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

[User] What causes Urinary Incontinence in Children ?

[Assistant]
Daytime UI can be caused by a UTI or structural problems in the urinary tract. Daytime UI that is not associated with UTI or structural problems is less common and tends to disappear much earlier than nighttime UI. Overactive bladder and infrequent or incomplete voiding, or urination, are common causes of daytime UI.

Overactive Bladder

Overactive bladder is a condition in which a child experiences at least two of the following conditions:

- urinary urgencyinability to delay urination  - urge urinary incontinenceurinary leakage when the bladder contracts unexpectedly  - urinary frequencyurination eight or more times a day or more than twice at night

Infrequent or Incomplete Voiding

Infrequent voiding is when children voluntarily hold urine for prolonged periods of time. For example, children may not want to use the toilets at school or may not want to interrupt enjoyable activities, so they ignore the bodys signal of a full bladder. In these cases, the bladder can overfill and leak urine. In addition, these children often develop UTIs, leading to an irritated or overactive bladder.

Factors that may combine with infrequent voiding to produce daytime UI include

- small bladder capacity  - structural problems  - anxiety-causing events  - pressure from constipation  - drinks or foods that contain caffeine

Sometimes, overly demanding toilet training may make children unable to relax the sphincters enough to completely empty the bladder. Incomplete voiding may also lead to UTIs.


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[User] How to prevent Medullary Sponge Kidney ?

[Assistant] Scientists have not yet found a way to prevent medullary sponge kidney. However, health care providers can recommend medications and dietary changes to prevent future UTIs and kidney stones.


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[User] What are the genetic changes related to abdominal wall defect ?

[Assistant] No genetic mutations are known to cause an abdominal wall defect. Multiple genetic and environmental factors likely influence the development of this disorder. Omphalocele and gastroschisis are caused by different errors in fetal development.  Omphalocele occurs during an error in digestive tract development. During the formation of the abdominal cavity in the sixth to tenth weeks of fetal development, the intestines normally protrude into the umbilical cord but recede back into the abdomen as development continues. Omphalocele occurs when the intestines do not recede back into the abdomen, but remain in the umbilical cord. Other abdominal organs can also protrude through this opening, resulting in the varied organ involvement that occurs in omphalocele.  The error that leads to gastroschisis formation is unknown. It is thought to be either a disruption in the blood flow to the digestive tract or a lack of development or injury to gastrointestinal tissue early in fetal development. For reasons that are unknown, women under the age of 20 are at the greatest risk of having a baby with gastroschisis. Other risk factors in pregnancy may include taking medications that constrict the blood vessels (called vasoconstrictive drugs) or smoking, although these risk factors have not been confirmed.


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[User] What is (are) Nasopharyngeal Cancer ?

[Assistant]
Key Points
                    - Nasopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the nasopharynx.    - Ethnic background and being exposed to the Epstein-Barr virus can affect the risk of nasopharyngeal cancer.     - Signs of nasopharyngeal cancer include trouble breathing, speaking, or hearing.    - Tests that examine the nose and throat are used to detect (find) and diagnose nasopharyngeal cancer.    - Certain factors affect prognosis (chance of recovery) and treatment options.

                    Nasopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the nasopharynx.
                    The nasopharynx is the upper part of the pharynx (throat) behind the nose. The pharynx is a hollow tube about 5 inches long that starts behind the nose and ends at the top of the trachea (windpipe) and esophagus (the tube that goes from the throat to the stomach). Air and food pass through the pharynx on the way to the trachea or the esophagus. The nostrils lead into the nasopharynx. An opening on each side of the nasopharynx leads into an ear. Nasopharyngeal cancer most commonly starts in the squamous cells that line the nasopharynx.      Nasopharyngeal cancer is a type of head and neck cancer.


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[User] What are the treatments for Salivary Gland Cancer ?

[Assistant]
Key Points
                    - There are different types of treatment for patients with salivary gland cancer.     - Patients with salivary gland cancer should have their treatment planned by a team of doctors who are experts in treating head and neck cancer.    - Three types of standard treatment are used:         - Surgery      - Radiation therapy      - Chemotherapy         - New types of treatment are being tested in clinical trials.         - Radiosensitizers        - 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 salivary gland cancer.
                    Different types of treatment are available for patients with salivary gland cancer. 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.

                    Patients with salivary gland cancer should have their treatment planned by a team of doctors who are experts in treating head and neck cancer.
                    Your treatment will be overseen by a medical oncologist, a doctor who specializes in treating people with cancer. Because the salivary glands help in eating and digesting food, patients may need special help adjusting to the side effects of the cancer and its treatment. The medical oncologist may refer you to other doctors who have experience and expertise in treating patients with head and neck cancer and who specialize in certain areas of medicine. These include the following:         - Head and neck surgeon.    -  Radiation oncologist.    -  Dentist.    -  Speech therapist.    -  Dietitian.    -  Psychologist.    -  Rehabilitation specialist.    -  Plastic surgeon.

                    Three types of standard treatment are used:
                    Surgery      Surgery (removing the cancer in an operation) is a common treatment for salivary gland cancer. A doctor may remove the cancer and some of the healthy tissue around the cancer. In some cases, a lymphadenectomy (surgery in which lymph nodes are removed) will also be done.    Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given radiation therapy after surgery to kill any cancer cells that are left. Treatment given after surgery, to lower the risk that the cancer will come back, is called adjuvant therapy.       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. Special types of external radiation may be used to treat some salivary gland tumors. These include:                  -  Fast neutron radiation therapy: Fast neutron radiation therapy is a type of high-energy external radiation therapy. A radiation therapy machine aims neutrons (tiny, invisible particles) at the cancer cells to kill them. Fast neutron radiation therapy uses a higher-energy radiation than the x-ray type of radiation therapy. This allows the radiation therapy to be given in fewer treatments.       -  Photon-beam radiation therapy: Photon-beam radiation therapy is a type of external radiation therapy that reaches deep tumors with high-energy x-rays made by a machine called a linear accelerator. This can be delivered as hyperfractionated radiation therapy, in which the total dose of radiation is divided into small doses and the treatments are given more than once a day.                -  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 salivary gland cancer, and may also be used as palliative therapy to relieve symptoms and improve quality of life.       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). The way the chemotherapy is given depends on the type and stage of the cancer being treated.    See Drugs Approved for Head and Neck Cancer for more information. (Salivary gland cancer is a type of head and neck cancer.)

                    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.     Radiosensitizers     Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers may kill more tumor 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.

		            Treatment Options by Stage

		                    Stage I Salivary Gland Cancer
		                    Treatment for stage I salivary gland cancer depends on whether the cancer is low-grade (slow growing) or high-grade (fast growing).   If the cancer is low-grade, treatment may include the following:         -  Surgery with or without radiation therapy.    -  Fast neutron radiation therapy.        If the cancer is high-grade, treatment may include the following:         - Surgery with or without radiation therapy.    - A clinical trial of chemotherapy.    - A clinical trial of a new local therapy.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I salivary gland cancer. 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.

		                    Stage II Salivary Gland Cancer
		                    Treatment for stage II salivary gland cancer depends on whether the cancer is low-grade (slow growing) or high-grade (fast growing).   If the cancer is low-grade, treatment may include the following:         -  Surgery with or without radiation therapy.    - Radiation therapy.    -  Chemotherapy.        If the cancer is high-grade, treatment may include the following:         - Surgery with or without radiation therapy.    -  Fast neutron or photon-beam radiation therapy.    - A clinical trial of radiation therapy and/or radiosensitizers.    - A clinical trial of chemotherapy.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II salivary gland cancer. 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.

