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

[User] What are the treatments for High Blood Pressure ?

[Assistant] Today, many different types of medicines are available to control high blood pressure. These medicines work in different ways. Some lower blood pressure by removing extra fluid and salt from your body. Others affect blood pressure by slowing down the heartbeat, or by relaxing and widening blood vessels. Often, two or more drugs work better than one. Here are the types of medicines used to treat high blood pressure. -   Diuretics (water or fluid Pills)  flush excess sodium from your body, which reduces the amount of fluid in your blood and helps to lower your blood pressure. Diuretics are often used with other high blood pressure medicines, sometimes in one combined pill.   -  Beta Blockers help your heart beat slower and with less force. As a result, your heart pumps less blood through your blood vessels, which can help to lower your blood pressure.  -  Angiotensin-Converting Enzyme (ACE) Inhibitors. Angiotensin-II is a hormone that narrows blood vessels, increasing blood pressure. ACE converts Angiotensin I to Angiotensin II. ACE inhibitors block this process, which stops the production of Angiotensin II, lowering blood pressure.  -  Angiotensin II Receptor Blockers (ARBs) block angiotensin II hormone from binding with receptors in the blood vessels. When angiotensin II is blocked, the blood vessels do not constrict or narrow, which can lower your blood pressure.  -  Calcium Channel Blockers keep calcium from entering the muscle cells of your heart and blood vessels. This allows blood vessels to relax, which can lower your blood pressure.   -  Alpha Blockers reduce nerve impulses that tighten blood vessels. This allows blood to flow more freely, causing blood pressure to go down.  -  Alpha-Beta Blockers reduce nerve impulses the same way alpha blockers do. However, like beta blockers, they also slow the heartbeat. As a result, blood pressure goes down.  -  Central Acting Agents act in the brain to decrease nerve signals that narrow blood vessels, which can lower blood pressure.  -  Vasodilators relax the muscles in blood vessel walls, which can lower blood pressure.   Diuretics (water or fluid Pills)  flush excess sodium from your body, which reduces the amount of fluid in your blood and helps to lower your blood pressure. Diuretics are often used with other high blood pressure medicines, sometimes in one combined pill. Beta Blockers help your heart beat slower and with less force. As a result, your heart pumps less blood through your blood vessels, which can help to lower your blood pressure. Angiotensin-Converting Enzyme (ACE) Inhibitors. Angiotensin-II is a hormone that narrows blood vessels, increasing blood pressure. ACE converts Angiotensin I to Angiotensin II. ACE inhibitors block this process, which stops the production of Angiotensin II, lowering blood pressure. Angiotensin II Receptor Blockers (ARBs) block angiotensin II hormone from binding with receptors in the blood vessels. When angiotensin II is blocked, the blood vessels do not constrict or narrow, which can lower your blood pressure. Calcium Channel Blockers keep calcium from entering the muscle cells of your heart and blood vessels. This allows blood vessels to relax, which can lower your blood pressure. Alpha Blockers reduce nerve impulses that tighten blood vessels. This allows blood to flow more freely, causing blood pressure to go down. Alpha-Beta Blockers reduce nerve impulses the same way alpha blockers do. However, like beta blockers, they also slow the heartbeat. As a result, blood pressure goes down. Central Acting Agents act in the brain to decrease nerve signals that narrow blood vessels, which can lower blood pressure. Vasodilators relax the muscles in blood vessel walls, which can lower blood pressure.


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[User] What are the treatments for 21-hydroxylase deficiency ?

[Assistant] What is the goal for treating 21-hydroxylase-deficient congenital adrenal hyperplasia? The objectives for treating 21-hydroxylase deficiency differ with age. In childhood, the overall goal is to replace cortisol. Obtaining hormonal balance is important and patients growth velocity and bone age is monitored. Routine analysis of blood, urine, and/or saliva may also be necessary. Corrective surgery is frequently required for females born with abnormal genitalia. In late childhood and adolescence, maintaining hormonal balance is equally important. Overtreatment may result in obesity and delayed menarche/puberty, whereas under-replacement will result in sexual precocity. Also, it is important that teens and young adults with 21-hydroxylase deficiency be successfully transitioned to adult care facilities. Follow-up of adult patients should involve multidisciplinary clinics. Problems in adult women include fertility concerns, excessive hair growth, and menstrual irregularity; obesity and impact of short stature; sexual dysfunction and psychological problems. Counseling may be helpful. Adult males may develop enlargement of the testes and if so, should work with an endocrinologist familiar with the management of patients with this deficiency.


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[User] How to diagnose Fanconi Anemia ?

[Assistant]
People who have Fanconi anemia (FA) are born with the disorder. They may or may not show signs or symptoms of it at birth. For this reason, FA isn't always diagnosed when a person is born. In fact, most people who have the disorder are diagnosed between the ages of 2 and 15 years.

The tests used to diagnose FA depend on a person's age and symptoms. In all cases, medical and family histories are an important part of diagnosing FA. However, because FA has many of the same signs and symptoms as other diseases, only genetic testing can confirm its diagnosis.

Specialists Involved

A geneticist is a doctor or scientist who studies how genes work and how diseases and traits are passed from parents to children through genes.

Geneticists do genetic testing for FA. They also can provide counseling about how FA is inherited and the types of prenatal (before birth) testing used to diagnose it.

An obstetrician may detect birth defects linked to FA before your child is born. An obstetrician is a doctor who specializes in providing care for pregnant women.

After your child is born, a pediatrician also can help find out whether your child has FA. A pediatrician is a doctor who specializes in treating children and teens.

A hematologist (blood disease specialist) also may help diagnose FA.

Family and Medical Histories

FA is an inherited disease. Some parents are aware that their family has a medical history of FA, even if they don't have the disease.

Other parents, especially if they're FA carriers, may not be aware of a family history of FA. Many parents may not know that FA can be passed from parents to children.

Knowing your family medical history can help your doctor diagnose whether you or your child has FA or another condition with similar symptoms.

If your doctor thinks that you, your siblings, or your children have FA, he or she may ask you detailed questions about:

Any personal or family history of anemia

Any surgeries youve had related to the digestive system

Any personal or family history of immune disorders

Your appetite, eating habits, and any medicines you take

If you know your family has a history of FA, or if your answers to your doctor's questions suggest a possible diagnosis of FA, your doctor will recommend further testing.

Diagnostic Tests and Procedures

The signs and symptoms of FA aren't unique to the disease. They're also linked to many other diseases and conditions, such as aplastic anemia. For this reason, genetic testing is needed to confirm a diagnosis of FA. Genetic tests for FA include the following.

Chromosome Breakage Test

This is the most common test for FA. It's available only in special laboratories (labs). It shows whether your chromosomes (long chains of genes) break more easily than normal.

Skin cells sometimes are used for the test. Usually, though, a small amount of blood is taken from a vein in your arm using a needle. A technician combines some of the blood cells with certain chemicals.

If you have FA, the chromosomes in your blood sample break and rearrange when mixed with the test chemicals. This doesn't happen in the cells of people who don't have FA.

Cytometric Flow Analysis

Cytometric flow analysis, or CFA, is done in a lab. This test examines how chemicals affect your chromosomes as your cells grow and divide. Skin cells are used for this test.

A technician mixes the skin cells with chemicals that can cause the chromosomes in the cells to act abnormally. If you have FA, your cells are much more sensitive to these chemicals.

