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

[User] What are the symptoms of Pulmonary arterial hypertension ?

[Assistant] What are the signs and symptoms of Pulmonary arterial hypertension? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary arterial hypertension. 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) Pulmonary hypertension 100% Chest pain 90% Elevated right atrial pressure 90% Increased pulmonary vascular resistance 90% Respiratory insufficiency 90% Right ventricular failure 90% Right ventricular hypertrophy 90% Edema of the lower limbs 50% Hepatomegaly 50% Vertigo 50% Abnormal thrombosis 33% Dyspnea 33% Pulmonary arterial medial hypertrophy 33% Pulmonary artery vasoconstriction 33% Pulmonary aterial intimal fibrosis 33% Abnormality of the tricuspid valve 7.5% Acrocyanosis 7.5% Ascites 7.5% Congestive heart failure 7.5% Hemoptysis 7.5% Recurrent respiratory infections 7.5% Sudden cardiac death 7.5% Arterial intimal fibrosis - Autosomal dominant inheritance - Hypertension - Incomplete penetrance - Telangiectasia - 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 research (or clinical trials) is being done for Wilms Tumor and Other Childhood Kidney Tumors ?

[Assistant]
New types of treatment are being tested in clinical trials.
                    Information about clinical trials is available from the NCI website.     Targeted therapy     Targeted therapy is a treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Targeted therapy used to treat childhood kidney tumors may include the following:            -  Monoclonal antibodies: This targeted therapy uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Lorvotuzumab is being studied in the treatment of recurrent Wilms tumor.     -  Kinase inhibitors: This targeted therapy blocks signals that cancer cells need to grow and divide. LOXO-101 and entrectinib are kinase inhibitors being studied to treat congenital mesoblastic nephroma.     -  Histone methyltransferase inhibitors: This targeted therapy slows down the cancer cell's ability to grow and divide. Tazemetostat is being studied in the treatment of rhabdoid tumor of the kidney.

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

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


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[User] What are the treatments for Rasmussen's Encephalitis ?

[Assistant] Anti-epileptic drugs are usually not effective in controlling seizures. Recent studies have shown some success with treatments that suppress or modulate the immune system, in particular those that use corticosteroids, intravenous immunoglobulin, or tacrolimus. Surgery to control seizures may be performed in later stages of the disease when neurological deficits stabilize. Surgical procedures, such as functional hemispherectomy and hemispherotomy, may reduce the frequency of seizures and also improve behavior and cognitive abilities.


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[User] What are the treatments for hypermanganesemia with dystonia, polycythemia, and cirrhosis ?

[Assistant] These resources address the diagnosis or management of HMDPC:  - Gene Review: Gene Review: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease  - Genetic Testing Registry: Hypermanganesemia with dystonia, polycythemia and cirrhosis   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 the outlook for Alpers' Disease ?

[Assistant] The prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of life. Continuous, unrelenting seizures often lead to death. Liver failure and cardiorespiratory failure due to brain, spinal cord, and nerve involvement may also occur.


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

[User] What is (are) Immunotactoid or fibrillary glomerulopathy ?

[Assistant] Immunotactoid or fibrillary glomerulopathy is a term that includes two conditions: immunotactoid glomerulopathy and fibrillary glomerulonephritis, which are uncommon causes of glomerular disease. Most experts feel that fibrillary glomerulonephritis and immunotactoid glomerulopathy are separate disorders but they have many similarities and some experts group these disorders together. Fibrillary glomerulonephritis and immunotactoid glomerulopathy can be distinguished from each other by electron microscopy; the 'fibrils' that characterize fibrillary glomerulonephritis are smaller and  randomly oriented as opposed to the larger and organized fibrils of immunotactoid glomerulopathy which also have microtubule formations.  Both disorders probably result from deposits derived from immunoglobulins but in most cases the cause is idiopathic (unknown). The signs and symptoms are similar in both diseases and may include blood (hematuria) and protein (proteinuria) in the urine, kidney insufficiency and high blood pressure. Fibrillary glomeurlonephritis is much more common than immunotactoid glomerulopathy.  Both fibrillary glomerulonephritis and immunotactoid glomerulopathy have been associated with hepatitis C virus infection and with malignancy and autoimmune disease, but immunotactoid glomerulopathy patients have a greater predisposition to chronic lymphocytic leukemia and B cell lymphomas. All patients should be screened for these conditions. It is also important to rule out another disease known as amyloidosis. When the fibrils are stained with an acid dye known as "Congo red" the results are negative. In amyloidosis the results are positive because the dye is absorbed by the amyloids. Treatment is generally determined by the severity of the kidney problems.


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[User] What are the treatments for DOLK-congenital disorder of glycosylation ?

[Assistant] These resources address the diagnosis or management of DOLK-CDG:  - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview  - Genetic Testing Registry: Congenital disorder of glycosylation type 1M  - MedlinePlus Encyclopedia: Dilated Cardiomyopathy   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 DMD-associated dilated cardiomyopathy ?

[Assistant] DMD-associated dilated cardiomyopathy appears to be an uncommon condition, although its prevalence is unknown.


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

[User] What are the symptoms of Multiple system atrophy ?

[Assistant] What are the signs and symptoms of Multiple system atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple system atrophy. 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 5% Adult onset - Anhidrosis - Ataxia - Autosomal dominant inheritance - Autosomal recessive inheritance - Babinski sign - Bradykinesia - Dysarthria - Dysautonomia - Gaze-evoked nystagmus - Hyperreflexia - Hypohidrosis - Impotence - Iris atrophy - Neurodegeneration - Olivopontocerebellar atrophy - Orthostatic hypotension - Parkinsonism - Phenotypic variability - Postural instability - Progressive - Ptosis - Rigidity - Skeletal muscle atrophy - Sporadic - Tremor - Urinary incontinence - Urinary urgency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] Is neuroblastoma inherited ?

[Assistant] Most people with neuroblastoma have sporadic neuroblastoma, meaning the condition arose from somatic mutations in the body's cells and was not inherited.  About 1 to 2 percent of affected individuals have familial neuroblastoma. This form of the condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell increases the risk of developing the disorder. However, the inheritance is considered to have incomplete penetrance because not everyone who inherits the altered gene from a parent develops neuroblastoma. Having the altered gene predisposes an individual to develop neuroblastoma, but an additional somatic mutation is probably needed to cause the condition.


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[User] What to do for Glomerular Diseases ?

[Assistant]
- The kidneys filter waste and extra fluid from the blood.  - The filtering process takes place in the nephron, where microscopic blood vessel filters, called glomeruli, are attached to fluid-collecting tubules.  - A number of different disease processes can damage the glomeruli and thereby cause kidney failure. Glomerulonephritis and glomerulosclerosis are broad terms that include many forms of damage to the glomeruli.  - Some forms of kidney failure can be slowed down, but scarred glomeruli can never be repaired.  - Treatment for the early stages of kidney failure depends on the disease causing the damage.  - Early signs of kidney failure include blood or protein in the urine and swelling in the hands, feet, abdomen, or face. Kidney failure may be silent for many years.

