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

[User] What are the symptoms of Thiamine responsive megaloblastic anemia syndrome ?

[Assistant] What are the signs and symptoms of Thiamine responsive megaloblastic anemia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thiamine responsive megaloblastic anemia 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) Macrocytic anemia 90% Sensorineural hearing impairment 90% Type I diabetes mellitus 90% Optic atrophy 50% Thrombocytopenia 50% Abnormality of retinal pigmentation 7.5% Cerebral ischemia 7.5% Congestive heart failure 7.5% Short stature 7.5% Sudden cardiac death 7.5% Visual impairment 7.5% Ataxia 5% Cardiomyopathy 5% Cryptorchidism 5% Gastroesophageal reflux 5% Seizures 5% Situs inversus totalis 5% Stroke 5% Abnormality of the skin - Aminoaciduria - Arrhythmia - Atria septal defect - Autosomal recessive inheritance - Cone/cone-rod dystrophy - Congenital septal defect - Diabetes mellitus - Hoarse voice - Nystagmus - Retinal degeneration - Sideroblastic anemia - Thiamine-responsive megaloblastic anemia - Ventricular septal defect - Visual loss - 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 Hashimoto's encephalitis ?

[Assistant] What are the signs and symptoms of Hashimoto's encephalitis? The symptoms of Hashimoto's encephalitis can vary among affected people. They most often include sudden or subacute onset of confusion with alteration of consciousness. Some affected people have multiple, recurrent episodes of neurological deficits with cognitive dysfunction. Others experience a more progressive course characterized by slowly progressive cognitive impairment with dementia, confusion, hallucinations, or sleepiness. In some cases, rapid deterioration to coma can occur. In addition to confusion and mental status changes, symptoms may include seizures and myoclonus (muscle jerking) or tremor. Psychosis, including visual hallucinations and paranoid delusions, has also been reported.


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[User] What is (are) Scleroderma ?

[Assistant] Scleroderma is an autoimmune disorder that involves changes in the skin, blood vessels, muscles, and internal organs. There are two main types: localized scleroderma, which affects only the skin; and systemic scleroderma, which affects the blood vessels and internal organs, as well as the skin. These two main types also have different sub-types. Localized scleroderma can be divided in: Linear scleroderma (en coup de sabre) Morphea (localized, generalized, guttata and deep). Systemic scleroderma is subdivided in: Diffuse cutaneous systemic sclerosis Limited cutaneous systemic sclerosis (which includes CREST syndrome) Limited Systemic Sclerosis (or systemic sclerosis sine scleroderm). There are also cases of environmentally-induced scleroderma and cases where scleroderma is part of other rheumatic disorders, like rheumatoid arthritis, lupus or Sjogren syndrome. The underlying cause of scleroderma is currently unknown; however, some scientists suspect that it may be related to a buildup of collagen in the skin and other organs due to an abnormal immune system response. There is no cure, but various treatments can relieve symptoms.


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[User] Who is at risk for Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis? ?

[Assistant]
Acanthamoeba keratitis

Acanthamoeba keratitis is a rare disease that can affect anyone, but is most common in individuals who wear contact lenses. In the United States, an estimated 85% of cases occur in contact lens users. The incidence of the disease in developed countries is approximately one to 33 cases per million contact lens wearers.

For people who wear contact lenses, certain practices can increase the risk of getting Acanthamoeba keratitis:

    - Storing and handling lenses improperly
    - Disinfecting lenses improperly (such as using tap water or topping off solutions when cleaning the lenses or lens case)
    - Swimming, using a hot tub, or showering while wearing lenses
    - Coming into contact with contaminated water
    - Having a history of trauma to the cornea

Contact lens wearers who practice proper lens care and non-contact lens wearers can still develop the infection. For additional information on contact lens care and prevention of Acanthamoeba keratitis visit CDC’s web page on Prevention and Control.

There have been no reports of Acanthamoeba keratitis being spread from one person to another.
   Granulomatous Amebic Encephalitis (GAE)

Granulomatous Amebic Encephalitis (GAE) and disseminated infection are very rare forms of Acanthamoeba infection and primarily affect people with compromised immune systems. While unusual, disseminated infection can also affect healthy children and adults. Conditions that may increase a patient’s risk for GAE and disseminated infection include:

    - AIDS
    - Organ/Tissue transplant
    - Steroids or excessive use of antibiotics
    - Diabetes Mellitus
    - Cancer
    - Disorders in which white blood cells in the lymphatic tissue are over-produced or abnormal
    - Disorders in which blood cells or blood clotting mechanisms do not function properly or are abnormal
    - Liver cirrhosis
    - Lupus


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[User] What are the treatments for adenylosuccinate lyase deficiency ?

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


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[User] What are the symptoms of Conotruncal heart malformations ?

[Assistant] What are the signs and symptoms of Conotruncal heart malformations? The Human Phenotype Ontology provides the following list of signs and symptoms for Conotruncal heart malformations. 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) Tetralogy of Fallot 90% Transposition of the great arteries 90% Abnormality of the aorta 50% Abnormality of the pulmonary artery 50% Patent ductus arteriosus 50% Hypertelorism 5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Broad hallux - Coarctation of aorta - Complete atrioventricular canal defect - Double outlet right ventricle - Postaxial polydactyly - Truncus arteriosus - 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 Lenz microphthalmia syndrome ?

[Assistant] What are the signs and symptoms of Lenz microphthalmia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lenz microphthalmia 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) Aplasia/Hypoplasia affecting the eye 90% Abnormality of dental morphology 50% Abnormality of the ureter 50% Camptodactyly of finger 50% Chorioretinal coloboma 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% External ear malformation 50% Finger syndactyly 50% Glaucoma 50% Iris coloboma 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Microcornea 50% Optic nerve coloboma 50% Oral cleft 50% Preaxial hand polydactyly 50% Renal hypoplasia/aplasia 50% Short stature 50% Abnormality of the clavicle 7.5% Abnormality of the palpebral fissures 7.5% Abnormality of the shoulder 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cataract 7.5% Delayed eruption of teeth 7.5% Hearing impairment 7.5% Hyperlordosis 7.5% Kyphosis 7.5% Long thorax 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Preauricular skin tag 7.5% Scoliosis 7.5% Seizures 7.5% Self-injurious behavior 7.5% Visual impairment 7.5% Webbed neck 7.5% Autistic behavior 5% Pulmonary hypoplasia 5% Abnormal palmar dermatoglyphics - Abnormality of the pinna - Aganglionic megacolon - Agenesis of maxillary lateral incisor - Aggressive behavior - Anal atresia - Anophthalmia - Bicuspid aortic valve - Blindness - Camptodactyly - Ciliary body coloboma - Cleft upper lip - Clinodactyly - Dental crowding - Down-sloping shoulders - Growth delay - High palate - Hydroureter - Hypospadias - Intellectual disability - Joint contracture of the hand - Kyphoscoliosis - Low-set ears - Lumbar hyperlordosis - Microphthalmia - Motor delay - Muscular hypotonia - Narrow chest - Overfolded helix - Pectus excavatum - Ptosis - Pyloric stenosis - Radial deviation of finger - Rectal prolapse - Recurrent otitis media - Renal hypoplasia - Self-mutilation - Short clavicles - Spastic diplegia - Syndactyly - 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 research (or clinical trials) is being done for Craniosynostosis ?