The chromosomes in your skin cells will break at a high rate during the test. This doesn't happen in the cells of people who don't have FA.

Mutation Screening

A mutation is an abnormal change in a gene or genes. Geneticists and other specialists can examine your genes, usually using a sample of your skin cells. With special equipment and lab processes, they can look for gene mutations that are linked to FA.

Diagnosing Different Age Groups

Before Birth (Prenatal)

If your family has a history of FA and you get pregnant, your doctor may want to test you or your fetus for FA.

Two tests can be used to diagnose FA in a developing fetus: amniocentesis (AM-ne-o-sen-TE-sis) and chorionic villus (ko-re-ON-ik VIL-us) sampling (CVS). Both tests are done in a doctor's office or hospital.

Amniocentesis is done 15 to 18 weeks after a pregnant woman's last period. A doctor uses a needle to remove a small amount of fluid from the sac around the fetus. A technician tests chromosomes (chains of genes) from the fluid sample to see whether they have faulty genes associated with FA.

CVS is done 10 to 12 weeks after a pregnant woman's last period. A doctor inserts a thin tube through the vagina and cervix to the placenta (the temporary organ that connects the fetus to the mother).

The doctor removes a tissue sample from the placenta using gentle suction. The tissue sample is sent to a lab to be tested for genetic defects associated with FA.

At Birth

Three out of four people who inherit FA are born with birth defects. If your baby is born with certain birth defects, your doctor may recommend genetic testing to confirm a diagnosis of FA.

For more information about these defects, go to What Are the Signs and Symptoms of Fanconi Anemia?

Childhood and Later

Some people who have FA are not born with birth defects. Doctors may not diagnose them with the disorder until signs of bone marrow failure or cancer occur. This usually happens within the first 10 years of life.

Signs of bone marrow failure most often begin between the ages of 3 and 12 years, with 7 to 8 years as the most common ages. However, 10 percent of children who have FA aren't diagnosed until after 16 years of age.

If your bone marrow is failing, you may have signs of aplastic anemia. FA is one type of aplastic anemia.

In aplastic anemia, your bone marrow stops making or doesn't make enough of all three types of blood cells: red blood cells, white blood cells, and platelets.

Aplastic anemia can be inherited or acquired after birth through exposure to chemicals, radiation, or medicines.

Doctors diagnose aplastic anemia using:

Family and medical histories and a physical exam.

A complete blood count (CBC) to check the number, size, and condition of your red blood cells. The CBC also checks numbers of white blood cells and platelets.

A reticulocyte (re-TIK-u-lo-site) count. This test counts the number of new red blood cells in your blood to see whether your bone marrow is making red blood cells at the proper rate.

Bone marrow tests. For a bone marrow aspiration, a small amount of liquid bone marrow is removed and tested to see whether it's making enough blood cells. For a bone marrow biopsy, a small amount of bone marrow tissue is removed and tested to see whether it's making enough blood cells.

If you or your child is diagnosed with aplastic anemia, your doctor will want to find the cause. If your doctor suspects you have FA, he or she may recommend genetic testing.

For more information, go to the Health Topics Aplastic Anemia article.


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[User] How many people are affected by glutaric acidemia type I ?

[Assistant] Glutaric acidemia type I occurs in approximately 1 of every 30,000 to 40,000 individuals. It is much more common in the Amish community and in the Ojibwa population of Canada, where up to 1 in 300 newborns may be affected.


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[User] how is hps diagnosed and treated for Hantavirus ?

[Assistant]
Diagnosing HPS

Diagnosing HPS in an individual who has only been infected a few days is difficult, because early symptoms such as fever, muscle aches, and fatigue are easily confused with influenza. However, if the individual is experiencing fever and fatigue and has a history of potential rural rodent exposure, together with shortness of breath, would be strongly suggestive of HPS. If the individual is experiencing these symptoms they should see their physician immediately and mention their potential rodent exposure.
  Treating HPS

There is no specific treatment, cure, or vaccine for hantavirus infection. However, we do know that if infected individuals are recognized early and receive medical care in an intensive care unit, they may do better. In intensive care, patients are intubated and given oxygen therapy to help them through the period of severe respiratory distress.

The earlier the patient is brought in to intensive care, the better. If a patient is experiencing full distress, it is less likely the treatment will be effective.

Therefore, if you have been around rodents and have symptoms of fever, deep muscle aches, and severe shortness of breath, see your doctor immediately. Be sure to tell your doctor that you have been around rodents—this will alert your physician to look closely for any rodent-carried disease, such as HPS.


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[User] What are the symptoms of Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ?

[Assistant]
The most common symptom of microscopic colitis is chronic, watery, nonbloody diarrhea. Episodes of diarrhea can last for weeks, months, or even years. However, many people with microscopic colitis may have long periods without diarrhea. Other signs and symptoms of microscopic colitis can include

- a strong urgency to have a bowel movement or a need to go to the bathroom quickly  - pain, cramping, or bloating in the abdomenthe area between the chest and the hipsthat is usually mild  - weight loss  - fecal incontinenceaccidental passing of stool or fluid from the rectumespecially at night  - nausea  - dehydrationa condition that results from not taking in enough liquids to replace fluids lost through diarrhea

The symptoms of microscopic colitis can come and go frequently. Sometimes, the symptoms go away without treatment.


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[User] Is surfactant dysfunction inherited ?

[Assistant] Surfactant dysfunction can have different inheritance patterns depending on its genetic cause.  When caused by mutations in the SFTPB or ABCA3 gene, 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.  When caused by mutations in the SFTPC gene, this condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of cases caused by changes in the SFTPC gene, an affected person inherits the mutation from one affected parent. The remainder result from new mutations in the gene and occur in people with no history of the disorder in their family.


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[User] Is complement component 2 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.


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

[Assistant] What are the signs and symptoms of Charcot-Marie-Tooth disease type 2O? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2O. 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 - Decreased motor nerve conduction velocity - Difficulty running - Distal muscle weakness - Distal sensory impairment - Frequent falls - Hyporeflexia - Limb muscle weakness - Motor delay - Pes cavus - Phenotypic variability - Slow progression - 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) 3MC syndrome ?

[Assistant] 3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs of the body.  The distinctive facial features of people with 3MC syndrome include widely spaced eyes (hypertelorism), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), highly arched eyebrows, and an opening in the upper lip (cleft lip) with an opening in the roof of the mouth (cleft palate). Common features affecting other body systems include developmental delay, intellectual disability, hearing loss, and slow growth after birth resulting in short stature. Other features of 3MC syndrome can include abnormal fusion of certain bones in the skull (craniosynostosis) or forearm (radioulnar synostosis); an outgrowth of the tailbone (caudal appendage); a soft out-pouching around the belly-button (an umbilical hernia); and abnormalities of the kidneys, bladder, or genitals.  3MC syndrome encompasses four disorders that were formerly considered to be separate: Mingarelli, Malpeuch, Michels, and Carnevale syndromes. Researchers now generally consider these disorders to be part of the same condition, which is called 3MC based on the initials of the older condition names.


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[User] what is yersiniosis for Yersinia ?

[Assistant] Yersiniosis is an infectious disease caused by a bacterium of the genus Yersinia. In the United States, most human illness is caused by one species, Y. enterocolitica. Infection with Y. enterocolitica can cause a variety of symptoms depending on the age of the person infected. Infection with Y. enterocolitica occurs most often in young children. Common symptoms in children are fever, abdominal pain, and diarrhea, which is often bloody. Symptoms typically develop 4 to 7 days after exposure and may last 1 to 3 weeks or longer. In older children and adults, right-sided abdominal pain and fever may be the predominant symptoms, and may be confused with appendicitis. In a small proportion of cases, complications such as skin rash, joint pains, or spread of bacteria to the bloodstream can occur.


