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

[User] How to diagnose Osteoporosis ?

[Assistant] Diagnosing osteoporosis involves several steps, starting with a physical exam and a careful medical history, blood and urine tests, and possibly a bone mineral density assessment. When recording information about your medical history, your doctor will ask questions to find out whether you have risk factors for osteoporosis and fractures. The doctor may ask about -  any fractures you have had   -  your lifestyle (including diet, exercise habits, and whether you smoke)  - current or past health problems   - medications that could contribute to low bone mass and increased fracture risk  - your family history of osteoporosis and other diseases   - for women, your menstrual history.  any fractures you have had your lifestyle (including diet, exercise habits, and whether you smoke) current or past health problems medications that could contribute to low bone mass and increased fracture risk your family history of osteoporosis and other diseases for women, your menstrual history.


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[User] What is (are) Spastic paraplegia 11 ?

[Assistant] Spastic paraplegia 11 is a form of hereditary spastic paraplegia. People with spastic paraplegia 11 experience progressive muscle stiffness and eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms. The tissue connecting the left and right halves of the brain (corpus callosum) is abnormally thin in individuals with this condition. Spastic paraplegia 11 is caused by mutations in the SPG11 gene and is passed through families in an autosomal recessive fashion.


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[User] What is (are) Patulous Eustachian Tube ?

[Assistant] Patulous eustachian tube is a benign condition in which the eustachian tube stays open most of the time. The eustachian tube is the tube that runs between the middle ear and throat and regulates the ear pressure around the ear drum. Under normal circumstances, it remains closed most of the time, opening only on occasion to equalize air pressure between the middle ear and the exterior environment. Major symptoms include distorted autophony (hearing one's own voice or breathing), echoing which may interfere with speech production, wave-like sounds, and a sensation of fullness in the ear. In severe cases, vertigo and hearing loss may occur. Over time, individuals with patulous eustachian tube may develop serious and even extreme responses to the abnormal sounds and other findings. In most cases, the cause of patulous eustachian tube is unknown. Weight loss and pregnancy may be predisposing factors. Neurologic disorders that cause muscle atrophy such as stroke, multiple sclerosis, and motor neuron disease have been implicated in some cases of patulous eustachian tube. Other cases may be associated with medications such as oral contraceptives or diuretics. Other predisposing factors include fatigue, stress, anxiety, exercise, and temporomandibular joint syndrome.


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[User] What are the treatments for Problems with Smell ?

[Assistant] Depending on the cause of your smell disorder, your doctor may be able to treat your problem or suggest ways to cope with it. If a certain medication is the cause of the disorder, ask your doctor if you could substitute other medications or reduce the dose. Your doctor will work with you to get the medicine you need while trying to reduce unwanted side effects. Some patients with respiratory infections or allergies regain their sense of smell when the illness or condition is over. Often, correcting a general medical problem also can restore the sense of smell. For patients with nasal obstructions, such as polyps, or other inflammatory conditions of the nose or sinuses, medical treatments or surgery can restore the sense of smell. Occasionally, the sense of smell returns to normal on its own, without any treatment. Your doctor may suggest oral steroid medications such as prednisone, which is usually used for a short period of time, or topical steroid sprays, which can be used for longer periods of time. Antibiotics are also used to treat nasal infections. The effectiveness of both steroids and antibiotics depends greatly on the severity and duration of the nasal swelling or infection. Often relief is temporary.


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[User] What is (are) Transitional Cell Cancer of the Renal Pelvis and Ureter ?

[Assistant]
Key Points
                    - Transitional cell cancer of the renal pelvis and ureter is a disease in which malignant (cancer) cells form in the renal pelvis and ureter.    -  Misuse of certain pain medicines can affect the risk of transitional cell cancer of the renal pelvis and ureter.     - Signs and symptoms of transitional cell cancer of the renal pelvis and ureter include blood in the urine and back pain.    - Tests that examine the abdomen and kidneys are used to detect (find) and diagnose transitional cell cancer of the renal pelvis and ureter.    - Certain factors affect prognosis (chance of recovery) and treatment options.

                    Transitional cell cancer of the renal pelvis and ureter is a disease in which malignant (cancer) cells form in the renal pelvis and ureter.
                    The renal pelvis is the top part of the ureter. The ureter is a long tube that connects the kidney to the bladder. There are two kidneys, one on each side of the backbone, above the waist. The kidneys of an adult are about 5 inches long and 3 inches wide and are shaped like a kidney bean. Tiny tubules in the kidneys filter and clean the blood. They take out waste products and make urine. The urine collects in the middle of each kidney in the renal pelvis. Urine passes from the renal pelvis through the ureter into the bladder. The bladder holds the urine until it passes through the urethra and leaves the body.      The renal pelvis and ureters are lined with transitional cells. These cells can change shape and stretch without breaking apart. Transitional cell cancer starts in these cells. Transitional cell cancer can form in the renal pelvis or the ureter or both.    Renal cell cancer is a more common type of kidney cancer. See the PDQ summary about Renal Cell Cancer Treatment for more information.


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[User] What are the symptoms of Single upper central incisor ?

[Assistant] What are the signs and symptoms of Single upper central incisor? The Human Phenotype Ontology provides the following list of signs and symptoms for Single upper central incisor. 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) Choanal atresia 90% Midnasal stenosis 90% Short stature 90% Cognitive impairment 50% Hypotelorism 50% Intrauterine growth retardation 50% Microcephaly 50% Narrow nasal bridge 50% Premature birth 50% Short philtrum 50% Tented upper lip vermilion 50% Holoprosencephaly 33% Abnormality of the skin 7.5% Anosmia 7.5% Anterior hypopituitarism 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Asthma 7.5% Cleft palate 7.5% Coloboma 7.5% Cyclopia 7.5% Duodenal stenosis 7.5% Hypoplasia of penis 7.5% Hypothyroidism 7.5% Iris coloboma 7.5% Maternal diabetes 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Seizures 7.5% Short nose 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Vertebral segmentation defect 7.5% Anophthalmia 5% Microphthalmia 5% Prominent median palatal raphe 14/14 Growth hormone deficiency 5/7 Midnasal stenosis 9/14 Choanal atresia 8/14 Hypotelorism 8/14 Short stature 7/14 Microcephaly 6/14 Specific learning disability 5/14 Intellectual disability, mild 3/14 Abnormality of chromosome segregation 2/14 Abnormality of the nasopharynx 1/14 Cleft upper lip 1/14 Autosomal dominant inheritance - Torus palatinus - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for Diagnosis of Diabetes and Prediabetes ?

[Assistant]
People can manage their diabetes with meal planning, physical activity, and if needed, medications. More information about taking care of type 1 or type 2 diabetes is provided in the NIDDK health topics:

- What I need to know about Diabetes Medicines  - What I need to know about Eating and Diabetes  - Your Guide to Diabetes: Type 1 and Type 2

These NDIC publications are available at http://www.niddk.nih.gov/health-information/health-topics/Diabetes/Pages/default.aspx or by calling 18008608747.


