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[User] What are the treatments for Gestational Trophoblastic Disease ?

[Assistant]
Key Points
                    -  There are different types of treatment for patients with gestational trophoblastic disease.    - Three types of standard treatment are used:         - Surgery     - Chemotherapy      - Radiation therapy         - New types of treatment are being tested in clinical trials.     - 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 gestational trophoblastic disease.
                    Different types of treatment are available for patients with gestational trophoblastic disease. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. Before starting treatment, patients may want to think about taking part in a clinical trial. 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.   Clinical trials are taking place in many parts of the country. Information about ongoing clinical trials is available from the NCI website. Choosing the most appropriate cancer treatment is a decision that ideally involves the patient, family, and health care team.

                    Three types of standard treatment are used:
                    Surgery    The doctor may remove the cancer using one of the following operations:            -  Dilatation and curettage (D&C) with suction evacuation: A surgical procedure to remove abnormal tissue and parts of the inner lining of the uterus. The cervix is dilated and the material inside the uterus is removed with a small vacuum-like device. The walls of the uterus are then gently scraped with a curette (spoon-shaped instrument) to remove any material that may remain in the uterus. This procedure may be used for molar pregnancies.     -  Hysterectomy: Surgery to remove the uterus, and sometimes the cervix. If the uterus and cervix are taken out through the vagina, the operation is called a vaginal hysterectomy. If the uterus and cervix are taken out through a large incision (cut) in the abdomen, the operation is called a total abdominal hysterectomy. If the uterus and cervix are taken out through a small incision (cut) in the abdomen using a laparoscope, the operation is called a total laparoscopic hysterectomy.              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, or whether the tumor is low-risk or high-risk.     Combination chemotherapy is treatment using more than one anticancer drug.    Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy after surgery to kill any tumor cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy.    See Drugs Approved for Gestational Trophoblastic Disease for more information.       Radiation therapy      Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy:            -  External radiation therapy uses a machine outside the body to send radiation toward the cancer.     -  Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer.           The way the radiation therapy is given depends on the type of gestational trophoblastic disease being treated. External radiation therapy is used to treat gestational trophoblastic disease.

                    New types of treatment are being tested in clinical trials.
                    Information about ongoing clinical trials is available from the NCI website.

                    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.    Blood levels of beta human chorionic gonadotropin (-hCG) will be checked for up to 6 months after treatment has ended. This is because a -hCG level that is higher than normal may mean that the tumor has not responded to treatment or it has become cancer.

		            Treatment Options for Gestational Trophoblastic Disease

		                    Hydatidiform Moles
		                    Treatment of a hydatidiform mole may include the following:         -  Surgery (Dilatation and curettage with suction evacuation) to remove the tumor.        After surgery, beta human chorionic gonadotropin (-hCG) blood tests are done every week until the -hCG level returns to normal. Patients also have follow-up doctor visits monthly for up to 6 months. If the level of -hCG does not return to normal or increases, it may mean the hydatidiform mole was not completely removed and it has become cancer. Pregnancy causes -hCG levels to increase, so your doctor will ask you not to become pregnant until follow-up is finished.   For disease that remains after surgery, treatment is usually chemotherapy.   Check the list of NCI-supported cancer clinical trials that are now accepting patients with hydatidiform mole. 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.

		                    Gestational Trophoblastic Neoplasia
		                    Low-risk Gestational Trophoblastic Neoplasia    Treatment of low-risk gestational trophoblastic neoplasia (GTN) (invasive mole or choriocarcinoma) may include the following:            -  Chemotherapy with one or more anticancer drugs. Treatment is given until the beta human chorionic gonadotropin (-hCG) level is normal for at least 3 weeks after treatment ends.           If the level of -hCG in the blood does not return to normal or the tumor spreads to distant parts of the body, chemotherapy regimens used for high-risk metastatic GTN are given.    Check the list of NCI-supported cancer clinical trials that are now accepting patients with low risk metastatic gestational trophoblastic tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.       High-risk Metastatic Gestational Trophoblastic Neoplasia    Treatment of high-risk metastatic gestational trophoblastic neoplasia (invasive mole or choriocarcinoma) may include the following:            -  Combination chemotherapy.     -  Intrathecal chemotherapy and radiation therapy to the brain (for cancer that has spread to the lung, to keep it from spreading to the brain).     -  High-dose chemotherapy or intrathecal chemotherapy and/or radiation therapy to the brain (for cancer that has spread to the brain).           Check the list of NCI-supported cancer clinical trials that are now accepting patients with high risk metastatic gestational trophoblastic tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.       Placental-Site Gestational Trophoblastic Tumors and Epithelioid Trophoblastic Tumors    Treatment of stage I placental-site gestational trophoblastic tumors and epithelioid trophoblastic tumors may include the following:            -  Surgery to remove the uterus.           Treatment of stage II placental-site gestational trophoblastic tumors and epithelioid trophoblastic tumors may include the following:            - Surgery to remove the tumor, which may be followed by combination chemotherapy.           Treatment of stage III and IV placental-site gestational trophoblastic tumors and epithelioid trophoblastic tumors may include following:            - Combination chemotherapy.     - Surgery to remove cancer that has spread to other places, such as the lung or abdomen.           Check the list of NCI-supported cancer clinical trials that are now accepting patients with placental-site gestational trophoblastic tumor and epithelioid trophoblastic tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.

		                    Recurrent or Resistant Gestational Trophoblastic Neoplasia
		                    Treatment of recurrent or resistant gestational trophoblastic tumor may include the following:         -  Chemotherapy with one or more anticancer drugs for tumors previously treated with surgery.    -  Combination chemotherapy for tumors previously treated with chemotherapy.    - Surgery for tumors that do not respond to chemotherapy.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent gestational trophoblastic tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.


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[User] What are the treatments for multiple pterygium syndrome ?

[Assistant] These resources address the diagnosis or management of multiple pterygium syndrome:  - Genetic Testing Registry: Lethal multiple pterygium syndrome  - Genetic Testing Registry: Multiple pterygium syndrome Escobar type   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] How many people are affected by succinate-CoA ligase deficiency ?

[Assistant] Although the exact prevalence of succinate-CoA ligase deficiency is unknown, it appears to be very rare. This condition occurs more frequently among people from the Faroe Islands in the North Atlantic Ocean.


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[User] What are the symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina ?

[Assistant] What are the signs and symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina. 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 retinal pigmentation 90% Abnormality of the eyelashes 90% Abnormality of the genital system 90% Anterior hypopituitarism 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Heterochromia iridis 90% Intrauterine growth retardation 90% Nystagmus 90% Thick eyebrow 90% Truncal obesity 90% Visual impairment 90% Fine hair 50% Frontal bossing 50% Prominent occiput 50% Synophrys 50% Autosomal recessive inheritance - Central heterochromia - Cryptorchidism - Delayed puberty - Distal amyotrophy - Distal muscle weakness - Growth hormone deficiency - Hypogonadotrophic hypogonadism - Hypoplasia of penis - Intellectual disability - Long eyebrows - Long eyelashes - Peripheral axonal neuropathy - Pigmentary retinal degeneration - Severe short stature - Small for gestational age - 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) Insulin Resistance and Prediabetes ?

[Assistant]
Insulin is a hormone made in the pancreas, an organ located behind the stomach. The pancreas contains clusters of cells called islets. Beta cells within the islets make insulin and release it into the blood.

Insulin plays a major role in metabolismthe way the body uses digested food for energy. The digestive tract breaks down carbohydratessugars and starches found in many foodsinto glucose. Glucose is a form of sugar that enters the bloodstream. With the help of insulin, cells throughout the body absorb glucose and use it for energy.

