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[User] What is (are) C1q deficiency ?

[Assistant] C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a protein and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a  procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.


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[User] How many people are affected by ALG1-congenital disorder of glycosylation ?

[Assistant] ALG1-CDG appears to be a rare disorder; fewer than 30 affected individuals have been described in the scientific literature.


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[User] What are the symptoms of Oculodentodigital dysplasia ?

[Assistant] What are the signs and symptoms of Oculodentodigital dysplasia? Individuals with oculodentodigital dysplasia commonly have small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. They also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features of this condition include a thin nose and webbing of the skin (syndactyly) between the fourth and fifth fingers. Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis), brittle nails, an unusual curvature of the fingers (camptodactyly), syndactyly of the toes, small head size (microcephaly), and an opening in the roof of the mouth (cleft palate). Some affected individuals experience neurological problems such as a lack of bladder or bowel control, difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), hearing loss, and impaired speech (dysarthria). A few people with oculodentodigital dysplasia also have a skin condition called palmoplantar keratoderma. Palmoplantar keratoderma causes the skin on the palms and the soles of the feet to become thick, scaly, and calloused. Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age. The Human Phenotype Ontology provides the following list of signs and symptoms for Oculodentodigital 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) Abnormality of dental enamel 90% Anteverted nares 90% Broad columella 90% Camptodactyly of finger 90% Carious teeth 90% Cleft palate 90% Clinodactyly of the 5th finger 90% Finger syndactyly 90% Microcornea 90% Narrow nasal bridge 90% Premature loss of primary teeth 90% Reduced number of teeth 90% Toe syndactyly 90% Underdeveloped nasal alae 90% Abnormal cortical bone morphology 50% Abnormal hair quantity 50% Abnormality of the fingernails 50% Abnormality of the metaphyses 50% Abnormality of the urinary system 50% Aplasia/Hypoplasia of the cerebellum 50% Broad alveolar ridges 50% Cataract 50% Cerebral calcification 50% Cognitive impairment 50% Conductive hearing impairment 50% Craniofacial hyperostosis 50% External ear malformation 50% Gait disturbance 50% Glaucoma 50% Hemiplegia/hemiparesis 50% High forehead 50% Hypermetropia 50% Hyperreflexia 50% Hypertelorism 50% Hypertonia 50% Hypotelorism 50% Incoordination 50% Mandibular prognathia 50% Median cleft lip 50% Muscle weakness 50% Myopia 50% Neurological speech impairment 50% Optic atrophy 50% Seizures 50% Short nose 50% Slow-growing hair 50% Visual impairment 50% Abnormal diaphysis morphology 7.5% Abnormal form of the vertebral bodies 7.5% Abnormality of the clavicle 7.5% Aplasia/Hypoplasia of the iris 7.5% Arrhythmia 7.5% Blepharophimosis 7.5% Brachydactyly syndrome 7.5% Deeply set eye 7.5% Epicanthus 7.5% Fine hair 7.5% Hypoglycemia 7.5% Madelung deformity 7.5% Non-midline cleft lip 7.5% Nystagmus 7.5% Palmoplantar keratoderma 7.5% Preaxial hand polydactyly 7.5% Short hallux 7.5% Strabismus 7.5% Taurodontia 7.5% Umbilical hernia 7.5% Upslanted palpebral fissure 7.5% Ventricular septal defect 7.5% Abnormality of the pinna 5% Atria septal defect 5% Neurogenic bladder 5% 3-4 toe syndactyly - 4-5 finger syndactyly - Ataxia - Autosomal dominant inheritance - Basal ganglia calcification - Cleft upper lip - Clinodactyly - Cubitus valgus - Dry hair - Dysarthria - Fragile nails - Hip dislocation - Hyperactive deep tendon reflexes - Hypoplasia of dental enamel - Intellectual disability - Joint contracture of the 5th finger - Microcephaly - Microdontia - Microphthalmia - Paraparesis - Premature loss of teeth - Selective tooth agenesis - Short middle phalanx of the 5th finger - Short palpebral fissure - Sparse hair - Spasticity - Tetraparesis - Thin anteverted nares - Vertebral hyperostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Chromosome 8p deletion ?

[Assistant] Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


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[User] Is epidermolysis bullosa simplex inherited ?

[Assistant] Epidermolysis bullosa simplex is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected people inherit the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.  In rare cases, epidermolysis bullosa simplex is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means the condition results when two copies of the gene in each cell are altered. The parents of an individual with an autosomal recessive disorder typically each carry one copy of the altered gene, but do not show signs and symptoms of the disorder.


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[User] What to do for What I need to know about Crohn's Disease ?

[Assistant]
Your health care provider may start you on a special diet, so you get extra nutrition and calories. High-calorie liquid supplements are often used to give you the extra calories and right amount of vitamins and minerals to keep you healthy. During acute phases of the disease, you may need to receive intravenous nutrition to give the intestine a rest.

No foods are known to cause injury or inflammation to the intestine. But foods such as hot spices, alcohol, greasy foods, and milk products may make diarrhea and cramping worse. You should eat a healthy diet and avoid foods that make symptoms worse. Your health care provider may refer you to a dietitian to help you with meal planning.


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[User] Is tibial muscular dystrophy 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 congenital deafness with labyrinthine aplasia, microtia, and microdontia ?

[Assistant] These resources address the diagnosis or management of LAMM syndrome:  - Gene Review: Gene Review: Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia  - Genetic Testing Registry: Deafness with labyrinthine aplasia microtia and microdontia (LAMM)   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 Tuberous sclerosis, type 1 ?

[Assistant] What are the signs and symptoms of Tuberous sclerosis, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tuberous sclerosis, type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 30% Abnormality of the respiratory system - Achromatic retinal patches - Astrocytoma - Attention deficit hyperactivity disorder - Autism - Autosomal dominant inheritance - Cafe-au-lait spot - Cerebral calcification - Chordoma - Dental enamel pits - Ependymoma - Gingival fibromatosis - Hypomelanotic macule - Hypothyroidism - Infantile spasms - Optic glioma - Phenotypic variability - Precocious puberty - Premature chromatid separation - Projection of scalp hair onto lateral cheek - Renal angiomyolipoma - Renal cell carcinoma - Renal cyst - Shagreen patch - Specific learning disability - Subcutaneous nodule - Subependymal nodules - Subungual fibromas - Wolff-Parkinson-White syndrome - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Squamous cell carcinoma ?

[Assistant] Squamous cell carcinoma (SCC) is the second most common skin cancer. SCC most often affects individuals who are exposed to large amounts of sunlight. It is typically characterized by a red papule or plaque with a scaly or crusted surface; it may be suspected whenever a small, firm reddish-colored skin lesion, growth or bump appears on the skin, but it may also be a flat growth with a curly and crusted surface. Most often these growths are located on the face, ears, neck, hands and/or arms, but they may occur on the lips, mouth, tongue, genitalia or other area. The most common causes of SCC are radiation from the sun and arsenic exposure. With appropriate treatment, it is usually curable.


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[User] What are the treatments for alpha-methylacyl-CoA racemase deficiency ?

[Assistant] These resources address the diagnosis or management of AMACR deficiency:  - Genetic Testing Registry: Alpha-methylacyl-CoA racemase deficiency  - Kennedy Krieger Institute: Peroxisomal Diseases   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] Who is at risk for High Blood Pressure? ?

[Assistant]
Anyone can develop high blood pressure; however, age, race or ethnicity, being overweight, gender, lifestyle habits, and a family history of high blood pressure can increase your risk for developing high blood pressure.

Age

Blood pressure tends to rise with age. About 65 percent of Americans age 60 or older have high blood pressure. However, the risk for prehypertension and high blood pressure is increasing for children and teens, possibly due to the rise in the number of overweight children and teens.

Race/Ethnicity

High blood pressure is more common in African American adults than in Caucasian or Hispanic American adults. Compared with these ethnic groups, African Americans:

Tend to get high blood pressure earlier in life.

