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

[User] What is (are) Sjgren syndrome ?

[Assistant] Sjgren syndrome is a disorder whose main features are dry eyes and a dry mouth. The condition typically develops gradually beginning in middle adulthood, but can occur at any age.  Sjgren syndrome is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. In Sjgren syndrome, the immune system primarily attacks the glands that produce tears (the lacrimal glands) and saliva (the salivary glands), impairing the glands' ability to secrete these fluids.  Dry eyes may lead to itching, burning, a feeling of sand in the eyes, blurry vision, or intolerance of bright or fluorescent lighting. A dry mouth can feel chalky or full of cotton, and affected individuals may have difficulty speaking, tasting food, or swallowing. Because saliva helps protect the teeth and the tissues of the oral cavity, people with Sjgren syndrome are at increased risk of tooth decay and infections in the mouth.  In most people with Sjgren syndrome, dry eyes and dry mouth are the primary features of the disorder, and general health and life expectancy are largely unaffected. However, in some cases the immune system also attacks and damages other organs and tissues. This complication is known as extraglandular involvement. Affected individuals may develop inflammation in connective tissues, which provide strength and flexibility to structures throughout the body. Disorders involving connective tissue inflammation are sometimes called rheumatic conditions. In Sjgren syndrome, extraglandular involvement may result in painful inflammation of the joints and muscles; dry, itchy skin and skin rashes; chronic cough; a hoarse voice; kidney and liver problems; numbness or tingling in the hands and feet; and, in women, vaginal dryness. Prolonged and extreme tiredness (fatigue) severe enough to affect activities of daily living may also occur in this disorder. A small number of people with Sjgren syndrome develop lymphoma, a blood-related cancer that causes tumor formation in the lymph nodes.  When Sjgren syndrome first occurs on its own, it is called primary Sjgren syndrome. Some individuals who are first diagnosed with another rheumatic disorder, such as rheumatoid arthritis or systemic lupus erythematosus, later develop the dry eyes and dry mouth characteristic of Sjgren syndrome. In such cases, the individual is said to have secondary Sjgren syndrome. Other autoimmune disorders can also develop after the onset of primary Sjgren syndrome. In all, about half of all individuals with Sjgren syndrome also have another autoimmune disorder.


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

[User] What are the symptoms of 19p13.12 microdeletion syndrome ?

[Assistant] What are the signs and symptoms of 19p13.12 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 19p13.12 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Neurological speech impairment 90% Anteverted nares 50% Arrhythmia 50% Atria septal defect 50% Attention deficit hyperactivity disorder 50% Brachydactyly syndrome 50% Broad forehead 50% Clinodactyly of the 5th finger 50% Epicanthus 50% Intrauterine growth retardation 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Muscular hypotonia 50% Narrow nasal bridge 50% Reduced number of teeth 50% Scoliosis 50% Seizures 50% Sensorineural hearing impairment 50% Short neck 50% Synophrys 50% Thin vermilion border 50% Ventriculomegaly 50% Abnormality of lipid metabolism 7.5% Abnormality of the aortic valve 7.5% Abnormality of the mitral valve 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Conductive hearing impairment 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Deep palmar crease 7.5% Deep plantar creases 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Hepatic steatosis 7.5% Hypertelorism 7.5% Hypothyroidism 7.5% Kyphosis 7.5% Myopia 7.5% Nystagmus 7.5% Obesity 7.5% Precocious puberty 7.5% Proptosis 7.5% Sandal gap 7.5% Self-injurious behavior 7.5% Strabismus 7.5% Tibial deviation of toes 7.5% Ventricular septal defect 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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

[User] What is (are) Breast Cancer ?

[Assistant]
Key Points
                    - Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast.    - Breast cancer is the second most common type of cancer in American women.

                    Breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast.
                    The breast is made up of lobes and ducts. Each breast has 15 to 20 sections called lobes, which have many smaller sections called lobules. Lobules end in dozens of tiny bulbs that can make milk. The lobes, lobules, and bulbs are linked by thin tubes called ducts.     Each breast also has blood vessels and lymph vessels. The lymph vessels carry an almost colorless fluid called lymph. Lymph vessels lead to organs called lymph nodes. Lymph nodes are small bean-shaped structures that are found throughout the body. They filter lymph and store white blood cells that help fight infection and disease. Clusters of lymph nodes are found near the breast in the axilla (under the arm), above the collarbone, and in the chest.   See the following PDQ summaries for more information about breast cancer:         -  Breast Cancer Screening     -  Breast Cancer Treatment     -  Breast Cancer Treatment and Pregnancy     -  Male Breast Cancer Treatment     -  Genetics of Breast and Ovarian Cancer

                    Breast cancer is the second most common type of cancer in American women.
                    Women in the United States get breast cancer more than any other type of cancer except skin cancer. Breast cancer is second to lung cancer as a cause of cancer death in American women. However, deaths from breast cancer have decreased a little bit every year between 2003 and 2012. Breast cancer also occurs in men, but the number of new cases is small.


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

[User] How many people are affected by autosomal dominant nocturnal frontal lobe epilepsy ?

[Assistant] ADNFLE appears to be an uncommon form of epilepsy; its prevalence is unknown. This condition has been reported in more than 100 families worldwide.


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

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

[Assistant] OFCD syndrome is very rare; the incidence is estimated to be less than 1 in 1 million people.


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

[User] What are the treatments for rippling muscle disease ?

[Assistant] These resources address the diagnosis or management of rippling muscle disease:  - Gene Review: Gene Review: Caveolinopathies  - Genetic Testing Registry: Rippling muscle disease   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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

[User] What are the symptoms of Cryptomicrotia brachydactyly syndrome ?

[Assistant] What are the signs and symptoms of Cryptomicrotia brachydactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cryptomicrotia brachydactyly 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) Abnormal dermatoglyphics 90% Short distal phalanx of finger 90% Bifid scrotum 50% Freckling 50% Hypoplastic toenails 50% Telecanthus 50% Autosomal dominant inheritance - Brachytelomesophalangy - Chordee - Microtia - 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 Hallermann-Streiff syndrome ?