Insulin's Role in Blood Glucose Control

When blood glucose levels rise after a meal, the pancreas releases insulin into the blood. Insulin and glucose then travel in the blood to cells throughout the body.

- Insulin helps muscle, fat, and liver cells absorb glucose from the bloodstream, lowering blood glucose levels.  - Insulin stimulates the liver and muscle tissue to store excess glucose. The stored form of glucose is called glycogen.  - Insulin also lowers blood glucose levels by reducing glucose production in the liver.

In a healthy person, these functions allow blood glucose and insulin levels to remain in the normal range.


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[User] What is (are) Amyloidosis ?

[Assistant] Amyloidosis occurs when abnormal proteins called amyloids build up and form deposits. The deposits can collect in organs such as the kidney and heart. This can cause the organs to become stiff and unable to work the way they should.     There are three main types of amyloidosis:       - Primary - with no known cause    - Secondary - caused by another disease, including some types of cancer    - Familial - passed down through genes       Symptoms can vary, depending upon which organs are affected. Treatment depends on the type of amyloidosis you have. The goal is to help with symptoms and limit the production of proteins. If another disease is the cause, it needs to be treated.


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[User] What is the outlook for Melkersson-Rosenthal Syndrome ?

[Assistant] Melkersson-Rosenthal syndrome may recur intermittently after its first appearance. It can become a chronic disorder. Follow-up care should exclude the development of Crohn's disease or sarcoidosis.


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[User] What is (are) ADNP syndrome ?

[Assistant] ADNP syndrome, also known as Helsmoortel-van der Aa syndrome, is a complex neuro-developmental disorder that affects the brain and many other areas and functions of the body. ADNP syndrome can affect muscle tone, feeding, growth, hearing, vision, sleep, fine and gross motor skills, as well as the immune system, heart, endocrine system, and gastrointestinal tract.[1] ADNP syndrome causes behavior disorders such as Autism Spectrum Disorder (ASD). ADNP is caused by a non-inherited (de novo) ADNP gene mutation. ADNP syndrome is thought to be one of the most common causes of non-inherited genetic autism.[1]


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[User] What to do for Kidney Stones in Children ?

[Assistant]
Families may benefit from meeting with a dietitian to learn how dietary management can help in preventing stones. Depending on the underlying cause of the stone formation, medications may be necessary to prevent recurrent stones. Dietary changes and medications may be required for a long term or, quite often, for life. Some common changes include the following:

- Children who tend to make calcium oxalate stones or have hypercalciuria should eat a regular amount of dietary calcium and limit salt intake. A thiazide diuretic medication may be given to some children to reduce the amount of calcium leaking into the urine.  - Children who have large amounts of oxalate in the urine may need to limit foods high in oxalate, such as chocolate, peanut butter, and dark-colored soft drinks.  - Children who form uric acid or cystine stones may need extra potassium citrate or potassium carbonate in the form of a pill or liquid medication. Avoiding foods high in purinessuch as meat, fish, and shellfishmay also help prevent uric acid stones.


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[User] What are the treatments for glutamate formiminotransferase deficiency ?

[Assistant] These resources address the diagnosis or management of glutamate formiminotransferase deficiency:  - Baby's First Test  - Genetic Testing Registry: Glutamate formiminotransferase deficiency   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What to do for Ectopic Kidney ?

[Assistant] - An ectopic kidney is a birth defect in which a kidney is located below, above, or on the opposite side of its usual position.  - Factors that may lead to an ectopic kidney include      - poor development of a kidney bud    - a defect in the kidney tissue responsible for prompting the kidney to move to its usual position    - genetic abnormalities    - the mother being sick or being exposed to an agent, such as a drug or chemical, that causes birth defects    - An ectopic kidney may not cause any symptoms and may function normally, even though it is not in its usual position.  - Possible complications of an ectopic kidney include problems with urine drainage from that kidney. Abnormal urine flow and the placement of the ectopic kidney can lead to various problems such as infection, stones, kidney damage, and injury from trauma.  - No treatment for an ectopic kidney is needed if urinary function is normal and no blockage of the urinary tract is present. Surgery or other treatment may be needed if there is an obstruction, reflux, or extensive damage to the kidney.


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[User] What are the symptoms of Balance Problems ?

[Assistant] If you have a balance disorder, you may stagger when you try to walk, or teeter or fall when you try to stand up. You might experience other symptoms such as -  dizziness or vertigo (a spinning sensation)  -  falling or feeling as if you are going to fall  -  lightheadedness, faintness, or a floating sensation  -  blurred vision  -  confusion or disorientation.  dizziness or vertigo (a spinning sensation) falling or feeling as if you are going to fall lightheadedness, faintness, or a floating sensation blurred vision confusion or disorientation. Other symptoms might include nausea and vomiting, diarrhea, changes in heart rate and blood pressure, and fear, anxiety, or panic. Symptoms may come and go over short time periods or last for a long time, and can lead to fatigue and depression.


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[User] What are the symptoms of Skin Cancer ?

[Assistant] Skin cancer is usually visible. Changes in your skin, such as lumps, scabs, red spots, rough patches, or new or irregular moles should be reported to your doctor. You should also see a doctor if you have a mole, birthmark, or other pigmented area of skin that can be classified by the ABCDE symptom system. ABCDE stands for Melanoma skin cancer is more difficult to treat, so it is important to check for signs and seek treatment as soon as possible. Use the following ABCDE rule to remember the symptoms of melanoma. See a doctor if you have a mole, birthmark, or other pigmented area of skin with  A = Asymmetry. One half of the mole looks different than the other half. (top left image)  B = Border. The edges are often ragged, notched, or blurred in outline. The pigment may spread into the surrounding skin. (top right image)  C = Color. The mole is more than one color. Shades of black, brown, and tan may be present. Areas of white, gray, red, pink, or blue may also be seen.(bottom left image)   D = Diameter.There is a change in size, usually an increase. Melanomas can be tiny, but most are larger than the size of a pea (larger than 6 millimeters or about 1/4 inch). (bottom right image)   E = Evolving. The mole has changed over the past few weeks or months. Other symptoms of skin cancer include a bleeding mole or the appearance of more moles around the first one.


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[User] What are the symptoms of Mollaret meningitis ?

[Assistant] What are the symptoms of Mollaret meningitis? The symptoms of Mollaret meningitis are the same as those found in other types of meningitis. In Mollaret meningitis, however, the symptoms are recurring and are often accompanied by long-term irregularity of the nervous system. Common symptoms of meningitis may include: High fever  Severe headache Nausea Vomiting Stiff neck Photophobia (sensitivity to light) Altered mental state


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[User] What is the outlook for Childhood Brain Stem Glioma ?

[Assistant] Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis and treatment options depend on:         - The type of brain stem glioma.    - Where the tumor is found in the brain and if it has spread within the brain stem.    - The age of the child when diagnosed.    - Whether or not the child has a condition called neurofibromatosis type 1.    - Whether the tumor has just been diagnosed or has recurred (come back).


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[User] What causes Nance-Horan syndrome ?

[Assistant] What causes Nance-Horan syndrome? Nance-Horan syndrome is caused by a mutation in the NHS gene, which is located on the X chromosome. Some patients have losses (deletions) of part of the chromosome X short arm (p) within the region involving the NHS gene and other genes that are located in this region. These patients may have more problems and the problems may be more serious.


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[User] what research (or clinical trials) is being done for Incontinentia Pigmenti ?