		                    Stage III Salivary Gland Cancer
		                    Treatment for stage III salivary gland cancer depends on whether the cancer is low-grade (slow growing) or high-grade (fast growing).   If the cancer is low-grade, treatment may include the following:         -  Surgery with or without lymphadenectomy. Radiation therapy may also be given after surgery.    - Radiation therapy.    -  Fast neutron radiation therapy to lymph nodes with cancer.    -  Chemotherapy.    - A clinical trial of fast neutron radiation therapy to the tumor.    - A clinical trial of chemotherapy.        If the cancer is high-grade, treatment may include the following:         - Surgery with or without lymphadenectomy. Radiation therapy may also be given after surgery.    - Fast neutron radiation therapy.    - Radiation therapy as palliative therapy to relieve symptoms and improve quality of life.    - A clinical trial of radiation therapy and/or radiosensitizers.    - A clinical trial of chemotherapy.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III salivary gland cancer. 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.

		                    Stage IV Salivary Gland Cancer
		                    Treatment of stage IV salivary gland cancer may include the following:         -  Fast neutron or photon-beam radiation therapy.    - A clinical trial of chemotherapy with or without radiation therapy.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV salivary gland cancer. 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 (are) ichthyosis with confetti ?

[Assistant] Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people. In childhood or adolescence, hundreds to thousands of small patches of normal skin appear, usually on the torso. The numerous pale spots surrounded by red skin look like confetti, giving the condition its name. The patches of normal skin increase in number and size over time.  In addition to red, scaly skin, people with ichthyosis with confetti typically have abnormally thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). Many affected individuals have excess hair (hirsutism) on some parts of the body, particularly on the arms and legs. Because of their skin abnormalities, people with ichthyosis with confetti are at increased risk of developing skin infections.


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[User] What is (are) Hereditary Spastic Paraplegia ?

[Assistant] Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Early in the disease course, there may be mild gait difficulties and stiffness. These symptoms typically slowly progress so that eventually individuals with HSP may require the assistance of a cane, walker, or wheelchair. Though the primary features of "pure" HSP are progressive lower limb spasticity and weakness, complicated forms may be accompanied by other symptoms. These additional symptoms include impaired vision due to cataracts and problems with the optic nerve and retina of the eye, ataxia (lack of muscle coordination), epilepsy, cognitive impairment, peripheral neuropathy, and deafness. The diagnosis of HSP is primarily by neurological examination and testing to rule out other disorders. Brain MRI abnormalities, such as a thin corpus callosum, may be seen in some of the complicated forms of HSP. Several genetic mutations have been identified which underlie various forms of HSP, and specialized genetic testing and diagnosis are available at some medical centers. HSP has several forms of inheritance. Not all children in a family will necessarily develop symptoms, although they may be carriers of the abnormal gene. Symptoms may begin in childhood or adulthood, depending on the particular HSP gene involved.


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[User] What are the genetic changes related to spastic paraplegia type 11 ?

[Assistant] Mutations in the SPG11 gene cause spastic paraplegia type 11. The SPG11 gene provides instructions for making the protein spatacsin. Spatacsin is active (expressed) throughout the nervous system, although its exact function is unknown. Researchers speculate that spatacsin may be involved in the maintenance of axons, which are specialized extensions of nerve cells (neurons) that transmit impulses throughout the nervous system.  SPG11 gene mutations typically change the structure of the spatacsin protein. The effect that the altered spatacsin protein has on the nervous system is not known. Researchers suggest that mutations in spatacsin may cause the signs and symptoms of spastic paraplegia type 11 by interfering with the protein's proposed role in the maintenance of axons.


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[User] Who is at risk for Endocarditis? ?

[Assistant]
Infective endocarditis (IE) is an uncommon condition that can affect both children and adults. It's more common in men than women.

IE typically affects people who have abnormal hearts or other conditions that put them at risk for the infection. Sometimes IE does affect people who were healthy before the infection.

Major Risk Factors

The germs that cause IE tend to attach and multiply on damaged, malformed, or artificial (man-made) heart valves and implanted medical devices. Certain conditions put you at higher risk for IE. These include:

Congenital heart defects (defects that are present at birth). Examples include a malformed heart or abnormal heart valves.

Artificial heart valves, an implanted medical device in the heart (such as a pacemaker wire), or an intravenous (IV) catheter (tube) in a blood vessel for a long time.

Heart valves damaged by rheumatic fever or calcium deposits that cause age-related valve thickening. Scars in the heart from a previous case of IE also can damage heart valves.

IV drug use, especially if needles are shared or reused, contaminated substances are injected, or the skin isn't properly cleaned before injection.


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[User] What are the symptoms of GRACILE syndrome ?

[Assistant] What are the signs and symptoms of GRACILE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for GRACILE syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of iron homeostasis 90% Abnormality of the renal tubule 90% Aminoaciduria 90% Cirrhosis 90% Hearing impairment 90% Hepatic steatosis 90% Abnormality of hair texture 50% Aminoaciduria 20/20 Cholestasis 19/20 Neonatal hypotonia 3/20 Chronic lactic acidosis - Increased serum ferritin - Increased serum iron - Increased serum pyruvate - Intrauterine growth retardation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for autosomal recessive hypotrichosis ?

[Assistant] These resources address the diagnosis or management of autosomal recessive hypotrichosis:  - American Academy of Dermatology: Hair Loss: Tips for Managing  - Genetic Testing Registry: Hypotrichosis 8   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 Niemann-Pick disease ?

[Assistant] These resources address the diagnosis or management of Niemann-Pick disease:  - Baby's First Test  - Gene Review: Gene Review: Acid Sphingomyelinase Deficiency  - Gene Review: Gene Review: Niemann-Pick Disease Type C  - Genetic Testing Registry: Niemann-Pick disease type C1  - Genetic Testing Registry: Niemann-Pick disease type C2  - Genetic Testing Registry: Niemann-Pick disease, type A  - Genetic Testing Registry: Niemann-Pick disease, type B  - Genetic Testing Registry: Niemann-Pick disease, type C  - Genetic Testing Registry: Niemann-Pick disease, type D  - Genetic Testing Registry: Niemann-pick disease, intermediate, protracted neurovisceral  - Genetic Testing Registry: Sphingomyelin/cholesterol lipidosis  - MedlinePlus Encyclopedia: Niemann-Pick Disease   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] Do you have information about Steroids

[Assistant] Summary : You may have heard of anabolic steroids, which can have harmful effects. But there's another type of steroid - sometimes called a corticosteroid - that treats a variety of problems. These steroids are similar to hormones that your adrenal glands make to fight stress associated with illnesses and injuries. They reduce inflammation and affect the immune system.     You may need to take corticosteroids to treat       -  Arthritis    -  Asthma    -  Autoimmune diseases such as lupus and multiple sclerosis    -  Skin conditions such as eczema and rashes    -  Some kinds of cancer       Steroids are strong medicines, and they can have side effects, including weakened bones and cataracts. Because of this, you usually take them for as short a time as possible.


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[User] What are the stages of Langerhans Cell Histiocytosis ?

[Assistant]
Key Points
                    - There is no staging system for Langerhans cell histiocytosis (LCH).    - Treatment of LCH is based on where LCH cells are found in the body and how many body systems are affected.

                    There is no staging system for Langerhans cell histiocytosis (LCH).
                    The extent or spread of cancer is usually described as stages. There is no staging system for LCH.