[Assistant] The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can change and offers hope for new ways to treat and prevent birth defects that can prevent normal brain development, such as craniosynostosis.


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

[Assistant] Char syndrome is rare, although its exact incidence is unknown. Only a few families with this condition have been identified worldwide.


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[User] How many people are affected by familial hemophagocytic lymphohistiocytosis ?

[Assistant] Familial hemophagocytic lymphohistiocytosis occurs in approximately 1 in 50,000 individuals worldwide.


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

[Assistant] Werner syndrome is estimated to affect 1 in 200,000 individuals in the United States. This syndrome occurs more often in Japan, affecting 1 in 20,000 to 1 in 40,000 people.


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[User] What is (are) Biliary Atresia ?

[Assistant]
Biliary atresia is a life-threatening condition in infants in which the bile ducts inside or outside the liver do not have normal openings.

Bile ducts in the liver, also called hepatic ducts, are tubes that carry bile from the liver to the gallbladder for storage and to the small intestine for use in digestion. Bile is a fluid made by the liver that serves two main functions: carrying toxins and waste products out of the body and helping the body digest fats and absorb the fat-soluble vitamins A, D, E, and K.

With biliary atresia, bile becomes trapped, builds up, and damages the liver. The damage leads to scarring, loss of liver tissue, and cirrhosis. Cirrhosis is a chronic, or long lasting, liver condition caused by scar tissue and cell damage that makes it hard for the liver to remove toxins from the blood. These toxins build up in the blood and the liver slowly deteriorates and malfunctions. Without treatment, the liver eventually fails and the infant needs a liver transplant to stay alive.

The two types of biliary atresia are fetal and perinatal. Fetal biliary atresia appears while the baby is in the womb. Perinatal biliary atresia is much more common and does not become evident until 2 to 4 weeks after birth. Some infants, particularly those with the fetal form, also have birth defects in the heart, spleen, or intestines.


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[User] What are the symptoms of Lip and Oral Cavity Cancer ?

[Assistant] Signs of lip and oral cavity cancer include a sore or lump on the lips or in the mouth. These and other signs and symptoms may be caused by lip and oral cavity cancer or by other conditions. Check with your doctor if you have any of the following:          - A sore on the lip or in the mouth that does not heal.    - A lump or thickening on the lips or gums or in the mouth.    - A white or red patch on the gums, tongue, or lining of the mouth.    - Bleeding, pain, or numbness in the lip or mouth.    - Change in voice.    - Loose teeth or dentures that no longer fit well.    - Trouble chewing or swallowing or moving the tongue or jaw.    - Swelling of jaw.    - Sore throat or feeling that something is caught in the throat.        Lip and oral cavity cancer may not have any symptoms and is sometimes found during a regular dental exam.


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[User] What are the treatments for Beckwith-Wiedemann syndrome ?

[Assistant] These resources address the diagnosis or management of Beckwith-Wiedemann syndrome:  - Gene Review: Gene Review: Beckwith-Wiedemann Syndrome  - Genetic Testing Registry: Beckwith-Wiedemann syndrome  - MedlinePlus Encyclopedia: Beckwith-Wiedemann syndrome  - MedlinePlus Encyclopedia: Macroglossia  - MedlinePlus Encyclopedia: Omphalocele   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 symptoms of 21-hydroxylase deficiency ?

[Assistant] What are the signs and symptoms of 21-hydroxylase deficiency? Symptoms can vary greatly from patient to patient with 21-hydroxylase deficiency, as a result distinct forms of this deficiency have been recognized. Three common forms include classical salt wasting, simple virilizing, and nonclassical. The Human Phenotype Ontology provides the following list of signs and symptoms for 21-hydroxylase 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) Abnormality of the thorax - Adrenal hyperplasia - Adrenogenital syndrome - Autosomal recessive inheritance - Fever - Growth abnormality - Gynecomastia - Hypertension - Hypoglycemia - Hypospadias - Renal salt wasting - 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 symptoms of classical salt wasting 21-hydroxylase-deficient congenital adrenal hyperplasia? The classical salt wasting form of 21-hydroxylase-deficient is a severe form of 21-hydroxylase deficiency. People with this condition have no 21-hydroxylase function.Within the first week of life newborns may have life threatening salt-wasting crises and low blood pressure. Females are often born with ambiguous genitalia. A close look at the hormone levels in patients with this form of 21-hydroxylase deficiency reveals an increased level of testosterone and rennin, and reduced levels of cortisol and aldosterone. Levels of 17-hydroxyprogesterone is over 5,000 nmol/L. What are the symptoms of simple virilizing 21-hydroxylase-deficient congenital adrenal hyperplasia? Patients with simple virilizing 21-hydroxylase-deficient congenital adrenal hyperplasia have some functioning 21-hydroxylase (about 1%). Females may be born with clitoral enlargement, labial fusion, and sexual ambiguity. Males may present in early childhood with signs of precocious puberty such as very early sexual development, pubic hair development, and/or growth acceleration. Untreated patients have a shorter than average adult height. A close look at hormone levels in patients with simple virilizing 21-hydroxylase deficiency reveal an increased level of testosterone, reduced level of cortisol, normal or increased level of renin, and normal levels of aldosterone. Levels of 17-Hydroxyprogesterone are 2500 to 5000 nmol/L. What are the symptoms of nonclassical 21-hydroxylase-deficient congenital adrenal hyperplasia? People with nonclassical or late-onset 21-hydroxylase-deficient congenital adrenal hyperplasia have 20% to 50% of 21-Hydroxylase activity. They may present in childhood or adulthood with early pubic hair growth or with symptoms of polycystic ovary syndrome. In females symptoms may include excessive hair growth, absent periods, infertility, androgenic alopecia, masculinized genitalia, and acne. Height is likely to be normal. A close look at the hormone levels in patients with the nonclassical type reveal a variably increased level of testosterone and normal levels of aldosterone, renin, and cortisol. Levels of 17-Hydroxyprogesterone are 500 to 2500 nmol/L.


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[User] What are the symptoms of Cataract microcornea syndrome ?

[Assistant] What are the signs and symptoms of Cataract microcornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract microcornea 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) Cataract 90% Microcornea 90% Myopia 50% Corneal dystrophy 7.5% Iris coloboma 7.5% Nystagmus 7.5% Opacification of the corneal stroma 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the symptoms of Eisenmenger syndrome ?

[Assistant] What are the signs and symptoms of Eisenmenger syndrome? Symptoms of Eisenmenger include shortness of breath, chest pain, feeling tired or dizzy, fainting, abnormal heart rhythm (arrhythmia), stroke, coughing up blood, swelling of joints from excess uric acid (gout) and, bluish lips, fingers, toes, and skin (cyanosis). Eisenmenger syndrome usually develops before a child reaches puberty but can also develop in young adulthood.


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[User] What are the genetic changes related to acromicric dysplasia ?