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[User] How to diagnose Bartter syndrome ?

[Assistant] How is Bartter syndrome diagnosed? Bartter syndrome is usually diagnosed after a combination of tests are performed on an individual with the signs and symptoms of the condition. Blood test results in an affected individual typically show low blood potassium levels (with normal blood pressure); low blood chloride levels; and an acid/base balance that is skewed towards the base (i.e. the blood is more alkaline than usual). High levels of the hormones renin and aldosterone in the blood would also support the diagnosis. Urine test results that would support the diagnosis include high levels of potassium and chloride, suggesting that the kidneys have impaired ability to control the concentrations of these electrolytes. A positive genetic test result would confirm the diagnosis. Is genetic testing available for Bartter syndrome? Yes, genetic testing for Bartter syndrome is available. GeneTests lists the names of laboratories that are performing clinical genetic testing for Bartter syndrome. To view a list of the clinical laboratories performing testing for each type of Bartter syndrome, click on the appropriate link below: Antenatal Bartter syndrome type I Antenatal Bartter syndrome type II Bartter syndrome type III (Classical Bartter syndrome) Bartter syndrome type IVA (Infantile Bartter Syndrome with Sensorineural Deafness) Bartter syndrome type IVB Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, individuals interested in learning more will need to work with a health care provider or a genetics professional.


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

[User] What are the symptoms of Florid papillomatosis of the nipple ?

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


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

[User] What are the symptoms of Precocious puberty ?

[Assistant] What are the signs and symptoms of Precocious puberty? The Human Phenotype Ontology provides the following list of signs and symptoms for Precocious puberty. 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) Hypothyroidism 7.5% Autosomal dominant inheritance - Elevated follicle stimulating hormone - Elevated luteinizing hormone - Isosexual precocious puberty - Short stature - 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.


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

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

[Assistant] What are the signs and symptoms of Charcot-Marie-Tooth disease type 2G? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2G. 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) Onion bulb formation 7.5% Areflexia - Autosomal recessive inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Flexion contracture - Neonatal onset - Pes cavus - Spinal deformities - Split hand - Vocal cord paresis - 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 Familial hypertrophic cardiomyopathy ?

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


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[User] What are the treatments for Prostate Cancer ?

[Assistant] Surgery, radiation therapy, and hormonal therapy all have the potential to disrupt sexual desire or performance for a short while or permanently. Discuss your concerns with your health care provider. Several options are available to help you manage sexual problems related to prostate cancer treatment.


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

[User] What are the symptoms of Severe intellectual disability-progressive spastic diplegia syndrome ?

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


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[User] How many people are affected by Niemann-Pick disease ?

[Assistant] Niemann-Pick disease types A and B is estimated to affect 1 in 250,000 individuals. Niemann-Pick disease type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately 1 in 40,000 individuals.  Combined, Niemann-Pick disease types C1 and C2 are estimated to affect 1 in 150,000 individuals; however, type C1 is by far the more common type, accounting for 95 percent of cases. The disease occurs more frequently in people of French-Acadian descent in Nova Scotia. In Nova Scotia, a population of affected French-Acadians were previously designated as having Niemann-Pick disease type D, however, it was shown that these individuals have mutations in the gene associated with Niemann-Pick disease type C1.


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[User] What are the genetic changes related to bladder cancer ?

[Assistant] As with most cancers, the exact causes of bladder cancer are not known; however, many risk factors are associated with this disease. Many of the major risk factors are environmental, such as smoking and exposure to certain industrial chemicals. Studies suggest that chronic bladder inflammation, a parasitic infection called schistosomiasis, and some medications used to treat cancer are other environmental risk factors associated with bladder cancer.  Genetic factors are also likely to play an important role in determining bladder cancer risk. Researchers have studied the effects of mutations in several genes, including FGFR3, RB1, HRAS, TP53, and TSC1, on the formation and growth of bladder tumors. Each of these genes plays a critical role in regulating cell division by preventing cells from dividing too rapidly or in an uncontrolled way. Alterations in these genes may help explain why some bladder cancers grow and spread more rapidly than others.  Deletions of part or all of chromosome 9 are common events in bladder tumors. Researchers believe that several genes that control cell growth and division are probably located on chromosome 9. They are working to determine whether a loss of these genes plays a role in the development and progression of bladder cancer.  Most of the genetic changes associated with bladder cancer develop in bladder tissue during a person's lifetime, rather than being inherited from a parent. Some people, however, appear to inherit a reduced ability to break down certain chemicals, which makes them more sensitive to the cancer-causing effects of tobacco smoke and industrial chemicals.


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[User] Do you have information about Occupational Health

[Assistant] Summary : Occupational health problems occur at work or because of the kind of work you do. These problems can include       - Cuts, broken bones, sprains, and strains    - Loss of limbs    - Repetitive motion disorders    - Hearing problems caused by exposure to noise    - Vision problems    - Illness caused by breathing, touching, or swallowing unsafe substances    - Illness caused by exposure to radiation    - Exposure to germs in health care settings       Good job safety and prevention practices can reduce your risk of these problems. Try to stay fit, reduce stress, set up your work area properly, and use the right equipment and gear.


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[User] What is (are) Skin Infections ?

[Assistant] Your skin helps protect you from germs, but sometimes it can get infected by them. Some common types of skin infections are       - Bacterial: Cellulitis and impetigo. Staphylococcal infections can also affect the skin.    - Viral: Shingles, warts, and herpes simplex    - Fungal: Athlete's foot and yeast infections    - Parasitic: Body lice, head lice, and scabies       Treatment of skin infections depends on the cause.


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[User] Is MECP2 duplication syndrome inherited ?

[Assistant] Is MECP2 duplication syndrome inherited? MECP2 duplication syndrome is inherited in an X-linked manner. A condition is considered X-linked if the genetic change that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). In males (who have only one X chromosome), a duplication of the MECP2 gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a duplication of one of the two copies of the gene typically does not cause the disorder. Early in the development of females, one of the two X chromosomes is randomly and permanently inactivated in each cell (called X-inactivation). X-inactivation prevents female cells from having twice as many functional X chromosomes as males. Because X-inactivation is usually random, the X chromosome inherited from the mother is active in some cells, and the X chromosome inherited from the father is active in other cells. However, when a female has an X chromosome with a duplicated copy of the MECP2 gene, the abnormal chromosome is often preferentially inactivated in many or all cells. This is called "skewed X-inactivation." It prevents some women with an MECP2 duplication from developing features of the duplication since the extra genetic material is not active. In most cases, MECP2 duplication syndrome is inherited from a mother who has no signs or symptoms of the duplication. Rarely, the condition is not inherited and occurs due to a random event during the formation of the egg or sperm, or in early fetal development. When this happens, it is called a de novo duplication (occurring as a new genetic change for the first time in the affected person).