[Assistant] Researchers have begun to use genetic linkage studies to map the location of genes associated with the neurocutaneous disorders. Research supported by the NINDS includes studies to understand how the brain and nervous system normally develop and function and how they are affected by genetic mutations. These studies contribute to a greater understanding of gene-linked disorders such as IP, and have the potential to open promising new avenues of treatment.


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[User] What are the treatments for Buschke Ollendorff syndrome ?

[Assistant] How might Buschke Ollendorff syndrome be treated? There is currently no cure for BOS. Surgical removal of lesions on or under the skin may be done for cosmetic purposes. In some patients, surgical treatment of deafness may be possible. Surgery might also be necessary for some of the signs or symptoms associated with BOS. Osteopoikilosis is typically asymptomatic, but about 15-20% of individuals experience pain and joint effusions (fluid build-up). Usually, no special restrictions in activity are required for individuals with BOS.[3150]


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[User] What are the genetic changes related to pyruvate dehydrogenase deficiency ?

[Assistant] The genes involved in pyruvate dehydrogenase deficiency each provide instructions for making a protein that is a component of a group of proteins called the pyruvate dehydrogenase complex. This complex plays an important role in the pathways that convert the energy from food into a form that cells can use. The pyruvate dehydrogenase complex converts a molecule called pyruvate, which is formed from the breakdown of carbohydrates, into another molecule called acetyl-CoA. This conversion is essential to begin the series of chemical reactions that produce energy for cells.  The pyruvate dehydrogenase complex is made up of multiple copies of several enzymes called E1, E2, and E3, each of which performs part of the chemical reaction that converts pyruvate to acetyl-CoA. In addition, other proteins included in the complex ensure its proper function. One of these proteins, E3 binding protein, attaches E3 to the complex and provides the correct structure for the complex to perform its function. Other associated proteins control the activity of the complex: pyruvate dehydrogenase phosphatase turns on (activates) the complex, while pyruvate dehydrogenase kinase turns off (inhibits) the complex.  The E1 enzyme, also called pyruvate dehydrogenase, is composed of four parts (subunits): two alpha subunits (called E1 alpha) and two beta subunits (called E1 beta). Mutations in the gene that provides instructions for making E1 alpha, the PDHA1 gene, are the most common cause of pyruvate dehydrogenase deficiency, accounting for approximately 80 percent of cases. These mutations lead to a shortage of E1 alpha protein or result in an abnormal protein that cannot function properly. A decrease in functional E1 alpha leads to reduced activity of the pyruvate dehydrogenase complex.  Other components of the pyruvate dehydrogenase complex are also involved in pyruvate dehydrogenase deficiency. Mutations in the genes that provide instructions for E1 beta (the PDHB gene), the E2 enzyme (the DLAT gene), E3 binding protein (the PDHX gene), and pyruvate dehydrogenase phosphatase (the PDP1 gene) have been identified in people with this condition. Although it is unclear how mutations in each of these genes affect the complex, reduced functioning of one component of the complex appears to impair the activity of the whole complex. As with PDHA1 gene mutations, changes in these other genes lead to a reduction of pyruvate dehydrogenase complex activity.  With decreased function of this complex, pyruvate builds up and is converted in another chemical reaction to lactic acid. The excess lactic acid causes lactic acidosis in affected individuals. In addition, the production of cellular energy is diminished. The brain, which requires especially large amounts of energy, is severely affected, resulting in the neurological problems associated with pyruvate dehydrogenase deficiency.


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[User] What is (are) 47, XYY syndrome ?

[Assistant] 47, XYY syndrome is a condition in males characterized by features that occur due to having an extra copy of the Y chromosome in each cell. Signs and symptoms can vary and range from barely noticeable to more severe; many men with the extra Y chromosome are completely unaware of its presence. Appearance and intelligence are usually normal, but learning disabilities may be present. Other signs and symptoms may include autism spectrum disorder (usually on the milder end); speech or motor delay; low muscle tone; asthma; tall stature; impaired social skills; ADHD; and/or anxiety or mood disorders. While sexual development and infertility is usually normal, some adolescents and adults have testicular failure. 47, XYY syndrome usually is not inherited, occurring due to a random event in the formation of a sperm cell prior to conception. Management depends on the symptoms in each person and may include intervention or therapies for developmental delays, behavior or mood disorders; and/or special education.


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[User] What are the treatments for Russell-Silver syndrome ?

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


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[User] How many people are affected by molybdenum cofactor deficiency ?

[Assistant] Molybdenum cofactor deficiency is a rare condition that is estimated to occur in 1 in 100,000 to 200,000 newborns worldwide. More than 100 cases have been reported in the medical literature, although it is thought that the condition is underdiagnosed, so the number of affected individuals may be higher.


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[User] What to do for Adrenal Insufficiency and Addison's Disease ?

[Assistant] - Adrenal insufficiency is an endocrine, or hormonal, disorder that occurs when the adrenal glands do not produce enough of certain hormones.   - Addisons disease, the common term for primary adrenal insufficiency, occurs when the adrenal glands are damaged and cannot produce enough of the adrenal hormone cortisol. The adrenal hormone aldosterone may also be lacking.   - Secondary adrenal insufficiency occurs when the pituitary gland fails to produce enough adrenocorticotropin (ACTH), a hormone that stimulates the adrenal glands to produce cortisol. If ACTH output is too low, cortisol production drops.   - The most common symptoms of adrenal insufficiency are chronic fatigue, muscle weakness, loss of appetite, weight loss, and abdominal pain. The slowly progressing symptoms are often ignored until a stressful event, such as surgery, a severe injury, an illness, or pregnancy, causes them to worsen.   - If not treated, an adrenal crisis can cause death.   - A diagnosis of adrenal insufficiency is confirmed through hormonal blood and urine tests. Imaging studies of the adrenal and pituitary glands can be useful in helping to establish the cause.   - Adrenal insufficiency is treated by replacing, or substituting, the hormones that the adrenal glands are not making.   - Problems can occur in people with adrenal insufficiency who are undergoing surgery, suffer a severe injury, have an illness, or are pregnant. These conditions place additional stress on the body, and people with adrenal insufficiency may need additional treatment to respond and recover.   - People with adrenal insufficiency should always carry identification stating their condition, adrenal insufficiency, in case of an emergency, as well as the supplies necessary to administer an emergency corticosteroid injection.


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[User] Is 5q minus syndrome inherited ?

[Assistant] This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation. Affected people typically have no history of the disorder in their family.


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[User] What are the symptoms of Rh Incompatibility ?

[Assistant]
Rh incompatibility doesn't cause signs or symptoms in a pregnant woman. In a baby, the condition can lead to hemolytic anemia. Hemolytic anemia is a condition in which red blood cells are destroyed faster than the body can replace them.

Red blood cells contain hemoglobin (HEE-muh-glow-bin), an iron-rich protein that carries oxygen to the body. Without enough red blood cells and hemoglobin, the baby won't get enough oxygen.

Hemolytic anemia can cause mild to severe signs and symptoms in a newborn, such as jaundice and a buildup of fluid.

Jaundice is a yellowish color of the skin and whites of the eyes. When red blood cells die, they release hemoglobin into the blood. The hemoglobin is broken down into a compound called bilirubin. This compound gives the skin and eyes a yellowish color. High levels of bilirubin can lead to brain damage in the baby.

The buildup of fluid is a result of heart failure. Without enough hemoglobin-carrying red blood cells, the baby's heart has to work harder to move oxygen-rich blood through the body. This stress can lead to heart failure.