                    Treatment of LCH is based on where LCH cells are found in the body and how many body systems are affected.
                    LCH is described as single-system disease or multisystem disease, depending on how many body systems are affected:          -  Single-system LCH: LCH is found in one part of an organ or body system (unifocal) or in more than one part of that organ or body system (multifocal). Bone is the most common single place for LCH to be found.    -  Multisystem LCH: LCH occurs in two or more organs or body systems or may be spread throughout the body. Multisystem LCH is less common than single-system LCH.        LCH may affect low-risk organs or high-risk organs:         -  Low-risk organs include the skin, bone, lungs, lymph nodes, gastrointestinal tract, pituitary gland, and central nervous system (CNS).    -  High-risk organs include the liver, spleen, and bone marrow.


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[User] What are the symptoms of Usher syndrome, type 1B ?

[Assistant] What are the signs and symptoms of Usher syndrome, type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent vestibular function - Autosomal recessive inheritance - Heterogeneous - Motor delay - Rod-cone dystrophy - Sensorineural hearing impairment - Undetectable electroretinogram - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) neutral lipid storage disease with myopathy ?

[Assistant] Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. People with this condition have muscle weakness (myopathy) due to the accumulation of fats in muscle tissue. Other features of this condition may include a fatty liver, a weakened and enlarged heart (cardiomyopathy), inflammation of the pancreas (pancreatitis), reduced thyroid activity (hypothyroidism), and type 2 diabetes mellitus (the most common form of diabetes). Signs and symptoms of neutral lipid storage disease with myopathy vary greatly among affected individuals.


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[User] Do you have information about Laser Eye Surgery

[Assistant] Summary : For many people, laser eye surgery can correct their vision so they no longer need glasses or contact lenses. Laser eye surgery reshapes the cornea, the clear front part of the eye. This changes its focusing power.    There are different types of laser eye surgery. LASIK - laser-assisted in situ keratomileusis - is one of the most common. Many patients who have LASIK end up with 20/20 vision. But, like all medical procedures, it has both risks and benefits. Only your eye doctor can tell if you are a good candidate for laser eye surgery.


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[User] What are the genetic changes related to mitochondrial neurogastrointestinal encephalopathy disease ?

[Assistant] Mutations in the TYMP gene (previously known as ECGF1) cause MNGIE disease. This gene provides instructions for making an enzyme called thymidine phosphorylase. Thymidine is a molecule known as a nucleoside, which (after a chemical modification) is used as a building block of DNA. Thymidine phosphorylase breaks down thymidine into smaller molecules, which helps regulate the level of nucleosides in cells.  TYMP mutations greatly reduce or eliminate the activity of thymidine phosphorylase. A shortage of this enzyme allows thymidine to build up to very high levels in the body. Researchers believe that an excess of this molecule is damaging to a particular kind of DNA known as mitochondrial DNA or mtDNA. 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.  Mitochondria use nucleosides, including thymidine, to build new molecules of mtDNA as needed. A loss of thymidine phosphorylase activity and the resulting buildup of thymidine disrupt the usual maintenance and repair of mtDNA. As a result, mutations can accumulate in mtDNA, causing it to become unstable. Additionally, mitochondria may have less mtDNA than usual (mtDNA depletion). These genetic changes impair the normal function of mitochondria. Although mtDNA abnormalities underlie the digestive and neurological problems characteristic of MNGIE disease, it is unclear how defective mitochondria cause the specific features of the disorder.


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[User] What is the outlook for Aphasia ?

[Assistant] The outcome of aphasia is difficult to predict given the wide range of variability of the condition. Generally, people who are younger or have less extensive brain damage fare better. The location of the injury is also important and is another clue to prognosis. In general, people tend to recover skills in language comprehension more completely than those skills involving expression.


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[User] What is (are) Diabetes, Heart Disease, and Stroke ?

[Assistant]
Diabetes is a disorder of metabolismthe way our bodies use digested food for energy. Most of the food we eat is broken down into glucose, the form of sugar in the blood. Glucose is the body's main source of fuel.

After digestion, glucose enters the bloodstream. Then glucose goes to cells throughout the body where it is used for energy. However, a hormone called insulin must be present to allow glucose to enter the cells. Insulin is a hormone produced by the pancreas, a large gland behind the stomach.

In people who do not have diabetes, the pancreas automatically produces the right amount of insulin to move glucose from blood into the cells. However, diabetes develops when the pancreas does not make enough insulin, or the cells in the muscles, liver, and fat do not use insulin properly, or both. As a result, the amount of glucose in the blood increases while the cells are starved of energy.

Over time, high blood glucose levels damage nerves and blood vessels, leading to complications such as heart disease and stroke, the leading causes of death among people with diabetes. Uncontrolled diabetes can eventually lead to other health problems as well, such as vision loss, kidney failure, and amputations.


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[User] What is (are) myoclonic epilepsy with ragged-red fibers ?

[Assistant] Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family.  MERRF is characterized by muscle twitches (myoclonus), weakness (myopathy), and progressive stiffness (spasticity). When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells are called ragged-red fibers. Other features of MERRF include recurrent seizures (epilepsy), difficulty coordinating movements (ataxia), a loss of sensation in the extremities (peripheral neuropathy), and slow deterioration of intellectual function (dementia). People with this condition may also develop hearing loss or optic atrophy, which is the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain. Affected individuals sometimes have short stature and a form of heart disease known as cardiomyopathy. Less commonly, people with MERRF develop fatty tumors, called lipomas, just under the surface of the skin.


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[User] What is (are) optic atrophy type 1 ?

[Assistant] Optic atrophy type 1 is a condition that affects vision. Individuals with this condition have progressive vision loss that typically begins within the first decade of life. The severity of the vision loss varies widely among affected people, even among members of the same family. People with this condition can range from having nearly normal vision to complete blindness. The vision loss usually progresses slowly.  People with optic atrophy type 1 frequently have problems with color vision that make it difficult or impossible to distinguish between shades of blue and green. Other vision problems associated with this condition include a progressive narrowing of the field of vision (tunnel vision) and an abnormally pale appearance (pallor) of the nerve that relays visual information from the eye to the brain (optic nerve). Optic nerve pallor can be detected during an eye examination.


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[User] What are the treatments for X-linked lissencephaly with abnormal genitalia ?

[Assistant] These resources address the diagnosis or management of X-linked lissencephaly with abnormal genitalia:  - Genetic Testing Registry: Lissencephaly 2, X-linked   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What is (are) Pain ?

[Assistant] Pain is a feeling triggered in the nervous system. Pain may be sharp or dull. It may come and go, or it may be constant. You may feel pain in one area of your body, such as your back, abdomen or chest or you may feel pain all over, such as when your muscles ache from the flu.    Pain can be helpful in diagnosing a problem. Without pain, you might seriously hurt yourself without knowing it, or you might not realize you have a medical problem that needs treatment. Once you take care of the problem, pain usually goes away. However, sometimes pain goes on for weeks, months or even years. This is called chronic pain. Sometimes chronic pain is due to an ongoing cause, such as cancer or arthritis. Sometimes the cause is unknown.    Fortunately, there are many ways to treat pain. Treatment varies depending on the cause of pain. Pain relievers, acupuncture and sometimes surgery are helpful.


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[User] What are the symptoms of STING-associated vasculopathy with onset in infancy ?

