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

[User] What causes Nephrocalcinosis ?

[Assistant] What causes nephrocalcinosis? Nephrocalcinosis may be caused by a variety of things, including underlying disorders or conditions, medications or supplements, and infections. Causes may include: Primary hyperparathyroidism is the single most common cause of nephrocalcinosis in adults. While nephrocalcinosis is a relatively rare complication (5%), primary hyperparathryroidism is relatively common, especially in the elderly. Rarely, hyperparathyroidism can be associated with multiple endocrine neoplasia type 1 (MEN1). Distal renal tubular acidosis (RTA) is the second most common cause of medullary nephrocalcinosis. hypervitaminosis-D states resulting from excessive treatment of hypoparathyroidism, self-administration of vitamins, and the presence of a granulomatous disease, such as sarcoidosis. Any other cause of hypercalcemia (increased calcium in the blood), particularly when associated with hypercalciuria (increased calcium in the urine). Causes include milk-alkali syndrome (due to excess ingestion of antacids), hyperparathyroidism, and malignant disease. Idiopathic hypercalciuria,a common metabolic disease, is also a known cause. Nephrocalcinosis and renal failure are increasingly being recognized as common complications of phosphate supplementation, particularly in the elderly.Phosphate supplements may contribute to renal calcifications in children with hypophosphatemic rickets. Medullary sponge kidney Rapidly progressive osteoporosis due to immobilization, menopause, aging, or steroids. Primary (familial) hyperoxaluria, or secondary hyperoxaluria due to increased intake of oxalates, increased absorption due to intestinal disease, or ingestion of ethylene glycol. Chronic disorders such as Bartter syndrome, primary hyperaldosteronism, Liddle syndrome, and 11-beta hydroxylase deficiency are associated with reduced urine citrate and tubular damage, leading to calcium deposits. Autosomal dominant hypophosphatemic rickets and X-linked hypophosphatemic conditions, possibly due to phosphate supplementation for the condition. Premature, sick infants have been observed to develop diffuse nephrocalcinosis, typically when exposed to diuretic therapy or prolonged O 2 therapy. Other causes may include the use of certain medications such as acetazolamide; tuberculosis of the kidney; and infections related to AIDS


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[User] What are the symptoms of Urachal cyst ?

[Assistant] What are the signs and symptoms of a urachal cyst? In most cases, urachal cysts are not associated with any signs or symptoms unless there are complications such as infection. Possible symptoms vary, but may include: Lower abdominal pain Fever Abdominal lump or mass Pain with urination Urinary tract infection Hematuria


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[User] How to diagnose Adenocarcinoma of the appendix ?

[Assistant] How might adenocarcinoma of the appendix be diagnosed? Adenocarcinoma of the appendix may be identified along with acute appendicitis. Mucinous adenocarcinomas may also be found incidentally as a right sided cystic mass on an imaging study.


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[User] What is (are) Carpal Tunnel Syndrome ?

[Assistant] You're working at your desk, trying to ignore the tingling or numbness you've had for some time in your hand and wrist. Suddenly, a sharp, piercing pain shoots through the wrist and up your arm. Just a passing cramp? It could be carpal tunnel syndrome.    The carpal tunnel is a narrow passageway of ligament and bones at the base of your hand. It contains nerve and tendons. Sometimes, thickening from irritated tendons or other swelling narrows the tunnel and causes the nerve to be compressed. Symptoms usually start gradually. As they worsen, grasping objects can become difficult.    Often, the cause is having a smaller carpal tunnel than other people do. Other causes include performing assembly line work, wrist injury, or swelling due to certain diseases, such as rheumatoid arthritis. Women are three times more likely to have carpal tunnel syndrome than men.    Early diagnosis and treatment are important to prevent permanent nerve damage. Your doctor diagnoses carpal tunnel syndrome with a physical exam and special nerve tests. Treatment includes resting your hand, splints, pain and anti-inflammatory medicines, and sometimes surgery.     NIH: National Institute of Neurological Disorders and Stroke


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[User] What is (are) Chancroid ?

[Assistant] Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more. About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery.