Heart failure can cause fluid to build up in many parts of the body. When this occurs in a fetus or newborn, the condition is called hydrops fetalis (HI-drops fe-TAL-is).

Severe hemolytic anemia can be fatal to a newborn at the time of birth or shortly after.


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[User] What are the symptoms of Primary orthostatic tremor ?

[Assistant] What are the signs and symptoms of Primary orthostatic tremor? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary orthostatic tremor. 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) EMG abnormality 90% Flexion contracture 90% Tremor 90% Myalgia 50% Abnormality of extrapyramidal motor function 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the symptoms of Pars planitis ?

[Assistant] What are the signs and symptoms of pars planitis? Pars planitis is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. Approximately 80% of cases are bilateral (affecting both eyes), although one eye is typically more affected than the other. As the condition advances, cataracts, retinal detachment, or macular edema (fluid within the retina) may develop.


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[User] What is (are) T-cell immunodeficiency, congenital alopecia, and nail dystrophy ?

[Assistant] T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. People with this form of SCID are missing functional immune cells called T cells, which normally recognize and attack foreign invaders to prevent infection. Without functional T cells, affected individuals develop repeated and persistent infections starting early in life. The infections result in slow growth and can be life-threatening; without effective treatment, most affected individuals live only into infancy or early childhood.  T-cell immunodeficiency, congenital alopecia, and nail dystrophy also affects growth of the hair and nails. Congenital alopecia refers to an absence of hair that is apparent from birth. Affected individuals have no scalp hair, eyebrows, or eyelashes. Nail dystrophy is a general term that describes malformed fingernails and toenails; in this condition, the nails are often ridged, pitted, or abnormally curved.  Researchers have described abnormalities of the brain and spinal cord (central nervous system) in at least two cases of this condition. However, it is not yet known whether central nervous system abnormalities are a common feature of T-cell immunodeficiency, congenital alopecia, and nail dystrophy.


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[User] What are the symptoms of Ectodermal dysplasia with natal teeth Turnpenny type ?

[Assistant] What are the signs and symptoms of Ectodermal dysplasia with natal teeth Turnpenny type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia with natal teeth Turnpenny type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nail - Acanthosis nigricans - Autosomal dominant inheritance - Cranial hyperostosis - Ectodermal dysplasia - Hypodontia - Hypoplastic pilosebaceous units - Hypoplastic sweat glands - Natal tooth - Oligodontia - Relative macrocephaly - Short stature - Slow-growing scalp hair - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - 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) Yeast Infections ?

[Assistant] Candida is the scientific name for yeast. It is a fungus that lives almost everywhere, including in your body. Usually, your immune system keeps yeast under control. If you are sick or taking antibiotics, it can multiply and cause an infection.     Yeast infections affect different parts of the body in different ways:        - Thrush is a yeast infection that causes white patches in your mouth     - Candida esophagitis is thrush that spreads to your esophagus, the tube that takes food from your mouth to your stomach. It can make it hard or painful to swallow.     - Women can get vaginal yeast infections, causing itchiness, pain and discharge    - Yeast infections of the skin cause itching and rashes     - Yeast infections in your bloodstream can be life-threatening        Antifungal medicines get rid of yeast infections in most people. If you have a weak immune system, treatment might be more difficult.


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[User] what research (or clinical trials) is being done for Colpocephaly ?

[Assistant] The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to colpocephaly and other cephalic disorders in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding ways to prevent brain abnormalities such as colpocephaly.


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[User] What are the symptoms of Focal facial dermal dysplasia ?

[Assistant] What are the signs and symptoms of Focal facial dermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal facial dermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Abnormality of the eye 90% Abnormality of the musculature 90% Aplasia/Hypoplasia of the skin 90% Atypical scarring of skin 90% Irregular hyperpigmentation 90% Abnormality of the eyebrow 50% Abnormality of the mouth 50% Depressed nasal bridge 50% Palpebral edema 50% Pointed chin 50% Autosomal dominant inheritance - Decreased subcutaneous fat - 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) Jones syndrome ?

[Assistant] Jones syndrome is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss. The onset of gingival fibromatosis usually occurs with the eruption of the permanent teeth. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, and increased spacing. Jones syndrome is inherited in an autosomal dominant manner, but the underlying genetic cause is not yet known. Only a few families with Jones syndrome have been reported.


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[User] What are the treatments for Jejunal atresia ?

[Assistant] How might jejunal atresia be treated? Jejunal atresia is typically treated with surgery. Total parenteral nutrition (TPN) is generally necessary for a period of time following surgery until normal meals are tolerated.


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[User] What causes Erythromelalgia ?

[Assistant] What causes erythromelalgia? About 15% of cases of erythromelalgia are caused by mutations in the SCN9A gene. The SCN9A gene gives instructions for making part of a sodium channel which carries sodium into cells and helps them make and transmit electrical signals. These sodium channels are found in nerve cells that transmit pain signals to the spine and brain. Mutations that cause erythromelalgia cause increased transmission of pain signals, leading to the signs and symptoms of the condition. In some of these cases, an affected individual inherits the mutation from an affected parent. In other cases, a new mutation occurs for the first time in an individual with no history of the condition in the family. In the remainder of cases, the exact underlying cause is not currently known. Evidence suggests that it results from abnormalities in the normal narrowing and widening of certain blood vessels, leading to abnormalities in blood flow to the hands and feet. There may be a variety of non-genetic causes, or mutations in other genes that have not yet been identified.


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[User] What are the genetic changes related to asphyxiating thoracic dystrophy ?

[Assistant] Mutations in at least 11 genes have been found to cause asphyxiating thoracic dystrophy. Genetic changes in the IFT80 gene were the first to be associated with this condition. Later, researchers discovered that mutations in another gene, DYNC2H1, account for up to half of all cases. Mutations in other genes each cause a small percentage of cases. In total, about 70 percent of people with asphyxiating thoracic dystrophy have mutations in one of the known genes.  The genes associated with asphyxiating thoracic dystrophy provide instructions for making proteins that are found in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. The proteins are involved in a process called intraflagellar transport (IFT), by which materials are carried to and from the tips of cilia. IFT is essential for the assembly and maintenance of these cell structures. Cilia play central roles in many different chemical signaling pathways, including a series of reactions called the Sonic Hedgehog pathway. These pathways are important for the growth and division (proliferation) and maturation (differentiation) of cells. In particular, Sonic Hedgehog appears to be essential for the proliferation and differentiation of cells that ultimately give rise to cartilage and bone.  Mutations in the genes associated with asphyxiating thoracic dystrophy impair IFT, which disrupts the normal assembly or function of cilia. As a result, cilia are missing or abnormal in many different kinds of cells. Researchers speculate that these changes alter signaling through certain signaling pathways, including the Sonic Hedgehog pathway, which may underlie the abnormalities of bone growth characteristic of asphyxiating thoracic dystrophy. Abnormal cilia in other tissues, such as the kidneys, liver, and retinas, cause the other signs and symptoms of the condition.  Asphyxiating thoracic dystrophy is part of a group of disorders known as skeletal ciliopathies or ciliary chondrodysplasias, all of which are caused by problems with cilia and involve bone abnormalities. Several of these disorders, including asphyxiating thoracic dystrophy, are sometimes classified more specifically as short rib-polydactyly syndromes (SRPSs) based on their signs and symptoms. Some researchers believe that SRPSs would be more accurately described as a spectrum with a range of features rather than as separate disorders.


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[User] What is (are) Alcohol Use and Older Adults ?