[Assistant] What are the signs and symptoms of Hallermann-Streiff syndrome? The signs and symptoms of Hallermann-Streiff syndrome vary in range and severity among affected individuals. The main features of the condition include abnormalities of the skull and facial bones with distinctive facial characteristics (craniofacial abnormalities); ocular (eye) abnormalities; dental abnormalities; and/or short stature. Craniofacial features may include a short, broad head (brachycephaly) with an unusually prominent forehead and/or sides of the skull (frontal bossing); a small, underdeveloped lower jaw (micrognathia); a narrow, highly arched roof of the mouth (palate); and a thin, pinched, tapering nose (beaked nose). Ocular abnormalities may include clouding of the lenses of the eyes at birth (congenital cataracts); unusually small eyes (microphthalmia); and/or other abnormalities. Dental defects may include the presence of teeth at birth (natal teeth) and/or absence, malformation, or improper alignment of teeth. Hypotrichosis (sparse hair) is present in about 80 percent of affected individuals. Other features may include skin atrophy of the face, and/or hypoplasia (underdevelopment) of the clavicles and ribs. Intellectual disability is present in some cases (approximately 15 percent). In many cases, additional abnormalities are present. The Human Phenotype Ontology provides the following list of signs and symptoms for Hallermann-Streiff syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the clavicle 90% Abnormality of the ribs 90% Alopecia 90% Aplasia/Hypoplasia affecting the eye 90% Aplasia/Hypoplasia of the skin 90% Cataract 90% Convex nasal ridge 90% Frontal bossing 90% Reduced bone mineral density 90% Short stature 90% Abnormality of hair texture 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the nares 50% Abnormality of the palate 50% Advanced eruption of teeth 50% Glossoptosis 50% Hypoplasia of the zygomatic bone 50% Increased number of teeth 50% Narrow mouth 50% Recurrent fractures 50% Telecanthus 50% Visual impairment 50% Intellectual disability 15% Abdominal situs inversus 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Choanal atresia 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Cryptorchidism 7.5% Glaucoma 7.5% Hypothyroidism 7.5% Inflammatory abnormality of the eye 7.5% Microcephaly 7.5% Myopia 7.5% Nystagmus 7.5% Respiratory insufficiency 7.5% Short foot 7.5% Short palm 7.5% Strabismus 7.5% Tracheomalacia 7.5% Abnormality of the hand - Abnormality of the nasopharynx - Blue sclerae - Brachycephaly - Choreoathetosis - Chorioretinal coloboma - Decreased number of sternal ossification centers - Dental malocclusion - Dermal atrophy - Dolichocephaly - Dry skin - Fine hair - Generalized tonic-clonic seizures - High palate - Hyperactivity - Hyperlordosis - Hypotrichosis of the scalp - Iris coloboma - Joint hypermobility - Low-set ears - Malar flattening - Metaphyseal widening - Microphthalmia - Narrow nose - Narrow palate - Natal tooth - Obstructive sleep apnea - Optic nerve coloboma - Parietal bossing - Pectus excavatum - Platybasia - Proportionate short stature - Pulmonary hypertension - Recurrent pneumonia - Recurrent respiratory infections - Scoliosis - Selective tooth agenesis - Slender long bone - Small for gestational age - Sparse eyebrow - Sparse eyelashes - Sparse hair - Spina bifida - Sporadic - Telangiectasia - Thin calvarium - Thin ribs - Thin vermilion border - Underdeveloped nasal alae - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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

[User] What is (are) X-linked dominant scapuloperoneal myopathy ?

[Assistant] X-linked scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the FHL1 gene. These cases are inherited in an X-linked dominant manner. Treatment is symptomatic and supportive.


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

[User] What causes Diabetes ?

[Assistant] Type 1 diabetes is an autoimmune disease. In an autoimmune reaction, antibodies, or immune cells, attach to the body's own healthy tissues by mistake, signaling the body to attack them. At present, scientists do not know exactly what causes the body's immune system to attack the insulin-producing cells in the pancreas in people with type 1 diabetes. However, many believe that both genetic factors and environmental factors are involved. Studies now are underway to identify these factors and prevent type 1 diabetes in people at risk. Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin.  Get more details about who should be tested for diabetes.


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

[User] What is (are) Clouston syndrome ?

[Assistant] Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected.  In infants with Clouston syndrome, scalp hair is sparse, patchy, and lighter in color than the hair of other family members; it is also fragile and easily broken. By puberty, the hair problems may worsen until all the hair on the scalp is lost (total alopecia). The eyelashes, eyebrows, underarm (axillary) hair, and pubic hair are also sparse or absent.  Abnormal growth of fingernails and toenails (nail dystrophy) is also characteristic of Clouston syndrome. The nails may appear white in the first years of life. They grow slowly and gradually become thick and misshapen. In some people with Clouston syndrome, nail dystrophy is the most noticeable feature of the disorder.  Many people with Clouston syndrome have thick skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis); areas of the skin, especially over the joints, that are darker in color than the surrounding skin (hyperpigmentation); and widened and rounded tips of the fingers (clubbing).


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

[User] Is distal arthrogryposis type 1 inherited ?

[Assistant] This condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In many cases, a person with distal arthrogryposis type 1 has a parent and other close family members with the condition.


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

[User] What are the symptoms of Heart Failure ?

[Assistant] Common Symptoms The most common symptoms of heart failure include shortness of breath or difficulty breathing, feeling tired, and swelling. Swelling usually occurs in the ankles, feet, legs, and sometimes in the abdomen. Swelling is caused by fluid buildup in the body. The fluid buildup can lead to weight gain as well as a cough. The cough can be worse at night and when lying down. When symptoms first begin, you might feel tired or short of breath after routine physical activities, such as climbing stairs. As heart failure progresses, the symptoms get worse. You may feel tired or short of breath after performing simple activities, like getting dressed.


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

[User] What are the treatments for ADCY5-related dyskinesia ?

[Assistant] These resources address the diagnosis or management of ADCY5-related dyskinesia:  - Gene Review: Gene Review: ADCY5-Related Dyskinesia  - Genetic Testing Registry: Dyskinesia, familial, with facial myokymia  - National Ataxia Foundation: Movement Disorder Clinics   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


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

[User] What are the symptoms of Cholestasis, progressive familial intrahepatic 4 ?

[Assistant] What are the signs and symptoms of Cholestasis, progressive familial intrahepatic 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Cholestasis, progressive familial intrahepatic 4. 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) Elevated hepatic transaminases 90% Hepatomegaly 90% Abnormality of coagulation 50% Gastrointestinal hemorrhage 50% Splenomegaly 50% Cirrhosis 7.5% Nyctalopia 7.5% Peripheral neuropathy 7.5% Pruritus 7.5% Reduced bone mineral density 7.5% Abnormality of the coagulation cascade - Acholic stools - Autosomal recessive inheritance - Diarrhea - Failure to thrive - Giant cell hepatitis - Hepatic failure - Hyperbilirubinemia - Hypocholesterolemia - Intrahepatic cholestasis - Jaundice - Neonatal onset - Steatorrhea - 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] How to diagnose Erythromelalgia ?

[Assistant] How is erythromelalgia diagnosed? Erythromelalgia can be diagnosed through a clinical exam and medical history. Additional tests may include a skin biopsy and thermography to evaluate skin temperature. Blood tests or other studies may be done to rule out other conditions that can cause similar symptoms. There is not a specific type of doctor that always diagnoses and treats erythromelalgia. A variety of specialists (alone or in combination) may be involved in the diagnosis and treatment of this condition. These may include vascular specialists, hematologists, dermatologists, neurologists, rheumatologists, and other types of physicians. The type of specialist that is appropriate may depend on the underlying cause when secondary erythromelalgia is present. Since erythromelalgia is a rare disease, many doctors are not familiar with the condition. The Erythromelalgia Association offers resources and support for individuals looking for more information about the diagnosis of the condition.


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

[User] What is the outlook for Neuroaxonal dystrophy ?

[Assistant] INAD is a progressive disease. Once symptoms begin, they will worsen over time. Generally, a babys development starts to slow down between the ages of 6 months to 3 years. The first symptoms may be slowing of motor and mental development, followed by loss or regression of previously acquired skills. Rapid, wobbly eye movements and squints may be the first symptoms, followed by floppiness in the body and legs (more than in the arms). For the first few years, a baby with INAD will be alert and responsive, despite being increasingly physically impaired. Eventually, because of deterioration in vision, speech, and mental skills, the child will lose touch with its surroundings. Death usually occurs between the ages of 5 to 10 years.


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

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

[Assistant] The exact prevalence of MPS IV is unknown, although it is estimated to occur in 1 in 200,000 to 300,000 individuals.


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

[User] How many people are affected by Loeys-Dietz syndrome ?

[Assistant] The prevalence of Loeys-Dietz syndrome is unknown. Loeys-Dietz syndrome types I and II appear to be the most common forms.


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

[User] Is Treacher Collins syndrome inherited ?