[Assistant] What are the signs and symptoms of STING-associated vasculopathy with onset in infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for STING-associated vasculopathy with onset in infancy. 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) Arthralgia 5% Joint stiffness 5% Myalgia 5% Myositis 5% Anemia - Cutis marmorata - Elevated erythrocyte sedimentation rate - Erythema - Failure to thrive - Fever - Follicular hyperplasia - Growth delay - Increased antibody level in blood - Interstitial pulmonary disease - Leukopenia - Nail dystrophy - Pustule - Recurrent respiratory infections - Telangiectasia - Thrombocytosis - 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) polycythemia vera ?

[Assistant] Polycythemia vera is a condition characterized by an increased number of red blood cells in the bloodstream. Affected individuals may also have excess white blood cells and blood clotting cells called platelets. These extra cells cause the blood to be thicker than normal. As a result, abnormal blood clots are more likely to form and block the flow of blood through arteries and veins. Individuals with polycythemia vera have an increased risk of deep vein thrombosis (DVT), a type of blood clot that occurs in the deep veins of the arms or legs. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Affected individuals also have an increased risk of heart attack and stroke caused by blood clots in the heart and brain.  Polycythemia vera typically develops in adulthood, around age 60, although in rare cases it occurs in children and young adults. This condition may not cause any symptoms in its early stages. Some people with polycythemia vera experience headaches, dizziness, ringing in the ears (tinnitus), impaired vision, or itchy skin. Affected individuals frequently have reddened skin because of the extra red blood cells. Other complications of polycythemia vera include an enlarged spleen (splenomegaly), stomach ulcers, gout (a form of arthritis caused by a buildup of uric acid in the joints), heart disease, and cancer of blood-forming cells (leukemia).


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[User] Is Stormorken syndrome inherited ?

[Assistant] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases 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] What is (are) Erythema multiforme ?

[Assistant] Erythema multiforme (EM) refers to a group of hypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN).


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[User] What is (are) Wyburn Mason's syndrome ?

[Assistant] Wyburn Mason's syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain.  These malformed blood vessels are called arteriovenous malformations (AVM).  Wyburn Mason's syndrome is present from birth (congenital) and the cause is unknown.  Individuals with this condition may have additional AVMs in other parts of the body, particularly the face.  The symptoms of this condition are quite variable and depend on the size, location, and shape of the AVMs.  Affected individuals may have no symptoms or may experience headaches, problems with vision, seizures, or partial paralysis (hemiparesis).  Treatment usually consists of periodic visits to the doctor to see if the AVMs are changing over time.


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[User] Is alveolar capillary dysplasia with misalignment of pulmonary veins inherited ?

[Assistant] ACD/MPV is usually not inherited, and most affected people have no history of the disorder in their family. The genetic changes associated with this condition usually occur during the formation of reproductive cells (eggs and sperm) or in early fetal development. When the condition is caused by a FOXF1 gene mutation or deletion, one altered or missing gene in each cell is sufficient to cause the disorder. Individuals with ACD/MPV do not pass the genetic change on to their children because they do not live long enough to reproduce.  A few families have been identified in which more than one sibling has ACD/MPV. It is not clear how ACD/MPV is inherited in these families because no genetic changes have been identified.


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[User] What are the genetic changes related to Pol III-related leukodystrophy ?

[Assistant] Pol III-related leukodystrophy is caused by mutations in the POLR3A or POLR3B gene. These genes provide instructions for making the two largest parts (subunits) of an enzyme called RNA polymerase III. This enzyme is involved in the production (synthesis) of ribonucleic acid (RNA), a chemical cousin of DNA. The RNA polymerase III enzyme attaches (binds) to DNA and synthesizes RNA in accordance with the instructions carried by the DNA, a process called transcription. RNA polymerase III helps synthesize several forms of RNA, including ribosomal RNA (rRNA) and transfer RNA (tRNA). Molecules of rRNA and tRNA assemble protein building blocks (amino acids) into working proteins; this process is essential for the normal functioning and survival of cells.  Researchers suggest that mutations in the POLR3A or POLR3B gene may impair the ability of subunits of the RNA polymerase III enzyme to assemble properly or result in an RNA polymerase III with impaired ability to bind to DNA. Reduced function of the RNA polymerase III molecule likely affects development and function of many parts of the body, including the nervous system and the teeth, but the relationship between POLR3A and POLR3B gene mutations and the specific signs and symptoms of Pol III-related leukodystrophy is unknown.


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[User] What are the treatments for Oculopharyngeal muscular dystrophy ?

[Assistant] How might oculopharyngeal muscular dystrophy be treated? Treatment of oculopharyngeal muscular dystrophy (OPMD) mainly focuses on the specific signs and symptoms present in each individual. Severe drooping of the eyelid (ptosis) may be treated with plastic surgery on the eyelid (blepharoplasty). The goal of this surgery is to raise the eyelid so that the affected individual can see. Individuals with severe difficulty swallowing (dysphagia) may have a surgical procedure known as cricopharyngeal myotomy. In this procedure, the cricopharyngeal muscle of the throat is cut so that when swallowing occurs, the muscle remains relaxed allowing the passage of food or liquid. Orthopedic devices such as canes, leg braces, or walkers can assist individuals who have difficulty walking. Other treatment is symptomatic and supportive.


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[User] How many people are affected by mucolipidosis type IV ?

[Assistant] Mucolipidosis type IV is estimated to occur in 1 in 40,000 people. About 70 percent of affected individuals have Ashkenazi Jewish ancestry.


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[User] What is (are) Gaucher disease ?

[Assistant] Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.  Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.  Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2.  The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.  Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).


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[User] are there complications from botulism?

[Assistant] Botulism can result in death due to respiratory failure. However, in the past 50 years the proportion of patients with botulism who die has fallen from about 50% to 3-5%. A patient with severe botulism may require a breathing machine as well as intensive medical and nursing care for several months, and some patients die from infections or other problems related to remaining paralyzed for weeks or months. Patients who survive an episode of botulism poisoning may have fatigue and shortness of breath for years and long-term therapy may be needed to aid recovery.


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[User] Is Juvenile Huntington disease inherited ?

[Assistant] How is Juvenile Huntington disease (HD) inherited? Juvenile HD is inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. As the altered HTT gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms (anticipation). A larger number of repeats is usually associated with an earlier onset of signs and symptoms. Most often, children with juvenile HD inherit the expanded CAG trinucleotide repeat from their fathers, although on occasion they inherit it from their mothers.


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[User] What is (are) MYH9-related disorder ?

[Assistant] MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts).  The bleeding problems in people with MYH9-related disorder are due to thrombocytopenia. Thrombocytopenia is a reduced level of circulating platelets, which are cell fragments that normally assist with blood clotting. People with MYH9-related disorder typically experience easy bruising, and affected women have excessive bleeding during menstruation (menorrhagia). The platelets in people with MYH9-related disorder are larger than normal. These enlarged platelets have difficulty moving into tiny blood vessels like capillaries. As a result, the platelet level is even lower in these small vessels, further impairing clotting.  Some people with MYH9-related disorder develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss may be present from birth or can develop anytime into late adulthood.  An estimated 30 to 70 percent of people with MYH9-related disorder develop renal disease, usually beginning in early adulthood. The first sign of renal disease in MYH9-related disorder is typically protein or blood in the urine. Renal disease in these individuals particularly affects structures called glomeruli, which are clusters of tiny blood vessels that help filter waste products from the blood. The resulting damage to the kidneys can lead to kidney failure and end-stage renal disease (ESRD).  Some affected individuals develop cataracts in early adulthood that worsen over time.  Not everyone with MYH9-related disorder has all of the major features. All individuals with MYH9-related disorder have thrombocytopenia and enlarged platelets. Most commonly, affected individuals will also have hearing loss and renal disease. Cataracts are the least common sign of this disorder.  MYH9-related disorder was previously thought to be four separate disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome. All of these disorders involved thrombocytopenia and enlarged platelets and were distinguished by some combination of hearing loss, renal disease, and cataracts. When it was discovered that these four conditions all had the same genetic cause, they were combined and renamed MYH9-related disorder.