[Assistant] Acromicric dysplasia is caused by mutations in the FBN1 gene, which provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. In this matrix, molecules of fibrillin-1 attach (bind) to each other and to other proteins to form threadlike filaments called microfibrils. The microfibrils become part of the fibers that provide strength and flexibility to connective tissues, which support the bones, skin, and other tissues and organs. Additionally, microfibrils store molecules called growth factors, including transforming growth factor beta (TGF-), and release them at various times to control the growth and repair of tissues and organs throughout the body.  Most of the FBN1 gene mutations that cause acromicric dysplasia change single protein building blocks in the fibrillin-1 protein. The mutations result in a reduction and disorganization of the microfibrils. Without enough normal microfibrils to store TGF-, the growth factor is abnormally active. These effects likely contribute to the physical abnormalities that occur in acromicric dysplasia, but the mechanisms are unclear.


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[User] What are the symptoms of Dystonia 7, torsion ?

[Assistant] What are the signs and symptoms of Dystonia 7, torsion? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 7, 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) Autosomal dominant inheritance - Blepharospasm - Clumsiness - Dysphonia - Hand tremor - Oromandibular dystonia - Skeletal muscle hypertrophy - 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] Is Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis inherited ?

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


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[User] What are the treatments for Alpha-1 antitrypsin deficiency ?

[Assistant] How might alpha-1 antitrypsin deficiency be treated? Treatment of alpha-1 antitrypsin deficiency (AATD) depends on the symptoms and severity in each person. COPD and other related lung diseases are typically treated with standard therapy. Bronchodilators and inhaled steroids can help open the airways and make breathing easier. Intravenous augmentation therapy (regular infusion of purified, human AAT to increase AAT concentrations) has been recommended for people with established fixed airflow obstruction (determined by a specific lung function test). This therapy raises the level of the AAT protein in the blood and lungs. Lung transplantation may be an appropriate option for people with end-stage lung disease. Liver transplantation is the definitive treatment for advanced liver disease. When present, panniculitis may resolve on its own or after dapsone or doxycycline therapy. When this therapy does not help, it has responded to intravenous augmentation therapy in higher than usual doses. All people with severe AATD should have pulmonary function tests every 6 to 12 months. Those with ATT serum concentrations 10% to 20% of normal should have periodic evaluation of liver function to detect liver disease. People with established liver disease should have periodic ultrasounds of the liver to monitor for fibrotic changes and liver cancer (hepatocellular carcinoma). Yearly vaccinations against influenza and pneumococcus are recommended to lessen the progression of lung disease. Vaccination against hepatitis A and B is recommended to lessen the risk of liver disease. People with AATD should avoid smoking and occupations with exposure to environmental pollutants. Parents, older and younger siblings, and children of a person with severe AATD should be evaluated to identify as early as possible those who would benefit from treatment and preventive measures.


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[User] How many people are affected by Paget disease of bone ?

[Assistant] Classic Paget disease of bone occurs in approximately 1 percent of people older than 40 in the United States. Scientists estimate that about 1 million people in this country have the disease. It is most common in people of western European heritage.  Early-onset Paget disease of bone is much rarer. This form of the disorder has been reported in only a few families.


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[User] What are the symptoms of Smith McCort dysplasia ?

[Assistant] What are the signs and symptoms of Smith McCort dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Smith McCort dysplasia. 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) Atlantoaxial instability - Autosomal recessive inheritance - Barrel-shaped chest - Beaking of vertebral bodies - Deformed sella turcica - Delayed femoral head ossification - Disproportionate short-trunk short stature - Dolichocephaly - Genu valgum - Genu varum - Hypoplasia of the odontoid process - Hypoplastic acetabulae - Hypoplastic facial bones - Hypoplastic scapulae - Irregular epiphyses - Kyphosis - Metaphyseal irregularity - Microcephaly - Multicentric femoral head ossification - Platyspondyly - Prominent sternum - Scoliosis - Short metacarpal - Short phalanx of finger - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for Stroke ?

[Assistant] Surgery Surgery can be used to prevent stroke, to treat stroke, or to repair damage to the blood vessels or malformations in and around the brain. - Carotid endarterectomy is a surgical procedure in which a surgeon removes fatty deposits, or plaque, from the inside of one of the carotid arteries. The procedure is performed to prevent stroke. The carotid arteries are located in the neck and are the main suppliers of blood to the brain.  Carotid endarterectomy is a surgical procedure in which a surgeon removes fatty deposits, or plaque, from the inside of one of the carotid arteries. The procedure is performed to prevent stroke. The carotid arteries are located in the neck and are the main suppliers of blood to the brain. Vascular Interventions In addition to surgery, a variety of techniques have been developed to allow certain vascular problems to be treated from inside the artery using specialized catheters with the goal of improving blood flow. (Vascular is a word that refers to blood vessels, arteries, and veins that carry blood throughout the body.) A catheter is a very thin, flexible tube that can be inserted into one of the major arteries of the leg or arm and then directed through the blood vessels to the diseased artery. Physicians trained in this technique called angiography undergo additional training to treat problems in the arteries of the brain or spinal cord. These physicians are called neurointerventionalists. - Angioplasty is widely used by angiographers to open blocked heart arteries, and is also used to prevent stroke. Angioplasty is a procedure in which a special catheter is inserted into the narrowed artery and then a balloon at the tip of the catheter is inflated to open the blocked artery. The procedure improves blood flow to the brain. Angioplasty is widely used by angiographers to open blocked heart arteries, and is also used to prevent stroke. Angioplasty is a procedure in which a special catheter is inserted into the narrowed artery and then a balloon at the tip of the catheter is inflated to open the blocked artery. The procedure improves blood flow to the brain. - Stenting is another procedure used to prevent stroke. In this procedure an angiographer inserts a catheter into the artery in the groin and then positions the tip of the catheter inside the narrowed artery. A stent is a tube-like device made of a mesh-like material that can be slipped into position over the catheter. When positioned inside the narrowed segment the stent is expanded to widen the artery and the catheter is removed. Angioplasty or stenting of the carotid artery can cause pieces of the diseased plaque to loosen. An umbrella-like device is often temporarily expanded above to prevent these pieces from traveling to the brain. Stenting is another procedure used to prevent stroke. In this procedure an angiographer inserts a catheter into the artery in the groin and then positions the tip of the catheter inside the narrowed artery. A stent is a tube-like device made of a mesh-like material that can be slipped into position over the catheter. When positioned inside the narrowed segment the stent is expanded to widen the artery and the catheter is removed. Angioplasty or stenting of the carotid artery can cause pieces of the diseased plaque to loosen. An umbrella-like device is often temporarily expanded above to prevent these pieces from traveling to the brain. -  Angiographers also sometimes use clot removal devices to treat stroke patients in the very early stage. One device involves threading a catheter through the artery to the site of the blockage and then vacuuming out the clot. Another corkscrew-like device can be extended from the tip of a catheter and used to grab the clot and pull it out. Drugs can also be injected through the catheter directly into the clot to help dissolve the clot.  Angiographers also sometimes use clot removal devices to treat stroke patients in the very early stage. One device involves threading a catheter through the artery to the site of the blockage and then vacuuming out the clot. Another corkscrew-like device can be extended from the tip of a catheter and used to grab the clot and pull it out. Drugs can also be injected through the catheter directly into the clot to help dissolve the clot.