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[User] Do you have information about Puberty

[Assistant] Summary : Puberty is the time in life when a boy or girl becomes sexually mature. It is a process that usually happens between ages 10 and 14 for girls and ages 12 and 16 for boys. It causes physical changes, and affects boys and girls differently.    In girls:       - The first sign of puberty is usually breast development.    - Then hair grows in the pubic area and armpits.    - Menstruation (or a period) usually happens last.       In boys:       - Puberty usually begins with the testicles and penis getting bigger.    - Then hair grows in the pubic area and armpits.    - Muscles grow, the voice deepens, and facial hair develops as puberty continues.       Both boys and girls may get acne. They also usually have a growth spurt (a rapid increase in height) that lasts for about 2 or 3 years. This brings them closer to their adult height, which they reach after puberty.     NIH: National Institute of Child Health and Human Development


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[User] What causes Punctate palmoplantar keratoderma type I ?

[Assistant] What causes palmoplantar keratoderma type 1? Punctate palmoplantar keratoderma type 1 is a condition that is usually inherited in an autosomal dominant manner. It has recently been shown to be caused by mutations in the AAGAB gene in several families. Although the exact function of the AAGAB gene is currently unknown, the gene is thought to play an important role in skin integrity.


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[User] What are the genetic changes related to pyruvate carboxylase deficiency ?

[Assistant] Mutations in the PC gene cause pyruvate carboxylase deficiency.  The PC gene provides instructions for making an enzyme called pyruvate carboxylase. This enzyme is active in mitochondria, which are the energy-producing centers within cells. It is involved in several important cellular functions including the generation of glucose, a simple sugar that is the body's main energy source. Pyruvate carboxylase also plays a role in the formation of the protective sheath that surrounds certain nerve cells (myelin) and the production of brain chemicals called neurotransmitters.  Mutations in the PC gene reduce the amount of pyruvate carboxylase in cells or disrupt the enzyme's activity. The missing or altered enzyme cannot carry out its essential role in generating glucose, which impairs the body's ability to make energy in mitochondria. Additionally, a loss of pyruvate carboxylase allows potentially toxic compounds such as lactic acid and ammonia to build up and damage organs and tissues. Researchers suggest that the loss of pyruvate carboxylase function in the nervous system, particularly the role of the enzyme in myelin formation and neurotransmitter production, also contributes to the neurologic features of pyruvate carboxylase deficiency.


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[User] What are the treatments for Kearns-Sayre syndrome ?

[Assistant] These resources address the diagnosis or management of Kearns-Sayre syndrome:  - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes  - Genetic Testing Registry: Kearns Sayre 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 treatments for Prolactinoma ?

[Assistant]
The goals of treatment are to return prolactin secretion to normal, reduce tumor size, correct any visual abnormalities, and restore normal pituitary function. In the case of large tumors, only partial achievement of these goals may be possible.

Medical Treatment

Because dopamine is the chemical that normally inhibits prolactin secretion, doctors may treat prolactinoma with the dopamine agonists bromocriptine (Parlodel) or cabergoline (Dostinex). Agonists are drugs that act like a naturally occurring substance. These drugs shrink the tumor and return prolactin levels to normal in approximately 80 percent of patients. Both drugs have been approved by the U.S. Food and Drug Administration for the treatment of hyperprolactinemia. Bromocriptine is the only dopamine agonist approved for the treatment of infertility. This drug has been in use longer than cabergoline and has a well-established safety record.

Nausea and dizziness are possible side effects of bromocriptine. To avoid these side effects, bromocriptine treatment must be started slowly. A typical starting dose is one-quarter to one-half of a 2.5 milligram (mg) tablet taken at bedtime with a snack. The dose is gradually increased every 3 to 7 days as needed and taken in divided doses with meals or at bedtime with a snack. Most people are successfully treated with 7.5 mg a day or less, although some people need 15 mg or more each day. Because bromocriptine is short acting, it should be taken either twice or three times daily.

Bromocriptine treatment should not be stopped without consulting a qualified endocrinologist-a doctor specializing in disorders of the hormone-producing glands. Prolactin levels rise again in most people when the drug is discontinued. In some, however, prolactin levels remain normal, so the doctor may suggest reducing or discontinuing treatment every 2 years on a trial basis.