[Assistant] When Treacher Collins syndrome results from mutations in the TCOF1 or POLR1D gene, it is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 60 percent of these cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In the remaining autosomal dominant cases, a person with Treacher Collins syndrome inherits the altered gene from an affected parent.  When Treacher Collins syndrome is caused by mutations in the POLR1C gene, the condition has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


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

[User] How to diagnose Proteinuria ?

[Assistant] Tests that measure the amount of creatinine in the blood will show whether a persons kidneys are removing wastes efficiently. Having too much creatinine in the blood is a sign that a person has kidney damage. The doctor can use the creatinine measurement to estimate how efficiently the kidneys are filtering the blood. This calculation is called the estimated glomerular filtration rate, or eGFR. CKD is present when the eGFR is less than 60 milliliters per minute (mL/min).


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

[User] What are the symptoms of DCMA syndrome ?

[Assistant] What are the signs and symptoms of DCMA syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for DCMA 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) 3-Methylglutaric aciduria - Autosomal recessive inheritance - Congestive heart failure - Cryptorchidism - Decreased testicular size - Dilated cardiomyopathy - Glutaric aciduria - Hypospadias - Intellectual disability - Intrauterine growth retardation - Microvesicular hepatic steatosis - Muscle weakness - Noncompaction cardiomyopathy - Nonprogressive cerebellar ataxia - Normochromic microcytic anemia - Optic atrophy - Prolonged QT interval - Sudden cardiac 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.


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

[User] What are the symptoms of Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA ?

[Assistant] What are the signs and symptoms of Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA. 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 renal tubule 90% Constipation 90% Irregular hyperpigmentation 90% Short stature 90% Cerebral cortical atrophy 50% Hearing impairment 50% Incoordination 50% Muscular hypotonia 50% Ptosis 50% Reduced bone mineral density 50% Type I diabetes mellitus 50% Abnormal electroretinogram 7.5% Visual impairment 7.5% Ataxia - Blindness - Blotching pigmentation of the skin - Dehydration - Developmental regression - Diarrhea - Failure to thrive - Hepatomegaly - Mitochondrial inheritance - Mottled pigmentation of photoexposed areas - Myoclonus - Ophthalmoparesis - Osteoporosis - Pigmentary retinal deposits - Polyuria - Proximal tubulopathy - Rickets - Undetectable electroretinogram - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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

[User] How many people are affected by harlequin ichthyosis ?

[Assistant] Harlequin ichthyosis is very rare; its exact incidence is unknown.


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

[User] What are the symptoms of Endometrial Cancer ?

[Assistant] Signs and symptoms of endometrial cancer include unusual vaginal bleeding or pain in the pelvis. These and other signs and symptoms may be caused by endometrial cancer or by other conditions. Check with your doctor if you have any of the following:         - Vaginal bleeding or discharge not related to menstruation (periods).    - Vaginal bleeding after menopause.    - Difficult or painful urination.    - Pain during sexual intercourse.    - Pain in the pelvic area.


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

[User] What is (are) X-linked visceral heterotaxy 1 ?

[Assistant] X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia). Affected individuals can also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly , myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia.


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

[User] What are the symptoms of Glaucoma sleep apnea ?

[Assistant] What are the signs and symptoms of Glaucoma sleep apnea? The Human Phenotype Ontology provides the following list of signs and symptoms for Glaucoma sleep apnea. 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) Glaucoma 90% Respiratory insufficiency 90% Sleep apnea - 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] Is Prothrombin thrombophilia inherited ?

[Assistant] How is prothrombin thrombophilia inherited? Prothrombin thrombophilia is inherited in an autosomal dominant manner. For this condition, this means that having one mutated copy of the disease-causing gene (F2) in each cell may be sufficient to cause signs or symptoms of the condition. The mutation in the F2 gene that causes prothrombin thrombophilia is called 20210G>A (also called the 20210G>A allele). An individual can be heterozygous (having the mutation in only one copy of the F2 gene) or homozygous (having a mutation in both copies of the F2 gene). Heterozygosity results in an increased risk for thrombosis; homozygosity results in more severe thrombophilia and/or increased risk for thrombosis. All individuals reported to date with prothrombin thrombophilia who are heterozygous for the 20210G>A allele have had an affected parent. Because of the relatively high prevalence of this allele in the general population, occasionally one parent is homozygous or both parents are heterozygous for this allele. When an individual who is heterozygous for the 20210G>A allele has children, each child has a 50% (1 in 2) risk to inherit that allele and also be heterozygous. An individual who is homozygous will always pass one of the 20210G>A alleles to each of his/her children. If two heterozygotes have children together, each child has a 25% (1 in 4) risk to be homozygous (having 2 mutated copies), a 50% risk to be heterozygous like each parent, and a 25% risk to inherit 2 normal copies of the F2 gene.


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

[User] What are the complications of Polycystic Kidney Disease ?

[Assistant]
Babies with the most severe cases of autosomal recessive PKD often die hours or days after birth because they cannot breathe well enough to sustain life. Their lungs do not develop as they should during the prenatal period. Pressure from enlarged kidneys also contributes to breathing problems.

Children born with autosomal recessive PKD often develop kidney failure before reaching adulthood.

Liver scarring occurs in all people with autosomal recessive PKD and is usually present at birth. However, liver problems tend to become more of a concern as people with autosomal recessive PKD grow older. Liver scarring can lead to progressive liver dysfunction and other problems.

Additional complications of autosomal recessive PKD include high blood pressure and UTIs.


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

[User] What is (are) Ulcerative Colitis ?

[Assistant] Ulcerative colitis (UC) is a disease that causes inflammation and sores, called ulcers, in the lining of the rectum and colon. It is one of a group of diseases called inflammatory bowel disease.    UC can happen at any age, but it usually starts between the ages of 15 and 30. It tends to run in families. The most common symptoms are pain in the abdomen and blood or pus in diarrhea. Other symptoms may include       - Anemia    - Severe tiredness    - Weight loss    - Loss of appetite    - Bleeding from the rectum    - Sores on the skin    - Joint pain    - Growth failure in children       About half of people with UC have mild symptoms.    Doctors use blood tests, stool tests, colonoscopy or sigmoidoscopy, and imaging tests to diagnose UC. Several types of drugs can help control it. Some people have long periods of remission, when they are free of symptoms. In severe cases, doctors must remove the colon.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases


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

[User] What is (are) corticosteroid-binding globulin deficiency ?

[Assistant] Corticosteroid-binding globulin deficiency is a condition with subtle signs and symptoms, the most frequent being extreme tiredness (fatigue), especially after physical exertion. Many people with this condition have unusually low blood pressure (hypotension). Some affected individuals have a fatty liver or experience chronic pain, particularly in their muscles. These features vary among affected individuals, even those within the same family.  Many people with corticosteroid-binding globulin deficiency have only one or two of these features; others have no signs and symptoms of the disorder and are only diagnosed after a relative is found to be affected.  Some people with corticosteroid-binding globulin deficiency also have a condition called chronic fatigue syndrome. The features of chronic fatigue syndrome are prolonged fatigue that interferes with daily activities, as well as general symptoms, such as sore throat or headaches.


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

[User] What are the treatments for heterotaxy syndrome ?

[Assistant] These resources address the diagnosis or management of heterotaxy syndrome:  - Boston Children's Hospital: Tests for Heterotaxy Syndrome  - Gene Review: Gene Review: Primary Ciliary Dyskinesia  - Genetic Testing Registry: Atrioventricular septal defect, partial, with heterotaxy syndrome  - Genetic Testing Registry: Heterotaxy 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


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

[User] How many people are affected by neurofibromatosis type 2 ?

[Assistant] Neurofibromatosis type 2 has an estimated incidence of 1 in 33,000 people worldwide.


