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

[User] What is (are) cutis laxa ?

[Assistant] Cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin.  The term "cutis laxa" is Latin for loose or lax skin, and this condition is characterized by skin that is sagging and not stretchy (inelastic). The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy appearance. Extremely wrinkled skin may be particularly noticeable on the neck and in the armpits and groin.  Cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines, and lungs. The disorder can cause heart problems and abnormal narrowing, bulging, or tearing of critical arteries. Affected individuals may have soft out-pouchings in the lower abdomen (inguinal hernia) or around the belly button (umbilical hernia). Pouches called diverticula can also develop in the walls of certain organs, such as the bladder and intestines. During childhood, some people with cutis laxa develop a lung disease called emphysema, which can make it difficult to breathe. Depending on which organs and tissues are affected, the signs and symptoms of cutis laxa can range from mild to life-threatening.  Researchers have described several different forms of cutis laxa. The forms are often distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. In general, the autosomal recessive forms of cutis laxa tend to be more severe than the autosomal dominant form. In addition to the features described above, some people with autosomal recessive cutis laxa have delayed development, intellectual disability, seizures, and problems with movement that can worsen over time.  The X-linked form of cutis laxa is often called occipital horn syndrome. This form of the disorder is considered a mild type of Menkes syndrome, which is a condition that affects copper levels in the body. In addition to sagging and inelastic skin, occipital horn syndrome is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose joints.


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[User] What are the genetic changes related to Senior-Lken syndrome ?

[Assistant] Senior-Lken syndrome can be caused by mutations in one of at least five genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells; they are involved in signaling pathways that transmit information between cells. Cilia are important for the structure and function of many types of cells, including certain cells in the kidneys. They are also necessary for the perception of sensory input (such as vision, hearing, and smell).  Mutations in the genes associated with Senior-Lken syndrome likely lead to problems with the structure and function of cilia. Defects in these cell structures probably disrupt important chemical signaling pathways within cells. Although researchers believe that defective cilia are responsible for the features of this disorder, it remains unclear how they lead specifically to nephronophthisis and Leber congenital amaurosis.  Some people with Senior-Lken syndrome do not have identified mutations in one of the five genes known to be associated with the condition. In these cases, the genetic cause of the disorder is unknown.


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

[Assistant] The prevalence of Weaver syndrome is unknown. About 50 affected individuals have been described in the medical literature.


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[User] What is (are) Pulmonary alveolar microlithiasis ?

[Assistant] Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasis may also develop calcium phosphate deposits in other organs and tissue of the body. Though the  course of the disease can be variable, many cases slowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.


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[User] What are the symptoms of Olmsted syndrome ?

[Assistant] What are the signs and symptoms of Olmsted syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Olmsted 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 fingernails 90% Hypohidrosis 90% Limitation of joint mobility 90% Palmoplantar keratoderma 90% Abnormality of bone mineral density 50% Carious teeth 50% Reduced number of teeth 50% Sensorineural hearing impairment 50% Skin ulcer 50% Alopecia 7.5% Melanoma 7.5% Neoplasm of the lung 7.5% Neoplasm of the skin 7.5% Osteolysis 7.5% Seizures 7.5% Alopecia universalis 5% Corneal opacity 5% Hyperhidrosis 5% Opacification of the corneal stroma 5% Sparse hair 5% Autosomal dominant inheritance - Flexion contracture - Nail dysplasia - Nail dystrophy - Parakeratosis - Pruritus - Subungual hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the symptoms of Isovaleric acidemia ?

[Assistant] What are the signs and symptoms of Isovaleric acidemia? Health problems related to isovaleric acidemia range from very mild to life-threatening. In severe cases, the features of isovaleric acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, seizures, and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including seizures, coma, and possibly death. A characteristic sign of isovaleric acidemia is a distinctive odor of sweaty feet during acute illness. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals. In other cases, the signs and symptoms of isovaleric acidemia appear during childhood and may come and go over time. Children with this condition may fail to gain weight and grow at the expected rate (failure to thrive) and often have delayed development. In these children, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), infections, or eating an increased amount of protein-rich foods. Some people with gene mutations that cause isovaleric acidemia are asymptomatic, which means they never experience any signs or symptoms of the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Isovaleric acidemia. 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) Aminoaciduria 90% Cognitive impairment 90% Seizures 50% Cerebellar hemorrhage 5% Autosomal recessive inheritance - Bone marrow hypocellularity - Coma - Dehydration - Hyperglycinuria - Ketoacidosis - Lethargy - Leukopenia - Metabolic acidosis - Pancytopenia - Thrombocytopenia - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Emphysema ?

[Assistant] Emphysema is a type of COPD involving damage to the air sacs (alveoli) in the lungs. As a result, your body does not get the oxygen it needs. Emphysema makes it hard to catch your breath. You may also have a chronic cough and have trouble breathing during exercise.    The most common cause is cigarette smoking. If you smoke, quitting can help prevent you from getting the disease. If you already have emphysema, not smoking might keep it from getting worse. Treatment is based on whether your symptoms are mild, moderate or severe. Treatments include inhalers, oxygen, medications and sometimes surgery to relieve symptoms and prevent complications.


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[User] What is (are) Limb dystonia ?

[Assistant] Limb dystonia is characterized by excessive pulling of the muscles of a limb, such as the hand or foot. The arm or leg might also be involved. Specific symptoms depend on the combinations of muscles involved and how hard each one is pulling. Mild forms may be expressed as stiffness or soreness of a limb; more moderate forms are characterized by unwanted movements or postures; and in severe forms, abnormal postures may become fixed. Common examples of limb dystonia include writer's cramp and musician's dystonia. In most cases, the cause of limb dystonia remains unknown. Treatment is challenging. Botulinum toxin injection, oral medications, and physical therapy may help some patients.


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[User] What is (are) Amyopathic dermatomyositis ?

[Assistant] Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typical skin findings without muscle weakness. Some of the skin changes that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair. While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included. Fatigue is reported in at least 50% of patients. Some cases have been associated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.


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[User] What are the symptoms of Grubben de Cock Borghgraef syndrome ?

[Assistant] What are the signs and symptoms of Grubben de Cock Borghgraef syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Grubben de Cock Borghgraef 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 eye movement 90% Blue sclerae 90% Cognitive impairment 90% Deviation of finger 90% Dry skin 90% Eczema 90% Muscular hypotonia 90% Round face 90% Seizures 90% Short neck 90% Short palm 90% Autosomal recessive inheritance - Delayed speech and language development - Intrauterine growth retardation - Microdontia - Partial agenesis of the corpus callosum - Postnatal growth retardation - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] How many people are affected by Dandy-Walker malformation ?

[Assistant] Dandy-Walker malformation is estimated to affect 1 in 10,000 to 30,000 newborns.


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[User] What are the symptoms of Freiberg's disease ?

[Assistant] What are the signs and symptoms of Freiberg's disease? Common signs and symptoms of Freiberg's disease include pain and stiffness in the front of the foot, which often leads to a limp. People with this condition may also experience swelling, limited range of motion, and tenderness of the affected foot. Some people describe the sensation of walking on something hard, like a stone or a marble. Symptoms are generally triggered by weight-bearing activities, including walking. Occasionally, people with Freiberg's disease have no obvious symptoms of the condition, with changes noted only on X-rays taken for other purposes. Whether these people will later develop symptoms is not known.


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[User] Who is at risk for Lung Cancer? ?