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[User] Is Loeys-Dietz syndrome inherited ?

[Assistant] Loeys-Dietz syndrome is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder.  In about 75 percent of cases, this disorder results from a new gene mutation and occurs in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent.


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[User] What to do for Celiac Disease ?

[Assistant]
Eating, diet, and nutrition play a significant role in treating celiac disease. People with the disease should maintain a gluten-free diet by avoiding products that contain gluten. In other words, a person with celiac disease should not eat most grains, pasta, and cereal, and many processed foods.

People with celiac disease can eat a wellbalanced diet with a variety of foods. They can use potato, rice, soy, amaranth, quinoa, buckwheat, or bean flour instead of wheat flour. They can buy gluten-free bread, pasta, and other products from stores, or order products from special food companies. Meanwhile, "plain"meaning no additives or seasoningsmeat, fish, rice, fruits, and vegetables do not contain gluten, so people with celiac disease can eat these foods.

In the past, health care providers and dietitians advised people with celiac disease to avoid eating oats. Evidence suggests that most people with the disease can safely eat small amounts of oats, as long as the oats are not contaminated with wheat gluten during processing. People with celiac disease should talk with their health care team when deciding whether to include oats in their diet.

Eating out and shopping can be a challenge. Newly diagnosed people and their families may find support groups helpful as they adjust to a new approach to eating. People with celiac disease should

- read food labelsespecially canned, frozen, and processed foodsfor ingredients that contain gluten  - avoid ingredients such as hydrolyzed vegetable protein, also called lecithin or soy lecithin  - ask restaurant servers and chefs about ingredients and food preparation inquire whether a gluten-free menu is available  - ask a dinner or party host about glutenfree options before attending a social gathering

Foods that are packaged as gluten-free tend to cost more than the same foods containing gluten. People following a gluten-free diet may find that naturally gluten-free foods are less expensive. With practice, looking for gluten can become second nature.

The Gluten-free Diet: Some Examples

The Academy of Nutrition and Dietetics has published recommendations for a glutenfree diet. The following chart illustrates these recommendations. This list is not complete, so people with celiac disease should discuss gluten-free food choices with a dietitian or health care professional who specializes in celiac disease. People with celiac disease should always read food ingredient lists carefully to make sure the food does not contain gluten.

Table 1. Gluten-free foods and foods that contain gluten

Foods and Ingredients That Contain Gluten         barley rye triticale (a cross between wheat and rye) wheat, including          - including einkorn, emmer, spelt, kamut      - wheat starch, wheat bran, wheat germ, cracked wheat, hydrolyzed wheat protein        brewer's yeast dextrin malt (unless a gluten-free source is named, such as corn malt) modified food starch oats (not labeled gluten-free) starch         Other Wheat Products That Contain Gluten         bromated flour durum flour enriched flour farina    graham flour phosphated flour plain flour    self-rising flour semolina white flour        Processed Foods That May Contain Wheat, Barley, or Rye*         bouillon cubes brown rice syrup candy chewing gum chips/potato chips cold cuts, hot dogs, salami, sausage    communion wafers french fries gravies imitation fish matzo and matzo meal rice mixes    sauces seasoned tortilla chips self-basting turkey soups soy sauce vegetables in sauce        *Most of these foods can be found gluten-free. When in doubt, check with the food manufacturer.         Food Products and Ingredients Made from Barley*         ale beer malt malt beverages    malted milk malt extract malt syrup malt vinegar    other fermented beverages porter stout        *People should only consume these foods if they are labeled gluten-freesuch as sorghum-based beeror they list a grain source other than barley, wheat, or ryesuch as corn malt.         Foods That Do Not Contain Gluten         amaranth arrowroot buckwheat cassava corn flax    legumes lentils millet nuts oats (labeled gluten-free) potatoes    quinoa rice sago seeds sorghum soy    tapioca tef (or teff) wild rice yucca

Food Labeling Requirements   On August 2, 2013, the U.S. Food and Drug Administration (FDA) published a new regulation defining the term "glutenfree" for voluntary food labeling. This new federal definition standardizes the meaning of "gluten-free" foods regulated by the FDA. Foods regulated by the U.S. Department of Agriculture, including meat and egg products, are not subject to this regulation. The regulation requires that any food with the term "gluten-free" on the label must meet all of the requirements of the definition, including that the food should contain fewer than 20 parts per million of gluten. The FDA rule also requires foods with the claims "no gluten," "free of gluten," and "without gluten" to meet the definition for "gluten-free."   If a food that is labeled "gluten-free" includes "wheat" on the ingredients list or "contains wheat" after the list, the following statement must be included on the label: "The wheat has been processed to allow this food to meet the Food and Drug Administration requirements for gluten-free food." If this statement is included, people with celiac disease may consume foods labeled "gluten-free."


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[User] Is Buschke Ollendorff syndrome inherited ?

[Assistant] How is Buschke Ollendorff syndrome inherited? Buschke Ollendorff syndrome (BOS) is caused by mutations in the LEMD3 gene and is inherited in an autosomal dominant manner. This means that only one changed (mutated) copy of the gene in each cell is sufficient for a person to be affected by the condition. An affected individual may have inherited a mutated copy of the LEMD3 gene from an affected parent, or they may have been born with a new (de novo) mutation. There is a 50% (1 in 2) chance for each child of an affected individual to inherit the mutated gene, and a 50% chance for each child  to not inherit the mutated gene. It has been proposed that the inheritance of BOS shows incomplete penetrance. Penetrance refers to the proportion of people with a particular genetic change (such as a mutation in a specific gene) who exhibit signs and symptoms of a genetic disorder. If some people with the mutation do not develop features of the disorder, the condition is said to have reduced (or incomplete) penetrance. Reduced penetrance probably results from a combination of genetic, environmental, and lifestyle factors, many of which are unknown. This phenomenon can make it challenging for genetics professionals to interpret a persons family medical history and predict the risk of passing a genetic condition to future generations. This means that not all individuals who have a new or inherited mutation in the LEMD3 gene will necessarily develop signs and symptoms of BOS.


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[User] What is (are) Health Disparities ?

[Assistant] Health disparities refer to differences in the health status of different groups of people. Some groups of people have higher rates of certain diseases, and more deaths and suffering from them, compared to others. These groups may be based on       - Race    - Ethnicity    - Immigrant status    - Disability    - Sex or gender    - Sexual orientation    - Geography    - Income       NIH: National Institute on Minority Health and Health Disparities


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[User] Is holocarboxylase synthetase 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 genetic changes related to Lynch syndrome ?