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[User] What are the genetic changes related to intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ?

[Assistant] IMAGe syndrome is caused by mutations in the CDKN1C gene. This gene provides instructions for making a protein that helps control growth before birth. The mutations that cause IMAGe syndrome alter the structure and function of the CDKN1C protein, which inhibits normal growth starting in the early stages of development before birth. Researchers are working to determine how these genetic changes underlie the bone abnormalities, adrenal gland underdevelopment, and other signs and symptoms of this condition.  People inherit one copy of most genes from their mother and one copy from their father. For most genes, both copies are fully turned on (active) in cells. The CDKN1C gene, however, is most active when it is inherited from a person's mother. The copy of CDKN1C inherited from a person's father is active at much lower levels in most tissues. This sort of parent-specific difference in gene activation is caused by a phenomenon called genomic imprinting. When genomic imprinting reduces the activity of the copy of a gene inherited from the father, that gene is said to be paternally imprinted.


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

[User] What are the treatments for desmoid tumor ?

[Assistant] These resources address the diagnosis or management of desmoid tumor:  - Dana-Farber Cancer Institute  - Desmoid Tumor Research Foundation: About Desmoid Tumors  - Genetic Testing Registry: Desmoid disease, hereditary   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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

[User] What are the treatments for familial erythrocytosis ?

[Assistant] These resources address the diagnosis or management of familial erythrocytosis:  - Genetic Testing Registry: Erythrocytosis, familial, 2  - Genetic Testing Registry: Erythrocytosis, familial, 3  - Genetic Testing Registry: Erythrocytosis, familial, 4  - Genetic Testing Registry: Familial erythrocytosis, 1  - MedlinePlus Encyclopedia: Erythropoietin Test   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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

[User] What is (are) Hand Injuries and Disorders ?

[Assistant] No matter how old you are or what you do for a living, you are always using your hands. When there is something wrong with them, you may not be able to do your regular activities.     Hand problems include        -  Carpal tunnel syndrome - compression of a nerve as it goes through the wrist, often making your fingers feel numb     - Injuries that result in fractures, ruptured ligaments and dislocations     -  Osteoarthritis - wear-and-tear arthritis, which can also cause deformity     -  Tendinitis - irritation of the tendons     - Disorders and injuries of your fingers and thumb


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

[User] Is bradyopsia inherited ?

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


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

[User] Who is at risk for Knee Replacement? ?

[Assistant] Because a fall can damage your new knee, making your home a safe place is crucial. Before your surgery, look for and correct hazards, including cluttered floors, loose electrical cords, unsecured rugs, and dark hallways. A raised toilet seat can make it easier to get up and down. Grab bars in the tub can keep you steady.


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

[User] What is (are) mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ?

[Assistant] Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia).  Most people with MELAS have a buildup of lactic acid in their bodies, a condition called lactic acidosis. Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. Less commonly, people with MELAS may experience involuntary muscle spasms (myoclonus), impaired muscle coordination (ataxia), hearing loss, heart and kidney problems, diabetes, and hormonal imbalances.


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

[User] What causes Mixed connective tissue disease ?

[Assistant] What causes mixed connective tissue disease? The exact underlying cause of mixed connective tissue disease (MCTD) is currently unknown. It is an autoimmune disorder, which means the immune system mistakes normal, healthy cells for those that that body should "fight off." There are ongoing studies exploring how immune system dysfunction may be involved in the development of this condition.


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[User] How to diagnose Stenotrophomonas maltophilia infection ?

[Assistant] How is Stenotrophomonas maltophilia infection diagnosed? Stenotrophomonas maltophilia (S. maltophilia) infection is usually diagnosed by examining a small sample of blood, mucus, and/or urine. When an infection is suspected, possible sites of infection including wounds, intravenous (vein) catheters, urinary catheters, and breathing machines should also be tested for the presence of S. maltophilia bacteria.


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

[User] What are the symptoms of Cerebellar degeneration ?

[Assistant] What are the signs and symptoms of cerebellar degeneration? Cerebellar degeneration is primarily characterized by a wide-legged, unsteady, lurching walk that is usually accompanied by a back and forth tremor in the trunk of the body. Other signs and symptoms may include slow, unsteady and jerky movement of the arms or legs; slowed and slurred speech; and nystagmus. Although cerebellar disorders usually strike adults in middle age, the age of symptomatic onset varies depending on the underlying cause of the degeneration. Studies have shown that many patients with movement disorders caused by damage to the cerebellum also have psychiatric symptoms. These studies suggest that patients with cerebellar diseases may benefit from screening and treatment of psychiatric disorders.


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[User] What are the treatments for Benign multicystic peritoneal mesothelioma ?

[Assistant] How might benign multicystic peritoneal mesothelioma be treated? Surgery to remove the cystic lesions is the only effective treatment for BMPM. Aggressive surgical approaches are often recommended. Hormonal therapy has also been attempted in individual cases with variable degrees of success. Most affected individuals do not undergo chemotherapy and/or radiotherapy because these tumors are usually benign.


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

[User] What are the treatments for Tietz syndrome ?

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


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

[User] What are the symptoms of Familial hemiplegic migraine type 3 ?

[Assistant] What are the signs and symptoms of Familial hemiplegic migraine type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine type 3. 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 movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% Autosomal dominant inheritance - Blindness - Hemiparesis - Hemiplegia - Migraine with aura - Photophobia - Seizures - 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 Mitral Valve Prolapse ?

[Assistant]
The exact cause of mitral valve prolapse (MVP) isn't known. Most people who have the condition are born with it. MVP tends to run in families. Also, it's more common in people who are born with connective tissue disorders, such as Marfan syndrome.

In people who have MVP, the mitral valve may be abnormal in the following ways:

The valve flaps may be too large and thick.

The valve flaps may be "floppy." The tissue of the flaps and their supporting "strings" are too stretchy, and parts of the valve flop or bulge back into the atrium.

The opening of the valve may stretch.

These problems can keep the valve from making a tight seal. Some people's valves are abnormal in more than one way.


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

[User] What causes Adrenal Insufficiency and Addison's Disease ?

[Assistant]
A lack of CRH or ACTH causes secondary adrenal insufficiency. The lack of these hormones in the body can be traced to several possible sources.

Stoppage of Corticosteroid Medication

A temporary form of secondary adrenal insufficiency may occur when a person who has been taking a synthetic glucocorticoid hormone, called a corticosteroid, for a long time stops taking the medication. Corticosteroids are often prescribed to treat inflammatory illnesses such as rheumatoid arthritis, asthma, and ulcerative colitis. In this case, the prescription doses often cause higher levels than those normally achieved by the glucocorticoid hormones created by the body. When a person takes corticosteroids for prolonged periods, the adrenal glands produce less of their natural hormones. Once the prescription doses of corticosteroid are stopped, the adrenal glands may be slow to restart their production of the bodys glucocorticoids. To give the adrenal glands time to regain function and prevent adrenal insufficiency, prescription corticosteroid doses should be reduced gradually over a period of weeks or even months. Even with gradual reduction, the adrenal glands might not begin to function normally for some time, so a person who has recently stopped taking prescription corticosteroids should be watched carefully for symptoms of secondary adrenal insufficiency.