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[User] What is (are) Syndromic microphthalmia, type 3 ?

[Assistant] Syndromic microphthalmia, type 3 is a rare condition that affects the eyes and other parts of the body. Babies with this condition are generally born without eyeballs (anophthalmia) or with eyes that are unusually small (microphthalmia). Both of these abnormalities can be associated with severe vision loss. Other signs and symptoms of syndromic microphthalmia, type 3 may include seizures, brain malformations, esophageal atresia, delayed motor development, learning disabilities, and sensorineural hearing loss. The condition is caused by changes (mutations) in the SOX2 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.


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[User] What is (are) FOXG1 syndrome ?

[Assistant] FOXG1 syndrome is a condition characterized by impaired development and structural brain abnormalities. Affected infants are small at birth, and their heads grow more slowly than normal, leading to an unusually small head size (microcephaly) by early childhood. The condition is associated with a particular pattern of brain malformations that includes a thin or underdeveloped connection between the right and left halves of the brain (a structure called the corpus callosum), reduced folds and grooves (gyri) on the surface of the brain, and a smaller than usual amount of brain tissue known as white matter.  FOXG1 syndrome affects most aspects of development, and children with the condition typically have severe intellectual disability. Abnormal or involuntary movements, such as jerking movements of the arms and legs and repeated hand motions, are common, and most affected children do not learn to sit or walk without assistance. Babies and young children with FOXG1 syndrome often have feeding problems, sleep disturbances, seizures, irritability, and excessive crying. The condition is also characterized by limited communication and social interaction, including poor eye contact and a near absence of speech and language skills. Because of these social impairments, FOXG1 syndrome is classified as an autism spectrum disorder.  FOXG1 syndrome was previously described as a congenital variant of Rett syndrome, which is a similar disorder of brain development. Both disorders are characterized by impaired development, intellectual disability, and problems with communication and language. However, Rett syndrome is diagnosed almost exclusively in females, while FOXG1 syndrome affects both males and females. Rett syndrome also involves a period of apparently normal early development that does not occur in FOXG1 syndrome. Because of these differences, physicians and researchers now usually consider FOXG1 syndrome to be distinct from Rett syndrome.


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[User] Is congenital sucrase-isomaltase deficiency inherited ?

[Assistant] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


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[User] What are the symptoms of Myelofibrosis ?

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


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

[Assistant] The NINDS supports and conducts research on disorders of the brain and nervous system such as striatonigral degeneration. This research focuses on finding ways to prevent and treat these disorders.


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[User] what research (or clinical trials) is being done for Adult Hodgkin Lymphoma ?

[Assistant]
New types of treatment are being tested in clinical trials.
                    This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website.     Chemotherapy and radiation therapy with stem cell transplant     High-dose chemotherapy and radiation therapy with stem cell transplant is a way of giving high doses of chemotherapy and radiation therapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After therapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. The use of lower-dose chemotherapy and radiation therapy with stem cell transplant is also being studied.       Monoclonal antibody therapy      Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells.

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

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


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[User] What is (are) Restless legs syndrome ?

[Assistant] Restless legs syndrome is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, which occur mostly while the affected person is sitting or lying down and are worse at night. Movement (i.e. kicking, stretching, rubbing, or pacing) makes the discomfort go away, at least temporarily. Many people with restless legs syndrome also experience uncontrollable, repetitive leg movements that occur while they are sleeping or while relaxed or drowsy. Researchers have described early-onset and late-onset forms of restless legs syndrome. The early-onset form begins before age 45 and progresses slowly. The late-onset form begins after age 45, and its signs and symptoms tend to worsen more rapidly. Restless legs syndrome likely results from a combination of genetic, environmental, and lifestyle factors, many of which are unknown. Treatment is based on the signs and symptoms present in each person.


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[User] Do you have information about Dental Health

[Assistant] Summary : It's important to take care of your mouth and teeth starting in childhood. If you don't, you could have problems with your teeth and gums - like cavities or even tooth loss.     Here's how to keep your mouth and teeth healthy:       - Brush your teeth every day with a fluoride toothpaste    - Clean between your teeth every day with floss or another type of between-the-teeth cleaner    - Snack smart - limit sugary snacks    - Don't smoke or chew tobacco    - See your dentist or oral health professional regularly       NIH: National Institute of Dental and Craniofacial Research


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[User] What is (are) Ehlers-Danlos Syndrome ?

[Assistant] Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. Connective tissues are proteins that support skin, bones, blood vessels, and other organs.     EDS usually affects your skin, joints and blood vessel walls. Symptoms include       -  Loose joints     -  Fragile, small blood vessels     -  Abnormal scar formation and wound healing     -  Soft, velvety, stretchy skin that bruises easily        There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS. There is no cure. Treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect your joints and prevent injuries.


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[User] What are the treatments for Microcephalic osteodysplastic primordial dwarfism type 1 ?

[Assistant] How might microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) be treated? At this time there are no specific treatments for MOPD1. Treatment is generally supportive. The prognosis is poor for affected individuals, with most of the reported patients dying within the first year of life.


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

[User] What is (are) Congenital pulmonary lymphangiectasia ?

[Assistant] Congenital pulmonary lymphangiectasia is a rare developmental disorder present from birth that affects the lungs. Infants with this condition have abnormally widened lymphatic vessels within the lungs. The lymphatic system, which helps the immune system protect the body against infection and disease, consists of a network of tubular channels that drain a thin watery fluid known as lymph from different areas of the body into the bloodstream. Lymph, which is made up of proteins, fats and certain white blood cells called lymphocytes, accumulates in the tiny spaces between tissue cells. Infants with congenital pulmonary lymphangiectasia often develop severe, potentially life-threatening, respiratory distress shortly after birth. They may also develop cyanosis, a condition caused by low levels of circulating oxygen in the blood which causes the skin to have a bluish tint. The exact cause of the condition is unknown. Congenital pulmonary lymphangiectasia can occur as a primary or secondary disorder. Primary congenital pulmonary lymphangiectasia can occur as an isolated defect within the lungs or as part of a a generalized form of lymphatic vessel malformation that affects the entire body. Secondary congenital pulmonary lymphangiectasia occurs secondary to another condition, often involving the heart.


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

[User] What is (are) bladder cancer ?

[Assistant] Bladder cancer is a disease in which certain cells in the bladder become abnormal and multiply without control or order. The bladder is a hollow, muscular organ in the lower abdomen that stores urine until it is ready to be excreted from the body. The most common type of bladder cancer begins in cells lining the inside of the bladder and is called transitional cell carcinoma (TCC).  Bladder cancer may cause blood in the urine, pain during urination, frequent urination, or the feeling that one needs to urinate without results. These signs and symptoms are not specific to bladder cancer, however. They also can be caused by noncancerous conditions such as infections.