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

[User] What are the genetic changes related to hereditary sensory neuropathy type IA ?

[Assistant] Mutations in the SPTLC1 gene cause hereditary sensory neuropathy type IA. The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important components of cell membranes and play a role in many cell functions.  SPTLC1 gene mutations reduce the amount of functional SPTLC1 subunit that is produced, which results in an SPT enzyme with altered activity. This altered enzyme makes molecules called deoxysphingoid bases, which it does not normally produce. Because of this new function, the SPT enzyme's production of sphingolipid is reduced. Overall, there does not seem to be a decrease in sphingolipid production because the body is able to compensate for the SPT enzyme's reduced production. When accumulated, deoxysphingoid bases are toxic to neurons. The gradual destruction of nerve cells caused by the buildup of these toxic molecules results in loss of sensation and muscle weakness in people with hereditary sensory neuropathy type IA. Although the SPT enzyme does not produce a normal amount of sphingolipids, the body is able to compensate, and there does not seem to be an overall reduction of these fats in the body.


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

[User] What is (are) Eosinophilic fasciitis ?

[Assistant] Eosinophilic fasciitis is a very rare condition in which muscle tissue underneath the skin, called fascia, becomes swollen and thick. Rapid swelling can occur in the hands, arms, legs, and feet. People with this condition have a buildup of eosinophils, a type of white blood cell, in the affected fascia and muscles. The exact cause of this condition is unknown. Corticosteroids and other immune-suppressing medications are used to relieve the symptoms. Eosinophilic fasciitis is similar in appearance to scleroderma but is not related.


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

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

[Assistant] The National Institute of Neurological Disorders and Stroke supports and conducts research on neurodegenerative disorders, such as neurosyphilis, in an effort to find ways to prevent, treat, and ultimately cure these disorders.


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

[User] What are the symptoms of X-linked Charcot-Marie-Tooth disease type 5 ?

[Assistant] What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 5. 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) Decreased nerve conduction velocity 90% Hearing impairment 90% Optic atrophy 90% Pes cavus 90% Impaired pain sensation 50% Gait disturbance 7.5% Hemiplegia/hemiparesis 7.5% Incoordination 7.5% Kyphosis 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Scoliosis 7.5% Tremor 7.5% Areflexia of lower limbs - Childhood onset - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Motor delay - Onion bulb formation - Progressive visual loss - Segmental peripheral demyelination/remyelination - Sensorineural hearing impairment - 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.


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

[User] Is type A insulin resistance syndrome inherited ?

[Assistant] Type A insulin resistance syndrome can have either an autosomal dominant or, less commonly, an autosomal recessive pattern of inheritance.  In autosomal dominant inheritance, one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.  In autosomal recessive inheritance, both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


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

[User] What are the treatments for prion disease ?

[Assistant] These resources address the diagnosis or management of prion disease:  - Creutzfeldt-Jakob Disease Foundation: Suggestions for Patient Care  - Gene Review: Gene Review: Genetic Prion Diseases  - Genetic Testing Registry: Genetic prion diseases  - MedlinePlus Encyclopedia: Creutzfeldt-Jakob disease  - MedlinePlus Encyclopedia: Kuru  - University of California, San Fransisco Memory and Aging Center: Living With Creutzfeldt-Jakob Disease  - University of California, San Fransisco Memory and Aging Center: Treatments for Creutzfeldt-Jakob Disease   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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

[User] What are the genetic changes related to recombinant 8 syndrome ?

[Assistant] Recombinant 8 syndrome is caused by a rearrangement of chromosome 8 that results in a deletion of a piece of the short (p) arm and a duplication of a piece of the long (q) arm. The deletion and duplication result in the recombinant 8 chromosome. The signs and symptoms of recombinant 8 syndrome are related to the loss and addition of genetic material on these regions of chromosome 8. Researchers are working to determine which genes are involved in the deletion and duplication on chromosome 8.


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

[User] What are the symptoms of Spinocerebellar ataxia autosomal recessive 5 ?

[Assistant] What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 5. 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 - Ankle clonus - Autosomal recessive inheritance - Babinski sign - Bowel incontinence - Cerebellar atrophy - Clonus - Congenital onset - Decreased body weight - Dilated fourth ventricle - Dystonia - Esotropia - Flexion contracture - Intellectual disability, progressive - Intellectual disability, severe - Microcephaly - Neurological speech impairment - Nonprogressive - Oculomotor apraxia - Optic atrophy - Short stature - Spasticity - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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

[User] What is the outlook for Adult Acute Myeloid Leukemia ?

[Assistant] Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on:         - The age of the patient.    - The subtype of AML.    - Whether the patient received chemotherapy in the past to treat a different cancer.    - Whether there is a history of a blood disorder such as myelodysplastic syndrome.    - Whether the cancer has spread to the central nervous system.    - Whether the cancer has been treated before or recurred (come back).         It is important that acute leukemia be treated right away.


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

[User] What are the treatments for Unverricht-Lundborg disease ?

[Assistant] These resources address the diagnosis or management of Unverricht-Lundborg disease:  - Gene Review: Gene Review: Unverricht-Lundborg Disease  - Genetic Testing Registry: Unverricht-Lundborg 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


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

[User] What is (are) 2q37 deletion syndrome ?

[Assistant] 2q37 deletion syndrome is a rare chromosome condition that can affect many parts of the body. Approximately 100 cases have been reported worldwide. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. 2q37 deletion syndrome is caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2. Most cases are not inherited.


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

[User] Who is at risk for Sickle Cell Disease? ?

[Assistant]
In the United States, most people with sickle cell disease (SCD) are of African ancestry or identify themselves as black.

About 1 in 13 African American babies is born with sickle cell trait.

About 1 in every 365 black children is born with sickle cell disease.

There are also many people with this disease who come from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds.

Approximately 100,000 Americans have SCD.


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

[User] What is (are) Schnitzler syndrome ?

[Assistant] Schnitzler syndrome is a rare autoinflammatory condition. Signs and symptoms of the condition vary but may include urticaria; recurrent fevers; joint pain and inflammation; organomegaly (abnormally enlarged organs); and/or blood abnormalities. The exact underlying cause of the condition is unknown; however, most cases occur sporadically in people with no family history of the condition. Treatment is focused on alleviating the signs and symptoms associated with the condition and may include various medications and/or phototherapy.


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

[User] What is (are) Skin Cancer ?

[Assistant] Basal cell carcinoma develops in the basal cells of the epidermis, the outer layer of the skin. It is the most common type of skin cancer in the United States, but it spreads slowly and is rarely life-threatening. Basal cell carcinoma occurs most often on parts of the body that have been exposed to the sun, such as the face, ears, neck, hands and legs. However, it can be found on any part of the body.


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

[User] What is (are) What I need to know about Erectile Dysfunction ?

[Assistant]
Erectile dysfunction* is when you cannot get or keep an erection firm enough to have sex. You may have ED if you

- can get an erection sometimes, though not every time  - can get an erection, yet it does not last long enough for sex  - are unable to get an erection at all

ED is sometimes called impotence; however, doctors use this term less often now.

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


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

[User] Who is at risk for Neuroblastoma? ?

[Assistant]
Key Points
                    - Screening tests have risks.    - The risks of neuroblastoma screening include the following:         -  Neuroblastoma may be overdiagnosed.     - False-negative test results can occur.     - False-positive test results can occur.

                    Screening tests have risks.
                    Decisions about screening tests can be difficult. Not all screening tests are helpful and most have risks. Before having any screening test, you may want to discuss the test with your doctor. It is important to know the risks of the test and whether it has been proven to reduce the risk of dying from cancer.