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[User] What are the treatments for Mainzer-Saldino syndrome ?

[Assistant] These resources address the diagnosis or management of Mainzer-Saldino syndrome:  - MedlinePlus Encyclopedia: Electroretinography  - National Institutes of Diabetes and Digestive and Kidney Diseases: Treatment Methods for Kidney Failure in Children   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] Is diastrophic dysplasia 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 treatments for Cryptogenic organizing pneumonia ?

[Assistant] How might cryptogenic organizing pneumonia be treated? The treatment of cryptogenic organizing pneumonia (COP) generally depends on the severity of the condition. For example, people who are mildly affected may simply be monitored as some cases can improve on their own. Unfortunately, the majority of people with COP have persistent and/or progressive symptoms that will require therapy. In these cases, oral or intravenous glucocorticoids can be given which often result in rapid improvement of symptoms.


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[User] What is (are) tuberous sclerosis complex ?

[Assistant] Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person.  Virtually all affected people have skin abnormalities, including patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood.  Tuberous sclerosis complex often affects the brain, causing seizures, behavioral problems such as hyperactivity and aggression, and intellectual disability or learning problems. Some affected children have the characteristic features of autism, a developmental disorder that affects communication and social interaction. Benign brain tumors can also develop in people with tuberous sclerosis complex; these tumors can cause serious or life-threatening complications.  Kidney tumors are common in people with tuberous sclerosis complex; these growths can cause severe problems with kidney function and may be life-threatening in some cases. Additionally, tumors can develop in the heart, lungs, and the light-sensitive tissue at the back of the eye (the retina).


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[User] What is (are) medium-chain acyl-CoA dehydrogenase deficiency ?

[Assistant] Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).  Signs and symptoms of MCAD deficiency typically appear during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycemia). In rare cases, symptoms of this disorder are not recognized early in life, and the condition is not diagnosed until adulthood. People with MCAD deficiency are at risk of serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden death.  Problems related to MCAD deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.


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[User] Who is at risk for Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies? ?

[Assistant] The risk factors for childhood AML, childhood CML, JMML, and MDS are similar. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your childs doctor if you think your child may be at risk. These and other factors may increase the risk of childhood AML, childhood CML, JMML, and MDS:         - Having a brother or sister, especially a twin, with leukemia.    - Being Hispanic.    - Being exposed to cigarette smoke or alcohol before birth.     - Having a personal history of aplastic anemia.    - Having a personal or family history of MDS.    - Having a family history of AML.    - Past treatment with chemotherapy or radiation therapy.    - Being exposed to ionizing radiation or chemicals such as benzene.    - Having certain genetic disorders, such as:               - Down syndrome.      -  Fanconi anemia.      -  Neurofibromatosis type 1.      -  Noonan syndrome.      -  Shwachman-Diamond syndrome.


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[User] What is (are) Floods ?

[Assistant] Floods are common in the United States. Weather such as heavy rain, thunderstorms, hurricanes, or tsunamis can cause flooding. Flooding can also happen when a river or stream overflows its bank, when a levee is breached, or when a dam breaks. Flash floods, which can develop quickly, often have a dangerous wall of roaring water. The wall carries rocks, mud, and rubble and can sweep away most things in its path.    Be aware of flood hazards no matter where you live, but especially if you live in a low-lying area, near water or downstream from a dam. Although there are no guarantees of safety during a flood, 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.    Federal Emergency Management Agency


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[User] How to prevent Balance Problems ?

[Assistant] Scientists are working to understand the complex interactions between the brain and the part of the inner ear responsible for balance. They are also studying the effectiveness of certain exercises as a treatment option for balance disorders. An NIDCD-supported clinical trial in benign paroxysmal positioning vertigo (BPPV) showed that repositioning maneuvers work well, and offered clinicians a range of choices in selecting the treatment best suited to each individuals unique needs. NIDCD-funded researchers have created a virtual reality grocery store. This virtual store is a computer-simulated environment that seems to be a physical place in the real world. It is designed so people with balance disorders can safely walk on a treadmill as they practice looking for items on store shelves. The goal is to help reduce a person's dizziness in confusing environments. NIDCD-supported scientists are also studying the use of a vestibular implant to stop a Mnires attack by restoring normal electrical activity in the vestibular nerve. This nerve conveys balance information to the brain. The device uses the same technology found in a cochlear implant, a medical device that currently provides a sense of sound to people who are deaf or hard-of-hearing.


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[User] What are the symptoms of Retinitis pigmentosa, deafness, mental retardation, and hypogonadism ?

[Assistant] What are the signs and symptoms of Retinitis pigmentosa, deafness, mental retardation, and hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinitis pigmentosa, deafness, mental retardation, and hypogonadism. 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) Acanthosis nigricans 90% Cognitive impairment 90% Gynecomastia 90% Hyperinsulinemia 90% Nystagmus 90% Sensorineural hearing impairment 90% Short stature 90% Type II diabetes mellitus 90% Atypical scarring of skin 50% Brachydactyly syndrome 50% Broad foot 50% Cataract 50% Coarse facial features 50% Cryptorchidism 50% Delayed skeletal maturation 50% Dry skin 50% Obesity 50% Secondary amenorrhea 50% Short toe 50% Visual impairment 50% Cerebral cortical atrophy 7.5% Hyperlordosis 7.5% Kyphosis 7.5% Polycystic ovaries 7.5% Abnormality of the ear - Autosomal recessive inheritance - Broad palm - Cerebellar atrophy - Cerebral atrophy - Elevated hepatic transaminases - Hypergonadotropic hypogonadism - Insulin-resistant diabetes mellitus - Intellectual disability - Pigmentary retinopathy - Rod-cone dystrophy - Sparse hair - Subcapsular cataract - 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 research (or clinical trials) is being done for Neuromyelitis Optica ?

[Assistant] The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. NINDS researchers are working to better understand the process by which the immune system destroys or attacks the nerve insulating substance called myelin in autoijmune diseases or disorders. Other work focuses on strategies to repair demyelinated spinal cords, including approaches using cell transplantation. this research may lead to a grater understanding of the mechanisms responsible for damaging myelin and may ultimately provide a means to prevent and treat transverse myelitis An NINDS-funded study comparing clinical MRI and lumbar puncture of healthy individuals to those with symptoms of immune-related central nervous system damage hopes to identify processes or mechanisms to inhibit or minimize spinal tissue damage and enhance recovery mechanisms. Multiple studies are looking at ways to target different components of the immune system known to be involved in NMO spectrum disorders to allow more directly targeted treatment of this disease.


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[User] What causes Citrullinemia type I ?

[Assistant] What causes citrullinemia type I? Citrullinemia type I is caused by mutations in the ASS1 gene. This gene provides instructions for making an enzyme, argininosuccinate synthetase 1, that is responsible for the third step in the urea cycle. Mutations in the ASS1 gene reduce the activity of the enzyme, which disrupts the urea cycle and prevents the body from processing nitrogen effectively. Excess nitrogen (in the form of ammonia) and other byproducts of the urea cycle accumulate in the bloodstream. Ammonia is particularly toxic to the nervous system, which helps explain the neurologic symptoms (such as lethargy, seizures, and ataxia) that are often seen in this condition.