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

		                    Key Points
		                    - Screening tests have risks.    - The risks of lung cancer screening tests include the following:          - Finding lung cancer may not improve health or help you live longer.     - False-negative test results can occur.     - False-positive test results can occur.     - Chest x-rays and low-dose spiral CT scans expose the chest to radiation.     -  Talk to your doctor about your risk for lung cancer and your need for screening tests.

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

		                    The risks of lung cancer screening tests include the following:
		                    Finding lung cancer may not improve health or help you live longer.    Screening may not improve your health or help you live longer if you have lung cancer that has already spread to other places in your body.     When a screening test result leads to the diagnosis and treatment of a disease that may never have caused symptoms or become life-threatening, it is called overdiagnosis. It is not known if treatment of these cancers would help you live longer than if no treatment were given, and treatments for cancer may have serious side effects. Harms of treatment may happen more often in people who have medical problems caused by heavy or long-term smoking.       False-negative test results can occur.    Screening test results may appear to be normal even though lung cancer is present. A person who receives a false-negative test result (one that shows there is no cancer when there really is) may delay seeking medical care even if there are symptoms.       False-positive test results can occur.    Screening test results may appear to be abnormal even though no cancer is present. A false-positive test result (one that shows there is cancer when there really isn't) can cause anxiety and is usually followed by more tests (such as biopsy), which also have risks. A biopsy to diagnose lung cancer can cause part of the lung to collapse. Sometimes surgery is needed to reinflate the lung. Harms of diagnostic tests may happen more often in patients who have medical problems caused by heavy or long-term smoking.        Chest x-rays and low-dose spiral CT scans expose the chest to radiation.     Radiation exposure from chest x-rays and low-dose spiral CT scans may increase the risk of cancer. Younger people and people at low risk for lung cancer are more likely to develop lung cancer caused by radiation exposure. .        Talk to your doctor about your risk for lung cancer and your need for screening tests.    Talk to your doctor or other health care provider about your risk for lung cancer, whether a screening test is right for you, and about the benefits and harms of the screening test. You should take part in the decision about whether a screening test is right for you. (See the PDQ summary on Cancer Screening Overview for more information.)


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[User] What are the symptoms of Multiple pterygium syndrome Escobar type ?

[Assistant] What are the signs and symptoms of Multiple pterygium syndrome Escobar type? Symptoms of multiple pterygium syndrome, Escobar type vary but may include short stature, vertebral (spine) defects, joint contractures, and webbing of the neck, armpit, elbow, knee, between the legs, and of the fingers and toes. The joint contractures may interfere with walking, making walking more difficult. Other symptoms may include down-slanting eyes, skin fold over the inner corner of the eye, a pointed, receding chin, droopy eye lids, and cleft palate. Males with Escobar syndrome may have undescended testicles at birth, and females may have absent labia majora. People with Escobar syndrome may have in-curving of the little finger, joined fingers, and rocker-bottom feet. They may also have kyphoscoliosis and other spine defects, such as fusion of the spine. Abnormal ossicles (the three small bones in the ear) may lead to conductive hearing loss. Other skeletal anomalies include rib fusions, radial head and hip dislocations, talipes calcaneovalgus (the foot points inwards and down) or club foot, and missing or underdeveloped kneecap. The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome Escobar type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amniotic constriction ring 90% Finger syndactyly 90% Limitation of joint mobility 90% Pectus excavatum 90% Scoliosis 90% Symphalangism affecting the phalanges of the hand 90% Webbed neck 90% Abnormality of the foot 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Aplasia/Hypoplasia of the skin 50% Camptodactyly of finger 50% Epicanthus 50% Facial asymmetry 50% Hypertelorism 50% Intrauterine growth retardation 50% Long face 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Pointed chin 50% Popliteal pterygium 50% Ptosis 50% Respiratory insufficiency 50% Short stature 50% Telecanthus 50% Umbilical hernia 50% Vertebral segmentation defect 50% Abnormality of female external genitalia 7.5% Abnormality of the abdominal organs 7.5% Abnormality of the aortic valve 7.5% Abnormality of the ribs 7.5% Aortic dilatation 7.5% Aplasia/Hypoplasia of the lungs 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Dolichocephaly 7.5% Gait disturbance 7.5% Hypoplasia of penis 7.5% Long philtrum 7.5% Low posterior hairline 7.5% Scrotal hypoplasia 7.5% Skeletal muscle atrophy 7.5% Spina bifida occulta 7.5% Strabismus 7.5% Abnormality of the neck - Absence of labia majora - Antecubital pterygium - Anterior clefting of vertebral bodies - Arachnodactyly - Autosomal recessive inheritance - Axillary pterygia - Bilateral camptodactyly - Camptodactyly of toe - Congenital diaphragmatic hernia - Decreased fetal movement - Diaphragmatic eventration - Dislocated radial head - Downturned corners of mouth - Dysplastic patella - Exostosis of the external auditory canal - Fused cervical vertebrae - High palate - Hip dislocation - Hypoplastic nipples - Hypospadias - Inguinal hernia - Intercrural pterygium - Kyphosis - Long clavicles - Low-set ears - Narrow mouth - Neck pterygia - Neonatal respiratory distress - Patellar aplasia - Pulmonary hypoplasia - Rib fusion - Rocker bottom foot - Syndactyly - Talipes calcaneovalgus - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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

[Assistant] Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital hearing loss. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare.


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

[Assistant] Memory problems are typically one of the first signs of Alzheimers disease, though different people may have different initial symptoms. A decline in other aspects of thinking, such as finding the right words, vision/spatial issues, and impaired reasoning or judgment, may also signal the very early stages of Alzheimers disease.


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[User] What are the symptoms of Ovarian Germ Cell Tumors ?

[Assistant] Signs of ovarian germ cell tumor are swelling of the abdomen or vaginal bleeding after menopause. Ovarian germ cell tumors can be hard to diagnose (find) early. Often there are no symptoms in the early stages, but tumors may be found during regular gynecologic exams (checkups). Check with your doctor if you have either of the following:          - Swollen abdomen without weight gain in other parts of the body.     - Bleeding from the vagina after menopause (when you are no longer having menstrual periods).


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[User] What is (are) Temporomandibular ankylosis ?

[Assistant] Temporomandibular ankylosis is a condition that occurs when the temporomandibular joint (the joint that connects the jaw to the side of the head) becomes fused by bony or fibrous tissue. As a result, affected people may experience pain, speech impairment, and difficulty chewing and swallowing. It can interfere with nutrition, oral hygiene and the normal growth of the face and/or jaw. Although the condition can be diagnosed in people of all ages, it generally occurs during the first and second decades of life. Temporomandibular ankylosis is most commonly caused by trauma or infection; it may also be associated with certain conditions such as ankylosing spondylitis, rheumatoid arthritis, or psoriasis. The condition is typically treated surgically.


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[User] What are the treatments for Hashimoto thyroiditis ?

[Assistant] These resources address the diagnosis or management of Hashimoto thyroiditis:  - American Thyroid Association: Thyroid Function Tests  - Genetic Testing Registry: Hashimoto thyroiditis  - National Institute of Diabetes and Digestive and Kidney Diseases: Thyroid Function Tests   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 Hemolytic Uremic Syndrome in Children ?

[Assistant]
A health care provider diagnoses hemolytic uremic syndrome with

- a medical and family history  - a physical exam  - urine tests  - a blood test  - a stool test  - kidney biopsy

Medical and Family History

Taking a medical and family history is one of the first things a health care provider may do to help diagnose hemolytic uremic syndrome.