Often, on average, have higher blood pressure numbers.

Are less likely to achieve target blood pressure goals with treatment.

Overweight

You are more likely to develop prehypertension or high blood pressure if youre overweight or obese. The terms overweight and obese refer to body weight thats greater than what is considered healthy for a certain height.

Gender

Before age 55, men are more likely than women to develop high blood pressure. After age 55, women are more likely than men to develop high blood pressure.

Lifestyle Habits

Unhealthy lifestyle habits can raise your risk for high blood pressure, and they include:

Eating too much sodium or too little potassium

Lack of physical activity

Drinking too much alcohol

Stress

Family History

A family history of high blood pressure raises the risk of developing prehypertension or high blood pressure. Some people have a high sensitivity to sodium and salt, which may increase their risk for high blood pressure and may run in families. Genetic causes of this condition are why family history is a risk factor for this condition.


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[User] What are the symptoms of Lipodystrophy, familial partial, type 2 ?

[Assistant] What are the signs and symptoms of Lipodystrophy, familial partial, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipodystrophy, familial partial, type 2. 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 lipid metabolism 90% Diabetes mellitus 90% Hepatomegaly 90% Insulin resistance 90% Lipoatrophy 90% Multiple lipomas 90% Round face 90% Skeletal muscle hypertrophy 90% Acute pancreatitis 75% Abnormality of the nail 50% Advanced eruption of teeth 50% Secondary amenorrhea 50% Thin skin 50% Abnormality of complement system 7.5% Acanthosis nigricans 7.5% Cellulitis 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Glomerulopathy 7.5% Hepatic steatosis 7.5% Hypertrichosis 7.5% Hypertrophic cardiomyopathy 7.5% Myalgia 7.5% Myopathy 7.5% Polycystic ovaries 7.5% Splenomegaly 7.5% Toxemia of pregnancy 7.5% Adipose tissue loss - Atherosclerosis - Autosomal dominant inheritance - Decreased subcutaneous fat - Enlarged peripheral nerve - Hirsutism - Hyperglycemia - Hyperinsulinemia - Hypertension - Hypertriglyceridemia - Hypoalphalipoproteinemia - Increased adipose tissue around the neck - Increased facial adipose tissue - Increased intraabdominal fat - Increased intramuscular fat - Insulin-resistant diabetes mellitus - Labial pseudohypertrophy - Loss of subcutaneous adipose tissue in limbs - Loss of truncal subcutaneous adipose tissue - Prominent superficial veins - Xanthomatosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Costello syndrome ?

[Assistant] Costello syndrome is a disorder that affects many parts of the body. This condition is characterized by delayed development and intellectual disability, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, and distinctive facial features including a large mouth. Heart problems are common, including an abnormal heartbeat (arrhythmia), structural heart defects, and a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be larger than average at birth, but most have difficulty feeding and grow more slowly than other children. People with this condition have relatively short stature and may have reduced growth hormone levels. Other signs and symptoms of Costello syndrome can include tight Achilles tendons (which connect the calf muscles to the heel), weak muscle tone (hypotonia), a structural abnormality of the brain called a Chiari I malformation, skeletal abnormalities, dental problems, and problems with vision.  Beginning in early childhood, people with Costello syndrome are at an increased risk of developing certain cancerous and noncancerous tumors. The most common noncancerous tumors associated with this condition are papillomas, which are small, wart-like growths that usually develop around the nose and mouth or near the anus. The most common cancerous tumor associated with Costello syndrome is a childhood cancer called rhabdomyosarcoma, which begins in muscle tissue. Neuroblastoma, a tumor that arises in developing nerve cells, also has been reported in children and adolescents with this syndrome. In addition, some teenagers with Costello syndrome have developed transitional cell carcinoma, a form of bladder cancer that is usually seen in older adults.  The signs and symptoms of Costello syndrome overlap significantly with those of two other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome. In affected infants, it can be difficult to tell the three conditions apart based on their physical features. However, the conditions can be distinguished by their genetic cause and by specific patterns of signs and symptoms that develop later in childhood.


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[User] How to diagnose What I need to know about Crohn's Disease ?

[Assistant]
A doctor will perform a physical exam and tests to diagnose Crohns disease. During your visit, the doctor will ask about your symptoms and medical history.

The doctor may order blood tests, which involve drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. Blood tests can show anemia caused by bleeding. Anemia is a condition in which red blood cells are fewer or smaller than normal, which means less oxygen is carried to the bodys cells. Blood tests can also show a high white blood cell count, a sign of chronic inflammation.

You may also be asked for a stool sample. A stool test is commonly used to rule out other causes of GI diseases, such as infections. The doctor will give you a container for catching and storing the stool. The sample is returned to the doctor or a commercial facility and sent to a lab for analysis. A stool sample can also be used to check if you have bleeding or inflammation.

Other tests may be needed to diagnose Crohn's disease. The following tests are all performed at a hospital or outpatient center.

- Colonoscopy. Colonoscopy is the most commonly used test to specifically diagnose Crohns disease. This test is used to look inside your rectum, entire colon, and ileum. The health care provider will give you written bowel prep instructions to follow at home before the test. You may need to follow a clear liquid diet for 1 to 3 days before the test. You will need to take laxatives and enemas the evening before the test, and you will likely have one or more enemas about 2 hours before the test. A laxative is medicine that loosens stool and increases bowel movements. An enema involves flushing water, laxative, or sometimes a mild soap solution into the anus using a special squirt bottle.  For the test, you will lie on a table while the doctor inserts a flexible tube into your anus. A small camera on the tube sends a video image of the intestinal lining to a computer screen. The doctor can see inflammation, ulcers, or bleeding. The doctor may also perform a biopsy. The doctor will look at the tissue with a microscope to confirm the diagnosis of Crohns disease. In most cases, youll be given a light sedative, and possibly pain medicine, to help you relax. You will not feel the biopsy.  Cramping or bloating may occur during the first hour after the test. Driving is not permitted for 24 hours after the test to allow the sedative time to wear off. Before the appointment, you should make plans for a ride home. By the next day, you should fully recover and go back to your normal diet.    - Flexible sigmoidoscopy. This test is used to look inside the rectum and lower colon. The health care provider will give you written bowel prep instructions to follow at home before the test. You may need to follow a clear liquid diet for 1 to 3 days before the test. You may also need a laxative or enema the night before the test. And youll have one or more enemas about 2 hours before the procedure.  For the test, you will lie on a table while the doctor inserts a flexible tube into your anus. You will not need a sedative for the test. A small camera on the tube sends a video image of the intestinal lining to a computer screen. The doctor can see inflammation, ulcers, or bleeding. The doctor may also perform a biopsy by snipping a bit of tissue from the intestinal lining. The doctor will look at the tissue with a microscope to confirm the diagnosis of Crohns disease. You will not feel the biopsy.  You can usually go back to your normal diet after the test, though you may have cramping or bloating during the first hour after the test.    - Computerized tomography (CT) scan. A CT scan uses x rays and computers to create images of the inside of the body. For the test, you will lie on a table that slides into a tunnel-shaped device where the x rays are taken. The technician may give you a solution to drink and an injection of a special dye through a needle inserted into an arm vein. You will not need a sedative for the test. CT scans can be used to help diagnose Crohn's disease.    - Upper GI series (x rays). An upper GI series may be done to look at the small intestine. No eating or drinking is allowed for 8 hours before the procedure. You will not need a sedative for the test. During the procedure, you will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. The barium coats the small intestine, making signs of the disease show up more clearly on x rays.  After the test, you may go back to your normal diet, though you may have nausea or bloating for a short time. Traces of barium in the GI tract cause stools to be white or light colored for a few days after the test.    - Lower GI series (x rays). A lower GI series may be done to look at the large intestine. The health care provider will give you written bowel prep instructions to follow at home before the test. You will be asked to follow a clear liquid diet for 1 to 3 days before the test. A laxative or enema is usually used the evening before a lower GI series. Enemas are sometimes repeated the morning of the test.  For the test, you will lie on a table while the doctor inserts a flexible tube into your anus. You will not need a sedative for the test. The large intestine is filled with barium, making signs of the disease show up more clearly on x rays. After the test, you may go back to your normal diet, though you may have bloating. You also may have some soreness of the anus. Traces of barium in the GI tract cause stools to be white or light colored for a few days after the test.