[Assistant] Alcohol, also known as ethanol, is a chemical found in beverages like beer, wine, and distilled spirits such as whiskey, vodka, and rum. Through a process called fermentation, yeast converts the sugars naturally found in grains and grapes into the alcohol that is in beer and wine. Another process, called distillation, concentrates alcohol in the drink making it stronger, producing what are known as distilled spirits.


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[User] What is (are) severe congenital neutropenia ?

[Assistant] Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The deficiency of neutrophils, called neutropenia, is apparent at birth or soon afterward. It leads to recurrent infections beginning in infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation of the gums (gingivitis) and skin. Approximately 40 percent of affected people have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and prone to fracture. In people with severe congenital neutropenia, these bone disorders can begin at any time from infancy through adulthood.  Approximately 20 percent of people with severe congenital neutropenia develop cancer of the blood-forming tissue (leukemia) or a disease of the blood and bone marrow (myelodysplastic syndrome) during adolescence.  Some people with severe congenital neutropenia have additional health problems such as seizures, developmental delay, or heart and genital abnormalities.


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[User] What is (are) Skin Cancer ?

[Assistant] SPF is a sun protection rating. The SPF of a sunscreen is a measure of the time it takes to produce a sunburn in a person wearing sunscreen compared to the time it takes to produce a sunburn in a person not wearing sunscreen. This varies from person to person, so be sure to reapply sunscreen every 2-3 hours.


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[User] What are the treatments for Diabetic Neuropathies: The Nerve Damage of Diabetes ?

[Assistant]
The first treatment step is to bring blood glucose levels within the normal range to help prevent further nerve damage. Blood glucose monitoring, meal planning, physical activity, and diabetes medicines or insulin will help control blood glucose levels. Symptoms may get worse when blood glucose is first brought under control, but over time, maintaining lower blood glucose levels helps lessen symptoms. Good blood glucose control may also help prevent or delay the onset of further problems. As scientists learn more about the underlying causes of neuropathy, new treatments may become available to help slow, prevent, or even reverse nerve damage.

As described in the following sections, additional treatment depends on the type of nerve problem and symptom.

Pain Relief

Doctors usually treat painful diabetic neuropathy with oral medications, although other types of treatments may help some people. People with severe nerve pain may benefit from a combination of medications or treatments and should consider talking with a health care provider about treatment options.

Medications used to help relieve diabetic nerve pain include

- tricyclic antidepressants, such as amitriptyline, imipramine, and desipramine (Norpramin, Pertofrane)  - other types of antidepressants, such as duloxetine (Cymbalta), venlafaxine, bupropion (Wellbutrin), paroxetine (Paxil), and citalopram (Celexa)  - anticonvulsants, such as pregabalin (Lyrica), gabapentin (Gabarone, Neurontin), carbamazepine, and lamotrigine (Lamictal)  - opioids and opioidlike drugs, such as controlled-release oxycodone, an opioid; and tramadol (Ultram), an opioid that also acts as an antidepressant

Duloxetine and pregabalin are approved by the U.S. Food and Drug Administration specifically for treating painful diabetic peripheral neuropathy.

People do not have to be depressed for an antidepressant to help relieve their nerve pain. All medications have side effects, and some are not recommended for use in older adults or those with heart disease. Because over-the-counter pain medicines such as acetaminophen and ibuprofen may not work well for treating most nerve pain and can have serious side effects, some experts recommend avoiding these medications.

Treatments that are applied to the skintypically to the feetinclude capsaicin cream and lidocaine patches (Lidoderm, Lidopain). Studies suggest that nitrate sprays or patches for the feet may relieve pain. Studies of alpha-lipoic acid, an antioxidant, and evening primrose oil suggest they may help relieve symptoms and improve nerve function in some patients.

A device called a bed cradle can keep sheets and blankets from touching sensitive feet and legs. Acupuncture, biofeedback, or physical therapy may help relieve pain in some people. Treatments that involve electrical nerve stimulation, magnetic therapy, and laser or light therapy may be helpful but need further study. Researchers are also studying several new therapies in clinical trials.

Gastrointestinal Problems

To relieve mild symptoms of gastroparesisindigestion, belching, nausea, or vomitingdoctors suggest eating small, frequent meals; avoiding fats; and eating less fiber. When symptoms are severe, doctors may prescribe erythromycin to speed digestion, metoclopramide to speed digestion and help relieve nausea, or other medications to help regulate digestion or reduce stomach acid secretion.

To relieve diarrhea or other bowel problems, doctors may prescribe an antibiotic such as tetracycline, or other medications as appropriate.

Dizziness and Weakness

Sitting or standing slowly may help prevent the light-headedness, dizziness, or fainting associated with blood pressure and circulation problems. Raising the head of the bed or wearing elastic stockings may also help. Some people benefit from increased salt in the diet and treatment with salt-retaining hormones. Others benefit from high blood pressure medications. Physical therapy can help when muscle weakness or loss of coordination is a problem.

Urinary and Sexual Problems

To clear up a urinary tract infection, the doctor will probably prescribe an antibiotic. Drinking plenty of fluids will help prevent another infection. People who have incontinence should try to urinate at regular intervalsevery 3 hours, for examplebecause they may not be able to tell when the bladder is full.

To treat erectile dysfunction in men, the doctor will first do tests to rule out a hormonal cause. Several methods are available to treat erectile dysfunction caused by neuropathy. Medicines are available to help men have and maintain erections by increasing blood flow to the penis. Some are oral medications and others are injected into the penis or inserted into the urethra at the tip of the penis. Mechanical vacuum devices can also increase blood flow to the penis. Another option is to surgically implant an inflatable or semirigid device in the penis.

Vaginal lubricants may be useful for women when neuropathy causes vaginal dryness. To treat problems with arousal and orgasm, the doctor may refer women to a gynecologist.

Foot Care

People with neuropathy need to take special care of their feet. The nerves to the feet are the longest in the body and are the ones most often affected by neuropathy. Loss of sensation in the feet means that sores or injuries may not be noticed and may become ulcerated or infected. Circulation problems also increase the risk of foot ulcers. Smoking increases the risk of foot problems and amputation. A health care provider may be able to provide help with quitting smoking.

More than 60 percent of all nontraumatic lower-limb amputations in the United States occur in people with diabetes. Nontraumatic amputations are those not caused by trauma such as severe injuries from an accident. In 2004, about 71,000 nontraumatic amputations were performed in people with diabetes. Comprehensive foot care programs can reduce amputation rates by 45 to 85 percent.

Careful foot care involves

- cleaning the feet daily using warmnot hotwater and a mild soap. Soaking the feet should be avoided. A soft towel can be used to dry the feet and between the toes.  - inspecting the feet and toes every day for cuts, blisters, redness, swelling, calluses, or other problems. Using a mirrorhandheld or placed on the floormay be helpful in checking the bottoms of the feet, or another person can help check the feet. A health care provider should be notified of any problems.  - using lotion to moisturize the feet. Getting lotion between the toes should be avoided.  - filing corns and calluses gently with a pumice stone after a bath or shower.  - cutting toenails to the shape of the toes and filing the edges with an emery board each week or when needed.  - always wearing shoes or slippers to protect feet from injuries. Wearing thick, soft, seamless socks can prevent skin irritation.  - wearing shoes that fit well and allow the toes to move. New shoes can be broken in gradually by first wearing them for only an hour at a time.  - looking shoes over carefully before putting them on and feeling the insides to make sure the shoes are free of tears, sharp edges, or objects that might injure the feet.

People who need help taking care of their feet should consider making an appointment to see a foot doctor, also called a podiatrist.