Cabergoline is a newer drug that may be more effective than bromocriptine in normalizing prolactin levels and shrinking tumor size. Cabergoline also has less frequent and less severe side effects. Cabergoline is more expensive than bromocriptine and, being newer on the market, its long-term safety record is less well defined. As with bromocriptine therapy, nausea and dizziness are possible side effects but may be avoided if treatment is started slowly. The usual starting dose is .25 mg twice a week. The dose may be increased every 4 weeks as needed, up to 1 mg two times a week. Cabergoline should not be stopped without consulting a qualified endocrinologist.

Recent studies suggest prolactin levels are more likely to remain normal after discontinuing long-term cabergoline therapy than after discontinuing bromocriptine. More research is needed to confirm these findings.

In people taking cabergoline or bromocriptine to treat Parkinson's disease at doses more than 10 times higher than those used for prolactinomas, heart valve damage has been reported. Rare cases of valve damage have been reported in people taking low doses of cabergoline to treat hyperprolactinemia. Before starting these medications, the doctor will order an echocardiogram. An echocardiogram is a sonogram of the heart that checks the heart valves and heart function.

Because limited information exists about the risks of long-term, low-dose cabergoline use, doctors generally prescribe the lowest effective dose and periodically reassess the need for continuing therapy. People taking cabergoline who develop symptoms of shortness of breath or swelling of the feet should promptly notify their physician because these may be signs of heart valve damage.

Surgery

Surgery to remove all or part of the tumor should only be considered if medical therapy cannot be tolerated or if it fails to reduce prolactin levels, restore normal reproduction and pituitary function, and reduce tumor size. If medical therapy is only partially successful, it should be continued, possibly combined with surgery or radiation.

Most often, the tumor is removed through the nasal cavity. Rarely, if the tumor is large or has spread to nearby brain tissue, the surgeon will access the tumor through an opening in the skull.

The results of surgery depend a great deal on tumor size and prolactin levels as well as the skill and experience of the neurosurgeon. The higher the prolactin level before surgery, the lower the chance of normalizing serum prolactin. Serum is the portion of the blood used in measuring prolactin levels. In the best medical centers, surgery corrects prolactin levels in about 80 percent of patients with small tumors and a serum prolactin less than 200 nanograms per milliliter (ng/ml). A surgical cure for large tumors is lower, at 30 to 40 percent. Even in patients with large tumors that cannot be completely removed, drug therapy may be able to return serum prolactin to the normal range-20 ng/ml or less-after surgery. Depending on the size of the tumor and how much of it is removed, studies show that 20 to 50 percent will recur, usually within 5 years.

Because the results of surgery are so dependent on the skill and knowledge of the neurosurgeon, a patient should ask the surgeon about the number of operations he or she has performed to remove pituitary tumors and for success and complication rates in comparison to major medical centers. The best results come from surgeons who have performed hundreds or even thousands of such operations. To find a surgeon, contact The Pituitary Society (see For More Information).

Radiation

Rarely, radiation therapy is used if medical therapy and surgery fail to reduce prolactin levels. Depending on the size and location of the tumor, radiation is delivered in low doses over the course of 5 to 6 weeks or in a single high dose. Radiation therapy is effective about 30 percent of the time.


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[User] Is Serpiginous choroiditis inherited ?

[Assistant] Can I inherit serpiginous choroiditis if my mother has the condition? No familial predillection or propensity has been described.


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[User] What are the genetic changes related to Salih myopathy ?

[Assistant] Salih myopathy is caused by mutations in the TTN gene. This gene provides instructions for making a protein called titin, which plays an important role in skeletal and cardiac muscle function.  Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of this protein's most important jobs is to provide structure, flexibility, and stability to these cell structures. Titin also plays a role in chemical signaling and in assembling new sarcomeres.  The TTN gene mutations responsible for Salih myopathy lead to the production of an abnormally short version of titin. The defective protein disrupts the function of sarcomeres, which prevents skeletal and cardiac muscle from contracting normally. These muscle abnormalities underlie the features of Salih myopathy, including skeletal muscle weakness and dilated cardiomyopathy.


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[User] What are the treatments for mucopolysaccharidosis type VI ?

[Assistant] These resources address the diagnosis or management of mucopolysaccharidosis type VI:  - Emory University Lysosomal Storage Disease Center  - Genetic Testing Registry: Mucopolysaccharidosis type VI  - MedlinePlus Encyclopedia: Mucopolysaccharides  - National Institute of Neurological Disorders and Stroke: Mucopolysaccharidoses Fact Sheet  - National MPS Society: Treatments   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 Primary Ciliary Dyskinesia ?

