bowang0911/MedQuAD huggingface dataset:
How might Barrett esophagus be treated? The treatment of Barrett esophagus largely depends on the severity of the condition as determined by the level of dysplasia seen on biopsy. In people with no dysplasia or low-grade dysplasia, treatment is often focused on easing the signs and symptoms of gastroesophageal reflux disease (GERD), which can cause further damage to the esophagus. This may include certain medications and lifestyle modifications such as avoiding smoking; eliminating food and drinks that trigger heartburn; raising the head of the bed while sleeping; and/or avoiding late night snacking. Periodic endoscopy may also be recommended to monitor Barrett esophagus as other treatments may be indicated if the condition advances. Because high-grade dysplasia is thought to be the final step before cells change into esophageal cancer, more aggressive treatments are typically recommended. These may include:[ Endoscopic resection - an endoscope is used to remove damaged cells Endoscopic ablative therapies - different techniques such as photodynamic therapy or radiofrequency ablation are used to destroy the dysplasia in the esophagus. In photodynamic therapy, abnormal cells are destroyed by making them sensitive to light, while radiofrequency ablation uses heat to remove abnormal esophagus tissue. Surgery - the damaged part of the esophagus is removed and the remaining portion is attached to the stomach The National Institute of Diabetes and Digestive and Kidney Diseases' (NIDDK) Web site offers more specific information on the treatment and management of Barret esophagus. Please click on the link to access this resource.
Juvenile amyotrophic lateral sclerosis (ALS) is a type of motor neuron disease which leads to problems with muscle control and movement. Signs and symptoms of juvenile ALS tend to present by age 25 years or younger.  Unlike other types of ALS, juvenile ALS is not rapidly progressive. People with juvenile ALS can have a normal life expectancy. Juvenile ALS is often genetic and may be inherited in an autosomal dominant or autosomal recessive fashion.
What are the signs and symptoms of juvenile amyotrophic lateral sclerosis? Signs and symptoms of juvenile ALS vary but include slowly to very slowly progressive muscle weakness, increased muscle tone, Babinski reflex, muscle spasm (clonus), exaggerated reflexes, muscle wasting, and muscle twitching. Juvenile ALS usually does not affect thinking or mental processing, nor does it tend to cause sensory dysfunction (e.g., numbness or tingling). As the condition progresses muscle involvement can be severe. Some people with juvenile ALS, eventually experience muscle weakness in the face and throat. Some have experienced emotional liability (involuntary crying or laughing) and/or respiratory weakness.[133]
What causes juvenile amyotrophic lateral sclerosis? Juvenile amyotrophic lateral sclerosis (ALS) is often genetic and may be caused by mutations in the ALS2 or SETX genes. In some cases the underlying gene abnormality cannot be determined. Juvenile ALS may be inherited in an autosomal dominant (as in ALS type 4) or autosomal recessive (as in ALS type 2) fashion.
How might juvenile amyotrophic lateral sclerosis be treated? Treatments and therapies are available to relieve symptoms and improve the quality of life of people with juvenile ALS. Medications, such as those that reduce fatigue and ease muscle cramps are available. Physical therapy and special equipment can be helpful. Multidisciplinary teams of health care professionals such as physicians; pharmacists; physical, occupational, and speech therapists; nutritionists; and social workers can help to develop personalized treatment plans. While the Food and Drug Administration (FDA) has approved riluzole (Rilutek) for treatment of ALS, we found limited information regarding its use for juvenile ALS. We recommend that you discuss any questions regarding the risk/benefits of this drug with your healthcare provider.
Hemifacial microsomia (HFM) is a condition in which part of one side of the face is underdeveloped and does not grow normally. The eye, cheekbone, lower jaw, facial nerves, muscles, and neck may be affected. Other findings may include hearing loss from underdevelopment of the middle ear; a small tongue; and macrostomia (large mouth). HFM is the second most common facial birth defect after clefts. The cause of HFM in most cases is unknown. It usually occurs in people with no family history of HFM, but it is inherited in some cases. Treatment depends on age and the specific features and symptoms in each person.
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.
Is hemifacial microsomia inherited? Hemifacial microsomia most often occurs in a single individual in a family and is not inherited. If the condition is caused by a chromosomal abnormality, it may be inherited from one affected parent or it may result from a new abnormality in the chromosome and occur in people with no history of the disorder in their family. In a very small number of cases, hemifacial microsomia is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In rare cases, the condition is inherited in an autosomal recessive pattern, which 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. The gene or genes involved in hemifacial microsomia are unknown. In some affected families, people seem to inherit an increased risk of developing hemifacial microsomia, not the condition itself. In these cases, some combination of genetic changes and environmental factors may be involved.