Physical Exam

A physical exam may help diagnose hemolytic uremic syndrome. During a physical exam, a health care provider most often

- examines a child's body  - taps on specific areas of the child's body

Urine Tests

A health care provider may order the following urine tests to help determine if a child has kidney damage from hemolytic uremic syndrome.

Dipstick test for albumin. A dipstick test performed on a urine sample can detect the presence of albumin in the urine, which could mean kidney damage. The child or caretaker collects a urine sample in a special container in a health care provider's office or a commercial facility. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the child's urine sample. Patches on the dipstick change color when albumin is present in the urine.

Urine albumin-to-creatinine ratio. A health care provider uses this measurement to estimate the amount of albumin passed into the urine over a 24-hour period. The child provides a urine sample during an appointment with the health care provider. Creatinine is a waste product that is filtered in the kidneys and passed in the urine. A high urine albumin-to-creatinine ratio indicates that the kidneys are leaking large amounts of albumin into the urine.

Blood Test

A blood test involves drawing blood at a health care provider's office or a commercial facility and sending the sample to a lab for analysis. A health care provider will test the blood sample to

- estimate how much blood the kidneys filter eachminute, called the estimated glomerular filtrationrate, or eGFR. The test results help the healthcare provider determine the amount of kidneydamage from hemolytic uremic syndrome.  - check red blood cell and platelet levels.  - check for liver and kidney function.  - assess protein levels in the blood.

Stool Test

A stool test is the analysis of a sample of stool. The health care provider will give the child's parent or caretaker a container for catching and storing the stool. The parent or caretaker returns the sample to the health care provider or a commercial facility that will send the sample to a lab for analysis. Stool tests can show the presence of E. coli O157:H7.

Kidney Biopsy

Biopsy is a procedure that involves taking a small piece of kidney tissue for examination with a microscope. A health care provider performs the biopsy in an outpatient center or a hospital. The health care provider will give the child light sedation and local anesthetic; however, in some cases, the child will require general anesthesia. A pathologista doctor who specializes in diagnosing diseasesexamines the tissue in a lab. The pathologist looks for signs of kidney disease and infection. The test can help diagnose hemolytic uremic syndrome.


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[User] What causes Hemifacial microsomia ?

[Assistant] What causes hemifacial microsomia? For most people with hemifacial microsomia, the cause is unknown. It is believed that something occurs in the early stages of development, such as a disturbance of the blood supply to the first and second branchial arches in the first 6 to 8 weeks of pregnancy. Studies have suggested multiple possible risk factors for hemifacial microsomia. Environmental risk factors include the use of medications during pregnancy such as Accutane, pseudoephedrine, aspirin, or ibuprofen. Other environmental factors include second trimester bleeding, maternal diabetes, being pregnant with multiples, or the use of assisted reproductive technology. A genetic cause is found in some families, such as a chromosome disorder or a genetic syndrome. Some possible explanations when the cause of hemifacial microsomia is unknown include a very small chromosome deletion or duplication that is not detected, a mutation in an unknown gene, or changes in multiple genes associated with development of the face. It is also possible that a combination of genetic changes and environmental risk factors could cause hemifacial microsomia.


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[User] What causes Chromosome 3p- syndrome ?

[Assistant] What causes chromosome 3p- syndrome? In most people with chromosome 3p- syndrome, the deletion occurs as a new mutation (called a de novo mutation) and is not inherited from a parent. De novo mutations are due to a random error that occurs during the formation of egg or sperm cells, or shortly after conception. In a few cases, the deletion is inherited from a parent.


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[User] What are the treatments for primary myelofibrosis ?

[Assistant] These resources address the diagnosis or management of primary myelofibrosis:  - Genetic Testing Registry: Myelofibrosis  - Merck Manual Professional Version: Primary Myelofibrosis  - Myeloproliferative Neoplasm (MPN) Research Foundation: Primary Myelofibrosis (PMF)   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) Greig cephalopolysyndactyly syndrome ?

[Assistant] Greig cephalopolysyndactyly syndrome (GCPS) is a congenital disorder that affects development of the limbs, head, and face. Findings might include an extra finger or toe (polydactyly), fusion of the skin between the fingers or toes (syndactyly), widely spaced eyes (ocular hypertelorism), and an abnormally large head size (macrocephaly).The features of this syndrome are highly variable, ranging from polydactyly and syndactyly of the upper and/or lower limbs to seizure, hydrocephalus , and intellectual disability. Progression of GCPS is dependent on severity. Greig cephalopolysyndactyly syndrome is caused by mutations in the GLI3 gene. This condition is inherited in an autosomal dominant pattern. Treatment is symptomatic.


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[User] What are the treatments for Heart Attack ?

[Assistant] There are many medicines that are used to treat a heart attack. - Clot-busters or thrombolytic drugs dissolve blood clots that are blocking blood flow to the heart.  - Beta blockers decrease the workload on your heart by slowing your heart rate.  - Angiotensin-converting enzyme (ACE) inhibitors lower your blood pressure and reduce the strain on your heart.  - Nitrates, such as nitroglycerin  relax blood vessels and relieve chest pain.  - Anticoagulants thin the blood and prevent clots from forming in your arteries.  - Antiplatelet medications, such as aspirin and clopidogrel, stop platelets from clumping together to form clots. These medications are given to people who have had a heart attack, have angina, or have had angioplasty. Clot-busters or thrombolytic drugs dissolve blood clots that are blocking blood flow to the heart. Beta blockers decrease the workload on your heart by slowing your heart rate. Angiotensin-converting enzyme (ACE) inhibitors lower your blood pressure and reduce the strain on your heart. Nitrates, such as nitroglycerin  relax blood vessels and relieve chest pain. Anticoagulants thin the blood and prevent clots from forming in your arteries. Antiplatelet medications, such as aspirin and clopidogrel, stop platelets from clumping together to form clots. These medications are given to people who have had a heart attack, have angina, or have had angioplasty. Doctors may also prescribe medicines to relieve pain and anxiety, or to treat irregular heart rhythms which often occur during a heart attack.


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[User] How many people are affected by Shwachman-Diamond syndrome ?

[Assistant] Researchers are not sure how common Shwachman-Diamond syndrome is. Several hundred cases have been reported in scientific studies.


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[User] What causes What I need to know about Hirschsprung Disease ?

[Assistant] Before birth, a childs nerve cells normally grow along the intestines in the direction of the anus. With HD, the nerve cells stop growing too soon. Why the nerve cells stop growing is unclear. Some HD is inherited, meaning it is passed from parent to child through genes. HD is not caused by anything a mother did while pregnant.


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[User] What are the treatments for Tardive Dyskinesia ?

[Assistant] Treatment is highly individualized. The first step is generally to stop or minimize the use of the neuroleptic drug, but this can be done only under close supervision of the physician.. However, for patients with a severe underlying condition this may not be a feasible option. Replacing the neuroleptic drug with substitute drugs may help some individuals. The only approved drug treatment for tardive dyskenesia is tetrabenazine, which is usually effective but can have side effects that need to be discussed prior to starting therapy. Other drugs such as benzodiazepines, clozapine, or botulinum toxin injections also may be tried.


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[User] Is 46,XX testicular disorder of sex development inherited ?