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[User] How to prevent Parasites - Toxoplasmosis (Toxoplasma infection) ?

[Assistant]
People who are healthy should follow the guidelines below to reduce risk of toxoplasmosis. If you have a weakened immune system, please see guidelines for Immunocompromised Persons.
   Reduce Risk from Food

To prevent risk of toxoplasmosis and other infections from food:

    - Freeze meat for several days at sub-zero (0° F) temperatures before cooking to greatly reduce chance of infection.
    - Peel or wash fruits and vegetables thoroughly before eating.

    - Wash cutting boards, dishes, counters, utensils, and hands with hot soapy water after contact with raw meat, poultry, seafood, or unwashed fruits or vegetables.

More on: Handwashing

The U.S. Government and the meat industry continue their efforts to reduce T. gondii in meat.
   Reduce Risk from the Environment

To prevent risk of toxoplasmosis from the environment:

    - Avoid drinking untreated drinking water.
    - Wear gloves when gardening and during any contact with soil or sand because it might be contaminated with cat feces that contain Toxoplasma. Wash hands with soap and warm water after gardening or contact with soil or sand.
    - Teach children the importance of washing hands to prevent infection.
    - Keep outdoor sandboxes covered.

    - Feed cats only canned or dried commercial food or well-cooked table food, not raw or undercooked meats.
    - Change the litter box daily if you own a cat. The Toxoplasma parasite does not become infectious until 1 to 5 days after it is shed in a cat's feces. If you are pregnant or immunocompromised:

      - Avoid changing cat litter if possible. If no one else can perform the task, wear disposable gloves and wash your hands with soap and warm water afterwards.
      - Keep cats indoors.
      - Do not adopt or handle stray cats, especially kittens. Do not get a new cat while you are pregnant.


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[User] What are the genetic changes related to congenital neuronal ceroid lipofuscinosis ?

[Assistant] Mutations in the CTSD gene cause congenital NCL. The CTSD gene provides instructions for making an enzyme called cathepsin D. Cathepsin D is one of a family of cathepsin proteins that act as proteases, which modify proteins by cutting them apart. Cathepsin D is found in many types of cells and is active in lysosomes, which are compartments within cells that digest and recycle different types of molecules. By cutting proteins apart, cathepsin D can break proteins down, turn on (activate) proteins, and regulate self-destruction of the cell (apoptosis).  CTSD gene mutations that cause congenital NCL lead to a complete lack of cathepsin D enzyme activity. As a result, proteins and other materials are not broken down properly. In the lysosomes, these materials accumulate into fatty substances called lipopigments. These accumulations occur in cells throughout the body, but neurons are likely particularly vulnerable to damage caused by the abnormal cell materials and the loss of cathepsin D function. Early and widespread cell death in congenital NCL leads to severe signs and symptoms and death in infancy.


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[User] What are the treatments for Prevent diabetes problems: Keep your nervous system healthy ?

[Assistant]
The treatment for nerve damage from diabetes is based on your symptoms. No treatment can reverse nerve damage; however, it can help you feel better. Your doctor might suggest taking low doses of medicines that both treat other health problems and help the pain of neuropathy. Some of these medicines include

- antidepressants  - anticonvulsants, or anti-seizure medicines

Other treatment options include

- creams or patches on your skin for burning pain  - over-the-counter pain medicines  - acupuncture, a form of pain treatment that uses needles inserted into your body at certain pressure points  - physical therapy, which helps with muscle weakness and loss of balance  - relaxation exercises, such as yoga  - special shoes to fit softly around sore feet or feet that have changed shape

Your doctor also can prescribe medicines to help with problems caused by nerve damage in other areas of your body, such as poor digestion, dizziness, sexual problems, and lack of bladder control.

Stopping smoking and drinking alcoholic beverages also may help with symptoms.


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[User] What is (are) SAPHO syndrome ?

[Assistant] SAPHO syndrome involves any combination of: Synovitis (inflammation of the joints), Acne, Pustulosis (thick yellow blisters containing pus) often on the palms and soles, Hyperostosis (increase in bone substance) and Osteitis (inflammation of the bones). The cause of SAPHO syndrome is unknown and treatment is focused on managing symptoms.


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[User] What causes Fumarase deficiency ?

[Assistant] What causes fumarase deficiency? Mutations in the FH gene cause fumarase deficiency. The FH gene provides instructions for making an enzyme called fumarase, which participates in a series of reactions allowing cells to use oxygen and generate energy. Mutations in the FH gene disrupt the enzyme's ability to do its job. Disruption of the process that generates energy for cells is particularly harmful to cells in the developing brain, thus resulting in the signs and symptoms of fumarase deficiency.


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[User] What to do for What I need to know about Hepatitis A ?

[Assistant] - Hepatitis A is a virus, or infection, that causes inflammation of the liver.  - Anyone can get hepatitis A, but some people are more likely to than others.  - You could get hepatitis A through contact with an infected persons stool.  - Most people do not have any symptoms of hepatitis A.  - Children younger than age 6 may have no symptoms of hepatitis A.  - Hepatitis A may cause mild, flulike symptoms in older children and adults.  - See a doctor right away if you or a child in your care has symptoms of hepatitis A.  - A blood test will show if you have hepatitis A.  - Hepatitis A usually gets better in a few weeks without treatment.  - You can avoid getting hepatitis A by receiving the hepatitis A vaccine.  - Tell your doctor and your dentist if you have hepatitis A.  - See your doctor right away if you think you have been in contact with the hepatitis A virus.


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[User] What is the outlook for Gaucher Disease ?

[Assistant] Enzyme replacement therapy is very beneficial for type 1 and most type 3 individuals with this condition. Successful bone marrow transplantation can reverse the non-neurological effects of the disease, but the procedure carries a high risk and is rarely performed in individuals with Gaucher disease.


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[User] What are the treatments for Extragonadal Germ Cell Tumors ?

[Assistant]
Key Points
                    - There are different types of treatment for patients with extragonadal germ cell tumors.    - Three types of standard treatment are used:         - Radiation therapy     - Chemotherapy     - Surgery        - New types of treatment are being tested in clinical trials.          - High-dose chemotherapy with stem cell transplant        - Patients may want to think about taking part in a clinical trial.    - Patients can enter clinical trials before, during, or after starting their cancer treatment.    - Follow-up tests may be needed.

                    There are different types of treatment for patients with extragonadal germ cell tumors.
                    Different types of treatments are available for patients with extragonadal germ cell tumors. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.

                    Three types of standard treatment are used:
                    Radiation therapy     Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy:            -  External radiation therapy uses a machine outside the body to send radiation toward the cancer.     -  Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer.           The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat seminoma.       Chemotherapy     Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly in the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated.       Surgery    Patients who have benign tumors or tumor remaining after chemotherapy or radiation therapy may need to have surgery.

                    New types of treatment are being tested in clinical trials.
                    This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website.     High-dose chemotherapy with stem cell transplant     High-dose chemotherapy with stem cell transplant is a method of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells.

                    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 condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.   After initial treatment for extragonadal germ cell tumors, blood levels of AFP and other tumor markers continue to be checked to find out how well the treatment is working.

		            Treatment Options for Extragonadal Germ Cell Tumors

		                    Benign Teratoma
		                    Treatment of benign teratomas is surgery.    Check the list of NCI-supported cancer clinical trials that are now accepting patients with benign teratoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.