[Assistant] Variations in the MLH1, MSH2, MSH6, PMS2, or EPCAM gene increase the risk of developing Lynch syndrome.  The MLH1, MSH2, MSH6, and PMS2 genes are involved in the repair of mistakes that occur when DNA is copied in preparation for cell division (a process called DNA replication). Mutations in any of these genes prevent the proper repair of DNA replication mistakes. As the abnormal cells continue to divide, the accumulated mistakes can lead to uncontrolled cell growth and possibly cancer.  Mutations in the EPCAM gene also lead to impaired DNA repair, although the gene is not itself involved in this process. The EPCAM gene lies next to the MSH2 gene on chromosome 2; certain EPCAM gene mutations cause the MSH2 gene to be turned off (inactivated), interrupting DNA repair and leading to accumulated DNA mistakes.  Although mutations in these genes predispose individuals to cancer, not all people who carry these mutations develop cancerous tumors.


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[User] What is (are) achromatopsia ?

[Assistant] Achromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows some color discrimination.  Achromatopsia also involves other problems with vision, including an increased sensitivity to light and glare (photophobia), involuntary back-and-forth eye movements (nystagmus), and significantly reduced sharpness of vision (low visual acuity). Affected individuals can also have farsightedness (hyperopia) or, less commonly, nearsightedness (myopia). These vision problems develop in the first few months of life.  Achromatopsia is different from the more common forms of color vision deficiency (also called color blindness), in which people can perceive color but have difficulty distinguishing between certain colors, such as red and green.


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[User] What is (are) Lupus Nephritis ?

[Assistant] Lupus nephritis is kidney inflammation caused by systemic lupus erythematosus (SLE or lupus). SLE is an autoimmune diseasea disorder in which the bodys immune system attacks the bodys own cells and organs. Up to 60 percent of people with SLE are diagnosed with lupus nephritis, which can lead to significant illness and even death.1


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[User] What is (are) hereditary cerebral amyloid angiopathy ?

[Assistant] Hereditary cerebral amyloid angiopathy is a condition that can cause a progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood. Due to neurological decline, this condition is typically fatal in one's sixties, although there is variation depending on the severity of the signs and symptoms. Most affected individuals die within a decade after signs and symptoms first appear, although some people with the disease have survived longer.  There are many different types of hereditary cerebral amyloid angiopathy. The different types are distinguished by their genetic cause and the signs and symptoms that occur. The various types of hereditary cerebral amyloid angiopathy are named after the regions where they were first diagnosed.  The Dutch type of hereditary cerebral amyloid angiopathy is the most common form. Stroke is frequently the first sign of the Dutch type and is fatal in about one third of people who have this condition. Survivors often develop dementia and have recurrent strokes. About half of individuals with the Dutch type who have one or more strokes will have recurrent seizures (epilepsy).  People with the Flemish and Italian types of hereditary cerebral amyloid angiopathy are prone to recurrent strokes and dementia. Individuals with the Piedmont type may have one or more strokes and typically experience impaired movements, numbness or tingling (paresthesias), confusion, or dementia.  The first sign of the Icelandic type of hereditary cerebral amyloid angiopathy is typically a stroke followed by dementia. Strokes associated with the Icelandic type usually occur earlier than the other types, with individuals typically experiencing their first stroke in their twenties or thirties.  Strokes are rare in people with the Arctic type of hereditary cerebral amyloid angiopathy, in which the first sign is usually memory loss that then progresses to severe dementia. Strokes are also uncommon in individuals with the Iowa type. This type is characterized by memory loss, problems with vocabulary and the production of speech, personality changes, and involuntary muscle twitches (myoclonus).  Two types of hereditary cerebral amyloid angiopathy, known as familial British dementia and familial Danish dementia, are characterized by dementia and movement problems. Strokes are uncommon in these types. People with the Danish type may also have clouding of the lens of the eyes (cataracts) or deafness.


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[User] What are the symptoms of Ataxia with Oculomotor Apraxia Type 2 ?

[Assistant] What are the signs and symptoms of Ataxia with Oculomotor Apraxia Type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia with Oculomotor Apraxia 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) Impaired distal tactile sensation 57% Tremor 57% Strabismus 30% Conjunctival telangiectasia 5% Areflexia 10/10 Cerebellar atrophy 8/8 Distal amyotrophy 10/10 Distal muscle weakness 10/10 Dysarthria 10/10 Dysphagia 10/10 Elevated alpha-fetoprotein 6/6 Gait ataxia 10/10 Impaired proprioception 10/10 Peripheral axonal neuropathy 8/8 Nystagmus 8/10 Pes cavus 12/18 Oculomotor apraxia 10/18 Scoliosis 7/18 Dystonia 5/18 Head tremor 5/19 Chorea 4/18 Hyporeflexia 4/18 Abnormal pyramidal signs - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Elevated serum creatine phosphokinase - Gaze-evoked nystagmus - Impaired distal vibration sensation - Increased antibody level in blood - Limb ataxia - Polyneuropathy - Pontocerebellar atrophy - Progressive - Progressive gait ataxia - Saccadic smooth pursuit - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] How to diagnose Parasites - African Trypanosomiasis (also known as Sleeping Sickness) ?

[Assistant]
The diagnosis of African Trypanosomiasis is made through laboratory methods, because the clinical features of infection are not sufficiently specific. The diagnosis rests on finding the parasite in body fluid or tissue by microscopy. The parasite load in T. b. rhodesiense infection is substantially higher than the level in T. b. gambiense infection.

T. b. rhodesiense parasites can easily be found in blood. They can also be found in lymph node fluid or in fluid or biopsy of a chancre. Serologic testing is not widely available and is not used in the diagnosis, since microscopic detection of the parasite is straightforward.

The classic method for diagnosing T. b. gambiense infection is by microscopic examination of lymph node aspirate, usually from a posterior cervical node. It is often difficult to detect T. b. gambiense in blood. Concentration techniques and serial examinations are frequently needed. Serologic testing is available outside the U.S. for T. b. gambiense; however, it normally is used for screening purposes only and the definitive diagnosis rests on microscopic observation of the parasite.

All patients diagnosed with African trypanosomiasis must have their cerebrospinal fluid examined to determine whether there is involvement of the central nervous system, since the choice of treatment drug(s) will depend on the disease stage. The World Health Organization criteria for central nervous system involvement include increased protein in cerebrospinal fluid and a white cell count of more than 5. Trypanosomes can often be observed in cerebrospinal fluid in persons with second stage infection.

More on: Resources for Health Professionals: Diagnosis


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[User] What are the genetic changes related to acatalasemia ?

[Assistant] Mutations in the CAT gene can cause acatalasemia. This gene provides instructions for making the enzyme catalase, which breaks down hydrogen peroxide molecules into oxygen and water. Hydrogen peroxide is produced through chemical reactions within cells. At low levels, it is involved in several chemical signaling pathways, but at high levels it is toxic to cells. If hydrogen peroxide is not broken down by catalase, additional reactions convert it into compounds called reactive oxygen species that can damage DNA, proteins, and cell membranes.  Mutations in the CAT gene greatly reduce the activity of catalase. A shortage of this enzyme can allow hydrogen peroxide to build up to toxic levels in certain cells. For example, hydrogen peroxide produced by bacteria in the mouth may accumulate in and damage soft tissues, leading to mouth ulcers and gangrene. A buildup of hydrogen peroxide may also damage beta cells of the pancreas, which release a hormone called insulin that helps control blood sugar. Malfunctioning beta cells are thought to underlie the increased risk of type 2 diabetes mellitus in people with acatalasemia. It is unclear why some people have no health problems associated with a loss of catalase activity.  Many people with reduced catalase activity do not have an identified mutation in the CAT gene; in these cases, the cause of the condition is unknown. Researchers believe that other genetic and environmental factors can also influence the activity of catalase.


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[User] How many people are affected by congenital sucrase-isomaltase deficiency ?