Surgical Removal of Pituitary Tumors

Another cause of secondary adrenal insufficiency is surgical removal of the usually noncancerous, ACTH-producing tumors of the pituitary gland that cause Cushings syndrome. Cushings syndrome is a hormonal disorder caused by prolonged exposure of the bodys tissues to high levels of the hormone cortisol. When the tumors are removed, the source of extra ACTH is suddenly gone and a replacement hormone must be taken until the bodys adrenal glands are able to resume their normal production of cortisol. The adrenal glands might not begin to function normally for some time, so a person who has had an ACTH-producing tumor removed and is going off of his or her prescription corticosteroid replacement hormone should be watched carefully for symptoms of adrenal insufficiency.

More information is provided in the NIDDK health topic, Cushings Syndrome.

Changes in the Pituitary Gland

Less commonly, secondary adrenal insufficiency occurs when the pituitary gland either decreases in size or stops producing ACTH. These events can result from

- tumors or an infection in the pituitary   - loss of blood flow to the pituitary   - radiation for the treatment of pituitary or nearby tumors   - surgical removal of parts of the hypothalamus   - surgical removal of the pituitary


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

[User] Is Jacobsen syndrome inherited ?

[Assistant] Most cases of Jacobsen syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, although they can pass the chromosome deletion to their children.  Between 5 and 10 percent of people with Jacobsen syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which a segment from chromosome 11 has traded places with a segment from another chromosome. In a balanced translocation, no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation.  Children who inherit an unbalanced translocation can have a chromosomal rearrangement with some missing genetic material and some extra genetic material. Individuals with Jacobsen syndrome who inherit an unbalanced translocation are missing genetic material from the end of the long arm of chromosome 11 and have extra genetic material from another chromosome. These chromosomal changes result in the health problems characteristic of this disorder.


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

[User] What are the genetic changes related to familial erythrocytosis ?

[Assistant] Familial erythrocytosis can result from mutations in the EPOR, VHL, EGLN1, or EPAS1 gene. Researchers define four types of familial erythrocytosis, ECYT1 through ECYT4, based on which of these genes is altered.  The EPOR gene provides instructions for making a protein known as the erythropoietin receptor, which is found on the surface of certain blood-forming cells in the bone marrow. Erythropoietin is a hormone that directs the production of new red blood cells. Erythropoietin fits into the receptor like a key into a lock, triggering signaling pathways that lead to the formation of red blood cells. Mutations in the EPOR gene cause the erythropoietin receptor to be turned on for an abnormally long time after attaching to erythropoietin. The overactive receptor signals the production of red blood cells even when they are not needed, which results in an excess of these cells in the bloodstream. When familial erythrocytosis is caused by mutations in the EPOR gene, it is known as ECYT1.  The proteins produced from the VHL, EGLN1, and EPAS1 genes are also involved in red blood cell production; they each play a role in regulating erythropoietin. The protein produced from the EPAS1 gene is one component of a protein complex called hypoxia-inducible factor (HIF). When oxygen levels are lower than normal (hypoxia), HIF activates genes that help the body adapt, including the gene that provides instructions for making erythropoietin. Erythropoietin stimulates the production of more red blood cells to carry oxygen to organs and tissues. The proteins produced from the VHL and EGLN1 genes indirectly regulate erythropoietin by controlling the amount of available HIF. Mutations in any of these three genes can disrupt the regulation of red blood cell formation, leading to an overproduction of these cells. When familial erythrocytosis results from VHL gene mutations it is known as ECYT2; when the condition is caused by EGLN1 gene mutations it is called ECYT3; and when the condition results from EPAS1 gene mutations it is known as ECYT4.  Researchers have also described non-familial (acquired) forms of erythrocytosis. Causes of acquired erythrocytosis include long-term exposure to high altitude, chronic lung or heart disease, episodes in which breathing slows or stops for short periods during sleep (sleep apnea), and certain types of tumors. Another form of acquired erythrocytosis, called polycythemia vera, results from somatic (non-inherited) mutations in other genes involved in red blood cell production. In some cases, the cause of erythrocytosis is unknown.


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[User] How to diagnose Parasites - Ascariasis ?

[Assistant] The standard method for diagnosing ascariasis is by identifying Ascaris eggs in a stool sample using a microscope. Because eggs may be difficult to find in light infections, a concentration procedure is recommended.


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

[User] What is (are) Inflammatory myofibroblastic tumor ?

[Assistant] An inflammatory myofibroblastic tumor (IMT) is an uncommon, presumably benign (non-cancerous) tumor made up of cells called myofibroblastic spindle cells. It usually develops in children or young adults, but can affect people of any age. An IMT can occur in almost any part of the body but is most commonly found in the lung, orbit (eye socket), peritoneum (lining of the abdominal cavity and internal organs), and mesentery. Signs and symptoms vary depending on the site of the tumor. Some people with an IMT are asymptomatic, while others may have nonspecific respiratory symptoms, fever, or pain. IMTs may recur, and occasionally become locally invasive and/or spread (metastasize) to other parts of the body. The underlying cause of IMTs is poorly understood. Some cases have been linked to translocations involving the ALK gene. Treatment involves surgical removal when possible, although there are reports of treatment with oral steroids and radiation therapy.


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[User] What are the genetic changes related to CATSPER1-related nonsyndromic male infertility ?

[Assistant] Mutations in the CATSPER1 gene cause CATSPER1-related nonsyndromic male infertility. The CATSPER1 gene provides instructions for producing a protein that is found in the tail of sperm cells. The CATSPER1 protein is involved in the movement of the sperm tail, which propels the sperm forward and is required for sperm cells to push through the outside membrane of the egg cell during fertilization.  CATSPER1 gene mutations result in the production of a CATSPER1 protein that may be altered, nonfunctional, or quickly broken down (degraded) by the cell. Sperm cells missing a functional CATSPER1 protein have decreased motion in their tails and move more slowly than normal. Sperm cells lacking functional CATSPER1 protein cannot push through the outside membrane of the egg cell. As a result, sperm cells cannot reach the inside of the egg cell to achieve fertilization.


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

[User] What is (are) Abdominal Adhesions ?

[Assistant] The abdominal cavity is the internal area of the body between the chest and hips that contains the lower part of the esophagus, stomach, small intestine, and large intestine. The esophagus carries food and liquids from the mouth to the stomach, which slowly pumps them into the small and large intestines. Abdominal adhesions can kink, twist, or pull the small and large intestines out of place, causing an intestinal obstruction. Intestinal obstruction, also called a bowel obstruction, results in the partial or complete blockage of movement of food or stool through the intestines.


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[User] Is Knobloch syndrome inherited ?

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


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

[User] What is the outlook for Childhood Craniopharyngioma ?

[Assistant] Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following:          - The size of the tumor.    - Where the tumor is in the brain.    - Whether there are tumor cells left after surgery.    - The child's age.    -  Side effects that may occur months or years after treatment.    - Whether the tumor has just been diagnosed or has recurred (come back).


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

[User] What is the outlook for Spasticity ?