[Assistant]
Unfortunately, no treatment is available yet to fix faulty airway cilia. (Cilia are tiny, hair-like structures that line the airways.) Thus, treatment for primary ciliary dyskinesia (PCD) focuses on which symptoms and complications you have.

The main goals of treating PCD are to:

Control and treat lung, sinus, and ear infections

Remove trapped mucus from the lungs and airways

Specialists Involved

Many doctors may help care for someone who has PCD. For example, a neonatologist may suspect PCD or another lung disorder if a newborn has breathing problems at birth. A neonatologist is a doctor who specializes in treating newborns.

A pediatrician may suspect PCD if a child has chronic (ongoing) sinus, ear, and/or lung infections. A pediatrician is a doctor who specializes in treating children. This type of doctor provides children with ongoing care from an early age and treats conditions such as ear infections and breathing problems.

An otolaryngologist also may help diagnose and treat PCD. This type of doctor treats ear, nose, and throat disorders and also is called an ear, nose, and throat (ENT) specialist. If a child has chronic sinus or ear infections, an ENT specialist may be involved in the child's care.

A pulmonologist may help diagnose or treat lung problems related to PCD. This type of doctor specializes in diagnosing and treating lung diseases and conditions. Most people who have PCD have lung problems at some point in their lives.

A pathologist is a doctor who specializes in identifying diseases by studying cells and tissues under a microscope. This type of doctor may help diagnose PCD by looking at cilia under a microscope.

A pathologist also may look at mucus samples to see what types of bacteria are causing infections. This information can help your doctor decide which treatments to prescribe.

Treatments for Breathing and Lung Problems

Standard treatments for breathing and lung problems in people who have PCD are chest physical therapy (CPT), exercise, and medicines.

One of the main goals of these treatments is to get you to cough. Coughing clears mucus from the airways, which is important for people who have PCD. For this reason, your doctor also may advise you to avoid medicines that suppress coughing.

Chest Physical Therapy

CPT also is called chest clapping or percussion. It involves pounding your chest and back over and over with your hands or a device to loosen the mucus from your lungs so that you can cough it up.

You might sit down or lie on your stomach with your head down while you do CPT. Gravity and force help drain the mucus from your lungs.

Some people find CPT hard or uncomfortable to do. Several devices have been made to help with CPT, such as:

An electric chest clapper, known as a mechanical percussor.

An inflatable therapy vest that uses high-frequency airwaves. The airwaves force the mucus that's deep in your lungs toward your upper airways so you can cough it up.

A small hand-held device that you breathe out through. The device causes vibrations that dislodge the mucus.

A mask that creates vibrations to help break the mucus loose from your airway walls.

Breathing techniques also may help dislodge mucus so you can cough it up. These techniques include forcing out a couple of short breaths or deeper breaths and then doing relaxed breathing. This may help loosen the mucus in your lungs and open your airways.

Exercise

Aerobic exercise that makes you breathe harder helps loosen the mucus in your airways so you can cough it up. Exercise also helps improve your overall physical condition.

Talk with your doctor about what types and amounts of exercise are safe for you or your child.

Medicines

If you have PCD, your doctor may prescribe antibiotics, bronchodilators, or anti-inflammatory medicines. These medicines help treat lung infections, open up the airways, and reduce swelling.

Antibiotics are the main treatment to prevent or treat lung infections. Your doctor may prescribe oral or intravenous (IV) antibiotics.

Oral antibiotics often are used to treat mild lung infections. For severe or hard-to-treat infections, you may be given IV antibiotics through a tube inserted into a vein.

To help decide which antibiotics you need, your doctor may send mucus samples to a pathologist. The pathologist will try to find out which bacteria are causing the infection.

Bronchodilators help open the airways by relaxing the muscles around them. You inhale these medicines. Often, they're taken just before CPT to help clear mucus from your lungs. You also may take bronchodilators before inhaling other medicines into your lungs.

Anti-inflammatory medicines can help reduce swelling in your airways that's caused by ongoing infections. These medicines may be inhaled or oral.