[Assistant] The prevalence of congenital sucrase-isomaltase deficiency is estimated to be 1 in 5,000 people of European descent. This condition is much more prevalent in the native populations of Greenland, Alaska, and Canada, where as many as 1 in 20 people may be affected.


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[User] How many people are affected by recombinant 8 syndrome ?

[Assistant] Recombinant 8 syndrome is a rare condition; its exact incidence is unknown. Most people with this condition are descended from a Hispanic population originating in the San Luis Valley area of southern Colorado and northern New Mexico. Recombinant 8 syndrome is also called San Luis Valley syndrome. Only a few cases outside this population have been found.


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[User] What is the outlook for Congenital Myopathy ?

[Assistant] When breathing difficulties are severe, and particularly if there is also a problem with feeding and swallowing, infants may die of respiratory failure or complications such as pneumonia. Sometimes muscle weakness can lead to skeletal problems, such as scoliosis, reduced mobility of joints, or hip problems. The heart muscle is rarely involved.


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[User] Do you have information about Health Insurance

[Assistant] Summary : Health insurance helps protect you from high medical care costs. It is a contract between you and your insurance company. You buy a plan or policy, and the company agrees to pay part of your expenses when you need medical care.    Many people in the United States get a health insurance policy through their employers. In most cases, the employer helps pay for that insurance. Insurance through employers is often with a managed care plan. These plans contract with health care providers and medical facilities to provide care for members at reduced costs. You can also purchase health insurance on your own.    People who meet certain requirements can qualify for government health insurance, such as Medicare and Medicaid. The Affordable Care Act expands health insurance coverage for many people in the U.S.


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[User] what research (or clinical trials) is being done for Klver-Bucy Syndrome ?

[Assistant] NINDS supports and conducts research on neurobehavioral disorders such as Klver-Bucy syndrome. Much of the research focuses on learning more about these disorders and finding ways to prevent and treat them.


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[User] What are the symptoms of Dopa-responsive dystonia ?

[Assistant] What are the signs and symptoms of Dopa-responsive dystonia? The most common form of dopa-responsive dystonia (DRD) is autosomal dominant DRD (caused by a mutation in the GCH1 gene). This form of DRD is usually characterized by childhood-onset dystonia that may be associated with parkinsonism at an older age. The average age of onset is 6 years, and females are 2-4 times more likely than males to be affected. Symptoms usually begin with lower limb dystonia, resulting in gait problems that can cause stumbling and falling. Symptoms are often worse later in the day, a phenomenon known as diurnal fluctuation. In rare cases, the first symptom may be arm dystonia, tremor of the hands, slowness of movements, or cervical dystonia. This form of DRD usually progresses to affect the whole body, and some people also develop parkinsonism. Depression, anxiety, sleep disturbances and obsessive-compulsive disorder have been reported in some people. Intellectual function is normal. Those with onset at older ages tend to be more mildly affected. Another form of DRD is due to a rare condition called sepiapterin reductase deficiency, which is inherited in an autosomal recessive manner. This form of DRD is also characterized by dystonia with diurnal fluctuations, but also affects motor and cognitive development. Onset usually occurs before the first year of life. Sleep disturbances and psychological symptoms (anxiety, irritability) are common later in childhood. A third form of DRD is autosomal recessive DRD, also called tyrosine hydroxylase deficiency. This form is characterized by a spectrum of symptoms, ranging from those seen in the autosomal dominant form to progressive infantile encephalopathy. Onset is usually in infancy. Intellectual disability, developmental motor delay, and various other features may be present. The Human Phenotype Ontology provides the following list of signs and symptoms for Dopa-responsive dystonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Hypertonia 90% 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 Larsen syndrome inherited ?

[Assistant] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.  Autosomal recessive inheritance of Larsen syndrome has been reported in a small number of families. Autosomal recessive 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. In some of these cases, the appearance of autosomal recessive inheritance may actually result from multiple siblings in a family each inheriting a single altered gene from an unaffected parent who has an FLNB mutation only in some or all of their sperm or egg cells. When a mutation is present only in reproductive cells, it is known as germline mosaicism.  A few rarer conditions with overlapping signs and symptoms and autosomal recessive inheritance have sometimes been diagnosed as Larsen syndrome, but they are now generally considered to be different disorders because they are typically more severe and are not caused by FLNB gene mutations.


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[User] How many people are affected by Carney complex ?

[Assistant] Carney complex is a rare disorder; fewer than 750 affected individuals have been identified.


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[User] What are the genetic changes related to hereditary angioedema ?

[Assistant] Mutations in the SERPING1 gene cause hereditary angioedema type I and type II. The SERPING1 gene provides instructions for making the C1 inhibitor protein, which is important for controlling inflammation. C1 inhibitor blocks the activity of certain proteins that promote inflammation. Mutations that cause hereditary angioedema type I lead to reduced levels of C1 inhibitor in the blood, while mutations that cause type II result in the production of a C1 inhibitor that functions abnormally. Without the proper levels of functional C1 inhibitor, excessive amounts of a protein fragment (peptide) called bradykinin are generated. Bradykinin promotes inflammation by increasing the leakage of fluid through the walls of blood vessels into body tissues. Excessive accumulation of fluids in body tissues causes the episodes of swelling seen in individuals with hereditary angioedema type I and type II.  Mutations in the F12 gene are associated with some cases of hereditary angioedema type III. This gene provides instructions for making a protein called coagulation factor XII. In addition to playing a critical role in blood clotting (coagulation), factor XII is also an important stimulator of inflammation and is involved in the production of bradykinin. Certain mutations in the F12 gene result in the production of factor XII with increased activity. As a result, more bradykinin is generated and blood vessel walls become more leaky, which leads to episodes of swelling in people with hereditary angioedema type III.  The cause of other cases of hereditary angioedema type III remains unknown. Mutations in one or more as-yet unidentified genes may be responsible for the disorder in these cases.


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[User] How to diagnose Ectopic Kidney ?

[Assistant]
A health care provider may use one or more of the following imaging tests to diagnose an ectopic kidney:

- Ultrasound. An ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging; anesthesia is not needed. The images can show the location of the kidneys.  - Intravenous pyelogram (IVP). An IVP is an x ray of the urinary tract. A special dye, called contrast medium, is injected into a vein in the persons arm, travels through the body to the kidneys, and makes urine visible on the x ray. The procedure is performed in a health care providers office, outpatient center, or hospital by an x-ray technician, and the images are interpreted by a radiologist; anesthesia is not needed. An IVP can show a blockage in the urinary tract. In children, ultrasounds are usually done instead of IVPs.  - Voiding cystourethrogram (VCUG). A VCUG is an x-ray image of the bladder and urethra taken while the bladder is full and during urination, also called voiding. The bladder and urethra are filled with contrast medium to make the structures clearly visible on the x-ray images. The x-ray machine captures images of the contrast medium while the bladder is full and when the person urinates. The procedure is performed in a health care providers office, outpatient center, or hospital by an x-ray technician supervised by a radiologist, who then interprets the images. Anesthesia is not needed, but sedation may be used for some people. The test can show abnormalities of the inside of the urethra and bladder and whether urine is backing up toward the kidneys during urination.  - Radionuclide scan. A radionuclide scan is an imaging technique that relies on the detection of small amounts of radiation after injection of radioactive chemicals. Because the dose of the radioactive chemicals is small, the risk of causing damage to cells is low. Special cameras and computers are used to create images of the radioactive chemicals as they pass through the kidneys. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed. This test can show the location of an ectopic kidney and whether the ureters are blocked.  - Magnetic resonance imaging (MRI). MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. An MRI may include the injection of contrast medium. With most MRI machines, the person lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines are designed to allow the person to lie in a more open space. The procedure is performed in an outpatient center or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed though light sedation may be used for people with a fear of confined spaces. MRIs can show the location of the kidneys.