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[User] What are the treatments for steatocystoma multiplex ?

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


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[User] What are the treatments for Nodular nonsuppurative panniculitis ?

[Assistant] How might nodular nonsuppurative panniculitis be treated? Treatment for nodular nonsuppurative panniculitis (NNP) generally aims at controlling and relieving the symptoms that an individual has. Before treatment is initiated, a work-up should be completed to determine whether the condition is secondary to another underlying disorder. If there is an underlying disorder, treatment of this disorder may relieve the symptoms of NNP. In some cases, skin lesions heal spontaneously (remission) but the lesions often later return. There is no treatment method found to be effective for all individuals with NNP. Medications used to treat the condition may include systemic steroids (such as prednisone) to suppress sudden attacks; nonsteroidal anti-inflammatory drugs (NSAIDs) to reduce fever and other signs of malaise; and/or immunosuppressive drugs. Relief of symptoms in some affected individuals has also been reported with fibrinolytic agents (medications that help prevent blood clots), hydroxychloroquine, azathioprine, thalidomide, cyclophosphamide, tetracycline, cyclosporin, mycophenolate, and clofazimine. More detailed information about the management of nodular nonsuppurative panniculitis is available on the Treatment and Medication sections of the Medscape Reference Web site.


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[User] What are the treatments for Jacobsen syndrome ?

[Assistant] These resources address the diagnosis or management of Jacobsen syndrome:  - 11q Research & Resource Group: Concerns and Recommendations  - Genetic Testing Registry: 11q partial monosomy syndrome  - Unique: Chromosome 11q Deletion Disorder: Jacobsen 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 are the symptoms of Short Bowel Syndrome ?

[Assistant]
People who have any signs or symptoms of severe dehydration should call or see a health care provider right away:

- excessive thirst  - dark-colored urine  - infrequent urination  - lethargy, dizziness, or faintness  - dry skin

Infants and children are most likely to become dehydrated. Parents or caretakers should watch for the following signs and symptoms of dehydration:

- dry mouth and tongue  - lack of tears when crying  - infants with no wet diapers for 3 hours or more  - infants with a sunken soft spot  - unusually cranky or drowsy behavior  - sunken eyes or cheeks  - fever

If left untreated, severe dehydration can cause serious health problems:

- organ damage  - shockwhen low blood pressure prevents blood and oxygen from getting to organs  - comaa sleeplike state in which a person is not conscious


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[User] What are the treatments for Paget's Disease of Bone ?

[Assistant] Yes. Some complications from Paget's disease respond well to surgery. Joint replacement may be helpful in people with severe arthritis of the hip or knee. Surgery can also realign affected leg bones to reduce pain or help broken bones heal in a better position.


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[User] What is (are) Glaucoma ?

[Assistant] Open-angle glaucoma is the most common form of glaucoma. In the normal eye, the clear fluid leaves the anterior chamber at the open angle where the cornea and iris meet. When the fluid reaches the angle, it flows through a spongy meshwork, like a drain, and leaves the eye. Sometimes, when the fluid reaches the angle, it passes too slowly through the meshwork drain, causing the pressure inside the eye to build. If the pressure damages the optic nerve, open-angle glaucoma -- and vision loss -- may result.


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[User] What are the symptoms of Muscle eye brain disease ?

[Assistant] What are the signs and symptoms of Muscle eye brain disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscle eye brain disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% EEG abnormality 90% EMG abnormality 90% Gait disturbance 90% Glaucoma 90% Hydrocephalus 90% Myopathy 90% Myopia 90% Neurological speech impairment 90% Optic atrophy 90% Strabismus 90% Visual impairment 90% Abnormality of the voice 50% Cataract 50% Hypertonia 50% Muscular hypotonia 50% Seizures 50% Aplasia/Hypoplasia of the cerebellum 7.5% Hemiplegia/hemiparesis 7.5% Holoprosencephaly 7.5% Meningocele 7.5% Autosomal recessive inheritance - Buphthalmos - Cerebellar cyst - Cerebellar dysplasia - Cerebellar hypoplasia - Coloboma - Congenital myopia - Congenital onset - Decreased light- and dark-adapted electroretinogram amplitude - Elevated serum creatine phosphokinase - Enlarged flash visual evoked potentials - Generalized hypotonia - Generalized muscle weakness - Heterogeneous - Hypoplasia of midface - Hypoplasia of the brainstem - Hypoplasia of the retina - Intellectual disability, profound - Intellectual disability, severe - Malar flattening - Megalocornea - Microcephaly - Microphthalmia - Muscle weakness - Muscular dystrophy - Myoclonus - Nystagmus - Opacification of the corneal stroma - Pachygyria - Pallor - Phenotypic variability - Polymicrogyria - Retinal atrophy - Retinal dysplasia - Severe global developmental delay - Severe muscular hypotonia - Short nasal bridge - Spasticity - Type II lissencephaly - Uncontrolled eye movements - Undetectable electroretinogram - Ventriculomegaly - 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 CASK-related intellectual disability ?

[Assistant] These resources address the diagnosis or management of CASK-related intellectual disability:  - Gene Review: Gene Review: CASK-Related Disorders  - Genetic Testing Registry: Mental retardation and microcephaly with pontine and cerebellar hypoplasia   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the treatments for Wiskott-Aldrich syndrome ?

[Assistant] These resources address the diagnosis or management of Wiskott-Aldrich syndrome:  - Gene Review: Gene Review: WAS-Related Disorders  - Genetic Testing Registry: Wiskott-Aldrich syndrome  - MedlinePlus Encyclopedia: Thrombocytopenia  - National Marrow Donor Program  - Rare Disease Clinical Research Network: Primary Immune Deficiency Treatment Consortium   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] How to diagnose Mitochondrial genetic disorders ?

[Assistant] How are mitochondrial genetic disorders diagnosed? Unfortunately, mitochondrial genetic disorders can be difficult to diagnose, and many affected people may never receive a specific diagnosis. They are often suspected in people who have a condition that effects multiple, unrelated systems of the body. In some cases, the pattern of symptoms may be suggestive of a specific mitochondrial condition. If the disease-causing gene(s) associated with the particular condition is known, the diagnosis can then be confirmed with genetic testing. If a mitochondrial genetic disorder is suspected but the signs and symptoms do not suggest a specific diagnosis, a more extensive work-up may be required. In these cases, a physician may start by evaluating the levels of certain substances in a sample of blood or cerebrospinal fluid. Other tests that can support a diagnosis include: Exercise testing Magnetic resonance spectroscopy (detects abnormalities in the brain's chemical makeup) Imaging studies of the brain such as MRI or CT scan Electroencephalography (EEG) Tests that evaluate the heart including electrocardiography and echocardiography Muscle biopsy When possible, confirming a diagnosis with genetic testing can have important implications for family members. Identifying the disease-causing gene(s) will give the family information about the inheritance pattern and the risk to other family members. It will also allow other at-risk family members to undergo genetic testing. For more information regarding the diagnosis of mitochondrial genetic disorders, please visit the United Mitochondrial Disease Foundation's "Getting a Diagnosis" Web page. GeneReviews also provides information on establishing a diagnosis of a mitochondrial disorder. Click on the link to view the article on this topic.


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[User] What are the treatments for Geographic tongue ?

[Assistant] What treatment is available for geographic tongue? Because geographic tongue is a benign (harmless) condition and does not typically cause symptoms, treatment is usually unnecessary. Even those patients who experience sensitivity to hot or spicy foods, generally do not require treatment. With severe symptoms, topical corticosteroids, zinc supplements, and topical anesthetic rinses seem to reduce the discomfort in some patients.