Treatments for Sinus and Ear Infections

To treat infections, your doctor may recommend saline nasal washes and anti-inflammatory nasal spray. If these treatments aren't enough, you may need medicines, such as antibiotics. If antibiotics don't work, surgery may be an option.

Tympanostomy (tim-pan-OS-toe-me) is a procedure in which small tubes are inserted into the eardrums to help drain mucus from the ears. This procedure may help children who have hearing problems caused by PCD.

Nasal or sinus surgery may help drain the sinuses and provide short-term relief of symptoms. However, the long-term benefits of this treatment are unclear.

Treatments for Advanced Lung Disease

People who have PCD may develop a serious lung condition called bronchiectasis. This condition often is treated with medicines, hydration (drinking plenty of fluids), and CPT.

If bronchiectasis severely affects part of your lung, surgery may be used to remove that area of lung.

In very rare cases, if other treatments haven't worked, lung transplant may be an option for severe lung disease. A lung transplant is surgery to remove a person's diseased lung and replace it with a healthy lung from a deceased donor.


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[User] What are the treatments for fumarase deficiency ?

[Assistant] These resources address the diagnosis or management of fumarase deficiency:  - Gene Review: Gene Review: Fumarate Hydratase Deficiency  - Genetic Testing Registry: Fumarase 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 is (are) Landau-Kleffner syndrome ?

[Assistant] Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG). The disorder usually occurs in children between age 2 and 8. Typically, children with LKS develop normally but then lose their language skills for no apparent reason. While many of the affected individuals have seizures, some do not. The disorder is difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/verbal processing disorder, attention deficit disorder, intellectual disability, childhood schizophrenia, or emotional/behavioral problems. Treatment for LKS usually consists of medications, such as anticonvulsants and corticosteroids, and speech therapy, which should be started promptly. The prognosis varies. Some children may have a permanent language disorder, while others may regain much of their language abilities (although it may take months or years).


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

[Assistant] Brody myopathy is a rare condition, although its exact prevalence is unknown.


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[User] What is (are) Aicardi-Goutieres syndrome type 2 ?

[Assistant] Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.


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[User] Is familial thoracic aortic aneurysm and dissection inherited ?

[Assistant] Familial TAAD is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell can be sufficient to cause the condition. In most cases, an affected person has one affected parent. However, some people who inherit an altered gene never develop the aortic abnormalities associated with the condition; this situation is known as reduced penetrance.


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[User] What are the treatments for Dowling-Degos disease ?

[Assistant] Is there a medicine that can cure Dowling-Degos disease? There is no cure for Dowling-Degos disease. Many different treatments have been tried for this condition, but none has proven effective in eliminating the symptoms for all patients. Topical retinoic acids, topical steroids, hydroquinone, tretinoin, and systemic retinoids have been used without success. Limited reports indicate at least temporary therapeutic benefit with topical adapalene. Various laser systems (CO2 and erbiumYAG) have also shown some promise.    Additional articles that address this topic can be accessed below: Altomare G, Capella GL, Fracchiolla C, Frigerio E. Effectiveness of topical adapalene in Dowling-Degos disease. Dermatology. 1999;198(2):176-7.


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[User] What are the treatments for Dihydrolipoamide dehydrogenase deficiency ?

[Assistant] How might dihydrolipoamide dehydrogenase deficiency be treated? There are currently no consensus recommendations for the management of dihydrolipoamide dehydrogenase (DLD) deficiency. Management can be hard because various metabolic pathways are affected and 3 enzyme complexes are involved. Deficiencies in enzyme pathways vary depending on the specific mutation(s) each affected person has. Unfortunately, the treatments that have been attempted in children with the early-onset neurologic form do not appear to significantly alter the course of the disease. Even with treatment, children often do not survive infancy or have varying degrees of chronic neurologic impairment if they survive the initial episode. Depending on individual enzyme complex deficiencies, treatment may involve certain dietary restrictions or certain diets; use of medical foods; and/or supplementation of specific amino acids or other substances. There is limited data for the chronic management of people with the primarily hepatic (liver-related) form of the disease. Management typically involves supportive therapy during times of acute liver injury or failure, and may include nutritional support; IV glucose for hypoglycemia; correction of metabolic acidosis; correction of coagulopathy; and avoidance of liver-toxic medications. More detailed information about the management of DLD deficiency can be viewed on the GeneReviews Web site. GeneReviews is intended for use by genetics professionals. Those not familiar with the principles discussed on the GeneReviews Web site are encouraged to speak with a genetics professional or other healthcare provider regarding information of interest.