The Nephrotic Syndrome

- The nephrotic syndrome is a condition marked by very high levels of protein in the urine; low levels of protein in the blood; swelling, especially around the eyes, feet, and hands; and high cholesterol.  - The nephrotic syndrome is a set of symptoms, not a disease in itself. It can occur with many diseases, so prevention relies on controlling the diseases that cause it.  - Treatment of the nephrotic syndrome focuses on identifying and treating the underlying cause, if possible, and reducing high cholesterol, blood pressure, and protein in the urine through diet, medication, or both.  - The nephrotic syndrome may go away once the underlying cause, if known, is treated. However, often a kidney disease is the underlying cause and cannot be cured. In these cases, the kidneys may gradually lose their ability to filter wastes and excess water from the blood. If kidney failure occurs, the patient will need to be on dialysis or have a kidney transplant.


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

[User] What are the symptoms of Dravet syndrome ?

[Assistant] What are the signs and symptoms of Dravet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dravet 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) Absence seizures - Ataxia - Autosomal dominant inheritance - Cerebral atrophy - Cortical visual impairment - Epileptic encephalopathy - Focal seizures with impairment of consciousness or awareness - Generalized myoclonic seizures - Hemiclonic seizures - Infantile onset - Mental deterioration - Motor delay - Postnatal microcephaly - Status epilepticus - 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) Juvenile Myelomonocytic Leukemia ?

[Assistant]
Key Points
                    - Juvenile myelomonocytic leukemia is a childhood disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow.    - Signs and symptoms of juvenile myelomonocytic leukemia include fever, weight loss, and feeling very tired.    - Certain factors affect prognosis (chance of recovery) and treatment options.

                    Juvenile myelomonocytic leukemia is a childhood disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow.
                    Juvenile myelomonocytic leukemia (JMML) is a rare childhood cancer that occurs more often in children younger than 2 years. Children who have neurofibromatosis type 1 and males have an increased risk of juvenile myelomonocytic leukemia.    In JMML, the body tells too many blood stem cells to become two types of white blood cells called myelocytes and monocytes. Some of these blood stem cells never become mature white blood cells. These immature white blood cells are called blasts. Over time, the myelocytes, monocytes, and blasts crowd out the red blood cells and platelets in the bone marrow. When this happens, infection, anemia, or easy bleeding may occur.


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

[User] What are the treatments for propionic acidemia ?

[Assistant] These resources address the diagnosis or management of propionic acidemia:  - Baby's First Test  - Gene Review: Gene Review: Propionic Acidemia  - Genetic Testing Registry: Propionic acidemia   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 treatments for Isovaleric acidemia ?

[Assistant] How might isovaleric acidemia be treated? There is currently no cure for isovaleric acidemia (IVA). Upon diagnosis, immediate treatment is typically necessary in order to prevent metabolic crises and complications that may follow. It is often recommended that affected individuals have a low-leucine / low-protein diet and use medical foods (such as special low-protein flours, pastas, and rice that are made especially for people with organic acid disorders) and leucine-free medical formula. A dietician with knowledge of IVA can help parents create a food plan that contains the right amount of protein, nutrients, and energy to keep the child healthy. Any diet changes should be under the guidance of a dietician. Medications that may be recommended include glycine and L-carnitine, which help rid the body of unwanted isovaleric acid and other harmful substances. No medication or supplement should be used without checking with a metabolic doctor. Children with symptoms of a metabolic crisis need medical treatment right away and may be given bicarbonate, glucose, and other medications by IV. With prompt and careful treatment, children with IVA have a good chance to live healthy lives with normal growth and development. However, some children, even when treated, may have repeated metabolic crises which can lead to life-long learning problems or mental retardation.


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[User] What is the outlook for Menkes Disease ?

[Assistant] Since newborn screening for this disorder is not available, and early detection is infrequent because the clinical signs of Menkes disease are subtle in the beginning, the disease is rarely treated early enough to make a significant difference. The prognosis for babies with Menkes disease is poor. Most children with Menkes disease die within the first decade of life.


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

[User] What are the symptoms of Orofaciodigital syndrome 5 ?

[Assistant] What are the signs and symptoms of Orofaciodigital syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 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) Median cleft lip 90% Postaxial hand polydactyly 90% Abnormality of the oral cavity 7.5% Brachydactyly syndrome 7.5% Epicanthus 7.5% Facial asymmetry 7.5% Finger syndactyly 7.5% Preaxial hand polydactyly 7.5% Aganglionic megacolon 5% Agenesis of corpus callosum 5% Bifid uvula 5% Cleft palate 5% Scoliosis 5% Autosomal recessive inheritance - Frontal bossing - Hypertelorism - Intellectual disability - Lobulated tongue - Postaxial foot polydactyly - 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) Weissenbacher-Zweymller syndrome ?

[Assistant] Weissenbacher-Zweymller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. This condition has features that are similar to those of another skeletal disorder, otospondylomegaepiphyseal dysplasia (OSMED).  Infants born with Weissenbacher-Zweymller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are shaped like dumbbells, and the bones of the spine (vertebrae) may also be abnormally shaped. High-tone hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small, upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate).  The skeletal features of Weissenbacher-Zweymller syndrome tend to diminish during childhood. Most adults with this condition are not unusually short, but do still retain the other features of Weissenbacher-Zweymller syndrome.


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[User] Is epidermal nevus inherited ?

[Assistant] This condition is generally not inherited but arises from mutations in the body's cells that occur after conception. This alteration is called a somatic mutation.  Occasionally, the somatic mutation occurs in a person's reproductive cells (sperm or eggs) and is passed to the next generation. An inherited FGFR3 gene mutation is found in every cell in the body, which results in skeletal abnormalities rather than epidermal nevus.


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[User] How to diagnose Creutzfeldt-Jakob disease ?