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[User] What is (are) Acrodysplasia scoliosis ?

[Assistant] Acrodysplasia scoliosis is a rare condition that has been reported in two brothers. The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). The underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.


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[User] What are the treatments for Hydrocephalus ?

[Assistant] Hydrocephalus is most often treated with the surgical placement of a shunt system. This system diverts the flow of CSF from a site within the central nervous system to another area of the body where it can be absorbed as part of the circulatory process. A limited number of individuals can be treated with an alternative procedure called third ventriculostomy. In this procedure, a small hole is made in the floor of the third ventricle, allowing the CSF to bypass the obstruction and flow toward the site of resorption around the surface of the brain.


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[User] What are the symptoms of Lissencephaly 1 ?

[Assistant] What are the signs and symptoms of Lissencephaly 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lissencephaly 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebellar hypoplasia - Heterotopia - Hypoplasia of the brainstem - Intellectual disability - Lissencephaly - Muscular hypotonia of the trunk - Pachygyria - Postnatal microcephaly - Seizures - Spastic tetraparesis - Sporadic - Variable expressivity - Ventriculomegaly - 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) pyruvate carboxylase deficiency ?

[Assistant] Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system.  Researchers have identified at least three types of pyruvate carboxylase deficiency, which are distinguished by the severity of their signs and symptoms. Type A, which has been identified mostly in people from North America, has moderately severe symptoms that begin in infancy. Characteristic features include developmental delay and a buildup of lactic acid in the blood (lactic acidosis). Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. In some cases, episodes of lactic acidosis are triggered by an illness or periods without food (fasting). Children with pyruvate carboxylase deficiency type A typically survive only into early childhood.  Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become apparent shortly after birth. This form of the condition has been reported mostly in Europe, particularly France. Affected infants have severe lactic acidosis, a buildup of ammonia in the blood (hyperammonemia), and liver failure. They experience neurological problems including weak muscle tone (hypotonia), abnormal movements, seizures, and coma. Infants with this form of the condition usually survive for less than 3 months after birth.  A milder form of pyruvate carboxylase deficiency, sometimes called type C, has also been described. This type is characterized by slightly increased levels of lactic acid in the blood and minimal signs and symptoms affecting the nervous system.


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[User] What is (are) What I need to know about Preparing for Pregnancy if I Have Diabetes ?

[Assistant]
If you have diabetes,* the best time to control your blood glucose, also called blood sugar, is before you get pregnant. High blood glucose levels can be harmful to your baby during the first weeks of pregnancyeven before you know you are pregnant. Blood glucose targets are different for women who are trying to get pregnant. Targets are numbers you aim for.

Pregnancy and new motherhood are times of great excitement and change for any woman. If you have type 1 or type 2 diabetes and are hoping to get pregnant soon, you can learn what to do to have a healthy baby. You can also learn how to take care of yourself and your diabetes before, during, and after your pregnancy. If you have diabetes and are already pregnant, don't panic! Just make sure you are doing everything you can to take care of yourself and your diabetes during your pregnancy.

For Women with Gestational Diabetes   More information about gestational diabetes, a type of diabetes that develops only during pregnancy, is provided in the NIDDK health topic, What I need to know about Gestational Diabetes.

*See Pronunciation Guide for tips on how to say the words in bold type.

If you have diabetes, your pregnancy is considered high risk, which means you have an increased risk of problems during your pregnancy. You need to pay special attention to your health, and you may need to see doctors who specialize in treating diabetes or its complications. Millions of high-risk pregnancies, such as those in which women are older than 35 or carrying two or more babies, produce perfectly healthy babies without affecting the mother's health.


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[User] What are the symptoms of Emery-Dreifuss muscular dystrophy, X-linked ?

[Assistant] What are the signs and symptoms of Emery-Dreifuss muscular dystrophy, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Emery-Dreifuss muscular dystrophy, X-linked. 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 neck - Achilles tendon contracture - Atrioventricular block - Childhood onset - Decreased cervical spine flexion due to contractures of posterior cervical muscles - Elbow flexion contracture - Elevated serum creatine phosphokinase - Juvenile onset - Pectus excavatum - Primary atrial arrhythmia - Slow progression - Sudden cardiac death - Type 1 muscle fiber atrophy - Waddling gait - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] How to diagnose Kyasanur Forest Disease (KFD) ?

[Assistant] Diagnosis can be made in the early stage of illness by molecular detection by PCR or virus isolation from blood. Later, serologic testing using enzyme-linked immunosorbent serologic assay (ELISA) can be performed.


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[User] What are the symptoms of Spondyloepimetaphyseal dysplasia Matrilin-3 related ?

[Assistant] What are the signs and symptoms of Spondyloepimetaphyseal dysplasia Matrilin-3 related? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia Matrilin-3 related. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bowing of the legs - Disproportionate short-limb short stature - Dysplastic iliac wings - Flat acetabular roof - Hypoplastic pubic bone - Irregular epiphyses - Limited elbow extension - Lumbar hyperlordosis - Metaphyseal spurs - Metaphyseal widening - Micromelia - Narrow iliac wings - Ovoid vertebral bodies - Platyspondyly - Posterior rib cupping - Short long bone - Small epiphyses - Spondyloepimetaphyseal dysplasia - Thoracic hypoplasia - Waddling gait - 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.


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

[User] What are the symptoms of Mucopolysaccharidosis type IVA ?

[Assistant] What are the signs and symptoms of Mucopolysaccharidosis type IVA? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IVA. 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 epiphysis morphology 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Delayed skeletal maturation 90% Gait disturbance 90% Genu valgum 90% Hearing impairment 90% Joint hypermobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Pectus carinatum 90% Reduced bone mineral density 90% Short neck 90% Short stature 90% Short thorax 90% Abnormality of dental enamel 50% Abnormality of the heart valves 50% Abnormality of the hip bone 50% Anteverted nares 50% Carious teeth 50% Coarse facial features 50% Hernia 50% Hyperlordosis 50% Joint dislocation 50% Kyphosis 50% Platyspondyly 50% Scoliosis 50% Spinal canal stenosis 50% Wide mouth 50% Cognitive impairment 7.5% Macrocephaly 7.5% Autosomal recessive inheritance - Cervical myelopathy - Cervical subluxation - Chondroitin sulfate excretion in urine - Constricted iliac wings - Coxa valga - Disproportionate short-trunk short stature - Epiphyseal deformities of tubular bones - Flaring of rib cage - Grayish enamel - Hepatomegaly - Hypoplasia of the odontoid process - Inguinal hernia - Joint laxity - Juvenile onset - Keratan sulfate excretion in urine - Mandibular prognathia - Metaphyseal widening - Osteoporosis - Ovoid vertebral bodies - Pointed proximal second through fifth metacarpals - Prominent sternum - Recurrent upper respiratory tract infections - Restrictive lung disease - Ulnar deviation of the wrist - Widely spaced teeth - 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) juvenile primary lateral sclerosis ?