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[User] How to diagnose Cramp-fasciculation syndrome ?

[Assistant] How is cramp-fasciculation syndrome diagnosed?  A diagnosis of cramp-fasciculation syndrome is generally based on the presence of characteristic signs and symptoms. Namely, a history of frequent muscle cramps, twitching, and pain (often worsened by exercise) without muscle weakness or wasting is suggestive of the condition. It is also important to rule out other conditions that may cause similar features. Electromyography (EMG) or repetitive nerve stimulation studies may also be done to assess the health of muscles and the nerves that control them. In repetitive nerve stimulation studies, muscle responses are recorded when the nerves are repetitively stimulated by small pulses of electricity.


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[User] What are the treatments for Lymphocytic infiltrate of Jessner ?

[Assistant] How might lymphocytic infiltrate of Jessner be treated? Lymphocytic infiltrate of Jessner may require no treatment (since it can resolve spontaneously), but some patients benefit from cosmetic camouflage, photoprotection, excision of small lesions, topical steroids, intralesional steroids, oral hydroxychloroquine, systemic steroids, cryotherapy, methotrexate, thalidomide, and/or oral auranofin. There has been one case report describing treatment with a pulsed-dye laser that worked effectively in this patient after a single treatment without adverse side effects. This and further information on treatment of lymphocytic infiltrate of Jessner is available at the following link to the eMedicine online reference Web site: http://emedicine.medscape.com/article/1098654-treatment


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[User] What is (are) Fanconi Anemia ?

[Assistant]
Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare, inherited blood disorder that leads to bone marrow failure. The disorder also is called Fanconis anemia.

FA prevents your bone marrow from making enough new blood cells for your body to work normally. FA also can cause your bone marrow to make many faulty blood cells. This can lead to serious health problems, such as leukemia (a type of blood cancer).

Although FA is a blood disorder, it also can affect many of your body's organs, tissues, and systems. Children who inherit FA are at higher risk of being born with birth defects. FA also increases the risk of some cancers and other serious health problems.

FA is different from Fanconi syndrome. Fanconi syndrome affects the kidneys. It's a rare and serious condition that mostly affects children.

Children who have Fanconi syndrome pass large amounts of key nutrients and chemicals through their urine. These children may have serious health and developmental problems.

Bone Marrow and Blood

Bone marrow is the spongy tissue inside the large bones of your body. Healthy bone marrow contains stem cells that develop into the three types of blood cells that the body needs:

Red blood cells, which carry oxygen to all parts of your body. Red blood cells also remove carbon dioxide (a waste product) from your body's cells and carry it to the lungs to be exhaled.

White blood cells, which help fight infections.

Platelets (PLATE-lets), which help your blood clot.

It's normal for blood cells to die. The lifespan of red blood cells is about 120 days. White blood cells live less than 1 day. Platelets live about 6 days. As a result, your bone marrow must constantly make new blood cells.

If your bone marrow can't make enough new blood cells to replace the ones that die, serious health problems can occur.

Fanconi Anemia and Your Body

FA is one of many types of anemia. The term "anemia" usually refers to a condition in which the blood has a lower than normal number of red blood cells.

FA is a type of aplastic anemia. In aplastic anemia, the bone marrow stops making or doesn't make enough of all three types of blood cells. Low levels of the three types of blood cells can harm many of the body's organs, tissues, and systems.

With too few red blood cells, your body's tissues won't get enough oxygen to work well. With too few white blood cells, your body may have problems fighting infections. This can make you sick more often and make infections worse. With too few platelets, your blood cant clot normally. As a result, you may have bleeding problems.

Outlook

People who have FA have a greater risk than other people for some cancers. About 10percent of people who have FA develop leukemia.

People who have FA and survive to adulthood are much more likely than others to develop cancerous solid tumors.

The risk of solid tumors increases with age in people who have FA. These tumors can develop in the mouth, tongue, throat, or esophagus (eh-SOF-ah-gus). (The esophagus is the passage leading from the mouth to the stomach.)

Women who have FA are at much greater risk than other women of developing tumors in the reproductive organs.

FA is an unpredictable disease. The average lifespan for people who have FA is between 20 and 30 years. The most common causes of death related to FA are bone marrow failure, leukemia, and solid tumors.

Advances in care and treatment have improved the chances of surviving longer with FA. Blood and marrow stem cell transplant is the major advance in treatment. However, even with this treatment, the risk of some cancers is greater in people who have FA.


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[User] What is (are) Sturge-Weber syndrome ?

[Assistant] Sturge-Weber syndrome is a rare disorder that is present at birth. Affected individuals have a large port-wine stain birthmark on their face, which is caused by blood vessel abnormalities. People with Sturge-Weber syndrome also develop blood vessel abnormalities in the brain called leptomeningeal angiomas. Other features of this syndrome include glaucoma, seizures, muscle weakness, paralysis, developmental delay, and intellectual disability. Sturge-Weber syndrome is caused by a mutation in the GNAQ gene. The gene mutation is not inherited, but occurs by chance in cells of the developing embryo.


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[User] How many people are affected by adolescent idiopathic scoliosis ?

[Assistant] Adolescent idiopathic scoliosis is the most common spinal abnormality in children. It affects an estimated 2 to 3 percent of children in the U.S.


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[User] What is (are) Niemann-Pick Disease ?

[Assistant] Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases. Lipids (fatty materials such as waxes, fatty acids, oils, and cholesterol) and proteins are usually broken down into smaller components to provide energy for the body. In Niemann-Pick disease, harmful quantities of lipids accumulate in the brain, spleen, liver, lungs, and bone marrow. Neurological symptoms may include ataxia (lack of muscle control during voluntary movements such as walking), loss of muscle tone, brain degeneration, increased sensitivity to touch, spasticity (stiff muscles and awkward movement), and slurred speech. Other symptoms may include feeding and swallowing difficulties, eye paralysis, learning problems, and an enlarged liver and spleen. There may be clouding of the cornea and a characteristic cherry-red halo develops around the center of the retina. The disease has three categories. Type A, the most severe form, occurs in early infancy and is seen primarily in Jewish families. It is characterized by progressive weakness, an enlarged liver and spleen, swollen lymph nodes, and profound brain damage by six months of age. Children with this type rarely live beyond 18 months. Type B usually occurs in the pre-teen years, with symptoms that include ataxia and peripheral neuropathy. The brain is generally not affected. Other symptoms include enlarged liver and spleen, and pulmonary difficulties. In types A and B, insufficient activity of an enzyme called sphingomyelinase causes the build up of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body. Type C may appear early in life or develop in the teen or adult years. It is caused by a lack of the NPC1 or NPC2 proteins. Affected individuals may have extensive brain damage that can cause an inability to look up and down, difficulty in walking and swallowing, and progressive loss of vision and hearing. There may be moderate enlargement of the spleen and liver. Individuals wit Type C who share a common ancestral background in Nova Scotia were previously referred to as Type D.


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[User] What are the treatments for Locked-In Syndrome ?

[Assistant] There is no cure for locked-in syndrome, nor is there a standard course of treatment. A therapy called functional neuromuscular stimulation, which uses electrodes to stimulate muscle reflexes, may help activate some paralyzed muscles. Several devices to help communication are available. Other treatment is symptomatic and supportive.


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[User] What is the outlook for Uterine Sarcoma ?

[Assistant] Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following:         - The stage of the cancer.    - The type and size of the tumor.    - The patient's general health.    - Whether the cancer has just been diagnosed or has recurred (come back).


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[User] How to diagnose Paget's Disease of Bone ?

[Assistant] Paget's disease is almost always diagnosed by x-ray, although it may be discovered using one of two other tests: an alkaline phosphatase blood test or a bone scan. Paget's disease is often found by accident when a person undergoes one of these tests for another reason. In other cases, a person experiences problems that lead his or her physician to order these tests. If Paget's disease is first suggested by an alkaline phosphatase blood test or bone scan, the physician usually orders an x-ray to verify the diagnosis. A bone scan is typically used to identify all the bones in the skeleton that are affected by the disease.