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[User] What are the treatments for Adolescent idiopathic scoliosis ?

[Assistant] How might adolescent idiopathic scoliosis be treated? Treatment of adolescent idiopathic scoliosis may involve observation, bracing and/or surgery. Treatment recommendations are generally dependent upon the risk of curve progression. Curves progress most during the rapid growth period of the patient (adolescent or pre-adolescent growth spurt). The potential for growth is evaluated by taking into consideration the patient's age, the status of whether females have had their first menstrual period, and radiographic parameters (x-ray studies). Detailed information about these treatment options can be accessed through the Scoliosis Research Society.


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[User] What is (are) Myotonia ?

[Assistant] Myotonia is a medical term that refers to a neuromuscular condition in which the relaxation of a muscle is impaired. It can affect any muscle group. Repeated effort will be needed to relax the muscle, although the condition usually improves after the muscles have warmed-up. Individuals with myotonia may have trouble releasing their grip on objects or may have difficulty rising from a seated position. They may walk with a stiff, awkward gait. Myotonia is caused by an abnormality in the muscle membrane, and is often associated with inherited neurological disorders. Myotonia is commonly seen in individuals with myotonic muscular dystrophy, myotonia congenita, and in people who have one of a group of neurological disorders called the channelopathies, which are inherited diseases that are caused by mutations in the chloride sodium or potassium channels that regulate the muscle membrane. Myotonia may also be triggered by exposure to cold.


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[User] Is sialidosis 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) Neurofibromatosis ?

[Assistant] Neurofibromatosis (NF) is a genetic condition that causes tumors to develop in the nervous system. There are three types of neurofibromatosis that are each associated with unique signs and symptoms: Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnormalities; optic gliomas; and tumors on the nerve tissue or under the skin. Signs and symptoms are usually present at birth. Neurofibromatosis type 2 (NF2) causes acoustic neuromas; hearing loss; ringing in the ears; poor balance; brain and/or spinal tumors; and cataracts at a young age. It often starts in the teen years. Schwannomatosis causes schwannomas, pain, numbness, and weakness. It is the rarest type. All three types of NF are inherited in an autosomal dominant manner. There is no cure for neurofibromatosis. Treatment is aimed at controlling symptoms and may include surgery to remove tumors, radiation therapy and/or medicines.


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[User] How to prevent What I need to know about Erectile Dysfunction ?

[Assistant]
You can prevent many of the causes of ED by making healthy lifestyle choices. Following a healthy diet may help prevent ED. Quitting smoking and getting physical activity are also important ways to prevent ED.

Physical activity increases blood flow throughout your body, including your penis. Talk with your doctor before starting new activities. If you have not been active, start slow, with easier activities such as walking at a normal pace or gardening. Then you can work up to harder activities such as walking briskly or swimming. Try to aim for at least 30 minutes of activity most days of the week.


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[User] What are the treatments for Breast Cancer ?

[Assistant]
Key Points
                    - Treatment options for pregnant women depend on the stage of the disease and the age of the unborn baby.     - Three types of standard treatment are used:         - Surgery      - Radiation therapy      - Chemotherapy         - Ending the pregnancy does not seem to improve the mothers chance of survival.    - Treatment for breast cancer may cause side effects.

                    Treatment options for pregnant women depend on the stage of the disease and the age of the unborn baby.