[Assistant] How is Creutzfeldt-Jakob disease diagnosed? There is currently no single diagnostic test for Creutzfeldt-Jakob disease (CJD). When a doctor suspects CJD, the first concern is to rule out treatable forms of dementia such as encephalitis (inflammation of the brain) or chronic meningitis. A neurological examination will be performed and the doctor may seek consultation with other physicians. Standard diagnostic tests will include a spinal tap to rule out more common causes of dementia and an electroencephalogram (EEG) to record the brains electrical pattern, which can be particularly valuable because it shows a specific type of abnormality in CJD. Computerized tomography of the brain can help rule out the possibility that the symptoms result from other problems such as stroke or a brain tumor. Magnetic resonance imaging (MRI) brain scans also can reveal characteristic patterns of brain degeneration that can help diagnose CJD. The only way to confirm a diagnosis of CJD is by brain biopsy or autopsy. In a brain biopsy, a neurosurgeon removes a small piece of tissue from the patients brain so that it can be examined by a neuropathologist. This procedure may be dangerous for the patient, and the operation does not always obtain tissue from the affected part of the brain. Because a correct diagnosis of CJD does not help the patient, a brain biopsy is discouraged unless it is needed to rule out a treatable disorder. In an autopsy, the whole brain is examined after death. Scientists are working to develop laboratory tests for CJD. One such test, developed at the National Institute of Neurological Disorders and Stroke (NINDS) at the National Institutes of Health (NIH), studies a person's cerebrospinal fluid to see of it contains a protein marker that indicates neuronal degeneration.This can help to diagnose CJD in people who already show the clinical symptoms of the disease. This test is much easier and safer than a brain biopsy. The false positive rate is about 5 to 10 percent. Scientists are working to develop this test for use in commercial laboratories. They are also working to develop other tests for this disorder.


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[User] What is (are) Lung Cancer ?

[Assistant] Lung cancer occurs when malignant tumors form in the tissue of the lung. The lungs are a pair of sponge-like organs. The right lung has three sections, called lobes, and is larger than the left lung, which has two lobes.


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[User] How to diagnose Gastrointestinal Carcinoid Tumors ?

[Assistant] Imaging studies and tests that examine the blood and urine are used to detect (find) and diagnose gastrointestinal carcinoid tumors. The following tests and procedures may be used:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken.     -   Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as hormones, released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. The blood sample is checked to see if it contains a hormone produced by carcinoid tumors. This test is used to help diagnose carcinoid syndrome.     -   Tumor marker test : A procedure in which a sample of blood, urine, or tissue is checked to measure the amounts of certain substances, such as chromogranin A, made by organs, tissues, or tumor cells in the body. Chromogranin A is a tumor marker. It has been linked to neuroendocrine tumors when found in increased levels in the body.     -  Twenty-four-hour urine test: A test in which urine is collected for 24 hours to measure the amounts of certain substances, such as 5-HIAA or serotonin (hormone). An unusual (higher or lower than normal) amount of a substance can be a sign of disease in the organ or tissue that makes it. This test is used to help diagnose carcinoid syndrome.    -  MIBG scan : A procedure used to find neuroendocrine tumors, such as carcinoid tumors. A very small amount of radioactive material called MIBG (metaiodobenzylguanidine) is injected into a vein and travels through the bloodstream. Carcinoid tumors take up the radioactive material and are detected by a device that measures radiation.    -   CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography.     -   MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging     -   PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells.    -   Endoscopic ultrasound (EUS): A procedure in which an endoscope is inserted into the body, usually through the mouth or rectum. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. A probe at the end of the endoscope is used to bounce high-energy sound waves (ultrasound) off internal tissues or organs, such as the stomach, small intestine, colon, or rectum, and make echoes. The echoes form a picture of body tissues called a sonogram. This procedure is also called endosonography.     -   Upper endoscopy : A procedure to look at organs and tissues inside the body to check for abnormal areas. An endoscope is inserted through the mouth and passed through the esophagus into the stomach. Sometimes the endoscope also is passed from the stomach into the small intestine. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of disease.     -   Colonoscopy : A procedure to look inside the rectum and colon for polyps, abnormal areas, or cancer. A colonoscope is inserted through the rectum into the colon. A colonoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove polyps or tissue samples, which are checked under a microscope for signs of cancer.    -   Capsule endoscopy : A procedure used to see all of the small intestine. The patient swallows a capsule that contains a tiny camera. As the capsule moves through the gastrointestinal tract, the camera takes pictures and sends them to a receiver worn on the outside of the body.     -   Biopsy : The removal of cells or tissues so they can be viewed under a microscope to check for signs of cancer. Tissue samples may be taken during endoscopy and colonoscopy.


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[User] What is the outlook for Kidney Dysplasia ?

[Assistant]
The long-term outlook for a child with kidney dysplasia in both kidneys is different from the long-term outlook for a child with one dysplastic kidney. A child with kidney dysplasia in both kidneys

- is more likely to develop CKD.  - needs close follow-up with a pediatric nephrologista doctor who specializes in caring for children with kidney disease. Children who live in areas that dont have a pediatric nephrologist available can see a nephrologist who cares for both children and adults.  - may eventually need dialysis or a kidney transplant.


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[User] What is (are) Synovial Chondromatosis ?

[Assistant] Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common.


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[User] What are the treatments for Diverticular Disease ?

[Assistant]
A health care provider may treat the symptoms of diverticulosis with a high-fiber diet or fiber supplements, medications, and possibly probiotics. Treatment for diverticular disease varies, depending on whether a person has diverticulitis or diverticular bleeding.

Diverticulosis

High-fiber diet. Studies have shown that a high-fiber diet can help prevent diverticular disease in people who already have diverticulosis.2 A health care provider may recommend a slow increase in dietary fiber to minimize gas and abdominal discomfort. For more information about fiber-rich foods, see Eating, Diet, and Nutrition.

Fiber supplements. A health care provider may recommend taking a fiber product such as methylcellulose (Citrucel) or psyllium (Metamucil) one to three times a day. These products are available as powders, pills, or wafers and provide 0.5 to 3.5 grams of fiber per dose. Fiber products should be taken with at least 8 ounces of water.

Medications. A number of studies suggest the medication mesalazine (Asacol), given either continuously or in cycles, may be effective at reducing abdominal pain and GI symptoms of diverticulosis. Research has also shown that combining mesalazine with the antibiotic rifaximin (Xifaxan) can be significantly more effective than using rifaximin alone to improve a persons symptoms and maintain periods of remission, which means being free of symptoms.4

Probiotics. Although more research is needed, probiotics may help treat the symptoms of diverticulosis, prevent the onset of diverticulitis, and reduce the chance of recurrent symptoms. Probiotics are live bacteria, like those normally found in the GI tract. Probiotics can be found in dietary supplementsin capsules, tablets, and powdersand in some foods, such as yogurt.

To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of dietary supplements and probiotics, with their health care provider. Read more at www.nccam.nih.gov/health/probiotics.

Tips for talking with health care providers are available at www.nccam.nih.gov/timetotalk.

Diverticular Bleeding

Diverticular bleeding is rare. Bleeding can be severe; however, it may stop by itself and not require treatment. A person who has bleeding from the rectumeven a small amountshould see a health care provider right away.