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[User] What are the genetic changes related to Hirschsprung disease ?

[Assistant] Isolated Hirschsprung disease can result from mutations in one of several genes, including the RET, EDNRB, and EDN3 genes. However, the genetics of this condition appear complex and are not completely understood. While a mutation in a single gene sometimes causes the condition, mutations in multiple genes may be required in some cases. The genetic cause of the condition is unknown in approximately half of affected individuals.  Mutations in the RET gene are the most common known genetic cause of Hirschsprung disease. The RET gene provides instructions for producing a protein that is involved in signaling within cells. This protein appears to be essential for the normal development of several kinds of nerve cells, including nerves in the intestine. Mutations in the RET gene that cause Hirschsprung disease result in a nonfunctional version of the RET protein that cannot transmit signals within cells. Without RET protein signaling, enteric nerves do not develop properly. Absence of these nerves leads to the intestinal problems characteristic of Hirschsprung disease.  The EDNRB gene provides instructions for making a protein called endothelin receptor type B. When this protein interacts with other proteins called endothelins, it transmits information from outside the cell to inside the cell, signaling for many important cellular processes. The EDN3 gene provides instructions for a protein called endothelin 3, one of the endothelins that interacts with endothelin receptor type B. Together, endothelin 3 and endothelin receptor type B play an important role in the normal formation of enteric nerves. Changes in either the EDNRB gene or the EDN3 gene disrupt the normal functioning of the endothelin receptor type B or the endothelin 3 protein, preventing them from transmitting signals important for the development of enteric nerves. As a result, these nerves do not form normally during embryonic development. A lack of enteric nerves prevents stool from being moved through the intestine, leading to severe constipation and intestinal blockage.


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[User] What causes Diffuse gastric cancer ?

[Assistant] Can diffuse gastric cancer be caused by excessive drinking? Most of the time the exact cause of gastric cancer can not be determined; however there are many different factors that may put someone at an increased risk for developing stomach cancer. While it isn't clear if alcohol alone can increase this risk, it is thought that regular drinking may increase the risk in smokers. You can visit the following information pages develped by the National Cancer Insitute and Cancer Research UK to learn more about these risks. http://www.cancer.gov/cancertopics/wyntk/stomach/page4 http://www.cancerhelp.org.uk/help/default.asp?page=3903


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[User] How to diagnose Harlequin ichthyosis ?

[Assistant] Can harlequin ichthyosis be diagnosed before birth using amniocentesis or chorionic villus sampling? Yes, harlequin ichthyosis can be diagnosed before birth using either amniocentesis or chorionic villus sampling. Both of these procedures are used to obtain a sample of fetal DNA, which can be tested for mutations in the ABCA12 gene. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a specific genetic test should contact a health care provider or a genetics professional.


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[User] What is (are) Sclerosing mesenteritis ?

[Assistant] Sclerosing mesenteritis is one of many terms used to describe a spectrum of chronic inflammatory diseases affecting the small bowel mesentery, the membrane that anchors the small intestine to the back of the abdominal wall.  The cause of this condition is unknown. The most common symptom is abdominal pain or a palpable abdominal mass. Click on the highlighted text to view an illustration of the small intestine.


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

[Assistant] This condition affects an estimated 1 in 8,500 females.


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[User] What are the symptoms of Kidney Disease ?

[Assistant] Kidney Disease Kidney disease is often called a "silent" disease, because most people have no symptoms with early kidney disease. In fact, you might feel just fine until your kidneys have almost stopped working. Do NOT wait for symptoms! If you are at risk for kidney disease, talk to your health care provider about getting tested. (Watch the video to learn more about the symptoms of kidney disease. To enlarge the videos on this page, click the brackets in the lower right-hand corner of the video screen. To reduce the videos, press the Escape (Esc) button on your keyboard.) Symptoms of Kidney Failure Kidney failure means that damaged kidneys are filtering less than 15% of the amount of blood filtered by healthy kidneys. If kidney disease progresses to kidney failure, a number of symptoms may occur. Some people experience fatigue, some lose their appetite, and some have leg cramps. These problems are caused by waste products that build up in the blood, a condition known as uremia. Healthy kidneys remove waste products from the blood. When the kidneys stop working, uremia occurs. The kidneys also make hormones and balance the minerals in the blood. When the kidneys stop working, most people develop conditions that affect the blood, bones, nerves, and skin. These problems may include itching, sleep problems, restless legs, weak bones, joint problems, and depression. How Kidney Disease Is Diagnosed  Blood and urine tests are the only way to check for kidney damage or measure kidney function. It is important for you to get checked for kidney disease if you have the key risk factors, which are - diabetes  - high blood pressure   - heart disease  - a family history of kidney failure.  diabetes high blood pressure heart disease a family history of kidney failure. If you are at risk, ask about your kidneys at your next medical appointment. The sooner you know you have kidney disease, the sooner you can get treatment to help delay or prevent kidney failure. If you have diabetes, high blood pressure, heart disease, or a family history of kidney failure, you should get a blood and urine test to check your kidneys. Talk to your provider about how often you should be tested. (Watch the video to learn more about tests for kidney disease.) Blood Test The blood test checks your GFR. GFR stands for glomerular (glow-MAIR-you-lure) filtration rate. GFR is a measure of how much blood your kidneys filter each minute. This shows how well your kidneys are working. GFR is reported as a number. -  A GFR of 60 or higher is in the normal range.   - A GFR below 60 may mean you have kidney disease. However, because GFR decreases as people age, other information may be needed to determine if you actually have kidney disease.  - A GFR of 15 or lower may mean kidney failure.  A GFR of 60 or higher is in the normal range. A GFR below 60 may mean you have kidney disease. However, because GFR decreases as people age, other information may be needed to determine if you actually have kidney disease. A GFR of 15 or lower may mean kidney failure. You can't raise your GFR, but you can try to keep it from going lower. Ask your healthcare provider what you can do to keep your kidneys healthy.  Learn more about the GFR test. Urine Test The urine test looks for albumin (al-BYOO-min), a type of protein, in your urine. A healthy kidney does not let albumin pass into the urine. A damaged kidney lets some albumin pass into the urine. This test has several different names. You could be told that you are being screened for "proteinuria" or "albuminuria" or "microalbuminuria." Or you could be told that your "urine albumin-to-creatinine ratio" (UACR) is being measured. If you have albumin or protein in your urine, it could mean you have kidney disease. -  A urine albumin result below 30 is normal.  - A urine albumin result above 30 is not normal and may mean kidney disease. A urine albumin result below 30 is normal. A urine albumin result above 30 is not normal and may mean kidney disease. Learn more about the urine albumin test. Your healthcare provider might do additional tests to be sure.


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[User] What causes Laron syndrome ?

[Assistant] What causes Laron syndrome? Laron syndrome is caused by changes (mutations) in the GHR gene. This gene encodes growth hormone receptor, which is a protein found on the outer membrane of cells throughout the body. Growth hormone receptor is designed to recognize and bind growth hormone, which triggers cellular growth and division. When growth hormone is bound to the growth hormone receptors on liver cells, specifically, insulin-like growth factor I (another important growth-promoting hormone) is produced. Mutations in GHR impair the function of growth hormone receptors which interferes with their ability to bind growth hormone. This disrupts normal growth and development of cells and prevents the production of insulin-like growth factor I which causes the many signs and symptoms of Laron syndrome.


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[User] what research (or clinical trials) is being done for Brain and Spinal Tumors ?