                    The risks of neuroblastoma screening include the following:
                    Neuroblastoma may be overdiagnosed.     When a screening test result leads to the diagnosis and treatment of a disease that may never have caused symptoms or become life-threatening, it is called overdiagnosis. For example, when a urine test result shows a higher than normal amount of homovanillic acid (HMA) or vanillyl mandelic acid (VMA), tests and treatments for neuroblastoma are likely to be done, but may not be needed. At this time, it is not possible to know which neuroblastomas found by a screening test will cause symptoms and which neuroblastomas will not. Diagnostic tests (such as biopsies) and cancer treatments (such as surgery, radiation therapy, and chemotherapy) can have serious risks, including physical and emotional problems.       False-negative test results can occur.    Screening test results may appear to be normal even though neuroblastoma is present. A person who receives a false-negative test result (one that shows there is no cancer when there really is) may delay seeking medical care even if there are symptoms.       False-positive test results can occur.    Screening test results may appear to be abnormal even though no cancer is present. A false-positive test result (one that shows there is cancer when there really isn't) can cause anxiety and is usually followed by more tests and procedures, which also have risks.


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

[User] What are the genetic changes related to essential thrombocythemia ?

[Assistant] The JAK2 and CALR genes are the most commonly mutated genes in essential thrombocythemia. The MPL, THPO, and TET2 genes can also be altered in this condition. The JAK2, MPL, and THPO genes provide instructions for making proteins that promote the growth and division (proliferation) of blood cells. The CALR gene provides instructions for making a protein with multiple functions, including ensuring the proper folding of newly formed proteins and maintaining the correct levels of stored calcium in cells. The TET2 gene provides instructions for making a protein whose function is unknown.  The proteins produced from the JAK2, MPL, and THPO genes are part of a signaling pathway called the JAK/STAT pathway, which transmits chemical signals from outside the cell to the cell's nucleus. These proteins work together to turn on (activate) the JAK/STAT pathway, which promotes the proliferation of blood cells, particularly platelets and their precursor cells, megakaryocytes.  Mutations in the JAK2, MPL, and THPO genes that are associated with essential thrombocythemia lead to overactivation of the JAK/STAT pathway. The abnormal activation of JAK/STAT signaling leads to overproduction of megakaryocytes, which results in an increased number of platelets. Excess platelets can cause thrombosis, which leads to many signs and symptoms of essential thrombocythemia.  Although mutations in the CALR and TET2 genes have been found in people with essential thrombocythemia, it is unclear how these gene mutations are involved in development of the condition.  Some people with essential thrombocythemia do not have a mutation in any of the known genes associated with this condition. Researchers are working to identify other genes that may be involved in the condition.


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

[User] Is Opitz G/BBB syndrome inherited ?

[Assistant] When caused by mutations in the MID1 gene, Opitz G/BBB syndrome has an X-linked pattern of inheritance. It is considered X-linked because the MID1 gene is located on the X chromosome, one of the two sex chromosomes in each cell. In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell is sufficient to cause the condition. In females, who have two copies of the X chromosome, one altered copy of the gene in each cell can lead to less severe features of the condition or may cause no symptoms at all. Because it is unlikely that females will have two altered copies of the MID1 gene, females with X-linked Opitz G/BBB syndrome typically have hypertelorism as the only sign of the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  Rarely, Opitz G/BBB syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. These cases are caused by a mutation in the SPECC1L gene or by a deletion of genetic material from one copy of chromosome 22 in each cell. Males and females with autosomal dominant Opitz G/BBB syndrome usually have the same severity of symptoms.  In both types of Opitz G/BBB syndrome, some affected people inherit the genetic change from an affected parent. Other cases may result from new mutations. These cases occur in people with no history of the disorder in their family.


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

[User] How many people are affected by thiopurine S-methyltransferase deficiency ?

[Assistant] Studies suggest that less than 1 percent of individuals in the general population have TPMT deficiency. Another 11 percent have moderately reduced levels of TPMT activity that increase their risk of hematopoietic toxicity with thiopurine drug treatment.


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

[User] What causes Causes of Diabetes ?

[Assistant]
Insulin Resistance and Beta Cell Dysfunction

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

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

Family History

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

Future Risk of Type 2 Diabetes

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

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


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

[User] What are the genetic changes related to pyridoxal 5'-phosphate-dependent epilepsy ?

[Assistant] Mutations in the PNPO gene cause pyridoxal 5'-phosphate-dependent epilepsy. The PNPO gene provides instructions for producing an enzyme called pyridoxine 5'-phosphate oxidase. This enzyme is involved in the conversion (metabolism) of vitamin B6 derived from food (in the form of pyridoxine and pyridoxamine) to the active form of vitamin B6 called pyridoxal 5'-phosphate (PLP). PLP is necessary for many processes in the body including protein metabolism and the production of chemicals that transmit signals in the brain (neurotransmitters).  PNPO gene mutations result in a pyridoxine 5'-phosphate oxidase enzyme that is unable to metabolize pyridoxine and pyridoxamine, leading to a deficiency of PLP. A shortage of PLP can disrupt the function of many other proteins and enzymes that need PLP in order to be effective. It is not clear how the lack of PLP affects the brain and leads to the seizures that are characteristic of pyridoxal 5'-phosphate-dependent epilepsy.


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

[User] What are the treatments for Osteoarthritis ?

[Assistant] People with osteoarthritis may find many non-drug ways to relieve pain. Below are some examples. Heat and cold.  Heat or cold (or a combination of the two) can be useful for joint pain. Heat can be applied in a number of different ways -- with warm towels, hot packs, or a warm bath or shower -- to increase blood flow and ease pain and stiffness. In some cases, cold packs (bags of ice or frozen vegetables wrapped in a towel), which reduce inflammation, can relieve pain or numb the sore area. (Check with a doctor or physical therapist to find out if heat or cold is the best treatment.) Transcutaneous electrical nerve stimulation (TENS). TENS is a technique that uses a small electronic device to direct mild electric pulses to nerve endings that lie beneath the skin in the painful area. TENS may relieve some arthritis pain. It seems to work by blocking pain messages to the brain and by modifying pain perception. Massage.  In this pain-relief approach, a massage therapist will lightly stroke and/or knead the painful muscles. This may increase blood flow and bring warmth to a stressed area. However, arthritis-stressed joints are sensitive, so the therapist must be familiar with the problems of the disease. Acupuncture.  Some people have found pain relief using acupuncture, a practice in which fine needles are inserted by a licensed acupuncture therapist at specific points on the skin. Scientists think the needles stimulate the release of natural, pain-relieving chemicals produced by the nervous system. A large study supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Center for Complementary and Alternative Medicine (NCCAM) revealed that acupuncture relieves pain and improves function in knee osteoarthritis, and it serves as an effective complement to standard care. Nutritional supplements, such as glucosamine and chondroitin sulfate, have been reported to improve the symptoms of people with osteoarthritis, as have certain vitamins. Additional studies have been carried out to further evaluate these claims. It is unknown whether they might change the course of disease. Folk remedies  include the wearing of copper bracelets, following special diets, and rubbing WD-40 on joints to lubricate them. Although these practices may or may not be harmful, no scientific research to date shows that they are helpful in treating osteoarthritis. They can also be expensive, and using them may cause people to delay or even abandon useful medical treatment. For general information about alternative therapies, see the Complementary Health Approaches  topic.


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

[User] What is (are) Degenerative Nerve Diseases ?