[Assistant] The prognosis for those with spasticity depends on the severity of the spasticity and the associated disorder(s).


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

[User] What are the treatments for Parasites - Schistosomiasis ?

[Assistant]
Safe and effective medication is available for treatment of both urinary and intestinal schistosomiasis. Praziquantel, a prescription medication, is taken for 1-2 days to treat infections caused by all Schistosoma species.

More on: Resources for Health Professionals: Treatment


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

[User] What is (are) Crouzonodermoskeletal syndrome ?

[Assistant] Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans.  The signs and symptoms of Crouzonodermoskeletal syndrome overlap with those of a similar condition called Crouzon syndrome. Common features include premature fusion of the skull bones, which affects the shape of the head and face; wide-set, bulging eyes due to shallow eye sockets; eyes that do not point in the same direction (strabismus); a small, beaked nose; and an underdeveloped upper jaw. People with Crouzon syndrome or Crouzonodermoskeletal syndrome usually have normal intelligence.  Several features distinguish Crouzonodermoskeletal syndrome from Crouzon syndrome. People with Crouzonodermoskeletal syndrome have acanthosis nigricans, a skin condition characterized by thick, dark, velvety skin in body folds and creases, including the neck and underarms. In addition, subtle changes may be seen in the bones of the spine (vertebrae) on x-rays. Noncancerous growths called cementomas may develop in the jaw during young adulthood.


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[User] How to diagnose Familial osteochondritis dissecans ?

[Assistant] How is osteochondritis dissecans diagnosed? A diagnosis of osteochondritis dissecans is usually suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. These test may include x-rays, magnetic resonance imaging (MRI) and/or computed tomography (CT scan). For more information about the diagnosis of osteochondritis dissecans, please click here.


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[User] How to prevent High Blood Pressure ?

[Assistant] Two key measures are used to determine if someone is overweight or obese. These are body mass index, or BMI, and waist circumference. Body mass index (BMI) is a measure of weight in relation to height, and provides an estimate of your total body fat. As your BMI goes up, so do your chances of getting high blood pressure, heart disease, and other health problems. A BMI -  below 18.5 is a sign that you are underweight.  - between 18.5 and 24.9 is in the healthy range.  - between 25 and 29.9 is considered overweight.  - of 30 or more is considered obese.  below 18.5 is a sign that you are underweight. between 18.5 and 24.9 is in the healthy range. between 25 and 29.9 is considered overweight. of 30 or more is considered obese. See the Body Mass Index Table, available from the National Heart, Lung, and Blood Institute (NHLBI). Body mass index (BMI) applies to both men and women, but it does have some limits. - It may overestimate body fat in in someone who is very muscular or who has swelling from fluid retention (called edema)  - It may underestimate body fat in older persons and others who have lost muscle mass. It may overestimate body fat in in someone who is very muscular or who has swelling from fluid retention (called edema) It may underestimate body fat in older persons and others who have lost muscle mass. Thats why waist measurement is often checked as well. Another reason is that too much body fat in the stomach area also increases disease risk. A waist measurement of more than 35 inches in women and more than 40 inches in men is considered high.


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[User] What is (are) Long QT syndrome 1 ?

[Assistant] Romano-Ward syndrome is the most common form of inherited long QT syndrome. Symptoms include arrhythmia, fainting, cardiac arrest, and sudden death. There are six different types of this syndrome, long QT 1 through 6. Each type is caused by a change in a different gene. The most prevalent form of long QT syndrome is long QT type 1. Long QT type 1 is caused by changes in the KCNQ1 gene. Romano-Ward syndrome is inherited in an autosomal dominant fashion.


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[User] what research (or clinical trials) is being done for Transitional Cell Cancer of the Renal Pelvis and Ureter ?

[Assistant]
New types of treatment are being tested in clinical trials.
                    This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI Web site.     Fulguration     Fulguration is a surgical procedure that destroys tissue using an electric current. A tool with a small wire loop on the end is used to remove the cancer or to burn away the tumor with electricity.       Segmental resection of the renal pelvis    This is a surgical procedure to remove localized cancer from the renal pelvis without removing the entire kidney. Segmental resection may be done to save kidney function when the other kidney is damaged or has already been removed.        Laser surgery    A laser beam (narrow beam of intense light) is used as a knife to remove the cancer. A laser beam can also be used to kill the cancer cells. This procedure may also be called or laser fulguration.       Regional chemotherapy and regional biologic therapy     Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. Biologic therapy is a treatment that uses the patient's immune system to fight cancer; substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. Regional treatment means the anticancer drugs or biologic substances are placed directly into an organ or a body cavity such as the abdomen, so the drugs will affect cancer cells in that area. Clinical trials are studying chemotherapy or biologic therapy using drugs placed directly into the renal pelvis or the ureter.

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

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


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[User] How many people are affected by Fukuyama congenital muscular dystrophy ?

[Assistant] Fukuyama congenital muscular dystrophy is seen almost exclusively in Japan, where it is the second most common form of childhood muscular dystrophy (after Duchenne muscular dystrophy). Fukuyama congenital muscular dystrophy has an estimated incidence of 2 to 4 per 100,000 Japanese infants.


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[User] What are the treatments for Autoimmune autonomic ganglionopathy ?

[Assistant] How might autoimmune autonomic ganglionopathy be treated? Since autoimmune autonomic ganglionopathy is so rare, no standard treatments have been established. Experts familiar with this condition often use plasma exchange or total plasmapheresis, intravenous immunoglobulin (IVIG), IV corticosteroids, or immunosuppressive drugs, such as Rituxan to treat the symptoms of the disease. A therapeutic trial for autoimmune autonomic ganglionopathy is currently being conducted by the Autonomic Disorders Consortium.


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[User] What is (are) cone-rod dystrophy ?

[Assistant] Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.  The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).  There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, or X-linked (each of which is described below). Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.


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[User] What are the treatments for Urinary Tract Infections in Children ?

[Assistant]
Some abnormalities in the urinary tract correct themselves as the child grows, but some may require surgical correction. While milder forms of VUR may resolve on their own, one common procedure to correct VUR is the reimplantation of the ureters. During this procedure, the surgeon repositions the connection between the ureters and the bladder so that urine will not reflux into the ureters and kidneys. This procedure may be performed through an incision that gives the surgeon a direct view of the bladder and ureters or laparoscopically. Laparoscopy is a procedure that uses a scope inserted through a small incision.

In recent years, health care providers have treated some cases of VUR by injecting substances into the bladder wall, just below the opening where the ureter joins the bladder. This injection creates a kind of narrowing or valve that keeps urine from refluxing into the ureters. The injection is delivered to the inside of the bladder through a catheter passed through the urethra, so there is no surgical incision. Evidence of clinically significant obstruction may indicate the need for surgery.


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[User] What is (are) Gonorrhea ?