[Assistant] SRY-positive 46,XX testicular disorder of sex development is almost never inherited. This condition results from the translocation of a Y chromosome segment containing the SRY gene during the formation of sperm (spermatogenesis). Affected people typically have no history of the disorder in their family and cannot pass on the disorder because they are infertile.  In rare cases, the SRY gene may be misplaced onto a chromosome other than the X chromosome. This translocation may be carried by an unaffected father and passed on to a child with two X chromosomes, resulting in 46,XX testicular disorder of sex development. In another very rare situation, a man may carry the SRY gene on both the X and Y chromosome; a child who inherits his X chromosome will develop male sex characteristics despite having no Y chromosome.  The inheritance pattern of SRY-negative 46,XX testicular disorder of sex development is unknown. A few families with unaffected parents have had more than one child with the condition, suggesting the possibility of autosomal recessive inheritance. Autosomal recessive means both copies of a 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 Ulcerative Colitis ?

[Assistant]
The most common signs and symptoms of ulcerative colitis are diarrhea with blood or pus and abdominal discomfort. Other signs and symptoms include

- an urgent need to have a bowel movement  - feeling tired  - nausea or loss of appetite  - weight loss  - fever  - anemiaa condition in which the body has fewer red blood cells than normal

Less common symptoms include

- joint pain or soreness  - eye irritation  - certain rashes

The symptoms a person experiences can vary depending on the severity of the inflammation and where it occurs in the intestine. When symptoms first appear,

- most people with ulcerative colitis have mild to moderate symptoms  - about 10 percent of people can have severe symptoms, such as frequent, bloody bowel movements; fevers; and severe abdominal cramping1


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[User] Do you have information about Teen Violence

[Assistant] Summary : Teen violence refers to harmful behaviors that can start early and continue into young adulthood. The young person can be a victim, an offender, or a witness to the violence.    Violent acts can include       - Bullying    - Fighting, including punching, kicking, slapping, or hitting    - Use of weapons such as guns or knives       Some violent acts can cause more emotional harm than physical harm. Others can lead to serious injury or even death.    An important risk factor for violence in teens is the behavior of their friends and classmates. You should know who your kids hang out with and encourage healthy behavior and relationships.    Centers for Disease Control and Prevention


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[User] What is (are) Usher syndrome, type 1E ?

[Assistant] Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III.  The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.


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[User] What is (are) Hypersensitivity Pneumonitis ?

[Assistant]
Hypersensitivity pneumonitis (noo-mo-NI-tis), or HP, is a disease in which the lungs become inflamed from breathing in foreign substances, such as molds, dusts, and chemicals. These substances also are known as antigens (AN-tih-jens).

People are exposed to antigens at home, while at work, and in other settings. However, most people who breathe in these substances don't develop HP.

Overview

To understand HP, it helps to understand how the lungs work. When you breathe, air passes through your nose and mouth into your windpipe. The air then travels to your lungs' air sacs. These sacs are called alveoli (al-VEE-uhl-eye).

Small blood vessels called capillaries run through the walls of the air sacs. When air reaches the air sacs, the oxygen in the air passes through the air sac walls into the blood in the capillaries. The capillaries connect to a network of arteries and veins that move blood through your body.

In HP, the air sacs become inflamed and may fill with fluid. This makes it harder for oxygen to pass through the air sacs and into the bloodstream.

The two main types of HP are acute (short-term) and chronic (ongoing). Both types can develop as a result of repeatedly breathing in an antigen.

Over time, your lungs can become sensitive to that antigen. If this happens, they'll become inflamed, which can lead to symptoms and may even cause long-term lung damage.

With acute HP, symptoms usually occur within 29 hours of exposure to an antigen you're sensitive to. Acute HP can cause chills, body aches, coughing, and chest tightness. After hours or days of no contact with the antigen, symptoms usually go away.

If acute HP isn't found and treated early, chronic HP may develop. Symptoms of chronic HP occur slowly, over months. Chronic HP can cause a worsening cough, shortness of breath with physical activity, fatigue (tiredness), and weight loss. Severe HP may cause clubbing (a widening and rounding of the tips of the fingers or toes).

With chronic HP, symptoms may continue and/or worsen, even after avoiding the antigen. Sometimes, chronic HP can cause long-term lung damage, such as pulmonary fibrosis (PULL-mun-ary fi-BRO-sis). This is a condition in which tissue deep in your lungs becomes scarred over time.

Outlook

Avoiding or reducing your contact with antigens can help prevent and treat HP. For example, cleaning heating and ventilation filters can help reduce your contact with mold. Wetting compost prior to handling it can reduce contact with harmful dust.

If HP is caught early, avoiding the antigen that caused it may be the only treatment you need. If you have chronic HP, your doctor may prescribe medicines to reduce lung inflammation.

Researchers continue to study why some people develop HP after being exposed to antigens, while others don't. They're also looking for better ways to quickly pinpoint which antigens are causing HP in people who are believed to have the disease.


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[User] What are the symptoms of Split hand/foot malformation X-linked ?

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


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[User] What causes McCune Albright syndrome ?

[Assistant] What causes McCune Albright syndrome? McCune Albright syndrome (MAS) is caused by a change (mutation) in the GNAS gene. This gene provides instructions for making part of a protein that ultimately influences many cell functions by regulating hormone activity. GNAS gene mutations that cause MAS result in a protein that causes the enzyme adenylate cyclase to be constantly turned on. This, in turn, leads to over-production of several hormones, resulting in the signs and symptoms of MAS.


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[User] What is (are) Meesmann corneal dystrophy ?

[Assistant] Meesmann corneal dystrophy is a rare genetic condition affecting the epithelial membrane of the cornea. A slit-lamp examination of the cornea shows diffuse clusters of tiny round cysts in the epithelial membrane.  Over time these cysts can rupture and cause erosions. The erosions may result in light sensitivity, redness, and pain. Vision remains good in most, but not all, cases. Meesmann corneal dystrophy can be caused by mutations in the KRT3 or KRT12 gene. It is inherited in an autosomal dominant fashion.


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[User] Is Norum disease inherited ?

[Assistant] How is Norum disease inherited? Norum disease is transmitted as an autosomal recessive trait, 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. Sporadic cases have also been reported.


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[User] How many people are affected by multiple system atrophy ?

[Assistant] Multiple system atrophy has a prevalence of about 2 to 5 per 100,000 people.


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[User] Who is at risk for Oropharyngeal Cancer? ?

[Assistant] Smoking or being infected with human papillomavirus can increase the risk of oropharyngeal cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk.   The most common risk factors for oropharyngeal cancer include the following:         - A history of smoking cigarettes for more than 10 pack years and other tobacco use.    - Personal history of head and neck cancer.    - Heavy alcohol use.    - Being infected with human papillomavirus (HPV), especially HPV type 16. The number of cases of oropharyngeal cancers linked to HPV infection is increasing.    - Chewing betel quid, a stimulant commonly used in parts of Asia.


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[User] What is (are) 47 XXX syndrome ?

[Assistant] 47 XXX syndrome, also called trisomy X or triple X syndrome, is characterized by the presence of an additional (third) X chromosome in each of a female's cells (which normally have two X chromosomes). An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. 47 XXX syndrome is usually caused by a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. Treatment typically focuses on specific symptoms, if present. Some females with 47 XXX syndrome have an extra X chromosome in only some of their cells; this is called 46,XX/47,XXX mosaicism.


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[User] What are the treatments for Peyronie's Disease ?

[Assistant]
A urologist may treat Peyronies disease with nonsurgical treatments or surgery.

The goal of treatment is to reduce pain and restore and maintain the ability to have intercourse. Men with small plaques, minimal penile curvature, no pain, and satisfactory sexual function may not need treatment until symptoms get worse. Peyronies disease often resolves on its own without treatment.