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[User] what research (or clinical trials) is being done for Neurological Complications of AIDS ?

[Assistant] Within the Federal government, the National Institute of Neurological Disorders and Stroke (NINDS), one part of the National Institutes of Health (NIH), supports research on the neurological consequences of AIDS. The NINDS works closely with its sister agency, the National Institute of Allergy and Infectious Diseases (NIAID), which has primary responsibility for research related to HIV and AIDS.


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[User] What are the genetic changes related to tyrosine hydroxylase deficiency ?

[Assistant] Mutations in the TH gene cause TH deficiency. The TH gene provides instructions for making the enzyme tyrosine hydroxylase, which is important for normal functioning of the nervous system. Tyrosine hydroxylase takes part in the pathway that produces a group of chemical messengers (hormones) called catecholamines. Tyrosine hydroxylase helps convert the protein building block (amino acid) tyrosine to a catecholamine called dopamine. Dopamine transmits signals to help the brain control physical movement and emotional behavior. Other catecholamines called norepinephrine and epinephrine are produced from dopamine. Norepinephrine and epinephrine are involved in the autonomic nervous system.  Mutations in the TH gene result in reduced activity of the tyrosine hydroxylase enzyme. As a result, the body produces less dopamine, norepinephrine and epinephrine. These catecholamines are necessary for normal nervous system function, and changes in their levels contribute to the abnormal movements, autonomic dysfunction, and other neurological problems seen in people with TH deficiency.


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

[Assistant]
Autoimmune disorders cause most cases of Addisons disease. Infections and medications may also cause the disease.

Autoimmune Disorders

Up to 80 percent of Addisons disease cases are caused by an autoimmune disorder, which is when the bodys immune system attacks the bodys own cells and organs.2 In autoimmune Addisons, which mainly occurs in middle-aged females, the immune system gradually destroys the adrenal cortexthe outer layer of the adrenal glands.2

Primary adrenal insufficiency occurs when at least 90 percent of the adrenal cortex has been destroyed.1 As a result, both cortisol and aldosterone are often lacking. Sometimes only the adrenal glands are affected. Sometimes other endocrine glands are affected as well, as in polyendocrine deficiency syndrome.

Polyendocrine deficiency syndrome is classified into type 1 and type 2. Type 1 is inherited and occurs in children. In addition to adrenal insufficiency, these children may have

- underactive parathyroid glands, which are four pea-sized glands located on or near the thyroid gland in the neck; they produce a hormone that helps maintain the correct balance of calcium in the body.   - slow sexual development.   - pernicious anemia, a severe type of anemia; anemia is a condition in which red blood cells are fewer than normal, which means less oxygen is carried to the bodys cells. With most types of anemia, red blood cells are smaller than normal; however, in pernicious anemia, the cells are bigger than normal.   - chronic fungal infections.   - chronic hepatitis, a liver disease.

Researchers think type 2, which is sometimes called Schmidts syndrome, is also inherited. Type 2 usually affects young adults and may include

- an underactive thyroid gland, which produces hormones that regulate metabolism   - slow sexual development   - diabetes, in which a person has high blood glucose, also called high blood sugar or hyperglycemia   - vitiligo, a loss of pigment on areas of the skin

Infections

Tuberculosis (TB), an infection that can destroy the adrenal glands, accounts for 10 to 15 percent of Addisons disease cases in developed countries.1 When primary adrenal insufficiency was first identified by Dr. Thomas Addison in 1849, TB was the most common cause of the disease. As TB treatment improved, the incidence of Addisons disease due to TB of the adrenal glands greatly decreased. However, recent reports show an increase in Addisons disease from infections such as TB and cytomegalovirus. Cytomegalovirus is a common virus that does not cause symptoms in healthy people; however, it does affect babies in the womb and people who have a weakened immune systemmostly due to HIV/AIDS.2 Other bacterial infections, such as Neisseria meningitidis, which is a cause of meningitis, and fungal infections can also lead to Addisons disease.

Other Causes

Less common causes of Addisons disease are

- cancer cells in the adrenal glands   - amyloidosis, a serious, though rare, group of diseases that occurs when abnormal proteins, called amyloids, build up in the blood and are deposited in tissues and organs   - surgical removal of the adrenal glands   - bleeding into the adrenal glands   - genetic defects including abnormal adrenal gland development, an inability of the adrenal glands to respond to ACTH, or a defect in adrenal hormone production   - medication-related causes, such as from anti-fungal medications and the anesthetic etomidate, which may be used when a person undergoes an emergency intubationthe placement of a flexible, plastic tube through the mouth and into the trachea, or windpipe, to assist with breathing

2


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[User] What are the treatments for tumor necrosis factor receptor-associated periodic syndrome ?

[Assistant] These resources address the diagnosis or management of TRAPS:  - Genetic Testing Registry: TNF receptor-associated periodic fever syndrome (TRAPS)  - University College London: National Amyloidosis Center (UK)   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 Heart Failure ?

[Assistant]
The most common signs and symptoms of heart failure are:

Shortness of breath or trouble breathing

Fatigue (tiredness)

Swelling in the ankles, feet, legs, abdomen, and veins in the neck

All of these symptoms are the result of fluid buildup in your body. When symptoms start, you may feel tired and short of breath after routine physical effort, like climbing stairs.

As your heart grows weaker, symptoms get worse. You may begin to feel tired and short of breath after getting dressed or walking across the room. Some people have shortness of breath while lying flat.

Fluid buildup from heart failure also causes weight gain, frequent urination, and a cough that's worse at night and when you're lying down. This cough may be a sign of acute pulmonary edema (e-DE-ma). This is a condition in which too much fluid builds up in your lungs. The condition requires emergency treatment.

Heart Failure Signs and Symptoms


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[User] What are the genetic changes related to neuropathy, ataxia, and retinitis pigmentosa ?

[Assistant] NARP results from mutations in the MT-ATP6 gene. This gene is contained in mitochondrial DNA, also known as mtDNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA.  The MT-ATP6 gene provides instructions for making a protein that is essential for normal mitochondrial function. Through a series of chemical reactions, mitochondria use oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source. The MT-ATP6 protein forms one part (subunit) of an enzyme called ATP synthase, which is responsible for the last step in ATP production. Mutations in the MT-ATP6 gene alter the structure or function of ATP synthase, reducing the ability of mitochondria to make ATP. It remains unclear how this disruption in mitochondrial energy production leads to muscle weakness, vision loss, and the other specific features of NARP.


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[User] What are the treatments for Lung Cancer ?