[Assistant] Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. The features of this disorder are caused by damage to motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement.  Symptoms of juvenile primary lateral sclerosis begin in early childhood and progress slowly over many years. Early symptoms include clumsiness, muscle weakness and spasticity in the legs, and difficulty with balance. As symptoms progress, the spasticity spreads to the arms and hands and individuals develop slurred speech, drooling, difficulty swallowing, and an inability to walk.


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[User] What is (are) Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ?

[Assistant]
Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and impaired cognitive development, which can be moderate or severe. Respiratory infections are frequent. COFS is diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy, as the fetus moves very little, and some of the abnormalities result, in part, from lack of movement.

A small number of individuals with COFS have a mutation in the "ERCC6" gene and are more appropriately diagnosed as having Cockayne Syndrome Type II. Other individuals with COFS may have defects in the xeroderma pigmentosum genes "XPG" or "XPD." Still others who are diagnosed with COFS have no identifiable genetic defect and are presumably affected because of mutations in a distinct, as-yet-unknown gene.

NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome).


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[User] What to do for Nutrition for Advanced Chronic Kidney Disease in Adults ?

[Assistant] - A person may prevent or delay some health problems from chronic kidney disease (CKD) by eating the right foods and avoiding foods high in sodium, potassium, and phosphorus.  - The kidneys remove wastes and extra water from the blood and make urine.  - Medical nutrition therapy (MNT) is the use of counseling by a registered dietitian to help promote a medical or health goal.  - Dietitians who specialize in helping people with CKD are called renal dietitians.  - People with advanced CKD often lose their appetites and consume fewer caloriesimportant units of energy in foodand may lose too much weight.  - Eating more protein than the body needs may put an extra burden on the kidneys and cause kidney function to decline faster. Most peoplewith or without CKDcan get the daily protein they need by eating two 3-ounce servings of meat or meat substitute.  - People with CKD are at higher risk of having a heart attack or stroke.  - Everyone needs dietary fat, but some fats are healthier than others.  - Too much sodium in a persons diet can be harmful because it causes blood to hold fluid. People with CKD need to be careful not to let too much fluid build up in their bodies.  - People with advanced CKD should avoid salt substitutes that use potassium because CKD limits the bodys ability to eliminate potassium from the blood.  - Damaged kidneys allow potassium to build up in the blood, causing serious heart problems. Potassium is found in many fruits and vegetables, such as bananas, potatoes, avocados, and melons.  - Too much phosphorus in the blood pulls calcium from the bones, making the bones weak and likely to break.  - People with advanced CKD may need to limit how much they drink because damaged kidneys can't remove extra fluid.  - Many patients find that keeping track of their test results helps them see how their treatment is working. Patients can ask their health care provider for copies of their lab reports and ask to have them explained, noting any results out of the normal range.


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[User] Is Kienbock's disease inherited ?

[Assistant] Is Kienbock's disease inherited? There is currently no evidence that Kienbock's disease is inherited. However, the cause of Kienbock's disease is not known. It is possible that unidentified genetic factors contribute to the development of the condition.


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

[Assistant] Mutations in the SLC12A6 gene cause Andermann syndrome. The SLC12A6 gene provides instructions for making a protein called a K-Cl cotransporter. This protein is involved in moving charged atoms (ions) of potassium (K) and chlorine (Cl) across the cell membrane. The positively charged potassium ions and negatively charged chlorine ions are moved together (cotransported), so that the charges inside and outside the cell membrane are unchanged (electroneutral).  Electroneutral cotransport of ions across cell membranes is involved in many functions of the body. While the specific function of the K-Cl cotransporter produced from the SLC12A6 gene is unknown, it seems to be critical for the development and maintenance of nerve tissue. It may be involved in regulating the amounts of potassium, chlorine, or water in cells and intercellular spaces. The K-Cl cotransporter protein may also help regulate the activity of other proteins that are sensitive to ion concentrations.  Mutations in the SLC12A6 gene that cause Andermann syndrome disrupt the function of the K-Cl cotransporter protein. The lack of functional protein normally produced from the SLC12A6 gene is believed to interfere with the development of the corpus callosum and maintenance of the nerves that transmit signals needed for movement and sensation, resulting in the signs and symptoms of Andermann syndrome.


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[User] What is (are) Movement Disorders ?

[Assistant] Imagine if parts of your body moved when you didn't want them to. If you have a movement disorder, you experience these kinds of impaired movement. Dyskinesia is abnormal uncontrolled movement and is a common symptom of many movement disorders. Tremors are a type of dyskinesia.     Nerve diseases cause many movement disorders, such as Parkinson's disease. Other causes include injuries, autoimmune diseases, infections and certain medicines. Many movement disorders are inherited, which means they run in families.    Treatment varies by disorder. Medicine can cure some disorders. Others get better when an underlying disease is treated. Often, however, there is no cure. In that case, the goal of treatment is to improve symptoms and relieve pain.


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[User] How to diagnose Pituitary Tumors ?

[Assistant] Imaging studies and tests that examine the blood and urine are used to detect (find) and diagnose a pituitary tumor. The following tests and procedures may be used:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken.     -  Eye exam: An exam to check vision and the general health of the eyes.    -  Visual field exam: An exam to check a persons field of vision (the total area in which objects can be seen). This test measures both central vision (how much a person can see when looking straight ahead) and peripheral vision (how much a person can see in all other directions while staring straight ahead). The eyes are tested one at a time. The eye not being tested is covered.    -   Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam.     -   MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain and spinal cord. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI).    -   Blood chemistry study : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as glucose (sugar), 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.     -  Blood tests: Tests to measure the levels of testosterone or estrogen in the blood. A higher or lower than normal amount of these hormones may be a sign of pituitary tumor.    -  Twenty-four-hour urine test: A test in which urine is collected for 24 hours to measure the amounts of certain substances. An unusual (higher or lower than normal) amount of a substance can be a sign of disease in the organ or tissue that makes it. A higher than normal amount of the hormone cortisol may be a sign of a pituitary tumor and Cushing syndrome.     -  High-dose dexamethasone suppression test: A test in which one or more high doses of dexamethasone are given. The level of cortisol is checked from a sample of blood or from urine that is collected for three days. This test is done to check if the adrenal gland is making too much cortisol or if the pituitary gland is telling the adrenal glands to make too much cortisol.    -  Low-dose dexamethasone suppression test: A test in which one or more small doses of dexamethasone are given. The level of cortisol is checked from a sample of blood or from urine that is collected for three days. This test is done to check if the adrenal gland is making too much cortisol.     -   Venous sampling for pituitary tumors: A procedure in which a sample of blood is taken from veins coming from the pituitary gland. The sample is checked to measure the amount of ACTH released into the blood by the gland. Venous sampling may be done if blood tests show there is a tumor making ACTH, but the pituitary gland looks normal in the imaging tests.     -   Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer.  The following tests may be done on the sample of tissue that is removed:               -  Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer.      -  Immunocytochemistry : A test that uses antibodies to check for certain antigens in a sample of cells. The antibody is usually linked to a radioactive substance or a dye that causes the cells to light up under a microscope. This type of test may be used to tell the difference between different types of cancer.      -  Light and electron microscopy : A laboratory test in which cells in a sample of tissue are viewed under regular and high-powered microscopes to look for certain changes in the cells.