A urologist may recommend changes in a mans lifestyle to reduce the risk of ED associated with Peyronies disease.

Nonsurgical Treatments

Nonsurgical treatments include medications and medical therapies.

Medications. A urologist may prescribe medications aimed at decreasing a mans penile curvature, plaque size, and inflammation. A man may take prescribed medications to treat Peyronies disease orallyby mouthor a urologist may inject medications directly into the plaque. Verapamil is one type of topical medication that a man may apply to the skin over the plaque.

- Oral medications. Oral medications may include      - vitamin E    - potassium para-aminobenzoate (Potaba)    - tamoxifen    - colchicine    - acetyl-L-carnitine    - pentoxifylline    - Injections. Medications injected directly into plaques may include      - verapamil    - interferon alpha 2b    - steroids    - collagenase (Xiaflex)

To date, collagenase is the first and only medication specifically approved for Peyronies disease.

Medical therapies. A urologist may use medical therapies to break up scar tissue and decrease plaque size and curvature. Therapies to break up scar tissue may include

- high-intensity, focused ultrasound directed at the plaque  - radiation therapyhigh-energy rays, such as x rays, aimed at the plaque  - shockwave therapyfocused, low-intensity electroshock waves directed at the plaque

A urologist may use iontophoresispainless, low-level electric current that delivers medications through the skin over the plaqueto decrease plaque size and curvature.

A urologist may use mechanical traction and vacuum devices aimed at stretching or bending the penis to reduce curvature.

Surgery

A urologist may recommend surgery to remove plaque or help straighten the penis during an erection. Medical experts recommend surgery for long-term cases when

- symptoms have not improved  - erections, intercourse, or both are painful  - the curve or bend in the penis does not allow the man to have sexual intercourse

Some men may develop complications after surgery, and sometimes surgery does not correct the effects of Peyronies diseasesuch as shortening of the penis. Some surgical methods can cause shortening of the penis. Medical experts suggest waiting 1 year or more from the onset of symptoms before having surgery because the course of Peyronies disease is different in each man.

A urologist may recommend the following surgeries:

- grafting. A urologist will cut or remove the plaque and attach a patch of skin, a vein, or material made from animal organs in its place. This procedure may straighten the penis and restore some lost length from Peyronies disease. However, some men may experience numbness of the penis and ED after the procedure.  - plication. A urologist will remove or pinch a piece of the tunica albuginea from the side of the penis opposite the plaque, which helps to straighten the penis. This procedure is less likely to cause numbness or ED. Plication cannot restore length or girth of the penis and may cause shortening of the penis.  - device implantation. A urologist implants a device into the penis that can cause an erection and help straighten it during an erection. Penile implants may be considered if a man has both Peyronies disease and ED. In some cases, an implant alone will straighten the penis adequately. If the implant alone does not straighten the penis, a urologist may combine implantation with one of the other two surgeries. Once a man has an implant, he must use the device to have an erection.

A urologist performs these surgeries in a hospital.

Lifestyle Changes

A man can make healthy lifestyle changes to reduce the chance of ED associated with Peyronies disease by

- quitting smoking  - reducing alcohol consumption  - exercising regularly  - avoiding illegal drugs

More information is provided in the NIDDK health topic, Erectile Dysfunction.


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[User] What is (are) Cluttering ?

[Assistant] Cluttering is a disorder that affects the way a person speaks. It is characterized by a rapid speaking rate and inability to maintain normally expected sound, syllable, phrase, and pausing patterns while speaking. Other symptoms may include stuttering; language or phonological errors (problems organizing sounds); and attention deficits. The disorder seems to result from disorganized speech planning, talking too fast or in spurts, or simply being unsure of what one wants to say. Therapy generally focuses on the symptoms present in each individual and may include slowing the rate of speech and clearly producing speech sounds (articulating). Articulation and language problems are often reduced if the affected individual can achieve a slower rate of speech.


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[User] What are the symptoms of Hyperglycerolemia ?

[Assistant] What are the signs and symptoms of Hyperglycerolemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperglycerolemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Cognitive impairment 90% EMG abnormality 90% Muscular hypotonia 90% Myopathy 90% Neurological speech impairment 90% Primary adrenal insufficiency 90% Short stature 90% Cryptorchidism 50% EEG abnormality 50% Hyperlordosis 50% Reduced bone mineral density 50% Scoliosis 50% Seizures 50% Abnormal facial shape 7.5% Adrenal insufficiency - Adrenocortical hypoplasia - Coma - Downturned corners of mouth - Episodic vomiting - Frontal bossing - Hypertelorism - Hypertriglyceridemia - Hypoglycemia - Intellectual disability - Ketoacidosis - Lethargy - Low-set ears - Metabolic acidosis - Muscular dystrophy - Osteoporosis - Pathologic fracture - Small for gestational age - Strabismus - X-linked dominant inheritance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Hemifacial myohyperplasia ?

[Assistant] Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape.  Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side . Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities.


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[User] What is (are) Rocky Mountain Spotted Fever (RMSF) ?

[Assistant]
More detailed information on the diagnosis, management, and treatment of tickborne rickettsial diseases is available in Diagnosis and Management of Tickborne Rickettsial Diseases: Rocky Mountain Spotted Fever, Ehrlichioses, and Anaplasmosis – United States.
*Case definitions have been updated since publication
How to Contact the Rickettsial Zoonoses Branch at CDC

The general public and healthcare providers should first call 1-800-CDC-INFO (1-800-232-4636) for questions regarding RMSF and other rickettsial diseases. If a consultation with a CDC scientist specializing in rickettsial diseases is advised, your call will be appropriately forwarded.
Case Definitions

As of January 1, 2010, cases of RMSF are reported under a new category called Spotted Fever Rickettsiosis (including Rocky Mountain spotted fever).

Case Report Forms

For confirmed and probable cases of RMSF that have been identified and reported through the National Notifiable Disease Surveillance System, states are also encouraged to submit additional information using CDC Case Report Forms (CRFs). These forms collect additional important information that routine electronic reporting does not, such as information on how the diagnosis was made, and whether the patient was hospitalized or died. If a different state-specific form is already used to collect this information, this information may be submitted to CDC in lieu of CRFs.

How to Submit Specimens to CDC for RMSF Testing

Private citizens may not directly submit specimens to CDC for testing. If you feel that diagnostic testing is necessary, consult your healthcare provider or state health department.
State Health Departments

Specimens may be submitted to CDC for testing for rickettsial diseases, including RMSF. To coordinate specimen submission, please call 404 639 1075 during business hours (8:00 - 4:30 ET).
U.S. Healthcare Providers

U.S. healthcare providers should not submit specimens for testing directly to CDC. CDC policy requires that specimens for testing be submitted through or with the approval of the state health department. Please contact your state health department, who will assist you with specimen submission and reporting of an infected patient. For general questions about RMSF, please call 1-800-CDC-INFO (1-800-232-4636). If you have questions about a suspect RMSF case, please first consult your state health department. Healthcare providers requiring an epidemiologic consultation on rickettsial diseases may also call 404-639-1075 during business hours (8:00 - 4:30 ET). Or 770-488-7100 after hours.
Non-U.S. Healthcare Providers

Non-U.S. healthcare providers should consult CDC prior to submitting specimens for testing. For general questions about RMSF, please call 1-800-CDC-INFO (1-800-232-4636). If you would like to discuss a suspect rickettsial case with CDC, please call 404-639-1075 during business hours (8:00 - 4:30 ET), or 770-488-7100 after hours.