[Assistant] The choice of treatment depends on the type of lung cancer, whether it is non-small or small cell lung cancer, the size, location, the stage of the cancer, and the patient's general health. Doctors may suggest many different treatments or combinations of treatments to control the cancer and/or improve the patient's quality of life. What Standard Treatments Do Here are some of the most common treatments for lung cancer. - Surgery is an operation to remove the cancer. Depending on the location of the tumor, the surgeon may remove a small part of the lung, a lobe of the lung, or the entire lung and possibly even part of the ribcage to get to the lung.  - Chemotherapy uses anti-cancer drugs to kill cancer cells throughout the body. Doctors use chemotherapy to control cancer growth and relieve symptoms. Anti-cancer drugs are given by injection; through a catheter, a long thin tube temporarily placed in a large vein; or in pill form.  - Targeted therapy is a type of treatment that uses drugs or other substances to attack specific cancer cells.  - Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. An external machine delivers radiation to a limited area, affecting cancer cells only in that area. Doctors may use radiation before surgery to shrink a tumor or after surgery to destroy any cancer cells remaining in the treated area. Surgery is an operation to remove the cancer. Depending on the location of the tumor, the surgeon may remove a small part of the lung, a lobe of the lung, or the entire lung and possibly even part of the ribcage to get to the lung. Chemotherapy uses anti-cancer drugs to kill cancer cells throughout the body. Doctors use chemotherapy to control cancer growth and relieve symptoms. Anti-cancer drugs are given by injection; through a catheter, a long thin tube temporarily placed in a large vein; or in pill form. Targeted therapy is a type of treatment that uses drugs or other substances to attack specific cancer cells. Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. An external machine delivers radiation to a limited area, affecting cancer cells only in that area. Doctors may use radiation before surgery to shrink a tumor or after surgery to destroy any cancer cells remaining in the treated area. Treating Non-Small Cell Lung Cancer Doctors treat patients with non-small cell lung cancer in several ways, and surgery is a common treatment. Cryosurgery, a treatment that freezes and destroys cancer tissue, may be used to control symptoms in the later stages of non-small cell lung cancer. Doctors may also use radiation therapy and chemotherapy to slow the progress of the disease and to manage symptoms.  See more information about treatments for non-small cell lung cancer. Treating Small Cell Lung Cancer Small cell lung cancer spreads quickly. In many cases, cancer cells have already spread to other parts of the body when the disease is diagnosed. In order to reach cancer cells throughout the body, doctors almost always use chemotherapy. Treatment for small cell lung cancer may also include radiation therapy aimed at the tumor in the lung or tumors in other parts of the body, such as in the brain. Surgery is part of the treatment plan for a small number of patients with small cell lung cancer. Some patients with small cell lung cancer have radiation therapy to the brain even though no cancer is found there. This treatment, called prophylactic cranial irradiation or PCI, is given to prevent tumors from forming in the brain. See more information about treatments for small cell lung cancer.


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[User] Is SOST-related sclerosing bone dysplasia 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 is (are) Adrenoleukodystrophy ?

[Assistant] X-linked Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. Women have two X chromosomes and are the carriers of the disease, but since men only have one X chromosome and lack the protective effect of the extra X chromosome, they are more severely affected. People with X-ALD accumulate high levels of saturated, very long chain fatty acids (VLCFA) in the brain and adrenal cortex. The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of X-ALD. While nearly all patients with X-ALD suffer from adrenal insufficiency, also known as Addison's disease, the neurological symptoms can begin either in childhood or in adulthood. The childhood cerebral form is the most severe, with onset between ages 4 and 10. The most common symptoms are usually behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. Other symptoms include visual loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, increased skin pigmentation, and progressive dementia. The milder adult-onset form is also known as adrenomyeloneuropathy (AMN), which typically begins between ages 21 and 35. Symptoms may include progressive stiffness, weakness or paralysis of the lower limbs, and ataxia. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function. Almost half the women who are carriers of X-ALS will develop a milder form of AMN but almost never will develop symptoms seen in boys the X-ALD. X-ALD should not be confused with neonatal adrenoleukodsystrophy, which is a disease of newborns and young infants and belongs to the group of peroxisomal biogenesis disorders.


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[User] What are the genetic changes related to inherited thyroxine-binding globulin deficiency ?

[Assistant] Inherited thyroxine-binding globulin deficiency results from mutations in the SERPINA7 gene. This gene provides instructions for making thyroxine-binding globulin. Some mutations in the SERPINA7 gene prevent the production of a functional protein, causing TBG-CD. Other mutations reduce the amount of this protein or alter its structure, resulting in TBG-PD.  Researchers have also described non-inherited forms of thyroxine-binding globulin deficiency, which are more common than the inherited form. Non-inherited thyroxine-binding globulin deficiency can occur with a variety of illnesses and is a side effect of some medications.


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[User] What are the treatments for Cockayne syndrome ?

[Assistant] These resources address the diagnosis or management of Cockayne syndrome:  - Gene Review: Gene Review: Cockayne Syndrome  - Genetic Testing Registry: Cockayne syndrome  - Genetic Testing Registry: Cockayne syndrome type A  - Genetic Testing Registry: Cockayne syndrome type C  - Genetic Testing Registry: Cockayne syndrome, type B  - MedlinePlus Encyclopedia: Failure to Thrive   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the treatments for Wernicke-Korsakoff Syndrome ?

[Assistant] Treatment involves replacement of thiamine and providing proper nutrition and hydration. In some cases, drug therapy is also recommended.Stopping alcohol use may prevent further nerve and brain damage. In individuals with Wernicke's encephalopathy, it is very important to start thiamine replacement before beginning nutritional replenishment.


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[User] What is (are) polycystic kidney disease ?

[Assistant] Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.  Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture.  The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on the genetic cause. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy.


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[User] What are the symptoms of FG syndrome ?

[Assistant] What are the signs and symptoms of FG syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for FG 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 of the corpus callosum 90% Behavioral abnormality 90% Broad forehead 90% Cognitive impairment 90% High forehead 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Abnormality of the palate 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% EEG abnormality 50% Epicanthus 50% Fine hair 50% Mask-like facies 50% Open mouth 50% Seizures 50% Strabismus 50% Abnormality of the intestine 7.5% Hernia of the abdominal wall 7.5% Hypertonia 7.5% Ptosis 7.5% Single transverse palmar crease 7.5% Sensorineural hearing impairment 4/6 Feeding difficulties in infancy 5/8 Seizures 5/8 Prominent forehead 3/8 Scoliosis 2/8 Abnormal heart morphology - Abnormality of the nasopharynx - Abnormality of the sternum - Anal atresia - Anal stenosis - Anteriorly placed anus - Attention deficit hyperactivity disorder - Broad hallux - Broad thumb - Camptodactyly - Choanal atresia - Cleft palate - Cleft upper lip - Clinodactyly - Constipation - Delayed closure of the anterior fontanelle - Delayed speech and language development - Dental crowding - Facial wrinkling - Frontal bossing - Frontal upsweep of hair - Heterotopia - High pitched voice - Hydrocephalus - Hypertelorism - Hypospadias - Inguinal hernia - Intellectual disability - Intestinal malrotation - Joint contracture of the hand - Joint swelling onset late infancy - Large forehead - Long philtrum - Lumbar hyperlordosis - Microtia, first degree - Motor delay - Multiple joint contractures - Narrow palate - Neonatal hypotonia - Partial agenesis of the corpus callosum - Plagiocephaly - Postnatal macrocephaly - Prominent fingertip pads - Prominent nose - Pyloric stenosis - Radial deviation of finger - Sacral dimple - Short neck - Short stature - Skin tags - Sparse hair - Split hand - Syndactyly - Thick lower lip vermilion - Umbilical hernia - Underdeveloped superior crus of antihelix - Wide anterior fontanel - Wide mouth - Wide nasal bridge - X-linked inheritance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] Is prekallikrein 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 is (are) Surviving Cancer ?

[Assistant] Follow-up cancer care involves regular medical checkups that include a review of your medical history and a physical exam. Follow-up care may include blood work and other lab tests and procedures that allow the doctor to examine or take pictures of areas inside the body.  See more resources and information about follow-up care after treatment, including guidelines.


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[User] What are the treatments for metachromatic leukodystrophy ?

[Assistant] These resources address the diagnosis or management of metachromatic leukodystrophy:  - Gene Review: Gene Review: Arylsulfatase A Deficiency  - Genetic Testing Registry: Metachromatic leukodystrophy  - Genetic Testing Registry: Sphingolipid activator protein 1 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 treatments for What I need to know about Crohn's Disease ?