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

[Assistant] Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. Alpha-galactosidase A normally breaks down a fatty substance called globotriaosylceramide. Mutations in the GLA gene alter the structure and function of the enzyme, preventing it from breaking down this substance effectively. As a result, globotriaosylceramide builds up in cells throughout the body, particularly cells lining blood vessels in the skin and cells in the kidneys, heart, and nervous system. The progressive accumulation of this substance damages cells, leading to the varied signs and symptoms of Fabry disease.  GLA gene mutations that result in an absence of alpha-galactosidase A activity lead to the classic, severe form of Fabry disease. Mutations that decrease but do not eliminate the enzyme's activity usually cause the milder, late-onset forms of Fabry disease that affect only the heart or kidneys.


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[User] What is (are) Hallermann-Streiff syndrome ?

[Assistant] Hallermann-Streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature. Intellectual disability is present in some individuals. Almost all reported cases of the condition appear to have occurred randomly for unknown reasons (sporadically) and are thought to have resulted from a new mutation in the affected individual. Treatment is symptomatic and supportive.


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[User] What is (are) Rett syndrome ?

[Assistant] Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills. Additional signs and symptoms may include repetitive, stereotypic hand movements; fits of screaming and inconsolable crying; autistic features; panic-like attacks; teeth grinding (bruxism); episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Some people have an atypical form of Rett syndrome that may be more mild or more severe. Classic Rett syndrome is most commonly caused by mutations in the MECP2 gene and is usually inherited in an X-linked dominant manner. The vast majority of cases are not inherited from a parent, but are due to a new mutation in the affected person. Treatment mainly focuses on the specific signs and symptoms of the condition.


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[User] What are the symptoms of Microphthalmia syndromic 8 ?

[Assistant] What are the signs and symptoms of Microphthalmia syndromic 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Cognitive impairment 90% Mandibular prognathia 90% Median cleft lip 90% Microcephaly 90% Split foot 90% Cryptorchidism 50% Triphalangeal thumb 50% Visual impairment 50% Ventricular septal defect 7.5% Blepharophimosis - Cleft palate - Intellectual disability - Microcornea - Microphthalmia - Oral cleft - Premature skin wrinkling - Short palpebral fissure - Widely-spaced maxillary central incisors - 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 Sulfite oxidase deficiency ?

[Assistant] What are the signs and symptoms of Sulfite oxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Sulfite oxidase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agitation - Ataxia - Autosomal recessive inheritance - Choreoathetosis - Death in infancy - Decreased urinary sulfate - Delayed eruption of teeth - Ectopia lentis - Eczema - Fine hair - Generalized dystonia - Hemiplegia - Hypertonia - Increased urinary sulfite - Infantile muscular hypotonia - Seizures - Sulfite oxidase deficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] Who is at risk for Extragonadal Germ Cell Tumors? ?

[Assistant] Age and gender can affect the risk of extragonadal germ cell tumors. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for malignant extragonadal germ cell tumors include the following:         - Being male.    - Being age 20 or older.    - Having Klinefelter syndrome.


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[User] What is (are) familial idiopathic basal ganglia calcification ?

[Assistant] Familial idiopathic basal ganglia calcification (FIBGC, formerly known as Fahr disease) is a condition characterized by abnormal deposits of calcium (calcification) in the brain. These calcium deposits typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement; however, other brain regions can also be affected.  The signs and symptoms of FIBGC include movement disorders and psychiatric or behavioral difficulties. These problems begin in adulthood, usually in a person's thirties. The movement difficulties experienced by people with FIBGC include involuntary tensing of various muscles (dystonia), problems coordinating movements (ataxia), and uncontrollable movements of the limbs (choreoathetosis). Affected individuals often have seizures as well. The psychiatric and behavioral problems include difficulty concentrating, memory loss, changes in personality, a distorted view of reality (psychosis), and decline in intellectual function (dementia). An estimated 20 to 30 percent of people with FIBGC have one of these psychiatric disorders.  The severity of this condition varies among affected individuals; some people have no symptoms related to the brain calcification, whereas other people have significant movement and psychiatric problems.


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[User] What is (are) Pycnodysostosis ?

[Assistant] Pycnodysostosis is a rare condition characterized by moderate short stature (1.35m to 1.5m), increased density of the bones (osteosclerosis/osteopetrosis), underdevelopment of the tips of the fingers with absent or small nails, an abnomal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead and dental abnormalities. Pycnodysostosis is an autosomal recessive genetic condition.  The gene has been mapped to the same location as the gene for cathepsin K on chromosome 1q21.  The diagnosis of pycnodysostosis is based on physical features and X-ray findings.  Molecular genetic testing is available.  Management is symptomatic.  Individuals need orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery may be needed.


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[User] What is (are) Marden-Walker syndrome ?

[Assistant] Marden-Walker syndrome is a connective tissue disorder characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation (a generalized slowing down of physical reactions, movements, and speech). While the underlying cause has not been clearly established, it is believed to be a developmental disorder of the central nervous system which is inherited in an autosomal recessive manner.


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[User] What are the treatments for Bilateral perisylvian polymicrogyria ?

[Assistant] How might bilateral perisylvian polymicrogyria be treated? There is no cure for bilateral perisylvian polymicrogyria (BPP). Treatment is generally based on the signs and symptoms present in each person. For example, medications may be prescribed to treat seizures and/or epilepsy. People affected by BPP may also benefit from physical therapy, occupational therapy and/or speech therapy. Please speak with a healthcare provider for more specific information regarding personal medical management.


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[User] How to diagnose Branchiooculofacial syndrome ?

[Assistant] How is branchiooculofacial syndrome (BOFS) diagnosed? BOFS can be diagnosed clinically based on the characteristic features of this condition. Genetic testing can also confirm the diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for branchiooculofacial syndrome. To view the contact information for the clinical laboratories conducting testing, click here. To access the contact information for the research laboratories performing genetic testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.


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[User] What are the treatments for Duane-radial ray syndrome ?

[Assistant] These resources address the diagnosis or management of Duane-radial ray syndrome:  - Gene Review: Gene Review: SALL4-Related Disorders  - Genetic Testing Registry: Duane-radial ray syndrome  - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities   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 to diagnose Respiratory Distress Syndrome ?

[Assistant]
Respiratory distress syndrome (RDS) is common in premature infants. Thus, doctors usually recognize and begin treating the disorder as soon as babies are born.

