of food a person can eat or digestlead to rapid weight loss and increased risk of gallstones.   - Diet. Research suggests diets high in calories and refi ned carbohydrates and low in fi ber increase the risk of gallstones. Refi ned carbohydrates are grains processed to remove bran and germ, which contain nutrients and  fiber. Examples of refi ned carbohydrates include white bread and white rice.   - Certain intestinal diseases. Diseases that affect normal absorption of nutrients, such as Crohns disease, are associated with gallstones.   - Metabolic syndrome, diabetes, and insulin resistance. These conditions increase the risk of gallstones. Metabolic syndrome also increases the risk of gallstone complications. Metabolic syndrome is a group of traits and medical conditions linked to being overweight or obese that puts people at risk for heart disease and type 2 diabetes.

More information about these conditions is provided in the NIDDK health topic, Insulin Resistance and Prediabetes.

- cirrhosisa condition in which the liver slowly deteriorates and malfunctions due to chronic, or long lasting, injury   - infections in the bile ducts   - severe hemolytic anemiasconditions in which red blood cells are continuously broken down, such as sickle cell anemia


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

[User] What is (are) Spinocerebellar ataxia 3 ?

[Assistant] Spinocerebellar ataxia 3 is a rare movement disorder that is characterized by ataxia, clumsiness and weakness in the arms and legs, spasticity, a staggering lurching walk easily mistaken for drunkenness, difficulty with speech and swallowing, and involuntary eye movements sometimes accompanied by double vision, and bulging eyes. Some patients have dystonia or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, neuropathy, or problems with urination and the autonomic nervous system. Symptoms can begin any time between childhood and about 70 years of age. Spinocerebellar ataxia 3 is a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of the disorder to a normal life expectancy for those with mild forms. Spinocerebellar ataxia is inherited in an autosomal dominant pattern and is caused by a trinucleotide repeat expansion in the ataxin-3 gene (ATXN3).


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

[User] What is (are) Gum Disease ?

[Assistant] If you have gum disease, you're not alone. Many U.S. adults currently have some form of the disease. It ranges from simple gum inflammation, called gingivitis, to serious damage to the tissue and bone supporting the teeth. In the worst cases, you can lose teeth.    In gingivitis, the gums become red and swollen. They can bleed easily. Gingivitis is a mild form of gum disease. You can usually reverse it with daily brushing and flossing and regular cleanings by a dentist or dental hygienist. Untreated gingivitis can lead to periodontitis. If you have periodontitis, the gums pull away from the teeth and form pockets that become infected. If not treated, the bones, gums and connective tissue that support the teeth are destroyed.    NIH: National Institute of Dental and Craniofacial Research


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

[User] Is glucose phosphate isomerase deficiency 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.


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

[User] what research (or clinical trials) is being done for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ?

[Assistant]
New types of treatment are being tested in clinical trials.
	                    This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about ongoing clinical trials is available from the NCI website.     Targeted therapy      Targeted therapy is a treatment that uses drugs or other substances to find and attack specific cancer cells without harming normal cells. Kinase inhibitor therapy and monoclonal antibody therapy are types of targeted therapy being studied in clinical trials for osteosarcoma.     Kinase inhibitor therapy blocks a protein needed for cancer cells to divide. Sorafenib is a type of kinase inhibitor therapy being studied for the treatment of recurrent osteosarcoma.     Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Denosumab, dinutuximab, and glembatumumab are monoclonal antibodies being studied for the treatment of recurrent osteosarcoma.

	                    Patients may want to think about taking part in a clinical trial.
	                    For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment.   Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment.   Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.

	                    Patients can enter clinical trials before, during, or after starting their cancer treatment.
	                    Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment.   Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.

	                    Follow-up tests may be needed.
	                    Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests.   Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.


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

[User] What is the outlook for Trigeminal Neuralgia ?

[Assistant] The disorder is characterized by recurrences and remissions, and successive recurrences may incapacitate the patient. Due to the intensity of the pain, even the fear of an impending attack may prevent activity. Trigeminal neuralgia is not fatal.


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

[User] What are the symptoms of Tyrosinemia type 3 ?

[Assistant] What are the signs and symptoms of Tyrosinemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Tyrosinemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 4-Hydroxyphenylacetic aciduria - 4-Hydroxyphenylpyruvic aciduria - Abnormality of the liver - Autosomal recessive inheritance - Hypertyrosinemia - Intellectual disability, mild - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What causes Rh Incompatibility ?

[Assistant]
A difference in blood type between a pregnant woman and her baby causes Rh incompatibility. The condition occurs if a woman is Rh-negative and her baby is Rh-positive.

When you're pregnant, blood from your baby can cross into your bloodstream, especially during delivery. If you're Rh-negative and your baby is Rh-positive, your body will react to the baby's blood as a foreign substance.

Your body will create antibodies (proteins) against the baby's Rh-positive blood. These antibodies can cross the placenta and attack the baby's red blood cells. This can lead to hemolytic anemia in the baby.

Rh incompatibility usually doesn't cause problems during a first pregnancy. The baby often is born before many of the antibodies develop.

However, once you've formed Rh antibodies, they remain in your body. Thus, the condition is more likely to cause problems in second or later pregnancies (if the baby is Rh-positive).

With each pregnancy, your body continues to make Rh antibodies. As a result, each Rh-positive baby you conceive becomes more at risk for serious problems, such as severe hemolytic anemia.


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

[User] What is (are) BRCA1 hereditary breast and ovarian cancer syndrome ?

[Assistant] BRCA1 hereditary breast and ovarian cancer syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. Men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer. BRCA1 HBOC may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA1 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemoprevention and/or prophylactic surgeries.


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[User] Is Mowat-Wilson syndrome inherited ?

[Assistant] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.


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

[User] What are the symptoms of Familial dermographism ?

[Assistant] What are the signs and symptoms of Familial dermographism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dermographism. 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 - Dermatographic urticaria - 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 Fragile X syndrome inherited ?

[Assistant] How is fragile X syndrome inherited? Fragile X syndrome (FXS) is inherited in an X-linked dominant manner. A condition is X-linked if the responsible gene is located on the X chromosome. The inheritance is dominant if having only one changed (mutated) copy of the responsible gene is enough to cause symptoms of the condition. In women who carry an FMR1 gene premutation (approximately 55 to 200 CGG repeats), the repeats can expand to more than 200 repeats in their cells that develop into eggs. This means that women with a premutation (or a full mutation) have an increased risk to have a child with FXS. The size of the risk corresponds to the number of CGG repeats they have. By contrast, men with premutations are not at risk for the repeats expanding to over 200 when passing the gene to offspring. However, men with a premutation will pass the premutation on to all of their daughters and none of their sons. This is because boys receive only a Y chromosome from their fathers.