[Assistant] Gonorrhea is a sexually transmitted disease. It is most common in young adults. The bacteria that cause gonorrhea can infect the genital tract, mouth, or anus. You can get gonorrhea during vaginal, oral, or anal sex with an infected partner. A pregnant woman can pass it to her baby during childbirth.    Gonorrhea does not always cause symptoms. In men, gonorrhea can cause pain when urinating and discharge from the penis. If untreated, it can cause problems with the prostate and testicles.    In women, the early symptoms of gonorrhea often are mild. Later, it can cause bleeding between periods, pain when urinating, and increased discharge from the vagina. If untreated, it can lead to pelvic inflammatory disease, which causes problems with pregnancy and infertility.    Your health care provider will diagnose gonorrhea with lab tests. Treatment is with antibiotics. Treating gonorrhea is becoming more difficult because drug-resistant strains are increasing. Correct usage of latex condoms greatly reduces, but does not eliminate, the risk of catching or spreading gonorrhea.    NIH: National Institute of Allergy and Infectious Diseases


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[User] How to diagnose Peripheral Artery Disease ?

[Assistant]
Peripheral artery disease (P.A.D.) is diagnosed based on your medical and family histories, a physical exam, and test results.

P.A.D. often is diagnosed after symptoms are reported. A correct diagnosis is important because people who have P.A.D. are at higher risk for coronary heart disease (CHD), heart attack, stroke, and transient ischemic attack ("mini-stroke"). If you have P.A.D., your doctor also may want to check for signs of these diseases and conditions.

Specialists Involved

Primary care doctors, such as internists and family doctors, may treat people who have mild P.A.D. For more advanced P.A.D., a vascular specialist may be involved. This is a doctor who specializes in treating blood vessel diseases and conditions.

A cardiologist also may be involved in treating people who have P.A.D. Cardiologists treat heart problems, such as CHD and heart attack, which often affect people who have P.A.D.

Medical and Family Histories

Your doctor may ask:

Whether you have any risk factors for P.A.D. For example, he or she may ask whether you smoke or have diabetes.

About your symptoms, including any symptoms that occur when walking, exercising, sitting, standing, or climbing.

About your diet.

About any medicines you take, including prescription and over-the-counter medicines.

Whether anyone in your family has a history of heart or blood vessel diseases.

Physical Exam

During the physical exam, your doctor will look for signs of P.A.D. He or she may check the blood flow in your legs or feet to see whether you have weak or absent pulses.

Your doctor also may check the pulses in your leg arteries for an abnormal whooshing sound called a bruit. He or she can hear this sound with a stethoscope. A bruit may be a warning sign of a narrowed or blocked artery.

Your doctor may compare blood pressure between your limbs to see whether the pressure is lower in the affected limb. He or she also may check for poor wound healing or any changes in your hair, skin, or nails that may be signs of P.A.D.

Diagnostic Tests

Ankle-Brachial Index

A simple test called an ankle-brachial index (ABI) often is used to diagnose P.A.D. The ABI compares blood pressure in your ankle to blood pressure in your arm. This test shows how well blood is flowing in your limbs.

ABI can show whether P.A.D. is affecting your limbs, but it won't show which blood vessels are narrowed or blocked.

A normal ABI result is 1.0 or greater (with a range of 0.90 to 1.30). The test takes about 10 to 15 minutes to measure both arms and both ankles. This test may be done yearly to see whether P.A.D. is getting worse.

Ankle-Brachial Index

Doppler Ultrasound

A Doppler ultrasound looks at blood flow in the major arteries and veins in the limbs. During this test, a handheld device is placed on your body and passed back and forth over the affected area. A computer converts sound waves into a picture of blood flow in the arteries and veins.

The results of this test can show whether a blood vessel is blocked. The results also can help show the severity of P.A.D.

Treadmill Test

A treadmill test can show the severity of symptoms and the level of exercise that brings them on. You'll walk on a treadmill for this test. This shows whether you have any problems during normal walking.

You may have an ABI test before and after the treadmill test. This will help compare blood flow in your arms and legs before and after exercise.

Magnetic Resonance Angiogram

A magnetic resonance angiogram (MRA) uses magnetic and radio wave energy to take pictures of your blood vessels. This test is a type of magnetic resonance imaging (MRI).

An MRA can show the location and severity of a blocked blood vessel. If you have a pacemaker, man-made joint, stent, surgical clips, mechanical heart valve, or other metallic devices in your body, you might not be able to have an MRA. Ask your doctor whether an MRA is an option for you.

Arteriogram

An arteriogram provides a "road map" of the arteries. Doctors use this test to find the exact location of a blocked artery.

For this test, dye is injected through a needle or catheter (tube) into one of your arteries. This may make you feel mildly flushed. After the dye is injected, an x ray is taken. The xray can show the location, type, and extent of the blockage in the artery.

Some doctors use a newer method of arteriogram that uses tiny ultrasound cameras. These cameras take pictures of the insides of the blood vessels. This method is called intravascular ultrasound.

Blood Tests

Your doctor may recommend blood tests to check for P.A.D. risk factors. For example, blood tests can help diagnose conditions such as diabetes and high blood cholesterol.


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[User] What are the treatments for phenylketonuria ?

[Assistant] These resources address the diagnosis or management of phenylketonuria:  - Baby's First Test  - Gene Review: Gene Review: Phenylalanine Hydroxylase Deficiency  - Genetic Testing Registry: Phenylketonuria  - MedlinePlus Encyclopedia: Phenylketonuria  - MedlinePlus Encyclopedia: Serum Phenylalanine Screening   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) Renal Artery Stenosis ?

[Assistant]
Renal artery stenosis is the narrowing of one or both renal arteries. Renal means kidney and stenosis means narrowing. The renal arteries are blood vessels that carry blood to the kidneys from the aortathe main blood vessel that carries blood from the heart to arteries throughout the body.

RVH is high blood pressure caused by RAS. Blood pressure is written with two numbers separated by a slash, 120/80, and is said as 120 over 80. The top number is called the systolic pressure and represents the pressure as the heart beats and pushes blood through the blood vessels. The bottom number is called the diastolic pressure and represents the pressure as blood vessels relax between heartbeats. A persons blood pressure is considered normal if it stays at or below 120/80. High blood pressure is a systolic pressure of 140 or above or a diastolic pressure of 90 or above.1


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[User] How to diagnose Adult Primary Liver Cancer ?

[Assistant] Tests that examine the liver and the blood are used to detect (find) and diagnose adult primary liver cancer. The following tests and procedures may be used:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken.     -   Serum tumor marker test : A procedure in which a sample of blood is examined to measure the amounts of certain substances released into the blood by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the blood. These are called tumor markers. An increased level of alpha-fetoprotein (AFP) in the blood may be a sign of liver cancer. Other cancers and certain noncancerous conditions, including cirrhosis and hepatitis, may also increase AFP levels. Sometimes the AFP level is normal even when there is liver cancer.    -   Liver function tests : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by the liver. A higher than normal amount of a substance can be a sign of liver cancer.    -   CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. Images may be taken at three different times after the dye is injected, to get the best picture of abnormal areas in the liver. This is called triple-phase CT. A spiral or helical CT scan makes a series of very detailed pictures of areas inside the body using an x-ray machine that scans the body in a spiral path.    -   MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the liver. This procedure is also called nuclear magnetic resonance imaging (NMRI). To create detailed pictures of blood vessels in and near the liver, dye is injected into a vein. This procedure is called MRA (magnetic resonance angiography). Images may be taken at three different times after the dye is injected, to get the best picture of abnormal areas in the liver. This is called triple-phase MRI.    -   Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later.     -   Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. Procedures used to collect the sample of cells or tissues include the following:               -  Fine-needle aspiration biopsy : The removal of cells, tissue or fluid using a thin needle.      -  Core needle biopsy : The removal of cells or tissue using a slightly wider needle.      -  Laparoscopy : A surgical procedure to look at the organs inside the abdomen to check for signs of disease. Small incisions (cuts) are made in the wall of the abdomen and a laparoscope (a thin, lighted tube) is inserted into one of the incisions. Another instrument is inserted through the same or another incision to remove the tissue samples.          A biopsy is not always needed to diagnose adult primary liver cancer.