		                    Seminoma
		                    Treatment of seminoma extragonadal germ cell tumors may include the following:         -  Radiation therapy for small tumors in one area, followed by watchful waiting if there is tumor remaining after treatment.     -  Chemotherapy for larger tumors or tumors that have spread. If a tumor smaller than 3 centimeters remains after chemotherapy, watchful waiting follows. If a larger tumor remains after treatment, surgery or watchful waiting follow.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with extragonadal seminoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.

		                    Nonseminoma
		                    Treatment of nonseminoma extragonadal germ cell tumors may include the following:         -  Combination chemotherapy followed by surgery to remove any remaining tumor.     - A clinical trial of a new treatment.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with malignant extragonadal non-seminomatous germ cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.

		                    Recurrent or Refractory Extragonadal Germ Cell Tumors
		                    Treatment of extragonadal germ cell tumors that are recurrent (come back after being treated) or refractory (do not get better during treatment) may include the following:         -  Chemotherapy.    - A clinical trial of high-dose chemotherapy with stem cell transplant.     - A clinical trial of a new treatment.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent extragonadal germ cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.


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[User] What is the outlook for Lesch-Nyhan Syndrome ?

[Assistant] The prognosis for individuals with LNS is poor. Death is usually due to renal failure in the first or second decade of life.


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[User] What is (are) Schinzel-Giedion syndrome ?

[Assistant] Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms of this condition include distinctive facial features, neurological problems, and organ and bone abnormalities. Because of their serious health problems, most affected individuals do not survive past childhood.  Children with Schinzel-Giedion syndrome can have a variety of distinctive features. In most affected individuals, the middle of the face looks as though it has been drawn inward (midface retraction). Other facial features include a large or bulging forehead; wide-set eyes (ocular hypertelorism); a short, upturned nose; and a wide mouth with a large tongue (macroglossia). Affected individuals can have other distinctive features, including larger than normal gaps between the bones of the skull in infants (fontanelles), a short neck, ear malformations, an inability to secrete tears (alacrima), and excessive hairiness (hypertrichosis). Hypertrichosis often disappears in infancy.  Children with Schinzel-Giedion syndrome have severe developmental delay. Other neurological problems can include severe feeding problems, seizures, or visual or hearing impairment.  Affected individuals can also have abnormalities of organs such as the heart, kidneys, or genitals. Heart defects include problems with the heart valves, which control blood flow in the heart; the chambers of the heart that pump blood to the body (ventricles); or the dividing wall between the sides of the heart (the septum). Most children with Schinzel-Giedion syndrome have accumulation of urine in the kidneys (hydronephrosis), which can occur in one or both kidneys. Affected individuals can have genital abnormalities such as underdevelopment (hypoplasia) of the genitals. Affected boys may have the opening of the urethra on the underside of the penis (hypospadias).  Bone abnormalities are common in people with Schinzel-Giedion syndrome. The bones at the base of the skull are often abnormally hard or thick (sclerotic), or the joint between the bones at the base of the skull (occipital synchondrosis) can be abnormally wide. In addition, affected individuals may have broad ribs, abnormal collarbones (clavicles), or shortened bones at the ends of the fingers (hypoplastic distal phalanges).  Children with this condition who survive past infancy have a higher than normal risk of developing certain types of tumors called neuroepithelial tumors.


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[User] What are the symptoms of Krabbe disease atypical due to Saposin A deficiency ?

[Assistant] What are the signs and symptoms of Krabbe disease atypical due to Saposin A deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Krabbe disease atypical due to Saposin A deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Central apnea - Cerebral dysmyelination - Death in childhood - Global brain atrophy - Hypertonia - Hyporeflexia - Increased CSF protein - Infantile onset - Respiratory failure - 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 Causes of Diabetes ?

[Assistant]
Insulin Resistance and Beta Cell Dysfunction

Hormones produced by the placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. If the pancreas cant produce enough insulin due to beta cell dysfunction, gestational diabetes occurs.

As with type 2 diabetes, excess weight is linked to gestational diabetes. Overweight or obese women are at particularly high risk for gestational diabetes because they start pregnancy with a higher need for insulin due to insulin resistance. Excessive weight gain during pregnancy may also increase risk.

Family History

Having a family history of diabetes is also a risk factor for gestational diabetes, suggesting that genes play a role in its development. Genetics may also explain why the disorder occurs more frequently in African Americans, American Indians, and Hispanics/Latinos. Many gene variants or combinations of variants may increase a womans risk for developing gestational diabetes. Studies have found several gene variants associated with gestational diabetes, but these variants account for only a small fraction of women with gestational diabetes.

Future Risk of Type 2 Diabetes

Because a womans hormones usually return to normal levels soon after giving birth, gestational diabetes disappears in most women after delivery. However, women who have gestational diabetes are more likely to develop gestational diabetes with future pregnancies and develop type 2 diabetes.3 Women with gestational diabetes should be tested for persistent diabetes 6 to 12 weeks after delivery and at least every 3 years thereafter.

Also, exposure to high glucose levels during gestation increases a childs risk for becoming overweight or obese and for developing type 2 diabetes later on. The result may be a cycle of diabetes affecting multiple generations in a family. For both mother and child, maintaining a healthy body weight and being physically active may help prevent type 2 diabetes.


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[User] What causes Essential tremor ?

[Assistant] What causes essential tremor? The causes of essential tremor are unknown. Researchers are studying several areas (loci) on particular chromosomes that may be linked to essential tremor, but no specific genetic associations have been confirmed. Several genes, as well as environmental factors, are likely involved in an individual's risk of developing this complex condition.


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[User] Is Russell-Silver syndrome inherited ?

[Assistant] Most cases of Russell-Silver syndrome are sporadic, which means they occur in people with no history of the disorder in their family.  Less commonly, Russell-Silver syndrome can run in families. In some affected families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of a genetic change in each cell is sufficient to cause the disorder. In other families, the condition has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of a gene are altered in each cell. 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 treatments for glucose phosphate isomerase deficiency ?

[Assistant] These resources address the diagnosis or management of GPI deficiency:  - Genetic Testing Registry: Glucosephosphate isomerase deficiency  - Genetic Testing Registry: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency  - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Diagnosed?  - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Treated?   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the treatments for Juvenile Huntington disease ?

[Assistant] How might Juvenile Huntington disease (HD) be treated? Physicians may prescribe a number of medications to help control emotional and movement problems associated with HD. It is important to remember however, that while medicines may help keep these clinical symptoms under control, there is no treatment to stop or reverse the course of the disease. Anticonvulsant drugs are usually prescribed to help prevent and control the seizures that occur in children with Juvenile HD. Tetrabenazine is often used to treat chorea. Antipsychotic drugs, such as haloperidol, or other drugs, such as clonazepam, may also help to alleviate chorea and may also be used to help control hallucinations, delusions, and violent outbursts. For depression, physicians may prescribe fluoxetine, sertraline, nortriptyline, or other drugs. Tranquilizers can help control anxiety and lithium may be prescribed to combat severe mood swings.


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

[Assistant] Lujan syndrome appears to be an uncommon condition, but its prevalence is unknown.


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[User] What is (are) Phaeohyphomycosis ?