[Assistant] Scientists continue to investigate ways to better understand, diagnose, and treat CNS tumors. Experimental treatment options may include new drugs, gene therapy, surgery , radiation, biologic modulators that enhance the body's overall immune system to recognize and fight cancer cells, and a combination of therapies. Of particular interest to scientists is the development of tailored therapeutics--involving a combination of targeted agents that use different molecules to reduce tumor gene activity and suppress uncontrolled growth by killing or reducing the production of tumor cells--to treat tumors based on their genetic makeup. Researchers continue to search for additional clinical biomarkers (molecules or other substances in the blood or tissue that can be used to diagnose or monitor a particular disorder) of CNS tumors. Other researchers are testing different drugs and molecules to see if they can modulate the normal activity of the blood-brain barrier and better target tumor cells and associated blood vessels. Also under investigation are ways to improve drug delivery to the tumor and to prevent the side-effects of cancer treatments.


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[User] What are the symptoms of Craniometaphyseal dysplasia, autosomal recessive type ?

[Assistant] What are the signs and symptoms of Craniometaphyseal dysplasia, autosomal recessive type? Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hypertelorism), and a prominent jaw. Excessive new bone formation (hyperostosis) in the jaw can delay teething (dentition) or result in absent teeth. Infants with this condition may have breathing or feeding problems caused by narrow nasal passages. In severe cases, abnormal bone growth can compress the nerves that emerge from the brain and extend to various areas of the head and neck (cranial nerves). Compression of the cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), blindness, or deafness. The x-rays of individuals with craniometaphyseal dysplasia show unusually shaped long bones, particularly the large bones in the legs. The ends of these bones (metaphyses) are wider and appear less dense in people with this condition. The symptoms seen in autosomal recessive craniometaphyseal dysplasia are typically more severe than those seen in the autosomal dominant form. The Human Phenotype Ontology provides the following list of signs and symptoms for Craniometaphyseal dysplasia, autosomal recessive type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metaphyses 90% Craniofacial hyperostosis 90% Depressed nasal bridge 90% Hypertelorism 90% Increased bone mineral density 90% Wide nasal bridge 90% Skeletal dysplasia 50% Telecanthus 50% Conductive hearing impairment 7.5% Facial palsy 7.5% Sensorineural hearing impairment 7.5% Visual impairment 7.5% Abnormality of the nasopharynx - Abnormality of the thorax - Autosomal recessive inheritance - Bony paranasal bossing - Broad alveolar ridges - Club-shaped distal femur - Coarse facial features - Delayed eruption of permanent teeth - Facial hyperostosis - Flared metaphysis - Macrocephaly - Mandibular prognathia - Metaphyseal dysplasia - Mixed hearing impairment - Nasal obstruction - Optic atrophy - Patchy sclerosis of finger phalanx - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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

[Assistant] Mutations in the CP gene cause aceruloplasminemia. The CP gene provides instructions for making a protein called ceruloplasmin, which is involved in iron transport and processing. Ceruloplasmin helps move iron from the organs and tissues of the body and prepares it for incorporation into a molecule called transferrin, which transports it to red blood cells to help carry oxygen.  CP gene mutations result in the production of ceruloplasmin protein that is unstable or nonfunctional, or they prevent the protein from being released (secreted) by the cells in which it is made. When ceruloplasmin is unavailable, transport of iron out of the body's tissues is impaired. The resulting iron accumulation damages cells in those tissues, leading to neurological dysfunction, and the other health problems seen in aceruloplasminemia.


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[User] What is (are) Chronic Pain ?

[Assistant] Pain is a feeling set off in the nervous system. Acute pain lets you know that you may be injured or have a problem you need to take care of. Chronic pain is different. The pain signals go on for weeks, months, or even years. The original cause may have been an injury or infection. There may be an ongoing cause of pain, such as arthritis or cancer. But in some cases there is no clear cause.    Problems that cause chronic pain include       - Headache    - Low back strain    - Cancer    - Arthritis    - Pain from nerve damage       Chronic pain usually cannot be cured. But treatments can help. They include medicines, acupuncture, electrical stimulation and surgery. Other treatments include psychotherapy, relaxation and meditation therapy, biofeedback, and behavior modification.     NIH: National Institute of Neurological Disorders and Stroke


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[User] Is chorea-acanthocytosis 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 Down syndrome ?

[Assistant] Most cases of Down syndrome result from trisomy 21, which means each cell in the body has three copies of chromosome 21 instead of the usual two copies.  Less commonly, Down syndrome occurs when part of chromosome 21 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) in a parent or very early in fetal development. Affected people have two normal copies of chromosome 21 plus extra material from chromosome 21 attached to another chromosome, resulting in three copies of genetic material from chromosome 21. Affected individuals with this genetic change are said to have translocation Down syndrome.  A very small percentage of people with Down syndrome have an extra copy of chromosome 21 in only some of the body's cells. In these people, the condition is called mosaic Down syndrome.  Researchers believe that having extra copies of genes on chromosome 21 disrupts the course of normal development, causing the characteristic features of Down syndrome and the increased risk of health problems associated with this condition.


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[User] How to diagnose Galloway-Mowat syndrome ?

[Assistant] Is genetic testing available for Galloway-Mowat syndrome? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer clinical genetic testing for Galloway-Mowat syndrome. While it is known to be caused by mutations in the WDR73 gene, it has been suggested that other, unidentified genes may also be responsible. In some cases, carrier testing for unaffected relatives may only be available if the specific mutation in the affected family member is known. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.


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[User] How many people are affected by carbamoyl phosphate synthetase I deficiency ?

[Assistant] Carbamoyl phosphate synthetase I deficiency is a rare disorder; its overall incidence is unknown. Researchers in Japan have estimated that it occurs in 1 in 800,000 newborns in that country.


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[User] What to do for Dumping Syndrome ?

[Assistant]
The first step to minimizing symptoms of dumping syndrome involves changes in eating, diet, and nutrition, and may include

- eating five or six small meals a day instead of three larger meals  - delaying liquid intake until at least 30 minutes after a meal  - increasing intake of protein, fiber, and complex carbohydratesfound in starchy foods such as oatmeal and rice  - avoiding simple sugars such as table sugar, which can be found in candy, syrup, sodas, and juice beverages  - increasing the thickness of food by adding pectin or guar gumplant extracts used as thickening agents

Some people find that lying down for 30 minutes after meals also helps reduce symptoms.

Medication

A health care provider may prescribe octreotide acetate (Sandostatin) to treat dumping syndrome symptoms. The medication works by slowing gastric emptying and inhibiting the release of insulin and other GI hormones. Octreotide comes in short- and long-acting formulas. The short-acting formula is injected subcutaneouslyunder the skinor intravenouslyinto a veintwo to four times a day. A health care provider may perform the injections or may train the patient or patient's friend or relative to perform the injections. A health care provider injects the long-acting formula into the buttocks muscles once every 4 weeks. Complications of octreotide treatment include increased or decreased blood glucose levels, pain at the injection site, gallstones, and fatty, foul-smelling stools.

Surgery

A person may need surgery if dumping syndrome is caused by previous gastric surgery or if the condition is not responsive to other treatments. For most people, the type of surgery depends on the type of gastric surgery performed previously. However, surgery to correct dumping syndrome often has unsuccessful results.


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[User] What are the treatments for Behet disease ?

[Assistant] These resources address the diagnosis or management of Behet disease:  - American Behcet's Disease Association: Diagnosis  - American Behcet's Disease Association: Treatments  - Genetic Testing Registry: Behcet's syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the symptoms of Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa ?