[Assistant]
Treatment for Crohns disease depends on

- where the disease is located in the GI tract  - what problems you already have from the disease  - what past treatments you have had for the disease

The goals of treatment are to

- decrease the inflammation  - relieve symptoms such as abdominal pain, diarrhea, and rectal bleeding  - correct nutritional problems

Treatment may include

- medicines  - surgery  - eating, diet, and nutrition

Medicines

One or more of the following medicines may be used to treat Crohns disease:

- Anti-inflammation medicines may be used first to treat your Crohn's disease. These medicines help lower inflammation in the intestine and relieve the pain and diarrhea. Sometimes anti-inflammation medicines cause side effects, so you should talk with your health care provider about what to expect.  - Steroids also help lower inflammation. Steroids are similar to natural chemicals in the body. However, steroids are used only for a short time because long-term use can lead to serious side effects.  - Immune system suppressors. Azathioprine and 6-mercaptopurine work by keeping your immune system from attacking harmless foreign substances. Immune system suppressors also cause side effects, so you should talk with your health care provider about what to expect.  - Biological therapies. Biological therapies are medicines that are given by an injection in the vein, infliximab (Remicade), or an injection in the skin, adalimumab (HUMIRA). Your health care provider may treat you with these medicines if others are not helping to decrease inflammation, or if you have fistulas with abscesses. The goals for using these medicines are to get you better, keep you better, and avoid long-term steroid use.  - Antibiotics. Antibiotics are used to treat bacterial overgrowth in the small intestine caused by stricture, fistulas, or surgery. For this common problem, the doctor may prescribe one or more of the following antibiotics: ampicillin, sulfonamide, cephalosporin, tetracycline, or metronidazole.

- Anti-diarrheal medicines and fluid replacements. Diarrhea and abdominal cramps are often relieved when the inflammation improves, but more medicine may be needed. Anti-diarrheal medicines include diphenoxylate, loperamide, and codeine. People with diarrhea should drink plenty of fluids to prevent dehydrationloss of fluids from the body. If diarrhea does not improve, the person should see the doctor promptly for possible treatment with fluids given through a small tube inserted into an arm vein.

Surgery

Some people with Crohns disease need surgery if medicines are no longer working to control blockage, fistulas, abscesses, and bleeding. A surgeon performs the procedure in a hospital, where you will receive medicine to make you sleep during the surgery.

One or more of the following surgeries may be needed:

- Intestinal resection. The surgeon removes the diseased section of intestine and puts the ends of the intestine back together.  - Proctocolectomy. Proctocolectomy is surgery to remove the rectum and part or all of the colon. An ileostomy is performed with a proctocolectomy.  - Ileostomy. Ileostomy is an operation to create an openingcalled a stomafor the stool to exit the body when the ends of the intestine cannot be put back together. To create a stoma, an end of the intestine is brought out through a small opening made on the lower right part of the abdomen near the beltline. The stoma is about the size of a quarter. An ostomy pouch is worn outside the body over the stoma to collect waste, and it is emptied several times a day. Your health care provider may refer you to an ostomy nursea specialist who cares for people with an ostomy pouch.

Surgery usually does not cure Crohn's disease forever. Sometimes you need to have more than one surgery because the disease returns next to where the intestine was removed. Because Crohns disease can return after surgery, you can talk with your health care provider and other patients to get as much information as possible before having surgery.


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[User] what research (or clinical trials) is being done for Familial Periodic Paralyses ?

[Assistant] The NINDS conducts and supports research on neuromuscular disorders such as the familial periodic paralyses. These studies are aimed at increasing knowledge about these disorders and finding ways to prevent, treat, and cure them.


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

[Assistant] The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to prosopagnosia in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders, such as prosopagnosia.


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[User] What are the treatments for Breast Cancer ?

[Assistant] Once breast cancer has been found, it is staged. Staging means determining how far the cancer has progressed. Through staging, the doctor can tell if the cancer has spread and, if so, to what parts of the body. More tests may be performed to help determine the stage. Knowing the stage of the disease helps the doctor plan treatment. Staging will let the doctor know - the size of the tumor and exactly where it is in the breast.  - if the cancer has spread within the breast.  - if cancer is present in the lymph nodes under the arm.  - If cancer is present in other parts of the body. the size of the tumor and exactly where it is in the breast. if the cancer has spread within the breast. if cancer is present in the lymph nodes under the arm. If cancer is present in other parts of the body.  Read more details about the stages of breast cancer.


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[User] How many people are affected by pulmonary alveolar microlithiasis ?

[Assistant] Pulmonary alveolar microlithiasis is a rare disorder; its prevalence is unknown. About 600 affected individuals have been described in the medical literature, of whom about a quarter are of Turkish descent. The remainder come from populations worldwide.


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

[Assistant] Majeed syndrome appears to be very rare; it has been reported in three families, all from the Middle East.


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[User] What is (are) aromatic l-amino acid decarboxylase deficiency ?

[Assistant] Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system.  Signs and symptoms of AADC deficiency generally appear in the first year of life. Affected infants may have severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis). They may be lacking in energy (lethargic), feed poorly, startle easily, and have sleep disturbances. People with AADC deficiency may also experience episodes called oculogyric crises that involve abnormal rotation of the eyeballs; extreme irritability and agitation; and pain, muscle spasms, and uncontrolled movements, especially of the head and neck.  AADC deficiency may affect the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Resulting signs and symptoms can include droopy eyelids (ptosis), constriction of the pupils of the eyes (miosis), inappropriate or impaired sweating, nasal congestion, drooling, reduced ability to control body temperature, low blood pressure (hypotension), backflow of acidic stomach contents into the esophagus (gastroesophageal reflux), low blood sugar (hypoglycemia), fainting (syncope), and cardiac arrest.  Signs and symptoms of AADC deficiency tend to worsen late in the day or when the individual is tired, and improve after sleep.


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[User] What is (are) Ovarian small cell carcinoma ?

[Assistant] Ovarian small cell carcinoma is a rare cancer that typically occurs in young women. It is an aggressive tumor that can metastasize to other parts of the body. Ovarian small cell carcinoma is associated with hypercalcemia and is usually treated with platinum or etoposide-based chemotherapy.


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[User] What are the symptoms of Neonatal progeroid syndrome ?

[Assistant] What are the signs and symptoms of Neonatal progeroid syndrome? The signs and symptoms of neonatal progeroid syndrome vary but may include: Subcutaneous lipoatrophy (deficiency or absence of the fat layer beneath the skin) which gives infants an aged appearance at birth Intrauterine growth restriction Failure to thrive Feeding difficulties Distinctive craniofacial features such as a triangular face; large skull with wide anterior (front) fontanelle; small, underdeveloped facial bones; natal teeth; low-set, posteriorly (towards the back) rotated ears, ectropion; and/or unusually sparse scalp hair, eyebrows, and eyelashes Thin arms and legs with disproportionately large hands and feet Small fingers and toes with underdeveloped nails Osteopenia (low bone density) Horizontal nystagmus Developmental delay Mild to severe intellectual disability The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal progeroid syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the hip bone 90% Aplasia/Hypoplasia of the eyebrow 90% Arachnodactyly 90% Cognitive impairment 90% Delayed skeletal maturation 90% Frontal bossing 90% Hearing impairment 90% High forehead 90% Intrauterine growth retardation 90% Laryngomalacia 90% Lipoatrophy 90% Macrocephaly 90% Narrow mouth 90% Short stature 90% Thin skin 90% Triangular face 90% Advanced eruption of teeth 50% Cerebral cortical atrophy 50% Convex nasal ridge 50% Cryptorchidism 50% Ventriculomegaly 50% Abnormality of chromosome stability 7.5% Limitation of joint mobility 7.5% Long penis 7.5% Flexion contracture 5% Hypertriglyceridemia 5% Hypospadias 5% Abnormality of cardiovascular system morphology - Absence of subcutaneous fat - Aplasia/Hypoplasia of the earlobes - Autosomal recessive inheritance - Blue sclerae - Congenital onset - Decreased subcutaneous fat - Delayed closure of the anterior fontanelle - Dysphagia - Ectropion - Entropion - Failure to thrive - Feeding difficulties - Gynecomastia - Hypertelorism - Hypoplastic ilia - Hypotrichosis - Increased serum testosterone level - Intellectual disability - Intention tremor - Large hands - Long fingers - Long foot - Long toe - Low-set ears - Malar flattening - Muscular hypotonia - Narrow nasal ridge - Natal tooth - Nystagmus - Parietal bossing - Prominent scalp veins - Recurrent respiratory infections - Short femur - Short humerus - Small nail - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Sudanophilic leukodystrophy - Thin ribs - Truncal ataxia - Upslanted palpebral fissure - Widely patent fontanelles and sutures - 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 Familial renal cell carcinoma ?