How might hemifacial microsomia be treated? Treatment of hemifacial microsomia varies depending on the features present and the severity in each affected person. Various types of surgeries may be needed in many cases. Some children need breathing support or a tracheostomy soon after birth if the jaw is severely affected. However in most cases, airway problems can be managed without surgery. Those with a jaw deformity and/or clefts may have feeding problems and may need supplemental feedings through a nasogastric tube to support growth and weight gain. Babies born with cleft lip or palate can have surgical repairs done during the first year. Cleft lip repair is typically performed when the child is 3-6 months old, while cleft palate surgery is generally performed when the child is about a year old. A lateral facial cleft, one of the most severe abnormalities associated with the condition, also requires reconstruction in stages. If eye closure is incomplete due to eyelid abnormalities or facial paralysis is present, a child may need eye protection or surgery. Surgery may also be used for eyelid differences to reposition the lower lids and corners of the eyes. Some children with abnormally shaped or missing ears may choose to have a series of reconstructive surgeries to make the ear appear more normal. Children with skin, cheek and other soft tissue deficiencies may need augmentation procedures such as fat grafting or tissue transfer. Severe bone abnormalities may require surgery as well. Because multiple body systems may be involved in hemifacial microsomia, affected people should continually be monitored for complications.
Swyer-James syndrome is a rare condition in which the lung (or portion of the lung) does not grow normally and is slightly smaller than the opposite lung, usually following bronchiolitis in childhood. It is typically diagnosed after a chest X-ray or CT scan which shows unilateral pulmonary hyperlucency (one lung appearing less dense) and diminished pulmonary arteries. Affected individuals may not have any symptoms, or more commonly, they may have recurrent pulmonary infections and common respiratory symptoms. The cause of the condition is not completely understood.
What causes Swyer-James syndrome? The cause of Swyer-James syndrome is not completely understood. Most experts agree that the initial abnormality occurs in the distal bronchi (air tubes that bring air to and from the lungs) after an infection during early childhood. The smaller size of the affected lung may be due to the infection inhibiting the normal growth of the lung. A number of reports have described Swyer-James syndrome following childhood histories including radiation therapy; measles; pertussis (whooping cough); tuberculosis; breathing in a foreign body; mycoplasma; and viral infections, especially adenovirus. Research has suggested that a hyper-immune reaction in the lung (producing an unusual abundance of antibodies) may play a role in sustaining airway damage after the initial infection. Some have argued a pre-existing lung abnormality may predispose individuals to the condition. Although bronchial damage of some kind during childhood is generally considered to play an important role, many affected individuals have had no known history of an airway infection. It is possible that some unknown factors present at birth may contribute to the development of Swyer-James syndrome.
How might Swyer-James syndrome be treated? Individuals with Swyer-James syndrome reportedly have been treated conservatively in the past. However, although there are few reports published, it has been recognized that surgical treatment should be considered when infections cannot be controlled. There have been reports of affected individuals being treated with pneumonectomy (removal of a lung), lobectomy (removal of one or more lobes of a lung) or segmentectomy (removal of a specific segment). It has been proposed that individuals with Swyer-James syndrome may benefit from lung volume reduction surgery (LVRS), a procedure in which damaged tissue is removed from the lung. LVRS was reportedly performed successfully in an individual with Swyer-James syndrome, and it has been suggested that the procedure could be used for managing the condition in other affected individuals because it has shown to be effective for improving pulmonary function and symptoms.
Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine, upper arms and upper legs, and results in shortened stature. For reasons not well understood, this rare skeletal dysplasia is also associated with early and progressive vision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown. It is thought to be inherited in an autosomal recessive fashion.
How might axial spondylometaphyseal dysplasia be treated? Is growth hormone therapy an option? Is surgery helpful? Can the vision problems be corrected? There is no specific treatment for axial spondylometaphyseal dysplasia. Symptoms such as lung infections, breathing difficulties, coxa vara, scoliosis, retinitis pigmentosa, and optic atrophy are managed individually. Specialists such as opthmologists, geneticists, and orthopedists work in concert in devloping an individualized treatment plan. We are unaware of any cases describing the use of growth hormone therapies for treatment of short stature caused by axial spondylometaphyseal dysplasia. Treatment of skeletal dysplasias with growth hormone therapy must be done with caution.  The Little People of America, Inc Web site lists articles on repiratory and breathing problems in people with skeletal dysplasias, including an article titled Breathing Problems Among Little People: When to Be Concerned. Detailed information related to the management of retinitis pigmentosa can be accessed through GeneReviews and the Treatment and Medication sections of Medscape Reference. Detailed information related to the management of coxa vara can also be found in the Treatment sections of a Medscape Reference review article on this condition. Johns Hopkins Department of Orthopedic Surgery offers a Patient Guide to Scoliosis. MedlinePlus.gov provides information on optic atrophy.  Further medical support resources can be found through the Little People of America, Inc.