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[User] What are the treatments for Prescription and Illicit Drug Abuse ?

[Assistant] Although under federal law, marijuana is illegal to use under any circumstance, in some states doctors are allowed to prescribe it for medical use. However, solid data on marijuanas health benefits is lacking, and for smoked marijuana many health experts have concerns about the potential negative effects on the lungs and respiratory system. The U.S. Food and Drug Administration has not approved smoked marijuana to treat any disease. They have approved two medications that are chemically similar to marijuana to treat wasting disease (extreme weight loss) in people with AIDS and to treat nausea and vomiting associated with cancer treatment.


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[User] What are the genetic changes related to familial paroxysmal nonkinesigenic dyskinesia ?

[Assistant] Mutations in the PNKD gene cause familial paroxysmal nonkinesigenic dyskinesia. The function of the protein produced from the PNKD gene is unknown; however, it is similar to a protein that helps break down a chemical called methylglyoxal. Methylglyoxal is found in alcoholic beverages, coffee, tea, and cola. Research has demonstrated that this chemical has a toxic effect on nerve cells (neurons). It remains unclear if the PNKD gene is related to the breakdown of methlglyoxal. How mutations in the PNKD gene lead to the signs and symptoms of familial paroxysmal nonkinesigenic dyskinesia is also unknown.


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[User] What are the treatments for VACTERL association ?

[Assistant] These resources address the diagnosis or management of VACTERL association:  - MedlinePlus Encyclopedia: Tracheoesophageal Fistula and Esophageal Atresia Repair   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] Do you have information about Electromagnetic Fields

[Assistant] Summary : Electric and magnetic fields (EMFs) are areas of energy that surround electrical devices. Everyday sources of EMFs include       - Power lines    - Electrical wiring    - Microwave ovens    - Computers    - Cell phones       Some people worry about EMF exposure and cancer. Some studies have found a link between EMF exposure and a higher risk of childhood leukemia, but other studies have not. Other studies have not found proof that EMF exposure causes other childhood cancers. Studies in adults did not prove that EMF exposure causes cancer.    Some people worry that wireless and cellular phones cause cancer. They give off radio-frequency energy (RF), a form of electromagnetic radiation. Scientists need to do more research on this before they can say for sure.    NIH: National Institute of Environmental Health Sciences


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[User] What are the symptoms of Anemia due to Adenosine triphosphatase deficiency ?

[Assistant] What are the signs and symptoms of Anemia due to Adenosine triphosphatase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia due to Adenosine triphosphatase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nonspherocytic hemolytic anemia 5% Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Friedreich ataxia ?

[Assistant] Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy that enlarges and weakens the heart muscle. Some affected individuals develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis).  Most people with Friedreich ataxia begin to experience the signs and symptoms of the disorder around puberty. Poor balance when walking and slurred speech are often the first noticeable features. Affected individuals typically require the use of a wheelchair about 10 years after signs and symptoms appear.  About 25 percent of people with Friedreich ataxia have an atypical form that begins after age 25. Affected individuals who develop Friedreich ataxia between ages 26 and 39 are considered to have late-onset Friedreich ataxia (LOFA). When the signs and symptoms begin after age 40 the condition is called very late-onset Friedreich ataxia (VLOFA). LOFA and VLOFA usually progress more slowly than typical Friedreich ataxia.


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[User] What are the symptoms of Dystonia 6, torsion ?

[Assistant] What are the signs and symptoms of Dystonia 6, torsion? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 6, torsion. 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) Incomplete penetrance 60% Myoclonus 5% Abnormality of the head - Autosomal dominant inheritance - Dysarthria - Laryngeal dystonia - Limb dystonia - Oromandibular dystonia - Torsion dystonia - Torticollis - Writer's cramp - 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 Neuronal Migration Disorders ?

[Assistant] Treatment is symptomatic, and may include anti-seizure medication and special or supplemental education consisting of physical, occupational, and speech therapies.


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[User] What is (are) Adult Hodgkin Lymphoma ?

[Assistant]
Key Points
                    - Adult Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system.    - There are two main types of Hodgkin lymphoma: classical and nodular lymphocyte-predominant.    - Age, gender, and Epstein-Barr infection can affect the risk of adult Hodgkin lymphoma.     - Signs of adult Hodgkin lymphoma include swollen lymph nodes, fever, night sweats, and weight loss.     - Tests that examine the lymph nodes are used to detect (find) and diagnose adult Hodgkin lymphoma.    - Certain factors affect prognosis (chance of recovery) and treatment options.

                    Adult Hodgkin lymphoma is a disease in which malignant (cancer) cells form in the lymph system.
                    Adult Hodgkin lymphoma is a type of cancer that develops in the lymph system, part of the body's immune system. The immune system protects the body from foreign substances, infection, and diseases. The lymph system is made up of the following:         -  Lymph: Colorless, watery fluid that carries white blood cells called lymphocytes through the lymph system. Lymphocytes protect the body against infections and the growth of tumors.    -  Lymph vessels: A network of thin tubes that collect lymph from different parts of the body and return it to the bloodstream.     -  Lymph nodes: Small, bean-shaped structures that filter lymph and store white blood cells that help fight infection and disease. Lymph nodes are located along the network of lymph vessels found throughout the body. Clusters of lymph nodes are found in the neck, underarm, abdomen, pelvis, and groin.    -  Spleen: An organ that makes lymphocytes, filters the blood, stores blood cells, and destroys old blood cells. It is located on the left side of the abdomen near the stomach.    -  Thymus: An organ in which lymphocytes grow and multiply. The thymus is in the chest behind the breastbone.    -  Tonsils: Two small masses of lymph tissue at the back of the throat. The tonsils make lymphocytes.    -  Bone marrow: The soft, spongy tissue in the center of large bones. Bone marrow makes white blood cells, red blood cells, and platelets.         Lymph tissue is also found in other parts of the body such as the stomach, thyroid gland, brain, and skin. Cancer can spread to the liver and lungs.    Lymphomas are divided into two general types: Hodgkin lymphoma and non-Hodgkin lymphoma. This summary is about the treatment of adult Hodgkin lymphoma. (See the PDQ summary on Adult Non-Hodgkin Lymphoma Treatment for more information.)   Hodgkin lymphoma can occur in both adults and children. Treatment for adults is different than treatment for children. Hodgkin lymphoma may also occur in patients who have acquired immunodeficiency syndrome (AIDS); these patients require special treatment.    See the following PDQ summaries for more information:         -  Childhood Hodgkin Lymphoma Treatment     -  AIDS-Related Lymphoma Treatment         Hodgkin lymphoma in pregnant women is the same as the disease in nonpregnant women of childbearing age. However, treatment is different for pregnant women. This summary includes information about treating Hodgkin lymphoma during pregnancy.

                    There are two main types of Hodgkin lymphoma: classical and nodular lymphocyte-predominant.
                    Most Hodgkin lymphomas are the classical type. The classical type is broken down into the following four subtypes:         - Nodular sclerosing Hodgkin lymphoma.    - Mixed cellularity Hodgkin lymphoma.    - Lymphocyte depletion Hodgkin lymphoma.    - Lymphocyte-rich classical Hodgkin lymphoma.


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[User] What is (are) Polycystic Ovary Syndrome ?