[Assistant] What are the signs and symptoms of Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa. 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) Amelogenesis imperfecta - Autosomal recessive inheritance - Biconcave vertebral bodies - Broad ribs - Photophobia - Prominent deltoid tuberosities - Reduced visual acuity - Rhizomelia - Rod-cone dystrophy - Scoliosis - Short clavicles - Short femoral neck - Short humerus - Short neck - Short ribs - Strabismus - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the symptoms of Thalassemia ?

[Assistant] What are the signs and symptoms of Thalassemia? The signs and symptoms vary depending on the severity of the thalassemia. For example, people affected by milder forms of thalassemia can develop mild anemia or may have no signs or symptoms of the condition at all. Intermediate forms of thalassemia can cause mild to moderate anemia and may be associated with other health problems such as slowed growth, delayed puberty, bone problems and/or an enlarged spleen. In addition to the signs and symptoms seen in intermediate thalassemia, people with severe forms of thalassemia may also experience severe anemia, poor appetite, paleness, dark urine, yellow discoloration of skin (jaundice), and enlarged liver or heart. For more information on the signs and symptoms by type of thalassemia, please click here. The Human Phenotype Ontology provides the following list of signs and symptoms for Thalassemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the heme biosynthetic pathway 90% Abnormality of immune system physiology 7.5% Biliary tract abnormality 7.5% Cognitive impairment 7.5% Hemolytic anemia 7.5% Hydrops fetalis 7.5% Hypersplenism 7.5% Myelodysplasia 7.5% Splenomegaly 7.5% Hypochromic microcytic anemia - Reduced alpha/beta synthesis ratio - 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) Metabolic Syndrome ?

[Assistant] Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions are        -  High blood pressure    -  High blood glucose, or blood sugar, levels    -  High levels of triglycerides, a type of fat, in your blood     -  Low levels of HDL, the good cholesterol, in your blood    -  Too much fat around your waist       Not all doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is a hormone your body produces to help you turn sugar from food into energy for your body. If you are insulin resistant, too much sugar builds up in your blood, setting the stage for disease.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases


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[User] What are the treatments for Chanarin-Dorfman syndrome ?

[Assistant] These resources address the diagnosis or management of Chanarin-Dorfman syndrome:  - Genetic Testing Registry: Triglyceride storage disease with ichthyosis  - MedlinePlus Encyclopedia: Ichthyosis vulgaris   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 Huntington disease ?

[Assistant] These resources address the diagnosis or management of Huntington disease:  - Gene Review: Gene Review: Huntington Disease  - Genetic Testing Registry: Huntington's chorea  - Huntington's Disease Society of America: HD Care  - MedlinePlus Encyclopedia: Huntington Disease  - University of Washington Medical Center: Testing for Huntington Disease: Making an Informed Choice   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) Shoulder Injuries and Disorders ?

[Assistant] Your shoulder joint is composed of three bones: the clavicle (collarbone), the scapula (shoulder blade), and the humerus (upper arm bone). Your shoulders are the most movable joints in your body. They can also be unstable because the ball of the upper arm is larger than the shoulder socket that holds it. To remain in a stable or normal position, the shoulder must be anchored by muscles, tendons and ligaments. Because the shoulder can be unstable, it is the site of many common problems. They include sprains, strains, dislocations, separations, tendinitis, bursitis, torn rotator cuffs, frozen shoulder, fractures and arthritis.     Usually shoulder problems are treated with RICE. This stands for Rest, Ice, Compression and Elevation. Other treatments include exercise, medicines to reduce pain and swelling, and surgery if other treatments don't work.    NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases


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[User] What is (are) Syringomyelia ?

[Assistant] Syringomyelia is a rare disorder that causes a cyst to form in your spinal cord. This cyst, called a syrinx, gets bigger and longer over time, destroying part of the spinal cord. Damage to the spinal cord from the syrinx can cause symptoms such as        - Pain and weakness in the back, shoulders, arms or legs    - Headaches    - Inability to feel hot or cold       Symptoms vary according to the size and location of the syrinx. They often begin in early adulthood.     Syringomyelia usually results from a skull abnormality called a Chiari I malformation. A tumor, meningitis or physical trauma can also cause it. Surgery is the main treatment. Some people also need to have the syrinx drained. Medicines can help ease pain. In some cases, there are no symptoms, so you may not need treatment.


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[User] What are the treatments for juvenile myoclonic epilepsy ?

[Assistant] These resources address the diagnosis or management of juvenile myoclonic epilepsy:  - Genetic Testing Registry: Epilepsy with grand mal seizures on awakening  - Genetic Testing Registry: Epilepsy, idiopathic generalized 10  - Genetic Testing Registry: Epilepsy, idiopathic generalized 9  - Genetic Testing Registry: Epilepsy, juvenile myoclonic 5  - Genetic Testing Registry: Epilepsy, juvenile myoclonic 9  - Genetic Testing Registry: Juvenile myoclonic epilepsy  - Merck Manual Consumer Version: Seizure Disorders   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 Spinocerebellar degeneration and corneal dystrophy ?

[Assistant] What are the signs and symptoms of Spinocerebellar degeneration and corneal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar degeneration and corneal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% EEG abnormality 90% Hemiplegia/hemiparesis 90% Incoordination 90% Opacification of the corneal stroma 90% Visual impairment 90% Abnormality of movement 50% Hyperlordosis 50% Hypertonia 50% Low-set, posteriorly rotated ears 50% Ptosis 50% Scoliosis 50% Triangular face 50% Abnormality of metabolism/homeostasis - Ataxia - Autosomal recessive inheritance - Corneal dystrophy - Intellectual disability - Severe visual impairment - Spinocerebellar tract degeneration - 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 Adult Acute Lymphoblastic Leukemia ?

[Assistant] Tests that examine the blood and bone marrow are used to detect (find) and diagnose adult ALL. The following tests and procedures may be used:          -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as infection or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken.    -   Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following:                -  The number of red blood cells and platelets.      - The number and type of white blood cells.      - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells.      - The portion of the blood sample made up of red blood cells.              -   Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease.    -   Peripheral blood smear : A procedure in which a sample of blood is checked for blast cells, the number and kinds of white blood cells, the number of platelets, and changes in the shape of blood cells.    -   Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for abnormal cells. The following tests may be done on the samples of blood or bone marrow tissue that are removed:               -  Cytogenetic analysis:  A laboratory test in which the cells in a sample of blood or bone marrow are looked at under a microscope to find out if there are certain changes in the chromosomes of lymphocytes. For example, in Philadelphia chromosome positive ALL, part of one chromosome switches places with part of another chromosome. This is called the Philadelphia chromosome.       -  Immunophenotyping : A process used to identify cells, based on the types of antigens or markers on the surface of the cell. This process is used to diagnose the subtype of ALL by comparing the cancer cells to normal cells of the immune system. For example, a cytochemistry study may test the cells in a sample of tissue using chemicals (dyes) to look for certain changes in the sample. A chemical may cause a color change in one type of leukemia cell but not in another type of leukemia cell.


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[User] What causes Immune Thrombocytopenia ?

[Assistant]
In most cases, an autoimmune response is thought to cause immune thrombocytopenia (ITP).

Normally, your immune system helps your body fight off infections and diseases. In ITP, however, your immune system attacks and destroys your body's platelets by mistake. Why this happens isn't known.

In some people, ITP may be linked to viral or bacterial infections, such as HIV, hepatitis C, or H. pylori.

Children who have acute (short-term) ITP often have had recent viral infections. These infections may "trigger" or set off the immune reaction that leads to ITP.