To treat the bleeding, a colonoscopy may be performed to identify the location of and stop the bleeding. A CT scan or angiogram also may be used to identify the site of the bleeding. A traditional angiogram is a special kind of x ray in which a thin, flexible tube called a catheter is threaded through a large artery, often from the groin, to the area of bleeding. Contrast medium is injected through the catheter so the artery shows up more clearly on the x ray. The procedure is performed in a hospital or an outpatient center by an x-ray technician, and the images are interpreted by a radiologist. Anesthesia is not needed, though a sedative may be given to lessen anxiety during the procedure.

If the bleeding does not stop, abdominal surgery with a colon resection may be necessary. In a colon resection, the surgeon removes the affected part of the colon and joins the remaining ends of the colon together; general anesthesia is used. A blood transfusion may be needed if the person has lost a significant amount of blood.

Diverticulitis

Diverticulitis with mild symptoms and no complications usually requires a person to rest, take oral antibiotics, and be on a liquid diet for a period of time. If symptoms ease after a few days, the health care provider will recommend gradually adding solid foods back into the diet.

Severe cases of diverticulitis with acute pain and complications will likely require a hospital stay. Most cases of severe diverticulitis are treated with intravenous (IV) antibiotics and a few days without food or drink to help the colon rest. If the period without food or drink is longer, the person may be given parenteral nutritiona method of providing an IV liquid food mixture through a special tube in the chest. The mixture contains proteins, carbohydrates, fats, vitamins, and minerals.


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[User] What is (are) Sarcoidosis ?

[Assistant] Sarcoidosis is a disease that leads to inflammation, usually in your lungs, skin, or lymph nodes. It starts as tiny, grain-like lumps, called granulomas. Sarcoidosis can affect any organ in your body.     No one is sure what causes sarcoidosis. It affects men and women of all ages and races. It occurs mostly in people ages 20 to 50, African Americans, especially women, and people of Northern European origin.    Many people have no symptoms. If you have symptoms, they may include       - Cough    - Shortness of breath    - Weight loss    - Night sweats    - Fatigue       Tests to diagnose sarcoidosis include chest x-rays, lung function tests, and a biopsy. Not everyone who has the disease needs treatment. If you do, prednisone, a type of steroid, is the main treatment.    NIH: National Heart, Lung, and Blood Institute


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[User] How many people are affected by autosomal recessive axonal neuropathy with neuromyotonia ?

[Assistant] Autosomal recessive axonal neuropathy with neuromyotonia is a rare form of inherited peripheral neuropathy. This group of conditions affects an estimated 1 in 2,500 people. The prevalence of autosomal recessive axonal neuropathy with neuromyotonia is unknown.


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[User] How to prevent Sudden Cardiac Arrest ?

[Assistant]
Ways to prevent death due to sudden cardiac arrest (SCA) differ depending on whether:

You've already had SCA

You've never had SCA but are at high risk for the condition

You've never had SCA and have no known risk factors for the condition

For People Who Have Survived Sudden Cardiac Arrest

If you've already had SCA, you're at high risk of having it again. Research shows that an implantable cardioverter defibrillator (ICD) reduces the chances of dying from a second SCA.An ICD is surgically placed under the skin in your chest or abdomen. The device has wires with electrodes on the ends that connect to your heart's chambers. The ICD monitors your heartbeat.

If the ICD detects a dangerous heart rhythm, it gives an electric shock to restore the heart's normal rhythm. Your doctor may give you medicine to limit irregular heartbeats that can trigger the ICD.

Implantable Cardioverter Defibrillator

An ICD isn't the same as a pacemaker. The devices are similar, but they have some differences. Pacemakers give off low-energy electrical pulses. They're often used to treat less dangerous heart rhythms, such as those that occur in the upper chambers of the heart. Most new ICDs work as both pacemakers and ICDs.

For People at High Risk for a First Sudden Cardiac Arrest

If you have severe coronary heart disease (CHD), you're at increased risk for SCA. This is especially true if you've recently had a heart attack.

Your doctor may prescribe a type of medicine called a beta blocker to help lower your risk for SCA. Your doctor also may discuss beginning statin treatment if you have an elevated risk for developing heart disease or having a stroke. Doctors usually prescribe statins for people who have:

Diabetes

Heart disease or had a prior stroke

High LDL cholesterol levels

Your doctor also may prescribe other medications to:

Decrease your chance of having a heart attack or dying suddenly.

Lower blood pressure.

Prevent blood clots, which can lead to heart attack or stroke.

Prevent or delay the need for a procedure or surgery, such as angioplasty or coronary artery bypass grafting.

Reduce your hearts workload and relieve coronary heart disease symptoms.

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. You should still follow a heart-healthy lifestyle, even if you take medicines to treat your coronary heart disease.

Other treatments for coronary heart diseasesuch as percutaneous coronary intervention, also known as coronary angioplasty, or coronary artery bypass graftingalso may lower your risk for SCA. Your doctor also may recommend an ICD if youre at high risk for SCA.

For People Who Have No Known Risk Factors for Sudden Cardiac Arrest

CHD seems to be the cause of most SCAs in adults. CHD also is a major risk factor for angina (chest pain or discomfort) and heart attack, and it contributes to other heart problems.

Following a healthy lifestyle can help you lower your risk for CHD, SCA, and other heart problems. A heart-healthy lifestyle includes:

Heart-healthy eating

Maintaining a healthy weight

Managing stress

Physical activity

Quitting smoking

Heart-Healthy Eating

Heart-healthy eating is an important part of a heart-healthy lifestyle. Your doctor may recommend heart-healthy eating, which should include:

Fat-free or low-fat dairy products, such as skim 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 5percent 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:

If you eat:

Try to eat no more than:

1,200 calories a day

8 grams of saturated fat a day

1,500 calories a day

10 grams of saturated fat a day

1,800 calories a day

12 grams of saturated fat a day

2,000 calories a day

13 grams of saturated fat a day

2,500 calories a day

17 grams of saturated fat a day

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

You should 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 2,300milligrams 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.

Limiting Alcohol

Try to limit alcohol intake. Too much alcohol can raise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain.

Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is:

12 ounces of beer

5 ounces of wine

1 ounces of liquor

Maintaining a Healthy Weight

Maintaining a healthy weight is important for overall health and can lower your risk for sudden cardiac arrest. 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 online BMI calculator or 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 25.0 and 29.9 is considered overweight

Of 30.0 or higher 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 type2 diabetes. This risk may be higher 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, visit Assessing Your Weight and Health Risk.

If youre overweight or obese, try to lose weight. A loss of just 3percent to 5percent of your current weight can lower your triglycerides, blood glucose, and the risk of developing type2 diabetes. Greater amounts of weight loss can improve blood pressure readings, lower LDL cholesterol, and increase HDL cholesterol.