                    Three types of standard treatment are used:
                    Surgery     Most pregnant women with breast cancer have surgery to remove the breast. Some of the  lymph nodes under the arm may be removed and checked under a microscope for signs of cancer.    Types of surgery to remove the cancer include:            -  Modified radical mastectomy: Surgery to remove the whole breast that has cancer, many of the lymph nodes under the arm, the lining over the chest muscles, and sometimes, part of the chest wall muscles. This type of surgery is most common in pregnant women.     -  Breast-conserving surgery: Surgery to remove the cancer and some normal tissue around it, but not the breast itself. Part of the chest wall lining may also be removed if the cancer is near it. This type of surgery may also be called lumpectomy, partial mastectomy, segmental mastectomy, quadrantectomy, or breast-sparing surgery.           Even if the doctor removes all of the cancer that can be seen at the time of surgery, the patient may be given radiation therapy or chemotherapy after surgery to try to kill any cancer cells that may be left. For pregnant women with early-stage breast cancer, radiation therapy and hormone therapy are given after the baby is born. Treatment given after surgery, to lower the risk that the cancer will come back, is called adjuvant therapy.       Radiation therapy     Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy:            -  External radiation therapy uses a machine outside the body to send radiation toward the cancer.     -  Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer.           The way the radiation therapy is given depends on the type and stage of the cancer being treated.    External radiation therapy is not given to pregnant women with early stage (stage I or II) breast cancer because it can harm the unborn baby. For women with late stage (stage III or IV) breast cancer, radiation therapy is not given during the first 3 months of pregnancy and is delayed until after the baby is born, if possible.       Chemotherapy     Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated.    Chemotherapy is usually not given during the first 3 months of pregnancy. Chemotherapy given after this time does not usually harm the unborn baby but may cause early labor and low birth weight.    See Drugs Approved for Breast Cancer for more information.

                    Ending the pregnancy does not seem to improve the mothers chance of survival.
                    Because ending the pregnancy is not likely to improve the mothers chance of survival, it is not usually a treatment option.

                    Treatment for breast cancer may cause side effects.
                    For information about side effects caused by treatment for cancer, see our Side Effects page.

		            Treatment Options by Stage

		                    Early Stage Breast Cancer (Stage I and Stage II)
		                    Treatment of early-stage breast cancer (stage I and stage II) may include the following:          -  Modified radical mastectomy.    -  Breast-conserving surgery followed by radiation therapy. In pregnant women, radiation therapy is delayed until after the baby is born.    - Modified radical mastectomy or breast-conserving surgery during pregnancy followed by chemotherapy after the first 3 months of pregnancy.

		                    Late Stage Breast Cancer (Stage III and Stage IV)
		                    Treatment of late-stage breast cancer (stage III and stage IV) may include the following:         -  Radiation therapy.    -  Chemotherapy.        Radiation therapy and chemotherapy should not be given during the first 3 months of pregnancy.


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

[User] Do you have information about Tsunamis

[Assistant] Summary : A tsunami is a series of huge ocean waves created by an underwater disturbance. Causes include earthquakes, landslides, volcanic eruptions, or meteorites--chunks of rock from space that strike the surface of Earth. A tsunami can move hundreds of miles per hour in the open ocean. It can smash into land with waves as high as 100 feet or more and cause devastating floods. Drowning is the most common cause of death related to a tsunami.    Although there are no guarantees of safety during a tsunami, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope.    Federal Emergency Management Agency


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

[User] What is (are) Dystonia ?

[Assistant] Dystonia is a movement disorder that causes involuntary contractions of your muscles. These contractions result in twisting and repetitive movements. Sometimes they are painful.    Dystonia can affect just one muscle, a group of muscles or all of your muscles. Symptoms can include tremors, voice problems or a dragging foot. Symptoms often start in childhood. They can also start in the late teens or early adulthood. Some cases worsen over time. Others are mild.    Some people inherit dystonia. Others have it because of another disease. Researchers think that dystonia may be due to a problem in the part of the brain that handles messages about muscle contractions. There is no cure. Doctors use medicines, Botox injections, surgery, physical therapy, and other treatments to reduce or eliminate muscle spasms and pain.    NIH: National Institute of Neurological Disorders and Stroke


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[User] Is Factor V Leiden thrombophilia inherited ?

[Assistant] How is factor V Leiden inherited? Factor V Leiden is a genetic condition and can be inherited from a parent. It is important to understand that each person inherits two copies of every gene, one from their mother and the other copy from their father.  Individuals who inherit one copy of the factor V Leiden mutation from a parent are called heterozygotes. Heterozygotes have a 50% chance with each pregnancy of passing the mutated gene to their offspring (and therefore they also have a 50% chance of having a child who does not inherit the gene mutation). People who inherit two copies of the mutation, one from each parent, are called homozygotes. Homozygotes will always pass one copy of the mutated gene to their offspring. If both parents are heterozygotes (carry one factor V Leiden mutation) than they would have a 25% chance of having a child with two factor V Leiden mutations, a 25% chance of having a child with no mutations, and a 50% chance of having a child with one mutation.