[Assistant] Degenerative nerve diseases affect many of your body's activities, such as balance, movement, talking, breathing, and heart function. Many of these diseases are genetic. Sometimes the cause is a medical condition such as alcoholism, a tumor, or a stroke. Other causes may include toxins, chemicals, and viruses. Sometimes the cause is not known.    Degenerative nerve diseases include       -  Alzheimer's disease    -  Amyotrophic lateral sclerosis    - Friedreich's ataxia    -  Huntington's disease    -  Lewy body disease    - Parkinson's disease     -  Spinal muscular atrophy       Degenerative nerve diseases can be serious or life-threatening. It depends on the type. Most of them have no cure. Treatments may help improve symptoms, relieve pain, and increase mobility.


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

[User] What are the treatments for Erdheim-Chester disease ?

[Assistant] These resources address the diagnosis or management of Erdheim-Chester disease:  - Histiocytosis Association: Erdheim-Chester Disease Diagnosis and Treatment   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


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

[User] What is (are) Pilocytic astrocytoma ?

[Assistant] Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches, nausea, vomiting, balance problems, and vision abnormalities. The underlying cause of a pilocytic astrocytoma is unknown. It most commonly occurs in children and young adults, and in people with neurofibromatosis type 1 (NF1), Li-Fraumeni syndrome, and tuberous sclerosis. This type of tumor can often be cured with surgery.


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

[User] What is (are) Uterine Fibroids ?

[Assistant] Uterine fibroids are the most common benign tumors in women of childbearing age. Fibroids are made of muscle cells and other tissues that grow in and around the wall of the uterus, or womb. The cause of fibroids is unknown. Risk factors include being African American or being overweight.    Many women with fibroids have no symptoms. If you do have symptoms, they may include       - Heavy or painful periods or bleeding between periods     - Feeling "full" in the lower abdomen     - Urinating often     - Pain during sex     - Lower back pain     - Reproductive problems, such as infertility, multiple miscarriages or early labor       Your health care provider may find fibroids during a gynecological exam or by using imaging tests. Treatment includes drugs that can slow or stop their growth, or surgery. If you have no symptoms, you may not even need treatment. Many women with fibroids can get pregnant naturally. For those who cannot, infertility treatments may help.    NIH: National Institute of Child Health and Human Development


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

[User] Is Alpers-Huttenlocher syndrome inherited ?

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


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

[User] What are the treatments for Leukemia ?

[Assistant] Unlike other types of cancer, leukemia isn't a tumor that your doctor can surgically remove. Leukemia cells are produced in the bone marrow and travel throughout the body. The Goal of Treatment The goal of treatment for leukemia is to destroy the leukemia cells and allow normal cells to form in the bone marrow. Depending on the type and extent of the disease, patients may have chemotherapy, biological therapy, radiation therapy, or stem cell transplantation. Some patients receive a combination of treatments. Treatment depends on a number of factors, including the type of leukemia, the patient's age and general health, whether leukemia cells are present in the fluid around the brain or spinal cord, and whether the leukemia has been treated before. It also may depend on certain features of the leukemia cells and the patient's symptoms. Acute Leukemia or Chronic Leukemia? If a person has acute leukemia, they will need treatment right away. The purpose of treatment is to stop the rapid growth of leukemia cells and to bring about remission, meaning the cancer is under control. In many cases, a person will continue treatment after signs and symptoms disappear to prevent the disease from coming back. Some people with acute leukemia can be cured.  Learn more about treatments for acute myeloid leukemia.   Learn more about treatments for chronic lymphocytic leukemia. Chronic leukemia may not need to be treated until symptoms appear. Treatment can often control the disease and its symptoms. Types of Treatments Some, but not all, forms of treatment for leukemia include - chemotherapy  - biological therapy  -  radiation therapy.  chemotherapy biological therapy radiation therapy. Chemotherapy Chemotherapy uses drugs to kill cancer cells. This a common treatment for some types of leukemia. Chemotherapy may be taken by mouth in pill form, by injection directly into a vein, or through a catheter. If leukemia cells are found in the fluid around the brain or spinal cord, the doctor may inject drugs directly into the fluid to ensure that the drugs reach the leukemia cells in the brain. Biological Therapy Biological therapy uses special substances that improve the body's natural defenses against cancer. Some patients with chronic lymphocytic leukemia receive monoclonal antibodies, which are man-made proteins that can identify leukemia cells. Monoclonal antibodies bind to the cells and assist the body in killing them. Although monoclonal antibodies are being used to treat leukemia, researchers are studying more innovative ways to use them in treatment. Some antibodies are used alone to try to prompt the immune system to attack leukemia cells. Other antibodies are attached to substances that can deliver poison to cancer cells. These modified antibodies, called immunotoxins, deliver the toxins directly to the cancer cells. Lately, precision medicine trials have shown evidence that single targeted therapies taken in pill form can prolong survival. Radiation Therapy Radiation therapy uses high-energy X-rays to destroy cancer cells. A machine outside the body directs high-energy beams at the spleen, the brain, or other parts of the body where leukemia cells have collected. Radiation therapy is used primarily to control disease in bones that are at risk of fracture or at sites that are causing pain.


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

[User] Is Usher syndrome, type 2C inherited ?

[Assistant] How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.


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

[User] What are the treatments for Cardiomyopathy ?

[Assistant]
People who have cardiomyopathy but no signs or symptoms may not need treatment. Sometimes, dilated cardiomyopathy that comes on suddenly may go away on its own. For other people who have cardiomyopathy, treatment is needed. Treatment depends on the type of cardiomyopathy you have, the severity of your symptoms and complications, and your age and overall health. Treatments may include:

Heart-healthy lifestyle changes

Medicines

Nonsurgical procedure

Surgery and implanted devices

The main goals of treating cardiomyopathy include:

Controlling signs and symptoms so that you can live as normally as possible

Managing any conditions that cause or contribute to the disease

Reducing complications and the risk of sudden cardiac arrest

Stopping the disease from getting worse

Heart-Healthy Lifestyle Changes

Your doctor may suggest lifestyle changes to manage a condition thats causing your cardiomyopathy including:

Heart-healthy eating

Maintaining a healthy weight

Managing stress

Physical activity

Quitting smoking

Heart-Healthy Eating

Your doctor may recommend heart-healthy eating, which should include:

Fat-free or low-fat dairy products, such as fat-free milk

Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week

Fruits, such as apples, bananas, oranges, pears, and prunes

Legumes, such as kidney beans, lentils, chickpeas, black-eyed peas, and lima beans

Vegetables, such as broccoli, cabbage, and carrots

Whole grains, such as oatmeal, brown rice, and corn tortillas

When following a heart-healthy diet, you should avoid eating:

A lot of red meat

Palm and coconut oils

Sugary foods and beverages

Two nutrients in your diet make blood cholesterol levels rise:

Saturated fatfound mostly in foods that come from animals

Trans fat (trans fatty acids)found in foods made with hydrogenated oils and fats such as stick margarine;baked goods such as, cookies, cakes, and pies, crackers, frostings, and coffee creamers. Some trans fats also occur naturally in animal fats and meats.

Saturated fat raises your blood cholesterol more than anything else in your diet. When you follow a heart-healthy eating plan, only 5 percent to 6percent of your daily calories should come from saturated fat. Food labels list the amounts of saturated fat. To help you stay on track, here are some examples:

Not all fats are bad. Monounsaturated and polyunsaturated fats actually help lower blood cholesterol levels.

Some sources of monounsaturated and polyunsaturated fats are:

Avocados

Corn, sunflower, and soybean oils

Nuts and seeds, such as walnuts

Olive, canola, peanut, safflower, and sesame oils

Peanut butter

Salmon and trout

Tofu

Sodium

Try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 milligrams of sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more.