Managing Stress

Managing and coping with stress. 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

Regular physical activity can lower your risk for coronary heart disease, sudden cardiac arrest, and other health problems. Everyone should try to participate in moderate-intensity aerobic exercise at least 2hours and 30minutes per week or vigorous aerobic exercise for 1hour and 15minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats faster and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10minutes at a time spread throughout the week.

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.

Read more about physical activity at:

Physical Activity and Your Heart

U.S. Department of Health and Human Services, 2008 Physical Activity Guidelines for Americans

Quitting Smoking

People who smoke are more likely to have a heart attack than are people who dont smoke. The risk of having a heart attack increases with the number of cigarettes smoked each day. Smoking also raises your risk for stroke and lung diseases, such as chronic obstructive pulmonary disease (COPD) and lung cancer.

Quitting smoking can greatly reduce your risk for heart and lung diseases. Ask your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke. If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking. Read more about how to quit smoking.


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[User] What are the treatments for adermatoglyphia ?

[Assistant] These resources address the diagnosis or management of adermatoglyphia:  - Genetic Testing Registry: Adermatoglyphia   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the treatments for adenine phosphoribosyltransferase deficiency ?

[Assistant] These resources address the diagnosis or management of adenine phosphoribosyltransferase deficiency:  - Boston Children's Hospital: Pediatric Kidney Stones in Children  - Gene Review: Gene Review: Adenine Phosphoribosyltransferase Deficiency  - Genetic Testing Registry: Adenine phosphoribosyltransferase deficiency   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] How to diagnose Langerhans Cell Histiocytosis ?

[Assistant] The following tests and procedures may be used to detect (find) and diagnose LCH or conditions caused by LCH:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken.    -   Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a person's mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam.     -   Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following:               - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells.      -  The portion of the blood sample made up of red blood cells.       - The number and type of white blood cells.      - The number of red blood cells and platelets.             -   Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the body by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease.    -   Liver function test : A blood test to measure the blood levels of certain substances released by the liver. A high or low level of these substances can be a sign of disease in the liver.    -   BRAF gene testing : A laboratory test in which a sample of blood or tissue is tested for mutations of the BRAF gene.    -   Urinalysis : A test to check the color of urine and its contents, such as sugar, protein, red blood cells, and white blood cells.     -   Water deprivation test : A test to check how much urine is made and whether it becomes concentrated when little or no water is given. This test is used to diagnose diabetes insipidus, which may be caused by LCH.    -   Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone. A pathologist views the bone marrow and bone under a microscope to look for signs of LCH.  The following tests may be done on the tissue that was removed:               -  Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer.       -  Flow cytometry : A laboratory test that measures the number of cells in a sample, how many cells are live, and the size of the cells. It also shows the shapes of the cells and whether there are tumor markers on the surface of the cells. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light.              -   Bone scan : A procedure to check if there are rapidly dividing cells in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones with cancer and is detected by a scanner.     -   X-ray : An x-ray of the organs and bones inside the body. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. Sometimes a skeletal survey is done. This is a procedure to x-ray all of the bones in the body.    -   CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography.    -   MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. A substance called gadolinium may be injected into a vein. The gadolinium collects around the LCH cells so that they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI).    -   PET scan (positron emission tomography scan): A procedure to find tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do.    -   Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later.    -   Bronchoscopy : A procedure to look inside the trachea and large airways in the lung for abnormal areas. A bronchoscope is inserted through the nose or mouth into the trachea and lungs. A bronchoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue samples, which are checked under a microscope for signs of cancer.    -   Endoscopy : A procedure to look at organs and tissues inside the body to check for abnormal areas in the gastrointestinal tract or lungs. An endoscope is inserted through an incision (cut) in the skin or opening in the body, such as the mouth. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of disease.    -   Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for LCH cells. To diagnose LCH, a biopsy of bone lesions, skin, lymph nodes, or the liver may be done.


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[User] Is McCune-Albright syndrome inherited ?

[Assistant] McCune-Albright syndrome is not inherited. Instead, it is caused by a random mutation in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of this disorder and its specific features depend on the number and location of cells that have the mutated GNAS gene.


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

[User] What is (are) primary carnitine deficiency ?

[Assistant] Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy.  Signs and symptoms of primary carnitine deficiency typically appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), a weakened and enlarged heart (cardiomyopathy), confusion, vomiting, muscle weakness, and low blood sugar (hypoglycemia). The severity of this condition varies among affected individuals. Some people with primary carnitine deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. All individuals with this disorder are at risk for heart failure, liver problems, coma, and sudden death.  Problems related to primary carnitine deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.


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

[Assistant] Liddle syndrome is a rare condition, although its prevalence is unknown. The condition has been found in populations worldwide.


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[User] How many people are affected by alkaptonuria ?

[Assistant] This condition is rare, affecting 1 in 250,000 to 1 million people worldwide. Alkaptonuria is more common in certain areas of Slovakia (where it has an incidence of about 1 in 19,000 people) and in the Dominican Republic.


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[User] What is (are) congenital fiber-type disproportion ?

[Assistant] Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement. People with this condition typically experience muscle weakness (myopathy), particularly in the muscles of the shoulders, upper arms, hips, and thighs. Weakness can also affect the muscles of the face and muscles that control eye movement (ophthalmoplegia), sometimes causing droopy eyelids (ptosis). Individuals with congenital fiber-type disproportion generally have a long face, a high arch in the roof of the mouth (high-arched palate), and crowded teeth. Affected individuals may have joint deformities (contractures) and an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Approximately 30 percent of people with this disorder experience mild to severe breathing problems related to weakness of muscles needed for breathing. Some people who experience these breathing problems require use of a machine to help regulate their breathing at night (noninvasive mechanical ventilation), and occasionally during the day as well. About 30 percent of affected individuals have difficulty swallowing due to muscle weakness in the throat. Rarely, people with this condition have a weakened and enlarged heart muscle (dilated cardiomyopathy).  The severity of congenital fiber-type disproportion varies widely. It is estimated that up to 25 percent of affected individuals experience severe muscle weakness at birth and die in infancy or childhood. Others have only mild muscle weakness that becomes apparent in adulthood. Most often, the signs and symptoms of this condition appear by age 1. The first signs of this condition are usually decreased muscle tone (hypotonia) and muscle weakness. In most cases, muscle weakness does not worsen over time, and in some instances it may improve. Although motor skills such as standing and walking may be delayed, many affected children eventually learn to walk. These individuals often have less stamina than their peers, but they remain active. Rarely, people with this condition have a progressive decline in muscle strength over time. These individuals may lose the ability to walk and require wheelchair assistance.


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[User] What is (are) Heart Block ?

[Assistant]
Heart block is a problem that occurs with the heart's electrical system. This system controls the rate and rhythm of heartbeats. ("Rate" refers to the number of times your heart beats per minute. "Rhythm" refers to the pattern of regular or irregular pulses produced as the heart beats.)