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[User] What are the treatments for 22q11.2 deletion syndrome ?

[Assistant] These resources address the diagnosis or management of 22q11.2 deletion syndrome:  - Gene Review: Gene Review: 22q11.2 Deletion Syndrome  - Genetic Testing Registry: Asymmetric crying face association  - Genetic Testing Registry: DiGeorge sequence  - Genetic Testing Registry: Opitz G/BBB syndrome  - Genetic Testing Registry: Shprintzen syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What is (are) Fetal retinoid syndrome ?

[Assistant] Fetal retinoid syndrome is a characteristic pattern of physical and mental birth defects that results from maternal use of retinoids during pregnancy. The most well known retinoid is isotretinoin (Accutane), a drug used to treat severe cystic acne. Birth defects associated with fetal retinoid syndrome include: hydrocephalus, microcephaly, intellectual disabilities, ear and eye abnormalities, cleft palate and other facial differences, and heart defects. Isotretinoin can cause these birth defects in the early weeks of pregnancy, even before a woman knows that she is pregnant.


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[User] How many people are affected by myoclonic epilepsy myopathy sensory ataxia ?

[Assistant] The prevalence of myoclonic epilepsy myopathy sensory ataxia is unknown.


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

[Assistant] Rearrangements of genetic material involving the CYP19A1 gene cause aromatase excess syndrome. The CYP19A1 gene provides instructions for making an enzyme called aromatase. This enzyme converts a class of hormones called androgens, which are involved in male sexual development, to different forms of estrogen. In females, estrogen guides female sexual development before birth and during puberty. In both males and females, estrogen plays a role in regulating bone growth.  The condition can result from several types of genetic rearrangements involving the CYP19A1 gene. These rearrangements alter the activity of the gene and lead to an increase in aromatase production. In affected males, the increased aromatase and subsequent conversion of androgens to estrogen are responsible for the gynecomastia and limited bone growth characteristic of aromatase excess syndrome. Increased estrogen in females can cause symptoms such as irregular menstrual periods and short stature.


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[User] What are the treatments for Pseudopelade of Brocq ?

[Assistant] Is there treatment or a cure for pseudopelade of Brocq? Neither an effective treatment nor cure has been identified for pseudopelade of Brocq.  Unfortunately, even when treatment relieves the symptoms and signs, the progression of hair loss may continue. The choice of treatment prescribed varies from person to person and depends mainly on the activity, extent of the disease and patient's tolerance to the treatment. Various forms of corticosteroids have been tried, including injections or skin lotions or creams. Surgery such as hair transplant or scalp reduction might be considered in patients whose condition has remained stable for two or more years.


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[User] Is adenine phosphoribosyltransferase deficiency inherited ?

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


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[User] What are the treatments for Sialadenitis ?

[Assistant] How might sialadenitis be treated? The initial treatment for sialadenitis is antibiotics active against S. aureus. Hydration, ingesting things that trigger saliva flow (such as lemon juice or hard candy), warm compresses, gland massage, and good oral hygiene are also important. Abscesses need to be drained. Occasionally, in cases of chronic or relapsing sialadenitis, a superficial parotidectomy or submandibular gland excision is needed.


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[User] What are the symptoms of Primary Myelofibrosis ?

[Assistant] Symptoms of primary myelofibrosis include pain below the ribs on the left side and feeling very tired. Primary myelofibrosis often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may be caused by primary myelofibrosis or by other conditions. Check with your doctor if you have any of the following:         - Feeling pain or fullness below the ribs on the left side.    - Feeling full sooner than normal when eating.    - Feeling very tired.    - Shortness of breath.    - Easy bruising or bleeding.    -  Petechiae (flat, red, pinpoint spots under the skin that are caused by bleeding).    -  Fever.    - Night sweats.    - Weight loss.


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[User] What are the treatments for SADDAN ?

[Assistant] These resources address the diagnosis or management of SADDAN:  - Gene Review: Gene Review: Achondroplasia  - Genetic Testing Registry: Severe achondroplasia with developmental delay and acanthosis nigricans  - MedlinePlus Encyclopedia: Acanthosis Nigricans   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 genetic changes related to familial porencephaly ?

[Assistant] Mutations in the COL4A1 gene cause familial porencephaly. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main components of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature).  The COL4A1 gene mutations that cause familial porencephaly result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Basement membranes without normal type IV collagen are unstable, leading to weakening of the tissues that they surround. In people with familial porencephaly, the vasculature in the brain weakens, which can lead to blood vessel breakage and hemorrhagic stroke. Bleeding within the brain is followed by the formation of fluid-filled cysts characteristic of this condition. It is thought that the pressure and stress on the head during birth contributes to vessel breakage in people with this condition; however in some individuals, bleeding in the brain can occur before birth.


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[User] How many people are affected by cap myopathy ?

[Assistant] Cap myopathy is a rare disorder that has been identified in only a small number of individuals. Its exact prevalence is unknown.


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[User] How many people are affected by collagen VI-related myopathy ?

[Assistant] Collagen VI-related myopathy is rare. Bethlem myopathy is estimated to occur in 0.77 per 100,000 individuals, and Ullrich congenital muscular dystrophy is estimated to occur in 0.13 per 100,000 individuals. Only a few cases of the intermediate form have been described in the scientific literature.


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[User] What are the treatments for Wallenberg's Syndrome ?

[Assistant] Treatment for Wallenberg's syndrome is symptomatic. A feeding tube may be necessary if swallowing is very difficult. Speech/swallowing therapy may be beneficial. In some cases, medication may be used to reduce or eliminate pain. Some doctors report that the anti-epileptic drug gabapentin appears to be an effective medication for individuals with chronic pain.


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

[Assistant] Mutations in at least two genes on the X chromosome are thought to be responsible for Lenz microphthalmia syndrome. Only one of these genes, BCOR, has been identified.  The BCOR gene provides instructions for making a protein called the BCL6 corepressor. This protein helps regulate the activity of other genes. Little is known about the protein's function, although it appears to play an important role in early embryonic development. A mutation in the BCOR gene has been found in one family with Lenz microphthalmia syndrome. This mutation changes the structure of the BCL6 corepressor protein, which disrupts the normal development of the eyes and several other organs and tissues before birth.  Researchers are working to determine whether Lenz microphthalmia syndrome is a single disorder with different genetic causes or two very similar disorders, each caused by mutations in a different gene. They are searching for a second gene on the X chromosome that may underlie additional cases of the disorder.