Doctors also do several tests to rule out other conditions that could be causing an infant's breathing problems. The tests also can confirm that the doctors have diagnosed the condition correctly.

The tests include:

Chest x ray. A chest x ray creates a of the structures inside the chest, such as the heart and lungs. This test can show whether your infant has signs of RDS. A chest x ray also can detect problems, such as a collapsed lung, that may require urgent treatment.

Blood tests. Blood tests are used to see whether an infant has enough oxygen in his or her blood. Blood tests also can help find out whether an infection is causing the infant's breathing problems.

Echocardiography (echo). This test uses sound waves to create a moving picture of the heart. Echo is used to rule out heart defects as the cause of an infant's breathing problems.


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[User] What is (are) Parsonage Turner syndrome ?

[Assistant] Parsonage Turner syndrome is characterized by the sudden onset of shoulder and upper arm pain followed by progressive (worsening over time) weakness and/or atrophy of the affected area. Although the exact cause is unknown, researchers believe that most cases are due to an autoimmune response following exposure to an illness or environmental factor. Suspected triggers include viral and bacterial infections; surgery; vaccinations; injury; childbirth; strenuous exercise; certain medical procedures; and various health conditions. Treatment is symptomatic and may include pain relievers and physical therapy.


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[User] How to prevent Deep Vein Thrombosis ?

[Assistant]
You can take steps to prevent deep vein thrombosis (DVT) and pulmonary embolism (PE). If you're at risk for these conditions:

See your doctor for regular checkups.

Take all medicines as your doctor prescribes.

Get out of bed and move around as soon as possible after surgery or illness (as your doctor recommends). Moving around lowers your chance of developing a blood clot.

Exercise your lower leg muscles during long trips. This helps prevent blood clots from forming.

If you've had DVT or PE before, you can help prevent future blood clots. Follow the steps above and:

Take all medicines that your doctor prescribes to prevent or treat blood clots

Follow up with your doctor for tests and treatment

Use compression stockings as your doctor directs to prevent leg swelling

Contact your doctor at once if you have any signs or symptoms of DVT or PE. For more information, go to "What Are the Signs and Symptoms of Deep Vein Thrombosis?"

Travel Tips

The risk of developing DVT while traveling is low. The risk increases if the travel time is longer than 4 hours or you have other DVT risk factors.

During long trips, it may help to:

Walk up and down the aisles of the bus, train, or airplane. If traveling by car, stop about every hour and walk around.

Move your legs and flex and stretch your feet to improve blood flow in your calves.

Wear loose and comfortable clothing.

Drink plenty of fluids and avoid alcohol.

If you have risk factors for DVT, your doctor may advise you to wear compression stockings while traveling. Or, he or she may suggest that you take a blood-thinning medicine before traveling.


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[User] What are the treatments for white sponge nevus ?

[Assistant] These resources address the diagnosis or management of white sponge nevus:  - Genetic Testing Registry: White sponge nevus of cannon   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) Depression ?

[Assistant] Major depressive disorder, also called major depression or clinical depression, is characterized by a combination of symptoms that interfere with your ability to work, sleep, concentrate, eat, and enjoy activities you once liked. Major depression keeps a person from functioning normally. Dysthymic disorder, or dysthymia, is a less severe but sometimes more long-lasting form of depression. It is characterized by symptoms lasting two years or longer that keep you from functioning normally or feeling well. Subsyndromal depression, affecting many older adults, includes real symptoms of depression that are less severe than major depression or dysthymia. Having sybsydromal depression may increase your risk of developing major depression. Psychotic depression  occurs when a person has severe depression plus some form of psychosis, such as having disturbing false beliefs or a break with reality (delusions), or hearing or seeing upsetting things that others cannot hear or see (hallucinations). Bipolar depression  also called manic-depressive illness, is not as common as major depression or dysthymia. Bipolar disorder is characterized by cycling mood changesfrom extreme highs (e.g., mania) to extreme lows (e.g., depression).


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[User] What is (are) Bilateral frontoparietal polymicrogyria ?

[Assistant] Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia, strabismus, and dysconjugate gaze (eyes that are not aligned). Some cases are caused by mutations in the GPR56 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.


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[User] How to diagnose Endometrial Cancer ?

[Assistant] Tests that examine the endometrium are used to detect (find) and diagnose endometrial cancer. Because endometrial cancer begins inside the uterus, it does not usually show up in the results of a Pap test. For this reason, a sample of endometrial tissue must be removed and checked under a microscope to look for cancer cells. One of the following procedures may be used:         -   Endometrial biopsy : The removal of tissue from the endometrium (inner lining of the uterus) by inserting a thin, flexible tube through the cervix and into the uterus. The tube is used to gently scrape a small amount of tissue from the endometrium and then remove the tissue samples. A pathologist views the tissue under a microscope to look for cancer cells.    -   Dilatation and curettage : A procedure to remove samples of tissue from the inner lining of the uterus. The cervix is dilated and a curette (spoon-shaped instrument) is inserted into the uterus to remove tissue. The tissue samples are checked under a microscope for signs of disease. This procedure is also called a D&C.    -  Hysteroscopy: A procedure to look inside the uterus for abnormal areas. A hysteroscope is inserted through the vagina and cervix into the uterus. A hysteroscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of cancer.        Other tests and procedures used to diagnose endometrial cancer include the following:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken.    -   Transvaginal ultrasound exam: A procedure used to examine the vagina, uterus, fallopian tubes, and bladder. An ultrasound transducer (probe) is inserted into the vagina and used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The doctor can identify tumors by looking at the sonogram.


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[User] What are the treatments for Angina ?

[Assistant]
Treatments for angina include lifestyle changes, medicines, medical procedures, cardiac rehabilitation (rehab), and other therapies. The main goals of treatment are to:

Reduce pain and discomfort and how often it occurs

Prevent or lower your risk for heart attack and death by treating your underlying heart condition

Lifestyle changes and medicines may be the only treatments needed if your symptoms are mild and aren't getting worse. If lifestyle changes and medicines don't control angina, you may need medical procedures or cardiac rehab.

Unstable angina is an emergency condition that requires treatment in a hospital.

Lifestyle Changes

Making lifestyle changes can help prevent episodes of angina. You can:

Slow down or take rest breaks if physical exertion triggers angina.

Avoid large meals and rich foods that leave you feeling stuffed if heavy meals trigger angina.

Try to avoid situations that make you upset or stressed if emotional stress triggers angina. Learn ways to handle stress that can't be avoided.

You also can make lifestyle changes that help lower your risk for coronary heart disease. One of the most important changes is to quit smoking. Smoking can damage and tighten blood vessels and raise your risk for CHD. Talk with your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke.

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

For more information about how to quit smoking, go to the Diseases and Conditions Index (DCI) Smoking and Your Heart article and the National Heart, Lung, and Blood Institutes (NHLBIs) "Your Guide to a Healthy Heart."