With each heartbeat, an electrical signal spreads across the heart from the upper to the lower chambers. As it travels, the signal causes the heart to contract and pump blood.

Heart block occurs if the electrical signal is slowed or disrupted as it moves through the heart.

Overview

Heart block is a type of arrhythmia (ah-RITH-me-ah). An arrhythmia is any problem with the rate or rhythm of the heartbeat.

Some people are born with heart block, while others develop it during their lifetimes. If you're born with the condition, it's called congenital (kon-JEN-ih-tal) heart block. If the condition develops after birth, it's called acquired heart block.

Doctors might detect congenital heart block before or after a baby is born. Certain diseases that may occur during pregnancy can cause heart block in a baby. Some congenital heart defects also can cause heart block. Congenital heart defects are problems with the heart's structure that are present at birth. Often, doctors don't know what causes these defects.

Acquired heart block is more common than congenital heart block. Damage to the heart muscle or its electrical system causes acquired heart block. Diseases, surgery, or medicines can cause this damage.

The three types of heart block are first degree, second degree, and third degree. First degree is the least severe, and third degree is the most severe. This is true for both congenital and acquired heart block.

Doctors use a test called an EKG (electrocardiogram) to help diagnose heart block. This test detects and records the heart's electrical activity. It maps the data on a graph for the doctor to review.

Outlook

The symptoms and severity of heart block depend on which type you have. First-degree heart block may not cause any severe symptoms.

Second-degree heart block may result in the heart skipping a beat or beats. This type of heart block also can make you feel dizzy or faint.

Third-degree heart block limits the heart's ability to pump blood to the rest of the body. This type of heart block may cause fatigue (tiredness), dizziness, and fainting. Third-degree heart block requires prompt treatment because it can be fatal.

A medical device called a pacemaker is used to treat third-degree heart block and some cases of second-degree heart block. This device uses electrical pulses to prompt the heart to beat at a normal rate. Pacemakers typically are not used to treat first-degree heart block.

All types of heart block may increase your risk for other arrhythmias, such as atrial fibrillation (A-tre-al fih-brih-LA-shun). Talk with your doctor to learn more about the signs and symptoms of arrhythmias.


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[User] What is (are) Toxocariasis ?

[Assistant] Toxocariasis is a parasitic condition caused by the larvae of two species of Toxocara roundworms: Toxocara canis (from dogs) and Toxocara cati (from cats). Many people who are infected with Toxocara never develop any signs or symptoms of the condition. In those who do become sick, symptoms may present as: Ocular Toxocariasis - when the larvae infect the eye and cause vision loss, eye inflammation, and/or damage to the retina. Visceral Toxocariasis - when the larvae infect various organs of the body (i.e. the liver or the central nervous system) and cause fever, fatigue, coughing, wheezing, and/or abdominal pain. Toxocariasis is generally spread through dirt that has been contaminated with animal feces that contain infectious Toxocara eggs. Young children and owners of dogs and cats have a higher chance of becoming infected. Visceral toxocariasis is treated with antiparasitic medications. Treatment of ocular toxocariasis is more difficult and usually consists of measures to prevent progressive damage to the eye.


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[User] what research (or clinical trials) is being done for Merkel Cell Carcinoma ?

[Assistant]
New types of treatment are being tested in clinical trials.

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

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


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[User] What are the treatments for Baylisascaris infection ?

[Assistant] How might Baylisascaris infection be treated? No drug has been found to be completely effective in treating Baylisascaris infections in humans. Albendazole is currently considered to be the drug of choice. Corticosteroids may also be given to reduce inflammation. In many cases, significant damage has already occurred by the time treatment has started. Early diagnosis and treatment provide the best chance of recovery.


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[User] What is (are) beta-mannosidosis ?

[Assistant] Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.  Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges between infancy and adolescence. Almost all individuals with beta-mannosidosis experience intellectual disability, and some have delayed motor development and seizures. Affected individuals may be extremely introverted, prone to depression, or have behavioral problems such as hyperactivity, impulsivity or aggression.  People with beta-mannosidosis may experience an increased risk of respiratory and ear infections, hearing loss, speech impairment, swallowing difficulties, poor muscle tone (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy). They may also exhibit distinctive facial features and clusters of enlarged blood vessels forming small, dark red spots on the skin (angiokeratomas).


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[User] What is (are) Alzheimer's Disease ?

[Assistant]
Alzheimer's disease (AD) is an age-related, non-reversible brain disorder that develops over a period of years. Initially, people experience memory loss and confusion, which may be mistaken for the kinds of memory changes that are sometimes associated with normal aging. However, the symptoms of AD gradually lead to behavior and personality changes, a decline in cognitive abilities such as decision-making and language skills, and problems recognizing family and friends. AD ultimately leads to a severe loss of mental function. These losses are related to the worsening breakdown of the connections between certain neurons in the brain and their eventual death. AD is one of a group of disorders called dementias that are characterized by cognitive and behavioral problems. It is the most common cause of dementia among people age 65 and older.

There are three major hallmarks in the brain that are associated with the disease processes of AD.

- Amyloid plaques, which are made up of fragments of a protein called beta-amyloid peptide mixed with a collection of additional proteins, remnants of neurons, and bits and pieces of other nerve cells. - Neurofibrillary tangles (NFTs), found inside neurons, are abnormal collections of a protein called tau. Normal tau is required for healthy neurons. However, in AD, tau clumps together. As a result, neurons fail to function normally and eventually die. - Loss of connections between neurons responsible for memory and learning. Neurons can't survive when they lose their connections to other neurons. As neurons die throughout the brain, the affected regions begin to atrophy, or shrink. By the final stage of AD, damage is widespread and brain tissue has shrunk significantly.


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[User] What is (are) Hermansky-Pudlak syndrome ?

[Assistant] Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and white or light-colored hair. People with this disorder have a higher than average risk of skin damage and skin cancers caused by long-term sun exposure. Oculocutaneous albinism reduces pigmentation of the colored part of the eye (iris) and the light-sensitive tissue at the back of the eye (retina). Reduced vision, rapid and involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia) are also common in oculocutaneous albinism. In Hermansky-Pudlak syndrome, these vision problems usually remain stable after early childhood.  People with Hermansky-Pudlak syndrome also have problems with blood clotting (coagulation) that lead to easy bruising and prolonged bleeding.  Some individuals with Hermansky-Pudlak syndrome develop breathing problems due to a lung disease called pulmonary fibrosis, which causes scar tissue to form in the lungs. The symptoms of pulmonary fibrosis usually appear during an individual's early thirties and rapidly worsen. Individuals with Hermansky-Pudlak syndrome who develop pulmonary fibrosis often do not live for more than a decade after they begin to experience breathing problems.  Other, less common features of Hermansky-Pudlak syndrome include inflammation of the large intestine (granulomatous colitis) and kidney failure.  There are nine different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. Types 1 and 4 are the most severe forms of the disorder. Types 1, 2, and 4 are the only types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have the mildest symptoms. Little is known about the signs, symptoms, and severity of types 7, 8, and 9.