[Assistant] Phaeohyphomycosis refers to fungal infections caused by dematiaceous (darkly, pigmented fungi). It can be associated with a variety of clinical syndromes including invasive sinusitis; nodules or abscesses beneath the skin; keratitis; lung masses; osteomyelitis; mycotic arthritis; endocarditis; brain abscess; and wide-spread infection. Although the condition can affect all people, it is most commonly diagnosed in immunocompetent and immunosuppressed people and can even be life-threatening in these populations. Treatment depends on the signs and symptoms present in each person but may include surgery and/or various medications.


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[User] What is (are) desmoid tumor ?

[Assistant] A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Typically, a single tumor develops, although some people have multiple tumors. The tumors can occur anywhere in the body. Tumors that form in the abdominal wall are called abdominal desmoid tumors; those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors; and tumors found in other regions of the body are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most often in the shoulders, upper arms, and upper legs.  Desmoid tumors are fibrous, much like scar tissue. They are generally not considered cancerous (malignant) because they do not spread to other parts of the body (metastasize); however, they can aggressively invade the surrounding tissue and can be very difficult to remove surgically. These tumors often recur, even after apparently complete removal.  The most common symptom of desmoid tumors is pain. Other signs and symptoms, which are often caused by growth of the tumor into surrounding tissue, vary based on the size and location of the tumor. Intra-abdominal desmoid tumors can block the bowel, causing constipation. Extra-abdominal desmoid tumors can restrict the movement of affected joints and cause limping or difficulty moving the arms or legs.  Desmoid tumors occur frequently in people with an inherited form of colon cancer called familial adenomatous polyposis (FAP). These individuals typically develop intra-abdominal desmoid tumors in addition to abnormal growths (called polyps) and cancerous tumors in the colon. Desmoid tumors that are not part of an inherited condition are described as sporadic.


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[User] How many people are affected by autosomal recessive hypotrichosis ?

[Assistant] The worldwide prevalence of autosomal recessive hypotrichosis is unknown. In Japan, the condition is estimated to affect 1 in 10,000 individuals.


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[User] Is beta-ureidopropionase 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.


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[User] What causes Primary Biliary Cirrhosis ?

[Assistant]
The causes of primary biliary cirrhosis are unknown. Most research suggests it is an autoimmune disease. The immune system protects people from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. An autoimmune disease is a disorder in which the bodys immune system attacks the bodys own cells and organs. In primary biliary cirrhosis, the immune system attacks the small bile ducts in the liver.

Genetics, or inherited genes, can make a person more likely to develop primary biliary cirrhosis. Primary biliary cirrhosis is more common in people who have a parent or siblingparticularly an identical twinwith the disease. In people who are genetically more likely to develop primary biliary cirrhosis, environmental factors may trigger or worsen the disease, including

- exposure to toxic chemicals  - smoking  - infections

Genetics can also make some people more likely to develop other autoimmune diseases, such as

- autoimmune hepatitis, a disease in which the bodys immune system attacks liver cells  - Sjgrens syndrome, a condition in which the immune system attacks the glands that produce tears and saliva  - autoimmune thyroid dysfunctions, conditions in which the immune system attacks the thyroid gland


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[User] What is (are) Parathyroid Disorders ?

[Assistant] Most people have four pea-sized glands, called parathyroid glands, on the thyroid gland in the neck. Though their names are similar, the thyroid and parathyroid glands are completely different. The parathyroid glands make parathyroid hormone (PTH), which helps your body keep the right balance of calcium and phosphorous.    If your parathyroid glands make too much or too little hormone, it disrupts this balance. If they secrete extra PTH, you have hyperparathyroidism, and your blood calcium rises. In many cases, a benign tumor on a parathyroid gland makes it overactive. Or, the extra hormones can come from enlarged parathyroid glands. Very rarely, the cause is cancer.    If you do not have enough PTH, you have hypoparathyroidism. Your blood will have too little calcium and too much phosphorous. Causes include injury to the glands, endocrine disorders, or genetic conditions. Treatment is aimed at restoring the balance of calcium and phosphorous.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases


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[User] What is (are) Congenital contractural arachnodactyly ?

[Assistant] Congenital contractural arachnodactyly (CCA) is a genetic disorder that is typically characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; "crumpled"-looking ears, and curvature of the spine (kyphoscoliosis). Other features might also be present and vary from person to person. CCA is caused by mutations in a gene called FBN2 gene and is inherited in an autosomal dominant pattern. CCA shares similiar signs and symptoms to Marfan syndrome; however, Marfan syndrome is not caused by mutations in the FBN2 gene.


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[User] What is (are) High Blood Cholesterol ?

[Assistant]
To understand high blood cholesterol (ko-LES-ter-ol), it helps to learn about cholesterol. Cholesterol is a waxy, fat-like substance thats found in all cells of the body.

Your body needs some cholesterol to make hormones, vitamin D, and substances that help you digest foods. Your body makes all the cholesterol it needs. However, cholesterol also is found in some of the foods you eat.

Cholesterol travels through your bloodstream in small packages called lipoproteins (lip-o-PRO-teens). These packages are made of fat (lipid) on the inside and proteins on the outside.

Two kinds of lipoproteins carry cholesterol throughout your body: low-density lipoproteins (LDL) and high-density lipoproteins (HDL). Having healthy levels of both types of lipoproteins is important.

LDL cholesterol sometimes is called bad cholesterol. A high LDL level leads to a buildup of cholesterol in your arteries. (Arteries are blood vessels that carry blood from your heart to your body.)

HDL cholesterol sometimes is called good cholesterol. This is because it carries cholesterol from other parts of your body back to your liver. Your liver removes the cholesterol from your body.

What Is High Blood Cholesterol?

High blood cholesterol is a condition in which you have too much cholesterol in your blood. By itself, the condition usually has no signs or symptoms. Thus, many people dont know that their cholesterol levels are too high.

People who have high blood cholesterol have a greater chance of getting coronary heart disease, also called coronary artery disease. (In this article, the term heart disease refers to coronary heart disease.)

The higher the level of LDL cholesterol in your blood, the GREATER your chance is of getting heart disease. The higher the level of HDL cholesterol in your blood, the LOWER your chance is of getting heart disease.

Coronary heart disease is a condition in which plaque (plak) builds up inside the coronary (heart) arteries. Plaque is made up of cholesterol, fat, calcium, and other substances found in the blood. When plaque builds up in the arteries, the condition is called atherosclerosis (ATH-er-o-skler-O-sis).

Atherosclerosis

Over time, plaque hardens and narrows your coronary arteries. This limits the flow of oxygen-rich blood to the heart.

Eventually, an area of plaque can rupture (break open). This causes a blood clot to form on the surface of the plaque. If the clot becomes large enough, it can mostly or completely block blood flow through a coronary artery.

If the flow of oxygen-rich blood to your heart muscle is reduced or blocked, angina (an-JI-nuh or AN-juh-nuh) or a heart attack may occur.

Angina is chest pain or discomfort. It may feel like pressure or squeezing in your chest. The pain also may occur in your shoulders, arms, neck, jaw, or back. Angina pain may even feel like indigestion.

A heart attack occurs if the flow of oxygen-rich blood to a section of heart muscle is cut off. If blood flow isnt restored quickly, the section of heart muscle begins to die. Without quick treatment, a heart attack can lead to serious problems or death.

Plaque also can build up in other arteries in your body, such as the arteries that bring oxygen-rich blood to your brain and limbs. This can lead to problems such as carotid artery disease, stroke, and peripheral artery disease.