[Assistant] What are the signs and symptoms of Familial renal cell carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial renal cell carcinoma. 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) Renal cell carcinoma - Sporadic - 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] Who is at risk for Aneurysm? ?

[Assistant]
Certain factors put you at higher risk for an aortic aneurysm. These factors include:

Male gender. Men are more likely than women to have aortic aneurysms.

Age. The risk for abdominal aortic aneurysms increases as you get older. These aneurysms are more likely to occur in people who are aged 65 or older.

Smoking. Smoking can damage and weaken the walls of the aorta.

A family history of aortic aneurysms. People who have family histories of aortic aneurysms are at higher risk for the condition, and they may have aneurysms before the age of 65.

A history of aneurysms in the arteries of the legs.

Certain diseases and conditions that weaken the walls of the aorta. Examples include high blood pressure and atherosclerosis.

Having a bicuspid aortic valve can raise the risk of having a thoracic aortic aneurysm. A bicuspid aortic valve has two leaflets instead of the typical three.

Car accidents or trauma also can injure the arteries and increase the risk for aneurysms.

If you have any of these risk factors, talk with your doctor about whether you need screening for aneurysms.


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[User] How to diagnose Childhood Liver Cancer ?

[Assistant] Tests that examine the liver and the blood are used to detect (find) and diagnose childhood liver cancer and find out whether the cancer has spread. 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 patient's health habits and past illnesses and treatments will also be taken.    -   Serum tumor marker test : A procedure in which a blood sample is checked 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. The blood of children who have liver cancer may have increased amounts of a hormone called beta-human chorionic gonadotropin (-hCG) or a protein called alpha-fetoprotein (AFP). Other cancers and certain noncancer conditions, including cirrhosis and hepatitis, can also increase AFP levels.    -   Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following:                - The number of red blood cells, white blood cells, and platelets.      - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells.      - The portion of the blood sample made up of red blood cells.             -   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 damage or cancer.    -   Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as bilirubin or lactate dehydrogenase (LDH), released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease.     -   Epstein-Barr virus (EBV) test: A blood test to check for antibodies to the EBV and DNA markers of the EBV. These are found in the blood of patients who have been infected with EBV.    -  Hepatitis assay : A procedure in which a blood sample is checked for pieces of the hepatitis virus.    -   MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the liver. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI).    -   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. In childhood liver cancer, an ultrasound exam of the abdomen to check the large blood vessels is usually done.    -   CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. In childhood liver cancer, a CT scan of the chest and abdomen is usually done.    -   Abdominal x-ray : An x-ray of the organs in the abdomen. An x-ray is a type of energy beam that can go through the body onto film, making a picture of areas inside the body.    -   Biopsy : The removal of a sample of cells or tissues so it can be viewed under a microscope to check for signs of cancer. The sample may be taken during surgery to remove or view the tumor. A pathologist looks at the sample under a microscope to find out the type of liver cancer.  The following test may be done on the sample of tissue that is removed:               -  Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test is used to check for a certain gene mutation and to tell the difference between different types of cancer.


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[User] How to diagnose Kawasaki Disease ?

[Assistant]
Kawasaki disease is diagnosed based on your child's signs and symptoms and the results from tests and procedures.

Specialists Involved

Pediatricians often are the first to suspect a child has Kawasaki disease. Pediatricians are doctors who specialize in treating children.

If the disease has affected your child's coronary (heart) arteries, a pediatric cardiologist will confirm the diagnosis and give ongoing treatment. Pediatric cardiologists treat children who have heart problems.

Other specialists also may be involved in treating children who have Kawasaki disease.

Signs and Symptoms

The doctor will check your child for the classic signs and symptoms of Kawasaki disease.

The doctor will rule out other diseases that cause similar symptoms. These diseases include Rocky Mountain spotted fever, scarlet fever, and juvenile rheumatoid arthritis.

Generally, your child will be diagnosed with Kawasaki disease if he or she has a fever that lasts longer than 5 days plus four other classic signs or symptoms of the disease.

However, not all children have classic signs and symptoms of Kawasaki disease. Tests and procedures can help confirm whether a child has the disease.

Tests and Procedures

Echocardiography

If the doctor thinks that your child has Kawasaki disease, he or she will likely recommendechocardiography(EK-o-kar-de-OG-ra-fee), or echo. This painless test uses sound waves to create pictures of the heart and coronary arteries.

Echo also can help show the disease's effects over time, if any, on your child's coronary arteries. Often, the disease's effects on the coronary arteries don't show up until the second or third week after the first symptoms appear. Thus, this test is done regularly after the diagnosis.

Some children who have Kawasaki disease don't have the classic signs and symptoms of the acute phase. Doctors may not diagnose these children until 2 to 3 weeks after the onset of the disease. This is when another common sign of Kawasaki disease occurspeeling of the skin on the fingers and toes.

If your child is diagnosed at this point, he or she will likely need echo right away to see whether the disease has affected the coronary arteries.

Other Diagnostic Tests

Doctors also use other tests to help diagnose Kawasaki disease, such as:

Blood tests. The results from blood tests can show whether the body's blood vessels are inflamed.

Chest x ray. This painless test creates pictures of structures inside the chest, such as the heart and lungs. A chest x ray can show whether Kawasaki disease has affected the heart.

EKG (electrocardiogram). This simple test detects and records the heart's electrical activity. An EKG can show whether Kawasaki disease has affected the heart.


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[User] How many people are affected by hyperparathyroidism-jaw tumor syndrome ?

[Assistant] The exact prevalence of hyperparathyroidism-jaw tumor syndrome is unknown. Approximately 200 cases have been reported in the medical literature.


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[User] How many people are affected by renal hypouricemia ?

[Assistant] The prevalence of renal hypouricemia is unknown; at least 150 affected individuals have been described in the scientific literature. This condition is thought to be most prevalent in Asian countries such as Japan and South Korea, although affected individuals have been found in Europe. Renal hypouricemia is likely underdiagnosed because it does not cause any symptoms in many affected individuals.


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[User] What are the genetic changes related to preeclampsia ?

[Assistant] The specific causes of preeclampsia are not well understood. In pregnancy, blood volume normally increases to support the fetus, and the mother's body must adjust to handle this extra fluid. In some women the body does not react normally to the fluid changes of pregnancy, leading to the problems with high blood pressure and urine production in the kidneys that occur in preeclampsia.  The reasons for these abnormal reactions to the changes of pregnancy vary in different women and may differ depending on the stage of the pregnancy at which the condition develops. Studies suggest that preeclampsia is related to a problem with the placenta, the link between the mother's blood supply and the fetus. If there is an insufficient connection between the placenta and the arteries of the uterus, the placenta does not get enough blood. It responds by releasing a variety of substances, including molecules that affect the lining of blood vessels (the vascular endothelium). By mechanisms that are unclear, the reaction of the vascular endothelium appears to increase factors that cause the blood vessels to narrow (constrict), and decrease factors that would cause them to widen (dilate). As a result, the blood vessels constrict abnormally, causing hypertension. These blood vessel abnormalities also affect the kidneys, causing some proteins that are normally absorbed into the blood to be released in the urine instead.  Researchers are studying whether variations in genes involved in fluid balance, the functioning of the vascular endothelium, or placental development affect the risk of developing preeclampsia. Many other factors likely also contribute to the risk of developing this complex disorder. These risk factors include a first pregnancy; a pregnancy with twins or higher multiples; obesity; being older than 35 or younger than 20; a history of diabetes, hypertension, or kidney disease; and preeclampsia in a previous pregnancy. Socioeconomic status and ethnicity have also been associated with preeclampsia risk. The incidence of preeclampsia in the United States has increased by 30 percent in recent years, which has been attributed in part to an increase in older mothers and multiple births resulting from the use of assisted reproductive technologies.