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[User] What is the outlook for Acid Lipase Disease ?

[Assistant] Wolmans disease is usually fatal by age 1. The onset and course of cholesteryl ester storage disease varies, and individuals may live into adulthood.


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[User] How to diagnose National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?

[Assistant]
CJD is usually diagnosed based on signs and symptoms of the illness, how severe they are, and how quickly they become worse. However, doctors must study brain tissue from a biopsy or autopsy in order to make a definite diagnosis of CJD.

Other tests can suggest CJD. In 1996, researchers developed a test that helps doctors diagnose CJD in patients with symptoms. This test detects an abnormal protein in a sample of spinal fluid. When this protein is found, it helps make a diagnosis of CJD. It is much easier and safer to take a sample of spinal fluid than to do a brain biopsy. Unfortunately, this test cannot identify CJD in patients who do not have symptoms. The test cannot predict who may develop CJD in the future.

Researchers from many countries, including the United States, have reported success using MRI to diagnose CJD and vCJD in people with symptoms of the disease. MRI is a safe and painless tool that allows doctors to look at images of the brain and does not involve the collection of brain or spinal fluid samples.


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[User] Is hereditary multiple osteochondromas inherited ?

[Assistant] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.


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[User] How many people are affected by immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?

[Assistant] IPEX syndrome is a rare disorder; its prevalence is unknown.


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[User] What is (are) cri-du-chat syndrome ?

[Assistant] Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.


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[User] What are the symptoms of Passos-Bueno syndrome ?

[Assistant] What are the signs and symptoms of Passos-Bueno syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Passos-Bueno 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 macula 90% Encephalocele 90% Myopia 90% Retinal detachment 90% Skull defect 90% Abnormality of the vitreous humor 50% Hydrocephalus 50% Nystagmus 50% Visual impairment 50% Cataract 7.5% Depressed nasal bridge 7.5% Ectopia lentis 7.5% Epicanthus 7.5% Joint hypermobility 7.5% Lymphangioma 7.5% Malar flattening 7.5% Patent ductus arteriosus 7.5% Pyloric stenosis 7.5% Seizures 7.5% Situs inversus totalis 7.5% Strabismus 7.5% Vesicoureteral reflux 7.5% Mental deterioration 5% Ataxia - Autosomal recessive inheritance - Band keratopathy - Cerebellar atrophy - Cerebral atrophy - Congenital cataract - Macular hypoplasia - Occipital encephalocele - Phenotypic variability - Phthisis bulbi - Polymicrogyria - Severe Myopia - Ventriculomegaly - Visual loss - Vitreoretinal degeneration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for Batten Disease ?

[Assistant] As yet, no specific treatment is known that can halt or reverse the symptoms of Batten disease. However, seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help patients retain functioning as long as possible.


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[User] How many people are affected by 1q21.1 microdeletion ?

[Assistant] 1q21.1 microdeletion is a rare chromosomal change; only a few dozen individuals with this deletion have been reported in the medical literature.


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[User] What are the treatments for nonsyndromic aplasia cutis congenita ?

[Assistant] These resources address the diagnosis or management of nonsyndromic aplasia cutis congenita:  - Genetic Testing Registry: Aplasia cutis congenita   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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

[Assistant] The NINDS conducts a wide range of research on headache disorders. This research aims to discover ways to better diagnose, treat, and ultimately, prevent these disorders.


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[User] How to prevent Gum (Periodontal) Disease ?

[Assistant] Yes, you can prevent gum disease with proper dental hygiene and regular cleanings by your dentist or dental hygienist. Specifically, you should - brush your teeth twice a day (with a fluoride toothpaste).   - floss regularly to remove plaque from between teeth. Or use a device such as a special pick recommended by a dental professional.   - visit the dentist routinely for a check-up and professional cleaning.  - not smoke.  - eat a well-balanced diet. (For more information, see "Eating Well As You Get Older" at  http://nihseniorhealth.gov/eatingwellasyougetolder/toc.html) brush your teeth twice a day (with a fluoride toothpaste). floss regularly to remove plaque from between teeth. Or use a device such as a special pick recommended by a dental professional. visit the dentist routinely for a check-up and professional cleaning. not smoke. eat a well-balanced diet. (For more information, see "Eating Well As You Get Older" at  http://nihseniorhealth.gov/eatingwellasyougetolder/toc.html)


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[User] What is (are) Klippel-Feil syndrome ?

[Assistant] Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition.  In people with Klippel-Feil syndrome, the fused vertebrae can limit the range of movement of the neck and back as well as lead to chronic headaches and muscle pain in the neck and back that range in severity. People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. The shortened neck can cause a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Trauma to the spine, such as a fall or car accident, can aggravate problems in the fused area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome. Affected individuals may develop a painful joint disorder called osteoarthritis around the areas of fused bone or experience painful involuntary tensing of the neck muscles (cervical dystonia). In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; fusion of additional vertebrae below the neck may also occur.  People with Klippel-Feil syndrome may have a wide variety of other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, eye abnormalities, an opening in the roof of the mouth (cleft palate), genitourinary problems such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb length discrepancy), which can result in misalignment of the hips or knees. Additionally, the shoulder blades may be underdeveloped so that they sit abnormally high on the back, a condition called Sprengel deformity. Rarely, structural brain abnormalities or a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect) can occur in people with Klippel-Feil syndrome.  In some cases, Klippel-Feil syndrome occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder.


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[User] Is Adolescent idiopathic scoliosis inherited ?

[Assistant] Is adolescent idiopathic scoliosis inherited? Adolescent idiopathic scoliosis can be sporadic, which means it occurs in people without a family history of the condition, or it can cluster in families. The inheritance pattern of adolescent idiopathic scoliosis is unclear because many genetic and environmental factors appear to be involved. We do know, however, that having a close relative (such as a parent or sibling) with the condition increases a child's risk of developing it.


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[User] What are the genetic changes related to 3-hydroxyacyl-CoA dehydrogenase deficiency ?