Dietary Approaches to Stop Hypertension

Your doctor may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and sodium and salt.

The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about DASH.

Alcohol

Talk to your doctor about how much alcohol you drink. Too much alcohol canraise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain. Your doctor may recommend that you reduce the amount of alcohol you drinkor stop drinking alcohol.

Maintaining a Healthy Weight

Maintaining a healthy weight is important for overall health and can lower your risk for coronary heart disease. Aim for a Healthy Weight by following a heart-healthy eating plan and keeping physically active.

Knowing your body mass index (BMI) helps you find out if youre a healthy weight in relation to your height and gives an estimate of your total body fat. To figure out your BMI, check out the National Heart, Lung, and Blood Institutes (NHLBI) onlineBMI calculatoror talk to your doctor.A BMI:

Below 18.5 is a sign that you are underweight.

Between 18.5 and 24.9 is in the normal range.

Between 25 and 29.9 is considered overweight.

Of 30 or more is considered obese.

A general goal to aim for is a BMI of less than 25. Your doctor or health care provider can help you set an appropriate BMI goal.

Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type 2 diabetes. This risk may be high with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visitAssessing Your Weight and Health Risk.

If youre overweight or obese, try to lose weight. A loss of just 3 percent to 5 percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type 2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol.

Managing Stress

Research shows that the most commonly reported trigger for a heart attack is an emotionally upsetting eventparticularly one involving anger. Also, some of the ways people cope with stresssuch as drinking, smoking, or overeatingarent healthy.

Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health.Consider healthy stress-reducing activities, such as:

A stress management program

Meditation

Physical activity

Relaxation therapy

Talking things out with friends or family

Physical Activity

Routine physical activity can lower many risk factors for coronary heart disease, including LDL (bad) cholesterol, high blood pressure, and excess weight. Physical activity also can lower your risk for diabetes and raise your HDL cholesterol level. HDL is the good cholesterol that helps prevent coronary heart disease.

Everyone should try to participate in moderate intensity aerobic exercise at least 2hours and 30minutes per week, or vigorous intensity aerobic exercise for 1hour and 15minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats fasterand you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10 minutes at a time spread throughout the week.

Read more about physical activity at:

Physical Activity and Your Heart

U.S. Department of Health and Human Services 2008 Physical Activity Guidelines forAmericans

Talk with your doctor before you start a new exercise plan. Ask your doctor how much and what kinds of physical activity are safe for you.

Quitting Smoking

If you smoke, quit. Smoking can raise your risk for coronary heart disease and heart attack and worsen other coronary heart disease risk factors. Talk with your doctor about programs and products that can help you quit smoking. 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.

Read more about quitting smoking at Smoking and Your Heart.

Medicines

Many medicines are used to treat cardiomyopathy. Your doctor may prescribe medicines to:

Balance electrolytes in your body. Electrolytes are minerals that help maintain fluid levels and acid-base balance in the body. They also help muscle and nerve tissues work properly. Abnormal electrolyte levels may be a sign of dehydration (lack of fluid in your body), heart failure, high blood pressure, or other disorders. Aldosterone blockers are an example of a medicine used to balance electrolytes.

Keep your heart beating with a normal rhythm. These medicines, called antiarrhythmics, help prevent arrhythmias.

Lower your blood pressure. ACE inhibitors, angiotensin II receptor blockers, beta blockers, and calcium channel blockers are examples of medicines that lower blood pressure.

Prevent blood clots from forming. Anticoagulants, or blood thinners, are an example of a medicine that prevents blood clots. Blood thinners often are used to prevent blood clots from forming in people who have dilated cardiomyopathy.

Reduce inflammation. Corticosteroids are an example of a medicine used to reduce inflammation.

Remove excess sodium from your body. Diuretics, or water pills, are an example of medicines that help remove excess sodium from the body, which reduces the amount of fluid in your blood.

Slow your heart rate. Beta blockers, calcium channel blockers, and digoxin are examples of medicines that slow the heart rate. Beta blockers and calcium channel blockers also are used to lower blood pressure.

Take all medicines regularly, as your doctor prescribes. Dont change the amount of your medicine or skip a dose unless your doctor tells you to.

Surgery and Implanted Devices

Doctors use several types of surgery to treat cardiomyopathy, including septal myectomy, surgically implanted devices, and heart transplant.

Septal Myectomy

Septal myectomy is open-heart surgery and is used to treat people who have hypertrophic cardiomyopathy and severe symptoms. This surgery generally is used for younger patients and for people whose medicines arent working well.

A surgeon removes part of the thickened septum thats bulging into the left ventricle. This improves blood flow through the heart and out to the body. The removed tissue doesnt grow back. If needed, the surgeon also can repair or replace the mitral valve at the same time. Septal myectomy often is successful and allows you to return to a normal life with nosymptoms.

Surgically Implanted Devices

Surgeons can place several types of devices in the heart to improve function and symptoms, including:

Cardiac resynchronization therapy (CRT) device. A CRT device coordinates contractions between the hearts left and right ventricles.

Implantable cardioverter defibrillator(ICD). An ICD helps control life-threatening arrhythmias that may lead tosudden cardiac arrest. This small device is implanted in the chest or abdomen and connected to the heart with wires. If an ICD senses a dangerous change in heart rhythm, it will send an electric shock to the heart to restore a normal heartbeat.

Left ventricular assist device (LVAD). This device helps the heart pump blood to the body. An LVAD can be used as a long-term therapy or as a short-term treatment for people who are waiting for a heart transplant.

Pacemaker. This small device is placed under the skin of your chest or abdomen to help control arrhythmias. The device uses electrical pulses to prompt the heart to beat at a normal rate.

Heart Transplant

For this surgery, a surgeon replaces a persons diseased heart with a healthy heart from a deceased donor. A heart transplant is a last resort treatment for people who have end-stage heart failure. End-stage means the condition has become so severe that all treatments, other than heart transplant, have failed. For more information about this treatment, go to the Heart Transplant Health Topic.

Nonsurgical Procedure

Doctors may use a nonsurgical procedure called alcohol septal ablation to treat cardiomyopathy. During this procedure, the doctor injects ethanol (a type of alcohol) through a tube into the small artery that supplies blood to the thickened area of heart muscle. The alcohol kills cells, and the thickened tissue shrinks to a more normal size. This procedure allows blood to flow freely through the ventricle, which improves symptoms.


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

[User] What are the treatments for Dementia ?

[Assistant] Drugs to specifically treat Alzheimers disease and some other progressive dementias are now available. Although these drugs do not halt the disease or reverse existing brain damage, they can improve symptoms and slow the progression of the disease. This may improve an individuals quality of life, ease the burden on caregivers, or delay admission to a nursing home. Many researchers are also examining whether these drugs may be useful for treating other types of dementia. Many people with dementia, particularly those in the early stages, may benefit from practicing tasks designed to improve performance in specific aspects of cognitive functioning. For example, people can sometimes be taught to use memory aids, such as mnemonics, computerized recall devices, or note taking.


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

[User] How to diagnose Von Willebrand Disease ?

[Assistant]
Early diagnosis of von Willebrand disease (VWD) is important to make sure that you're treated and can live a normal, active life.

Sometimes VWD is hard to diagnose. People who have type 1 or type 2 VWD may not have major bleeding problems. Thus, they may not be diagnosed unless they have heavy bleeding after surgery or some other trauma.

On the other hand, type 3 VWD can cause major bleeding problems during infancy and childhood. So, children who have type 3 VWD usually are diagnosed during their first year of life.

To find out whether you have VWD, your doctor will review your medical history and the results from a physical exam and tests.