What are the signs and symptoms of Preaxial deficiency, postaxial polydactyly and hypospadias? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial deficiency, postaxial polydactyly and hypospadias. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the thumb 90% Brachydactyly syndrome 90% Displacement of the external urethral meatus 90% Postaxial hand polydactyly 90% Short distal phalanx of finger 90% Short hallux 90% Aplastic/hypoplastic toenail 50% Clinodactyly of the 5th finger 50% Autosomal dominant inheritance - Glandular hypospadias - Short 2nd toe - 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.
Neonatal hemochromatosis is a disease in which too much iron builds up in the body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4
What are the signs and symptoms of Neonatal hemochromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal hemochromatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal localization of kidney 90% Anteverted nares 90% Aplasia/Hypoplasia of the nipples 90% Blepharophimosis 90% Congenital hepatic fibrosis 90% Hypoglycemia 90% Abnormal bleeding - Autosomal recessive inheritance - Cholestasis - Cirrhosis - Congenital onset - Hepatic failure - Hepatic fibrosis - Hepatocellular necrosis - Increased serum ferritin - Increased serum iron - Intrauterine growth retardation - Nonimmune hydrops fetalis - Oligohydramnios - Prolonged neonatal jaundice - Rapidly progressive - 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.
What are the signs and symptoms of Muscular dystrophy, congenital, infantile with cataract and hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, infantile with cataract and hypogonadism. 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 testis 90% Gait disturbance 90% Mask-like facies 90% Muscular hypotonia 90% Polycystic ovaries 90% Skeletal muscle atrophy 90% Abnormality of the nipple 50% Cataract 50% Cubitus valgus 50% Joint hypermobility 50% Kyphosis 50% Ptosis 50% Strabismus 50% Autosomal recessive inheritance - Congenital muscular dystrophy - Hypogonadism - 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.
Lichen sclerosus is a chronic skin disorder that is more common in women, most often affecting the external part of the vagina (vulva) or the area around the anus. In men, it typically affects the tip of the penis. It can occur at any age but is usually seen in women over age 50. Some people have no symptoms, while others may experience itchiness (sometimes severe), discomfort, or blistering. It often lasts for years and can cause permanent scarring. The underlying cause of lichen sclerosus is not fully understood but it is thought to relate to an autoimmune process. Treatment may include topical steroids or other types of topical creams and/or surgery.
What are the signs and symptoms of Lichen sclerosus? The symptoms are the same in children and adults. Early in the disease, small, subtle white spots appear. These areas are usually slightly shiny and smooth. As time goes on, the spots develop into bigger patches, and the skin surface becomes thinned and crinkled. As a result, the skin tears easily, and bright red or purple discoloration from bleeding inside the skin is common.  Symptoms vary depending on the area affected. Patients experience different degrees of discomfort. When lichen sclerosus occurs on parts of the body other than the genital area, most often there are no symptoms, other than itching. If the disease is severe, bleeding, tearing, and blistering caused by rubbing or bumping the skin can cause pain. The Human Phenotype Ontology provides the following list of signs and symptoms for Lichen sclerosus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal renal physiology 90% Abnormality of reproductive system physiology 90% Abnormality of the gastrointestinal tract 90% Aplasia/Hypoplasia of the skin 90% Constipation 90% Hyperkeratosis 90% Lichenification 90% Pruritus 90% Autoimmunity 7.5% Psoriasis 7.5% Vaginal neoplasm 7.5% Verrucae 7.5% Autosomal dominant inheritance - Squamous cell carcinoma - 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.
What causes lichen sclerosus? The underlying cause of lichen sclerosus is not fully understood. The condition may be due to genetic, hormonal, irritant and/or infectious factors (or a combination of these factors). It is believed to relate to an autoimmune process, in which antibodies mistakenly attack a component of the skin. Other autoimmune conditions are reported to occur more frequently than expected in people with lichen sclerosis. In some cases, lichen sclerosus appears on skin that has been damaged or scarred from previous injury or trauma.
How might lichen sclerosus be treated? Strong topical steroid creams or ointments reportedly are very helpful for lichen sclerosus, especially when it affects the genital areas. However, the response to this treatment varies. While itching may be relieved within days, it can take weeks or months for the skin's appearance to return to normal. Other treatments that may be used instead of steroid creams, or in combination with steroid creams, include calcipotriol cream, topical and systemic retinoids (acitretin), and/or systemic steroids. If the vaginal opening has narrowed, dilators may be needed. In rare cases, surgery is necessary to allow for sexual intercourse. The condition sometimes causes the vaginal opening to narrow or close again after surgery is initially successful. Additional information about treatment of lichen sclerosus can be viewed on Medscape's Web site.