[Assistant] Mutations in the HADH gene cause 3-hydroxyacyl-CoA dehydrogenase deficiency. The HADH gene provides instructions for making an enzyme called 3-hydroxyacyl-CoA dehydrogenase.  Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. The 3-hydroxyacyl-CoA dehydrogenase enzyme is required for a step that metabolizes groups of fats called medium-chain fatty acids and short-chain fatty acids.  Mutations in the HADH gene lead to a shortage of 3-hydroxyacyl-CoA dehydrogenase. Medium-chain and short-chain fatty acids cannot be metabolized properly without sufficient levels of this enzyme. As a result, these fatty acids are not converted to energy, which can lead to characteristic features of 3-hydroxyacyl-CoA dehydrogenase deficiency, such as lethargy and hypoglycemia. Medium-chain and short-chain fatty acids that are not broken down can build up in tissues and damage the liver, heart, and muscles, causing serious complications.  Conditions that disrupt the metabolism of fatty acids, including 3-hydroxyacyl-CoA dehydrogenase deficiency, are known as fatty acid oxidation disorders.


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[User] What are the treatments for Multiple familial trichoepithelioma ?

[Assistant] How might multiple familial trichoepithelioma be treated? Several therapies have been used to treat multiple trichoepitheliomas, with variable results.  A single trichoepithelioma may be treated with surgery.  Cryosurgery or laser surgery may be used to remove multiple trichoepitheliomas.  Imiquimod cream has also been used as a treatment for trichoepitheliomas, with some improvement in symptoms.  Other treatments have included dermabrasion, photodynamic therapy, and other medications.  However, in most cases, multiple trichoepitheliomas eventually regrow following treatment.


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[User] What is (are) Phenylketonuria ?

[Assistant] Phenylketonuria (PKU) is a genetic disorder in which the body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If the Phe level gets too high, it can damage the brain and cause severe intellectual disability. All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early.     The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas and cereals. Nutritional formulas provide the vitamins and minerals they can't get from their food.    Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important that they stay on the diet for the rest of their lives.    NIH: National Institute of Child Health and Human Development


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[User] What causes COPD ?

[Assistant] COPD is a disease that slowly worsens over time, especially if you continue to smoke. If you have COPD, you are more likely to have lung infections, which can be fatal. If the lungs are severely damaged, the heart may be affected. A person with COPD dies when the lungs and heart are unable to function and get oxygen to the body's organs and tissues, or when a complication, such as a severe infection, occurs. Treatment for COPD may help prevent complications, prolong life, and improve a person's quality of life.


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

[Assistant] The NINDS supports and conducts research on brain injuries such as PVL. Much of this research is aimed at finding ways to prevent and treat these disorders.


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[User] How many people are affected by spastic paraplegia type 3A ?

[Assistant] Spastic paraplegia type 3A belongs to a subgroup of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of 2 to 9 per 100,000 individuals. Spastic paraplegia type 3A accounts for 10 to 15 percent of all autosomal dominant hereditary spastic paraplegia cases.


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[User] What are the treatments for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?

[Assistant] These resources address the diagnosis or management of CARASIL:  - Gene Review: Gene Review: CARASIL  - Genetic Testing Registry: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What is (are) Tinea Infections ?

[Assistant] Tinea is the name of a group of diseases caused by a fungus. Types of tinea include ringworm, athlete's foot and jock itch. These infections are usually not serious, but they can be uncomfortable. You can get them by touching an infected person, from damp surfaces such as shower floors, or even from a pet.     Symptoms depend on the affected area of the body:       -  Ringworm is a red skin rash that forms a ring around normal-looking skin. A worm doesn't cause it.     -  Scalp ringworm causes itchy, red patches on your head. It can leave bald spots. It usually affects children.    -  Athlete's foot causes itching, burning and cracked skin between your toes.    -  Jock itch causes an itchy, burning rash in your groin area.       Over-the-counter creams and powders will get rid of many tinea infections, particularly athlete's foot and jock itch. Other cases require prescription medicine.


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[User] What are the symptoms of Johnston Aarons Schelley syndrome ?

[Assistant] What are the signs and symptoms of Johnston Aarons Schelley syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnston Aarons Schelley 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) Dry skin 90% Hyperkeratosis 90% Hypertonia 90% Limitation of joint mobility 90% Morphological abnormality of the central nervous system 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] Is leukocyte adhesion deficiency type 1 inherited ?

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


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[User] What are the symptoms of Fukuyama type muscular dystrophy ?

[Assistant] What are the signs and symptoms of Fukuyama type muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Fukuyama type muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Exaggerated startle response 5% Holoprosencephaly 5% Retinal dysplasia 5% Agenesis of corpus callosum - Areflexia - Atria septal defect - Autosomal recessive inheritance - Calf muscle hypertrophy - Cataract - Cerebellar cyst - Cerebellar hypoplasia - Congenital muscular dystrophy - Elevated serum creatine phosphokinase - Encephalocele - Flexion contracture - Hydrocephalus - Hypermetropia - Hypoplasia of the brainstem - Hypoplasia of the pyramidal tract - Infantile onset - Intellectual disability - Microphthalmia - Muscle weakness - Muscular hypotonia - Myocardial fibrosis - Myopia - Optic atrophy - Pachygyria - Polymicrogyria - Pulmonic stenosis - Respiratory insufficiency - Retinal detachment - Scoliosis - Seizures - Skeletal muscle atrophy - Spinal rigidity - Strabismus - Transposition of the great arteries - Type II lissencephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Hypoglycemia ?

[Assistant] Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose.    In most people, this raises blood sugar. If it doesn't, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include        - Hunger    - Shakiness    - Dizziness    - Confusion    - Difficulty speaking    - Feeling anxious or weak       In people with diabetes, hypoglycemia is often a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan.    You can also have low blood sugar without having diabetes. Causes include certain medicines or diseases, hormone or enzyme deficiencies, and tumors. Laboratory tests can help find the cause. The kind of treatment depends on why you have low blood sugar.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases


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[User] What is (are) Lung Cancer ?

[Assistant]
Key Points
                    - Lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung.    - Lung cancer is the leading cause of cancer death in the United States.    - Different factors increase or decrease the risk of lung cancer.

                    Lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung.
                    The lungs are a pair of cone-shaped breathing organs inside the chest. The lungs bring oxygen into the body when breathing in and send carbon dioxide out of the body when breathing out. Each lung has sections called lobes. The left lung has two lobes. The right lung, which is slightly larger, has three. A thin membrane called the pleura surrounds the lungs. Two tubes called bronchi lead from the trachea (windpipe) to the right and left lungs. The bronchi are sometimes involved in lung cancer. Small tubes called bronchioles and tiny air sacs called alveoli make up the inside of the lungs.      There are two types of lung cancer: small cell lung cancer and non-small cell lung cancer.    See the following PDQ summaries for more information about lung cancer:         -   Lung Cancer Prevention     -  Non-Small Cell Lung Cancer Treatment     -  Small Cell Lung Cancer Treatment

                    Lung cancer is the leading cause of cancer death in the United States.
                    Lung cancer is the third most common type of non-skin cancer in the United States. Lung cancer is the leading cause of cancer death in men and in women.