[Assistant] Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. One result is that cysts (fluid-filled sacs) develop on the ovaries. Women who are obese are more likely to have polycystic ovary syndrome.    Symptoms of PCOS include:      - Infertility    - Pelvic pain    - Excess hair growth on the face, chest, stomach, thumbs, or toes    - Baldness or thinning hair    - Acne, oily skin, or dandruff    - Patches of thickened dark brown or black skin          Women with PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. Medicines can help control the symptoms. Birth control pills help women have normal periods, reduce male hormone levels, and clear acne. Other medicines can reduce hair growth and control blood pressure and cholesterol. There is no cure.    NIH: National Institute of Child Health and Human Development


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

[Assistant] The NINDS supports a broad program of research to better understand congenital seizure disorders. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as Sturge-Weber syndrome.


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[User] What is (are) Ainhum ?

[Assistant] Ainhum is the autoamputation of a finger or toe as a result of a fibrotic band that constricts the finger or toe until it falls off. Ainhum most often affects the fifth toe on both feet. Ainhum is believed to be triggered by some sort of trauma, but the exact reason why it happens is not well understood. The condition mainly affects people that live in tropical regions.


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[User] Is pseudocholinesterase deficiency inherited ?

[Assistant] When due to genetic causes, this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive disorder have one copy of the altered gene in each cell and are called carriers. They can pass on the gene mutation to their children, but they do not usually experience signs and symptoms of the disorder. In some cases, carriers of BCHE gene mutations take longer than usual to clear choline ester drugs from the body, but not as long as those with two copies of the altered gene in each cell.


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[User] What is (are) Lesch Nyhan syndrome ?

[Assistant] Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. Nervous system and behavioral disturbances also occur, such as involuntary muscle movements and self injury (including biting and head banging). People with Lesch Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Lesch Nyhan syndrome is caused by changes (mutations) in the HPRT1 gene and is inherited in an X-linked recessive manner. Treatment is symptomatic and supportive. Affected people often do not survive past the first or second decade of life due to renal failure.


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[User] What are the symptoms of Summitt syndrome ?

[Assistant] What are the signs and symptoms of Summitt syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Summitt 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) Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Craniosynostosis 90% Epicanthus 90% Finger syndactyly 90% Genu valgum 90% Hypertelorism 90% Macrocephaly 90% Narrow face 90% Obesity 90% Plagiocephaly 90% Prominent metopic ridge 90% Tall stature 90% Abnormality of the metacarpal bones 50% Depressed nasal ridge 50% Strabismus 50% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Hypoplasia of penis 7.5% Low-set, posteriorly rotated ears 7.5% Autosomal recessive inheritance - Oxycephaly - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the genetic changes related to cerebral cavernous malformation ?

[Assistant] Mutations in at least three genes, KRIT1 (also known as CCM1), CCM2, and PDCD10 (also known as CCM3), cause familial cerebral cavernous malformations.  The precise functions of these genes are not fully understood. Studies show that the proteins produced from these genes are found in the junctions connecting neighboring blood vessel cells. The proteins interact with each other as part of a complex that strengthens the interactions between cells and limits leakage from the blood vessels. Mutations in any of the three genes impair the function of the protein complex, resulting in weakened cell-to-cell junctions and increased leakage from vessels as seen in cerebral cavernous malformations.  Mutations in these three genes account for 85 to 95 percent of all cases of familial cerebral cavernous malformations. The remaining 5 to 15 percent of cases may be due to mutations in unidentified genes or to other unknown causes. Mutations in the KRIT1, CCM2, and PDCD10 genes are not involved in sporadic cerebral cavernous malformations. The cause of this form of the condition is unknown.


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

[Assistant] Mutations in the SEPT9 gene cause hereditary neuralgic amyotrophy. The SEPT9 gene provides instructions for making a protein called septin-9, which is part of a group of proteins called septins. Septins are involved in a process called cytokinesis, which is the step in cell division when the fluid inside the cell (cytoplasm) divides to form two separate cells.  The SEPT9 gene seems to be turned on (active) in cells throughout the body. Approximately 15 slightly different versions (isoforms) of the septin-9 protein may be produced from this gene. Some types of cells make certain isoforms, while other cell types produce other isoforms. However, the specific distribution of these isoforms in the body's tissues is not well understood. Septin-9 isoforms interact with other septin proteins to perform some of their functions.  Mutations in the SEPT9 gene may change the sequence of protein building blocks (amino acids) in certain septin-9 isoforms in ways that interfere with their function. These mutations may also change the distribution of septin-9 isoforms and their interactions with other septin proteins in some of the body's tissues. This change in the functioning of septin proteins seems to particularly affect the brachial plexus, but the reason for this is unknown.  Because many of the triggers for hereditary neuralgic amyotrophy also affect the immune system, researchers believe that an autoimmune reaction may be involved in this disorder. However, the relation between SEPT9 mutations and immune function is unclear. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. An autoimmune attack on the nerves in the brachial plexus likely results in the signs and symptoms of hereditary neuralgic amyotrophy.  At least 15 percent of families affected by hereditary neuralgic amyotrophy do not have SEPT9 gene mutations. In these cases, the disorder is believed to be caused by mutations in a gene that has not been identified.


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[User] What are the treatments for African iron overload ?

[Assistant] These resources address the diagnosis or management of African iron overload:  - Genetic Testing Registry: African nutritional hemochromatosis   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 polymicrogyria ?

[Assistant] These resources address the diagnosis or management of polymicrogyria:  - Gene Review: Gene Review: Polymicrogyria Overview  - Genetic Testing Registry: Congenital bilateral perisylvian syndrome  - Genetic Testing Registry: Polymicrogyria, asymmetric  - Genetic Testing Registry: Polymicrogyria, bilateral frontoparietal  - Genetic Testing Registry: Polymicrogyria, bilateral occipital   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] Is persistent Mllerian duct syndrome inherited ?

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


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[User] What is (are) Delirium ?

[Assistant] Delirium is a condition that features rapidly changing mental states. It causes confusion and changes in behavior. Besides falling in and out of consciousness, there may be problems with       - Attention and awareness    - Thinking and memory    - Emotion    - Muscle control    - Sleeping and waking       Causes of delirium include medications, poisoning, serious illnesses or infections, and severe pain. It can also be part of some mental illnesses or dementia.    Delirium and dementia have similar symptoms, so it can be hard to tell them apart. They can also occur together. Delirium starts suddenly and can cause hallucinations. The symptoms may get better or worse, and can last for hours or weeks. On the other hand, dementia develops slowly and does not cause hallucinations. The symptoms are stable, and may last for months or years.     Delirium tremens is a serious type of alcohol withdrawal syndrome. It usually happens to people who stop drinking after years of alcohol abuse.    People with delirium often, though not always, make a full recovery after their underlying illness is treated.


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[User] How many people are affected by holocarboxylase synthetase deficiency ?

[Assistant] The exact incidence of this condition is unknown, but it is estimated to affect 1 in 87,000 people.


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[User] What is (are) Adult Primary Liver Cancer ?

[Assistant]
Key Points
                    - Adult primary liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver.    - There are two types of adult primary liver cancer.    - Having hepatitis or cirrhosis can affect the risk of adult primary liver cancer.     - Signs and symptoms of adult primary liver cancer include a lump or pain on the right side.     - Tests that examine the liver and the blood are used to detect (find) and diagnose adult primary liver cancer.    - Certain factors affect prognosis (chance of recovery) and treatment options.

                    Adult primary liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver.
                    The liver is one of the largest organs in the body. It has four lobes and fills the upper right side of the abdomen inside the rib cage. Three of the many important functions of the liver are:         - To filter harmful substances from the blood so they can be passed from the body in stools and urine.    - To make bile to help digest fat that comes from food.     - To store glycogen (sugar), which the body uses for energy.