Outlook

Lowering your cholesterol may slow, reduce, or even stop the buildup of plaque in your arteries. It also may reduce the risk of plaque rupturing and causing dangerous blood clots.

Sources: National Center for Health Statistics (20072010). National Health and Nutrition Examination Survey; National Center for Health Statistics (20052008). National Health and Nutrition Examination Survey; National Heart, Lung, and Blood Institute, National Cholesterol Education Program (2002). Third report of the National Cholesterol Education Program (NCEP) exert panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III) final report.


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[User] Is dilated cardiomyopathy with ataxia 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 is the outlook for Metachromatic Leukodystrophy ?

[Assistant] The prognosis for MLD is poor. Most children within the infantile form die by age 5. Symptoms of the juvenile form progress with death occurring 10 to 20 years following onset. Those persons affected by the adult form typically die withing 6 to 14 years following onset of symptoms.


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

[Assistant] Although the causes of cyclic vomiting syndrome have yet to be determined, researchers have proposed several factors that may contribute to the disorder. These factors include changes in brain function, hormonal abnormalities, and gastrointestinal problems. Many researchers believe that cyclic vomiting syndrome is a migraine-like condition, which suggests that it is related to changes in signaling between nerve cells (neurons) in certain areas of the brain. Many affected individuals have abnormalities of the autonomic nervous system, which controls involuntary body functions such as heart rate, blood pressure, and digestion. Based on these abnormalities, cystic vomiting syndrome is often classified as a type of dysautonomia.  Some cases of cyclic vomiting syndrome, particularly those that begin in childhood, may be related to changes in mitochondrial DNA. Mitochondria are structures within cells that 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).  Several changes in mitochondrial DNA have been associated with cyclic vomiting syndrome. Some of these changes alter single DNA building blocks (nucleotides), whereas others rearrange larger segments of mitochondrial DNA. These changes likely impair the ability of mitochondria to produce energy. Researchers speculate that the impaired mitochondria may cause certain cells of the autonomic nervous system to malfunction, which could affect the digestive system. However, it remains unclear how changes in mitochondrial function could cause episodes of nausea, vomiting, and lethargy; abdominal pain; or migraines in people with this condition.


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[User] What are the symptoms of Poland syndrome ?

[Assistant] What are the signs and symptoms of Poland syndrome? Signs and symptoms of Poland syndrome may be slight to severe. Some people with Poland syndrome have only absence of the breast tissue, while others may be missing all or part of the chest muscle and underlying ribs. Symptoms tend to occur on one side of the body. Below we have listed symptoms that can be found in this condition:  Absence of some of the chest muscles.  The end of the main chest muscle, where it attaches to the breastbone, is usually missing.  The nipple, including the darkened area around it (areola) is underdeveloped or missing; in females, this may extend to the breast and underlying tissues. Abnormally short and slightly webbed fingers. Often, the armpit (axillary) hair is missing. The skin in the area is underdeveloped (hypoplastic) with a thinned subcutaneous fat layer.  The upper rib cage can be underdeveloped or missing, Sometimes the shoulder blade or bones of the arm are also involved, Rarely, spine or kidney problems are present.   The Human Phenotype Ontology provides the following list of signs and symptoms for Poland 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) Aplasia of the pectoralis major muscle 90% Aplasia/Hypoplasia of the nipples 90% Asymmetry of the thorax 90% Breast aplasia 90% Brachydactyly syndrome 50% Finger syndactyly 50% Split hand 50% Abnormal dermatoglyphics 7.5% Abnormality of the humerus 7.5% Abnormality of the liver 7.5% Abnormality of the lower limb 7.5% Abnormality of the ribs 7.5% Abnormality of the sternum 7.5% Abnormality of the ulna 7.5% Absent hand 7.5% Acute leukemia 7.5% Aplasia/Hypoplasia of the radius 7.5% Aplasia/Hypoplasia of the thumb 7.5% Cone-shaped epiphysis 7.5% Congenital diaphragmatic hernia 7.5% Low posterior hairline 7.5% Microcephaly 7.5% Neoplasm of the breast 7.5% Reduced bone mineral density 7.5% Renal hypoplasia/aplasia 7.5% Retinal hamartoma 7.5% Scoliosis 7.5% Short neck 7.5% Situs inversus totalis 7.5% Abnormality of the breast - Absence of pectoralis minor muscle - Autosomal dominant inheritance - Dextrocardia - Hemivertebrae - Hypoplasia of deltoid muscle - Hypoplasia of latissimus dorsi muscle - Hypoplasia of serratus anterior muscle - Rib fusion - Short ribs - Sprengel anomaly - Syndactyly - Unilateral absence of pectoralis major muscle - Unilateral brachydactyly - Unilateral hypoplasia of pectoralis major muscle - Unilateral oligodactyly - 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 Crigler Najjar syndrome, type 2 ?

[Assistant] What are the signs and symptoms of Crigler Najjar syndrome, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Crigler Najjar syndrome, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the liver 90% Autosomal recessive inheritance - Jaundice - Unconjugated hyperbilirubinemia - 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 Carpenter 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 is (are) Limb-girdle muscular dystrophy ?

[Assistant] Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Males and females are affected in equal numbers. Most forms of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. Several rare forms are inherited in an autosomal dominant pattern. While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. There are at least 20 different types of limb-girdle muscular dystrophy.


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[User] What is (are) Stiff person syndrome ?

[Assistant] Stiff person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. Symptoms may include muscle stiffness in the trunk and limbs, and heightened sensitivity to noise, touch, and emotional distress, which can set off muscle spasms. Affected people may also have abnormal postures, such as being hunched over. SPS affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. The exact causes of SPS is not known. Treatment may involve high-dose diazepam, anti-convulsants, or intravenous immunoglobulin (IVIG).


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[User] What are the stages of Childhood Astrocytomas ?

[Assistant]
Key Points
                    - The grade of the tumor is used to plan cancer treatment.          - Low-grade astrocytomas     - High-grade astrocytomas        - An MRI is done after surgery.

                    The grade of the tumor is used to plan cancer treatment.
                    Staging is the process used to find out how much cancer there is and if cancer has spread. It is important to know the stage in order to plan treatment.    There is no standard staging system for childhood astrocytoma. Treatment is based on the following:          - Whether the tumor is low grade or high grade.    - Whether the tumor is newly diagnosed or recurrent (has come back after treatment).        The grade of the tumor describes how abnormal the cancer cells look under a microscope and how quickly the tumor is likely to grow and spread.   The following grades are used:     Low-grade astrocytomas    Low-grade astrocytomas are slow-growing and rarely spread to other parts of the brain and spinal cord or other parts of the body. There are many types of low-grade astrocytomas. Low-grade astrocytomas can be either:            - Grade I tumors pilocytic astrocytoma, subependymal giant cell tumor, or angiocentric glioma.     - Grade II tumors diffuse astrocytoma, pleomorphic xanthoastrocytoma, or choroid glioma of the third ventricle.            Children who have neurofibromatosis type 1 may have more than one low-grade tumor in the brain. Children who have tuberous sclerosis have an increased risk of subependymal giant cell astrocytoma.       High-grade astrocytomas     High-grade astrocytomas are fast-growing and often spread within the brain and spinal cord. There are several types of high-grade astrocytomas. High grade astrocytomas can be either:            - Grade III tumors anaplastic astrocytoma or anaplastic pleomorphic xanthoastrocytoma.      - Grade IV tumors glioblastoma or diffuse midline glioma.             Childhood astrocytomas usually do not spread to other parts of the body.