Following a healthy diet is another important lifestyle change. A healthy diet can prevent or reduce high blood pressure and high blood cholesterol and help you maintain a healthy weight.

A healthy diet includes a variety of fruits and vegetables (including beans and peas). It also includes whole grains, lean meats, poultry without skin, seafood, and fat-free or low-fat milk and dairy products. A healthy diet also is low in sodium (salt), added sugars, solid fats, and refined grains.

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

Other important lifestyle changes include:

Being physically active. Check with your doctor to find out how much and what kinds of activity are safe for you. For more information, go to the DCI Physical Activity and Your Heart article.

Maintaining a healthy weight. If youre overweight or obese, work with your doctor to create a reasonable weight-loss plan. Controlling your weight helps you control CHD risk factors.

Taking all medicines as your doctor prescribes, especially if you have diabetes.

Medicines

Nitrates are the medicines most commonly used to treat angina. They relax and widen blood vessels. This allows more blood to flow to the heart, while reducing the hearts workload.

Nitroglycerin (NI-tro-GLIS-er-in) is the most commonly used nitrate for angina. Nitroglycerin that dissolves under your tongue or between your cheek and gum is used to relieve angina episodes.

Nitroglycerin pills and skin patches are used to prevent angina episodes. However, pills and skin patches act too slowly to relieve pain during an angina attack.

Other medicines also are used to treat angina, such as beta blockers, calcium channel blockers, ACE inhibitors, oral antiplatelet medicines, or anticoagulants (blood thinners). These medicines can help:

Lower blood pressure and cholesterol levels

Slow the heart rate

Relax blood vessels

Reduce strain on the heart

Prevent blood clots from forming

People who have stable angina may be advised to get annual flu shots.

Medical Procedures

If lifestyle changes and medicines don't control angina, you may need a medical procedure to treat the underlying heart disease. Both angioplasty (AN-jee-oh-plas-tee) and coronary artery bypass grafting (CABG) are commonly used to treat heart disease.

Angioplasty opens blocked or narrowed coronary arteries. During angioplasty, a thin tube with a balloon or other device on the end is threaded through a blood vessel to the narrowed or blocked coronary artery.

Once in place, the balloon is inflated to push the plaque outward against the wall of the artery. This widens the artery and restores blood flow.

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

During CABG, healthy arteries or veins taken from other areas in your body are used to bypass (that is, go around) your narrowed coronary arteries. Bypass surgery can improve blood flow to your heart, relieve chest pain, and possibly prevent a heart attack.

You will work with your doctor to decide which treatment is better for you.

Cardiac Rehabilitation

Your doctor may recommend cardiac rehab for angina or after angioplasty, CABG, or a heart attack. Cardiac rehab is a medically supervised program that can help improve the health and well-being of people who have heart problems.

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

Rehab has two parts:

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

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

For more information about cardiac rehab, go to the DCI Cardiac Rehabilitation article.

Enhanced External Counterpulsation Therapy

Enhanced external counterpulsation (EECP) therapy is helpful for some people who have angina. Large cuffs, similar to blood pressure cuffs, are put on your legs. The cuffs are inflated and deflated in sync with your heartbeat.

EECP therapy improves the flow of oxygen-rich blood to your heart muscle and helps relieve angina. You typically get 35 1-hour treatments over 7 weeks.


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[User] How to diagnose Dihydropyrimidine dehydrogenase deficiency ?

[Assistant] How is dihydropyrimidine dehydrogenase (DPD) deficiency diagnosed? DPD deficiency may be diagnosed in various ways. In individuals with complete or profound DPD deficiency, laboratory testing can detect elevated levels of uracil and/or thymine in plasma or urine. Partial DPD deficiency is more difficult to detect, which has led to the development of a radioenzymatic test for the DPD enzyme. This test has remained the gold standard for diagnosing DPD deficiency even after the development of genetic testing for the condition, because of the complexity of the DPYD gene and the presence of multiple DNA sequence variations present in most affected individuals. Various types of cells and tissues can be examined this way. More recently, a rapid, noninvasive, and cost-effective breath test was developed. This test permits the evaluation of DPD activity (normal activity and partial or profound deficiency) before the administration of fluoropyrmidine drugs such as 5-FU.


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[User] What are the genetic changes related to Leber hereditary optic neuropathy ?

[Assistant] Mutations in the MT-ND1, MT-ND4, MT-ND4L, or MT-ND6 gene can cause LHON. These genes are found in the DNA of cellular structures called mitochondria, which convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA, known as mitochondrial DNA or mtDNA.  The genes associated with LHON each provide instructions for making a protein involved in normal mitochondrial function. These proteins are part of a large enzyme complex in mitochondria that helps convert oxygen, fats, and simple sugars to energy. Mutations in any of the genes disrupt this process. It remains unclear how these genetic changes cause the death of cells in the optic nerve and lead to the specific features of LHON.  A significant percentage of people with a mutation that causes LHON do not develop any features of the disorder. Specifically, more than 50 percent of males with a mutation and more than 85 percent of females with a mutation never experience vision loss or related health problems. Additional factors may determine whether a person develops the signs and symptoms of this disorder. Environmental factors such as smoking and alcohol use may be involved, although studies have produced conflicting results. Researchers are also investigating whether changes in additional genes contribute to the development of signs and symptoms.


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[User] What are the treatments for incontinentia pigmenti ?

[Assistant] These resources address the diagnosis or management of incontinentia pigmenti:  - Gene Review: Gene Review: Incontinentia Pigmenti  - Genetic Testing Registry: Incontinentia pigmenti syndrome  - MedlinePlus Encyclopedia: Incontinentia Pigmenti 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 is (are) Nephrogenic diabetes insipidus ?

[Assistant] Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to pass a large amount of urine. Nephrogenic diabetes insipidus occurs when the kidney tubules, which allow water to be removed from the body or reabsorbed, do not respond to a chemical in the body called antidiuretic hormone (ADH) or vasopressin. ADH normally tells the kidneys to make the urine more concentrated. As a result of the defect, the kidneys release an excessive amount of water into the urine, producing a large quantity of very dilute urine. Nephrogenic diabetes insipidus can be either acquired or hereditary. The acquired form is brought on by certain drugs and chronic diseases and can occur at any time during life. The hereditary form is caused by genetic mutations, and its signs and symptoms usually become apparent within the first few months of life.


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[User] Do you have information about Seniors' Health

[Assistant] Summary : People in the U.S. are living longer than ever before. Many seniors live active and healthy lives. But there's no getting around one thing: as we age, our bodies and minds change. There are things you can do to stay healthy and active as you age.It is important to understand what to expect. Some changes may just be part of normal aging, while others may be a warning sign of a medical problem. It is important to know the difference, and to let your healthcare provider know if you have any concerns.    Having a healthy lifestyle can help you to deal with normal aging changes and make the most of your life.