Medical History

Your doctor will likely ask questions about your medical history and your family's medical history. He or she may ask about:

Any bleeding from a small wound that lasted more than 15 minutes or started up again within the first 7 days following the injury.

Any prolonged, heavy, or repeated bleeding that required medical care after surgery or dental extractions.

Any bruising with little or no apparent trauma, especially if you could feel a lump under the bruise.

Any nosebleeds that occurred for no known reason and lasted more than 10 minutes despite pressure on the nose, or any nosebleeds that needed medical attention.

Any blood in your stools for no known reason.

Any heavy menstrual bleeding (for women). This bleeding usually involves clots or lasts longer than 7 to 10 days.

Any history of muscle or joint bleeding.

Any medicines you've taken that might cause bleeding or increase the risk of bleeding. Examples include aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs), clopidogrel, warfarin, or heparin.

Any history of liver or kidney disease, blood or bone marrow disease, or high or low blood platelet counts.

Physical Exam

Your doctor will do a physical exam to look for unusual bruising or other signs of recent bleeding. He or she also will look for signs of liver disease or anemia (a low red blood cell count).

Diagnostic Tests

No single test can diagnose VWD. Your doctor may recommend one or more blood tests to diagnose the disorder. These tests may include:

Von Willebrand factor antigen. This test measures the amount of von Willebrand factor in your blood.

Von Willebrand factor ristocetin (ris-to-SEE-tin) cofactor activity. This test shows how well your von Willebrand factor works.

Factor VIII clotting activity. This test checks the clotting activity of factor VIII. Some people who have VWD have low levels of factor VIII activity, while others have normal levels.

Von Willebrand factor multimers. This test is done if one or more of the first three tests are abnormal. It shows the structure of your von Willebrand factor. The test helps your doctor diagnose what type of VWD you have.

Platelet function test. This test measures how well your platelets are working.

You may have these tests more than once to confirm a diagnosis. Your doctor also may refer you to a hematologist to confirm the diagnosis and for followup care. A hematologist is a doctor who specializes in diagnosing and treating blood disorders.


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

[User] What is (are) Alopecia totalis ?

[Assistant] Alopecia totalis (AT) is a condition characterized by the complete loss of hair on the scalp. It is an advanced form of alopecia areata a condition that causes round patches of hair loss. Although the exact cause of AT is unknown, it is thought to be an autoimmune condition in which the immune system mistakenly attacks the hair follicles. Roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of AT. There is currently no cure for AT, but sometimes hair regrowth occurs on it's own, even after many years.


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

[User] What is (are) Best vitelliform macular dystrophy ?

[Assistant] Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected. BVMD is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. The condition is typically caused by mutations in the BEST1 gene; in a few cases the cause is unknown. Treatment is symptomatic and involves the use of low vision aids.


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

[User] What are the symptoms of Mental retardation-hypotonic facies syndrome X-linked, 1 ?

[Assistant] What are the signs and symptoms of Mental retardation-hypotonic facies syndrome X-linked, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation-hypotonic facies syndrome X-linked, 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) Abnormality of the palate 90% Anteverted nares 90% Cognitive impairment 90% Depressed nasal bridge 90% Microcephaly 90% Narrow forehead 90% Short stature 90% Tented upper lip vermilion 90% Behavioral abnormality 50% Genu valgum 50% Neurological speech impairment 50% Obesity 50% Seizures 35% Abnormality of the hip bone 7.5% Camptodactyly of finger 7.5% Cryptorchidism 7.5% Low posterior hairline 7.5% Wide mouth 7.5% Abnormality of blood and blood-forming tissues - Brachydactyly syndrome - Coarse facial features - Constipation - Decreased testicular size - Delayed skeletal maturation - Dolichocephaly - Drooling - Epicanthus - Exotropia - Gastroesophageal reflux - High palate - Hyperactivity - Hyperreflexia - Hypertelorism - Hypogonadism - Hypoplasia of midface - Hypospadias - Infantile muscular hypotonia - Intellectual disability, progressive - Intellectual disability, severe - Kyphoscoliosis - Lower limb hypertonia - Low-set ears - Macroglossia - Malar flattening - Micropenis - Microtia - Open mouth - Optic atrophy - Paroxysmal bursts of laughter - Pes planus - Phenotypic variability - Posteriorly rotated ears - Protruding tongue - Ptosis - Radial deviation of finger - Renal hypoplasia - Scrotal hypoplasia - Sensorineural hearing impairment - Short neck - Short upper lip - Slender finger - Talipes calcaneovalgus - Talipes equinovarus - Tapered finger - Thick lower lip vermilion - Triangular nasal tip - Upslanted palpebral fissure - U-Shaped upper lip vermilion - Vesicoureteral reflux - Vomiting - Wide nasal bridge - Widely-spaced maxillary central incisors - 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.


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

[User] Who is at risk for Oral Cavity and Oropharyngeal Cancer? ?

[Assistant] Different factors increase or decrease the risk of oral cavity and oropharyngeal cancer. Anything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor.    For information about risk factors and protective factors for oral cavity and oropharyngeal cancer, see the PDQ summary on Oral Cavity and Oropharyngeal Cancer Prevention.


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

[User] What are the symptoms of Floating-Harbor syndrome ?

[Assistant] What are the signs and symptoms of Floating-Harbor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Floating-Harbor syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the voice 90% Abnormality of thumb phalanx 90% Broad columella 90% Delayed skeletal maturation 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Neurological speech impairment 90% Short neck 90% Short philtrum 90% Short stature 90% Thin vermilion border 90% Wide mouth 90% Wide nasal bridge 90% Abnormality of immune system physiology 50% Abnormality of the clavicle 50% Abnormality of the soft palate 50% Brachydactyly syndrome 50% Camptodactyly of finger 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Constipation 50% Deeply set eye 50% Hypertrichosis 50% Intrauterine growth retardation 50% Joint dislocation 50% Joint hypermobility 50% Malabsorption 50% Triangular face 50% Underdeveloped nasal alae 50% Abnormality of the fingernails 7.5% Abnormality of the urethra 7.5% Attention deficit hyperactivity disorder 7.5% Hypoplasia of penis 7.5% Strabismus 7.5% Telecanthus 7.5% Trigonocephaly 7.5% Atria septal defect 5% Coarctation of aorta 5% Conductive hearing impairment 5% Congenital posterior urethral valve 5% Cryptorchidism 5% Hydronephrosis 5% Hypermetropia 5% Hypospadias 5% Inguinal hernia 5% Mesocardia 5% Nephrocalcinosis 5% Persistent left superior vena cava 5% Recurrent otitis media 5% Umbilical hernia 5% Varicocele 5% Autosomal dominant inheritance - Celiac disease - Cone-shaped epiphyses of the phalanges of the hand - Downturned corners of mouth - Expressive language delay - Hirsutism - Joint laxity - Long eyelashes - Low posterior hairline - Posteriorly rotated ears - Prominent nose - Smooth philtrum - 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 treatments for Dementia With Lewy Bodies ?

[Assistant] There is no cure for DLB. Treatments are aimed at controlling the cognitive, psychiatric, and motor symptoms of the disorder. Acetylcholinesterase inhibitors, such as donepezil and rivastigmine, are primarily used to treat the cognitive symptoms of DLB, but they may also be of some benefit in reducing the psychiatric and motor symptoms. Doctors tend to avoid prescribing antipsychotics for hallucinatory symptoms of DLB because of the risk that neuroleptic sensitivity could worsen the motor symptoms. Some individuals with DLB may benefit from the use of levodopa for their rigidity and loss of spontaneous movement.