                    An MRI is done after surgery.
                    An MRI (magnetic resonance imaging) is done in the first few days after surgery. This is to find out how much tumor, if any, remains after surgery and to plan further treatment.


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[User] What is (are) Weyers acrofacial dysostosis ?

[Assistant] Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a single central incisor). Additionally, the lower jaw (mandible) may be abnormally shaped. People with Weyers acrofacial dysostosis have abnormally small or malformed fingernails and toenails. Most people with the condition are relatively short, and they may have extra fingers or toes (polydactyly).  The features of Weyers acrofacial dysostosis overlap with those of another, more severe condition called Ellis-van Creveld syndrome. In addition to tooth and nail abnormalities, people with Ellis-van Creveld syndrome have very short stature and are often born with heart defects. The two conditions are caused by mutations in the same genes.


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[User] Is familial paroxysmal nonkinesigenic dyskinesia inherited ?

[Assistant] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is typically sufficient to cause the disorder. Almost everyone with a mutation in the PNKD gene will develop familial paroxysmal nonkinesigenic dyskinesia. In all reported cases, an affected person has inherited the mutation from one parent.


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[User] Do you have information about International Health

[Assistant] Summary : The spread of a disease doesn't stop at a country's borders. With more people traveling to other countries and living in crowded cities, it's easier for germs to spread. Infectious diseases that start in one part of the world can quickly reach another. Drug resistance is on the rise, making it harder to treat certain diseases. Natural and man-made disasters create refugee populations with immediate and long-term health problems.    Some of the major diseases currently affecting countries around the globe include HIV/AIDS, malaria, pandemic/avian flu, and tuberculosis. Many countries and health organizations are working together and sharing information on these and other health issues.


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[User] What are the symptoms of Primary Familial Brain Calcification ?

[Assistant] What are the signs and symptoms of Primary Familial Brain Calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary Familial Brain Calcification. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of neuronal migration 90% Cerebral calcification 90% Hepatomegaly 90% Intrauterine growth retardation 90% Microcephaly 90% Seizures 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Ventriculomegaly 90% Opacification of the corneal stroma 50% Abnormal pyramidal signs 5% Adult onset - Athetosis - Autosomal dominant inheritance - Basal ganglia calcification - Bradykinesia - Calcification of the small brain vessels - Chorea - Dense calcifications in the cerebellar dentate nucleus - Depression - Dysarthria - Dysdiadochokinesis - Dystonia - Gait disturbance - Hyperreflexia - Limb dysmetria - Mask-like facies - Memory impairment - Mental deterioration - Parkinsonism - Postural instability - Progressive - Psychosis - Rigidity - Tremor - Urinary incontinence - 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] Who is at risk for Langerhans Cell Histiocytosis? ?

[Assistant] 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 with your doctor if you think you may be at risk. Risk factors for LCH include the following:         - Having a parent who was exposed to certain chemicals such as benzene.    - Having a parent who was exposed to metal, granite, or wood dust in the workplace.    - A family history of cancer, including LCH.    -  Having infections as a newborn.    - Having a personal history or family history of thyroid disease.    - Smoking, especially in young adults.    - Being Hispanic.


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[User] what research (or clinical trials) is being done for Metastatic Squamous Neck Cancer with Occult Primary ?

[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 clinical trials is available from the NCI website.     Chemotherapy     Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy).        Hyperfractionated radiation therapy     Hyperfractionated radiation therapy is a type of external radiation treatment in which a smaller than usual total daily dose of radiation is divided into two doses and the treatments are given twice a day. Hyperfractionated radiation therapy is given over the same period of time (days or weeks) as standard radiation therapy.

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

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


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[User] Do you have information about Patient Safety

[Assistant] Summary : You can help prevent medical errors by being an active member of your health care team. Research shows that patients who are more involved with their care tend to get better results. To reduce the risk of medical errors, you can       - Ask questions if you have doubts or concerns. Take a relative or friend to your doctor appointment to help you ask questions and understand answers.    - Make sure you understand what will happen if you need surgery    - Tell your health care providers about all the medicines you take, including over-the-counter drugs and dietary supplements. Tell them if you have any allergies or bad reactions to anesthesia. Make sure you know how to take your medications correctly.     - Get a second opinion about treatment options    - Keep a copy of your own health history       Agency for Healthcare Research and Quality


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[User] Is congenital plasminogen 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.


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[User] What is (are) Fetal Alcohol Spectrum Disorders ?

[Assistant] Alcohol can harm your baby at any stage during a pregnancy. That includes the earliest stages before you even know you are pregnant. Drinking alcohol can cause a group of conditions called fetal alcohol spectrum disorders (FASDs). Effects can include physical and behavioral problems such as trouble with       - Learning and remembering    - Understanding and following directions    - Controlling emotions    - Communicating and socializing    - Daily life skills, such as feeding and bathing       Fetal alcohol syndrome is the most serious type of FASD. People with fetal alcohol syndrome have facial abnormalities, including wide-set and narrow eyes, growth problems and nervous system abnormalities.    FASDs last a lifetime. There is no cure for FASDs. Treatments can help. These include medicines to help with some symptoms and behavior therapy. No one treatment is right for every child.    Centers for Disease Control and Prevention


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[User] What are the treatments for familial hemophagocytic lymphohistiocytosis ?

[Assistant] These resources address the diagnosis or management of familial hemophagocytic lymphohistiocytosis:  - Gene Review: Gene Review: Hemophagocytic Lymphohistiocytosis, Familial  - Genetic Testing Registry: Familial hemophagocytic lymphohistiocytosis  - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 2  - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 3  - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 4  - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial, 5  - The Merck Manual for Healthcare Professionals  - University of Minnesota: Pediatric Blood & Marrow Transplantation Center   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 mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes inherited ?

[Assistant] This condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.  In most cases, people with MELAS inherit an altered mitochondrial gene from their mother. Less commonly, the disorder results from a new mutation in a mitochondrial gene and occurs in people with no family history of MELAS.


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[User] What are the treatments for xeroderma pigmentosum ?

[Assistant] These resources address the diagnosis or management of xeroderma pigmentosum:  - American Cancer Society: How are Squamous and Basal Cell Skin Cancer Diagnosed?  - American Cancer Society: How is Melanoma Diagnosed?  - Gene Review: Gene Review: Xeroderma Pigmentosum  - Genetic Testing Registry: Xeroderma pigmentosum  - Genetic Testing Registry: Xeroderma pigmentosum, complementation group b  - Genetic Testing Registry: Xeroderma pigmentosum, group C  - Genetic Testing Registry: Xeroderma pigmentosum, group D  - Genetic Testing Registry: Xeroderma pigmentosum, group E  - Genetic Testing Registry: Xeroderma pigmentosum, group F  - Genetic Testing Registry: Xeroderma pigmentosum, group G  - Genetic Testing Registry: Xeroderma pigmentosum, type 1  - Genetic Testing Registry: Xeroderma pigmentosum, variant type  - MedlinePlus Encyclopedia: Xeroderma Pigmentosum  - National Cancer Institute: Melanoma Treatment  - National Cancer Institute: Skin Cancer Treatment  - Xeroderma Pigmentosum Society, Inc.: Beta Carotene  - Xeroderma Pigmentosum Society, Inc.: Ultraviolet Radiation and Protection   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