In addition to imaging tests, blood tests may be done to determine how well the kidneys are working. These tests are almost always normal in people with an ectopic kidney, even if it is badly damaged, because the other kidney usually has completely normal function.


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[User] How many people are affected by carnitine-acylcarnitine translocase deficiency ?

[Assistant] CACT deficiency is very rare; at least 30 cases have been reported.


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[User] What causes Bronchiolitis obliterans organizing pneumonia ?

[Assistant] What causes bronchiolitis obliterans organizing pneumonia (BOOP)? BOOP may be caused by a variety of factors, including viral infections, inhalation of toxic gases, drugs, connective tissue disorders, radiation therapy, cocaine, inflammatory bowl disease, and HIV infection. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia (COP).


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[User] What are the treatments for Waldenstrm macroglobulinemia ?

[Assistant] These resources address the diagnosis or management of Waldenstrm macroglobulinemia:  - American Cancer Society: How is Waldenstrom Macroglobulinemia Diagnosed?  - American Cancer Society: How is Waldenstrom Macroglobulinemia Treated?  - Genetic Testing Registry: Waldenstrom macroglobulinemia  - MD Anderson Cancer Center  - MedlinePlus Encyclopedia: Macroglobulinemia of Waldenstrom   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the symptoms of Osteogenesis imperfecta type I ?

[Assistant] What are the signs and symptoms of Osteogenesis imperfecta type I? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type I. 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) Dentinogenesis imperfecta 5% Aortic dilatation - Autosomal dominant inheritance - Biconcave flattened vertebrae - Blue sclerae - Bruising susceptibility - Femoral bowing - Growth abnormality - Hearing impairment - Increased susceptibility to fractures - Joint hypermobility - Mitral valve prolapse - Osteopenia - Otosclerosis - Recurrent fractures - Thin skin - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the stages of Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ?

[Assistant]
Key Points
                    - There is no standard staging system for central nervous system atypical teratoid/rhabdoid tumor.

                    There is no standard staging system for central nervous system atypical teratoid/rhabdoid tumor.
                    The extent or spread of cancer is usually described as stages. There is no standard staging system for central nervous system atypical teratoid/rhabdoid tumor.    For treatment, this tumor is grouped as newly diagnosed or recurrent. Treatment depends on the following:         - The age of the child.    - How much cancer remains after surgery to remove the tumor.        Results from the following procedure are also used to plan treatment:         -   Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs, such as the kidney, and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. This procedure is done to check for tumors that may also have formed in the kidney.


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[User] What is the outlook for Nasopharyngeal Cancer ?

[Assistant] Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following:         - The stage of the cancer (whether it affects part of the nasopharynx, involves the whole nasopharynx, or has spread to other places in the body).     - The type of nasopharyngeal cancer.     - The size of the tumor.    - The patients age and general health.


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

[Assistant] Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes 26 to 28 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder.  CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that loss of the ELN gene is associated with the connective tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis) found in many people with this disease. Studies suggest that deletion of CLIP2, GTF2I, GTF2IRD1, LIMK1, and perhaps other genes may help explain the characteristic difficulties with visual-spatial tasks, unique behavioral characteristics, and other cognitive difficulties seen in people with Williams syndrome. Loss of the GTF2IRD1 gene may also contribute to the distinctive facial features often associated with this condition.  Researchers believe that the presence or absence of the NCF1 gene on chromosome 7 is related to the risk of developing hypertension in people with Williams syndrome. When the NCF1 gene is included in the part of the chromosome that is deleted, affected individuals are less likely to develop hypertension. Therefore, the loss of this gene appears to be a protective factor. People with Williams syndrome whose NCF1 gene is not deleted have a higher risk of developing hypertension.  The relationship between other genes in the deleted region of chromosome 7 and the signs and symptoms of Williams syndrome is under investigation or unknown.


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[User] Is Hallermann-Streiff syndrome inherited ?

[Assistant] How is Hallermann-Streiff syndrome inherited? The majority of cases of Hallermann-Streiff syndrome appear to be sporadic (occurring in individuals with no history of the condition in the family). There have been reports of affected individuals having multiple, unaffected children. Although some have reported it appears to be inherited in an autosomal recessive manner in a small number of cases, others have argued that there is little evidence for this being a recessively inherited disorder. Therefore, the mode of inheritance of the condition remains unclear.


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[User] What is (are) Coats disease ?

[Assistant] Coats disease is an eye disorder characterized by abnormal development of the blood vessels in the retina (retinal telangiectasia). Most affected people begin showing symptoms of the condition in childhood. Early signs and symptoms vary but may include vision loss, crossed eyes (strabismus), and a white mass in the pupil behind the lens of the eye (leukocoria). Overtime, coats disease may also lead to retinal detachment, glaucoma, and clouding of the lens of the eye (cataracts) as the disease progresses. In most cases, only one eye is affected (unilateral). The exact underlying cause is not known but some cases may be due to somatic mutations in the NDP gene. Treatment depends on the symptoms present and may include cryotherapy, laser therapy, and/or surgery.


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[User] Do you have information about Surgery

[Assistant] Summary : There are many reasons to have surgery. Some operations can relieve or prevent pain. Others can reduce a symptom of a problem or improve some body function. Some surgeries are done to find a problem. For example, a surgeon may do a biopsy, which involves removing a piece of tissue to examine under a microscope. Some surgeries, like heart surgery, can save your life.    Some operations that once needed large incisions (cuts in the body) can now be done using much smaller cuts. This is called laparoscopic surgery. Surgeons insert a thin tube with a camera to see, and use small tools to do the surgery.    After surgery there can be a risk of complications, including infection, too much bleeding, reaction to anesthesia, or accidental injury. There is almost always some pain with surgery.    Agency for Healthcare Research and Quality


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[User] Is Lesch Nyhan syndrome inherited ?

[Assistant] How is Lesch Nyhan syndrome inherited? Lesch Nyhan syndrome is inherited in an X-linked recessive manner. A condition is X-linked if the changed (mutated) gene responsible for the condition is located on the X chromosome. The X chromosome is one of the two sex chromosomes; females have two X chromosomes, and males have one X and one Y chromosome. Females who have one mutated copy of the responsible gene (on one of their X chromosomes) usually do not have the condition and are referred to as carriers. This is because they still have a working copy of the responsible gene on their other X chromosome. Males with one mutated copy of the responsible gene have signs and symptoms of the condition (they are affected) because they do not have another X chromosome with a working copy of the gene. This is why X-linked recessive disorders, including Lesch Nyhan syndrome, occur much more frequently in males. Lesch Nyhan syndrome is caused by mutations in the HPRT1 gene. A female who is a carrier of Lesch Nyhan syndrome has a 50% chance of passing on the mutated HPRT1 gene in each pregnancy. This is because a carrier female will randomly pass on one of her X chromosome to each child. Sons who inherit the mutated gene will be affected, and daughters who inherit the mutated gene will be carriers. This means that with each pregnancy, a female who is a carrier has a: 50% (1 in 2) chance of having an unaffected son or daughter 25% (1 in 4) chance of having an affected son 25% chance of having a carrier daughter