                    There are two types of adult primary liver cancer.
                    The two types of adult primary liver cancer are:         -  Hepatocellular carcinoma.    -  Cholangiocarcinoma (bile duct cancer). (See the PDQ summary on Bile Duct Cancer Treatment for more information.)        The most common type of adult primary liver cancer is hepatocellular carcinoma. This type of liver cancer is the third leading cause of cancer-related deaths worldwide.   This summary is about the treatment of primary liver cancer (cancer that begins in the liver). Treatment of cancer that begins in other parts of the body and spreads to the liver is not covered in this summary.    Primary liver cancer can occur in both adults and children. However, treatment for children is different than treatment for adults. (See the PDQ summary on Childhood Liver Cancer Treatment for more information.)


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[User] What is (are) Febrile infection-related epilepsy syndrome ?

[Assistant] Febrile infection-related epilepsy syndrome (FIRES) is a severe brain disorder that develops in children after a fever. This condition results in sudden seizures and leads to declines in memory and intellectual ability. FIRES can also cause psychiatric disorders or problems with motor skills. The cause of FIRES is unknown, but may be related to infection, genetic susceptibility, an autoimmune disorder, or a problem with metabolism. Treatment involves antiepileptic medications to manage seizures, but they do not usually work well.


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[User] What is (are) Camurati-Engelmann disease ?

[Assistant] Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene which is inherited in an autosomal dominant fashion. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition. In others, features are present, but a mutation cannot be identified. These cases are referred to as Camurati-Engelmann disease type II.  Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition.


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[User] What are the symptoms of Atelosteogenesis type 1 ?

[Assistant] What are the signs and symptoms of Atelosteogenesis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Atelosteogenesis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) 11 pairs of ribs - Aplasia/Hypoplasia of the ulna - Brachydactyly syndrome - Cleft palate - Clubbing - Club-shaped proximal femur - Coronal cleft vertebrae - Cryptorchidism - Depressed nasal bridge - Distal tapering femur - Elbow dislocation - Encephalocele - Fibular aplasia - Frontal bossing - Fused cervical vertebrae - Hypoplasia of midface - Laryngeal stenosis - Malar flattening - Multinucleated giant chondrocytes in epiphyseal cartilage - Narrow chest - Neonatal death - Polyhydramnios - Premature birth - Proptosis - Radial bowing - Rhizomelia - Short femur - Short humerus - Short metacarpal - Short metatarsal - Short neck - Short nose - Sporadic - Stillbirth - Talipes equinovarus - Thoracic platyspondyly - Tibial bowing - 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) Russell-Silver syndrome ?

[Assistant] Russell-Silver syndrome (RSS) is a congenital disorder that causes poor growth; low birth weight; short height; and size differences (asymmetry) of parts of the body. Other signs and symptoms may include poor appetite; low blood sugar (hypoglycemia) due to feeding difficulties; a small, triangular face with distinctive facial features; clinodactyly (curved finger); digestive system abnormalities; delayed development; and/or learning disabilities. The genetic causes of RSS are complex and relate to certain genes that control growth. Most cases are not inherited from a parent and occur sporadically. In rare cases, it may be inherited in an autosomal dominant or autosomal recessive manner.


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[User] What is (are) Epilepsy ?

[Assistant] Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness.    Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown.    Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy.    NIH: National Institute of Neurological Disorders and Stroke


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[User] What are the symptoms of Whipple Disease ?

[Assistant]
Signs and symptoms of Whipple disease can vary widely from person to person. The most common symptoms of Whipple disease are

- diarrhea  - weight loss caused by malabsorption

A person may not have diarrhea. Instead, other signs and symptoms of Whipple disease may appear, such as

- abnormal yellow and white patches on the lining of the small intestine  - joint pain, with or without inflammation, that may appear off and on for years before other symptoms  - fatty or bloody stools  - abdominal cramps or bloating felt between the chest and groin  - enlarged lymph nodesthe small glands that make infection-fighting white blood cells  - loss of appetite  - fever  - fatigue, or feeling tired  - weakness  - darkening of the skin

People with a more advanced stage of Whipple disease may have neurologic symptomsthose related to the central nervous systemsuch as

- vision problems.  - memory problems or personality changes.  - facial numbness.  - headaches.  - muscle weakness or twitching.  - difficulty walking.  - hearing loss or ringing in the ears.  - dementiathe name for a group of symptoms caused by disorders that affect the brain. People with dementia may not be able to think well enough to do normal activities such as getting dressed or eating.

Less common symptoms of Whipple disease may include

- chronic cough.  - chest pain.  - pericarditisinflammation of the membrane surrounding the heart.  - heart failurea long-lasting condition in which the heart cannot pump enough blood to meet the bodys needs. Heart failure does not mean the heart suddenly stops working.


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[User] What is (are) Farber's disease ?

[Assistant] Farber's disease is an inherited condition involving the breakdown and use of fats in the body (lipid metabolism). People with this condition have an abnormal accumulation of lipids (fat) throughout the cells and tissues of the body, particularly around the joints. Farber's disease is characterized by three classic symptoms: a hoarse voice or weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Other symptoms may include difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. Researchers have described seven types of Farber's disease based on their characteristic features. This condition is caused by mutations in the ASAH1 gene and is inherited in an autosomal recessive manner.


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[User] What are the genetic changes related to hereditary myopathy with early respiratory failure ?

[Assistant] HMERF can be caused by a mutation in the TTN gene. This gene provides instructions for making a protein called titin. Titin plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle.  Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of its most important jobs is to provide structure, flexibility, and stability to these cell structures. Titin also plays a role in chemical signaling and in assembling new sarcomeres.  The TTN gene mutation responsible for HMERF leads to the production of an altered version of the titin protein. Studies suggest that this change may disrupt titin's interactions with other proteins within sarcomeres and interfere with the protein's role in chemical signaling. Consequently, muscle fibers become damaged and weaken over time. It is unclear why these effects are usually limited to proximal muscles and muscles involved in breathing.  Some people with the characteristic features of HMERF do not have identified mutations in the TTN gene. In these cases, the genetic cause of the condition is unknown.


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[User] How to prevent Crimean-Congo Hemorrhagic Fever (CCHF) ?

[Assistant]
Agricultural workers and others working with animals should use insect repellent on exposed skin and clothing. Insect repellants containing DEET (N, N-diethyl-m-toluamide) are the most effective in warding off ticks. Wearing gloves and other protective clothing is recommended. Individuals should also avoid contact with the blood and body fluids of livestock or humans who show symptoms of infection. It is important for healthcare workers to use proper infection control precautions to prevent occupational exposure.

An inactivated, mouse-brain derived vaccine against CCHF has been developed and is used on a small scale in Eastern Europe. However, there is no safe and effective vaccine currently available for human use. Further research is needed to develop these potential vaccines as well as determine the efficacy of different treatment options including ribavirin and other antiviral drugs.


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[User] What is (are) Proteus-like syndrome ?

[Assistant] Proteus-like syndrome describes people who do not meet the diagnostic criteria for Proteus syndrome but who share many of the characteristic signs and symptoms associated with the condition. Affected people may experience some of the following features: overgrowth of the bones, skin, and other tissues; hamartomas; abnormalities of the skin, blood vessels (vascular tissue) and fat (adipose tissue); and distinctive facial features. Approximately 50% of people with Proteus-like syndrome are found to have changes (mutations) in the PTEN gene. In these cases, the inheritance is autosomal dominant. Treatment is based on the signs and symptoms present in each person.