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[User] How many people are affected by cyclic neutropenia ?

[Assistant] Cyclic neutropenia is a rare condition and is estimated to occur in 1 in 1 million individuals worldwide.


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

[User] Who is at risk for Sleep Apnea? ?

[Assistant]
Obstructive sleep apnea is a common condition. About half of the people who have this condition are overweight.

Men are more likely than women to have sleep apnea. Although the condition can occur at any age, the risk increases as you get older. A family history of sleep apnea also increases your risk for the condition.

People who have small airways in their noses, throats, or mouths are more likely to have sleep apnea. Small airways might be due to the shape of these structures or allergies or other conditions that cause congestion.

Small children might have enlarged tonsil tissues in their throats. Enlarged tonsil tissues raise a childs risk for sleep apnea. Overweight children also might be at increased risk for sleep apnea.

About half of the people who have sleep apnea also have high blood pressure. Sleep apnea also is linked to smoking, metabolic syndrome, diabetes, and risk factors for stroke and heart failure.

Race and ethnicity might play a role in the risk of developing sleep apnea. However, more research is needed.


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[User] What are the genetic changes related to giant congenital melanocytic nevus ?

[Assistant] NRAS gene mutations cause most cases of giant congenital melanocytic nevus. Rarely, mutations in the BRAF gene are responsible for this condition.  The proteins produced from these genes are involved in a process known as signal transduction by which signals are relayed from outside the cell to the cell's nucleus. Signals relayed by the N-Ras and BRAF proteins instruct the cell to grow and divide (proliferate) or to mature and take on specialized functions (differentiate). To transmit signals, these proteins must be turned on; when the proteins are turned off, they do not relay signals to the cell's nucleus.  The NRAS or BRAF gene mutations responsible for giant congenital melanocytic nevus are somatic, meaning that they are acquired during a person's lifetime and are present only in certain cells. These mutations occur early in embryonic development during the growth and division (proliferation) of cells that develop into melanocytes. Somatic NRAS or BRAF gene mutations cause the altered protein in affected cells to be constantly turned on (constitutively active) and relaying signals. The overactive protein may contribute to the development of giant congenital melanocytic nevus by allowing cells that develop into melanocytes to grow and divide uncontrollably, starting before birth.


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[User] Is Leydig cell hypoplasia 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.  Only people who have mutations in both copies of the LHCGR gene and are genetically male (with one X and one Y chromosome in each cell) have the characteristic signs of Leydig cell hypoplasia. Although people who are genetically female (with two X chromosomes in each cell) may inherit mutations in both copies of the LHCGR gene, they do not have Leydig cell hypoplasia because they do not have Leydig cells. They have normal female genitalia and normal breast and pubic hair development, but they may begin menstruation later than usual (after age 16) and have irregular menstrual periods. LHCGR gene mutations in females also prevent ovulation, leading to inability to have children (infertility).


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[User] What are the treatments for breast cancer ?

[Assistant] These resources address the diagnosis or management of breast cancer:  - Gene Review: Gene Review: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer  - Gene Review: Gene Review: Hereditary Diffuse Gastric Cancer  - Gene Review: Gene Review: Li-Fraumeni Syndrome  - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS)  - Gene Review: Gene Review: Peutz-Jeghers Syndrome  - Genetic Testing Registry: Familial cancer of breast  - Genomics Education Programme (UK): Hereditary Breast and Ovarian Cancer  - National Cancer Institute: Breast Cancer Risk Assessment Tool  - National Cancer Institute: Genetic Testing for BRCA1 and BRCA2: It's Your Choice  - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes   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 Polycythemia Vera ?

[Assistant]
Polycythemia vera (PV) doesn't have a cure. However, treatments can help control the disease and its complications. PV is treated with procedures, medicines, and other methods. You may need one or more treatments to manage the disease.

Goals of Treatment

The goals of treating PV are to control symptoms and reduce the risk of complications, especially heart attack and stroke. To do this, PV treatments reduce the number of red blood cells and the level of hemoglobin (an iron-rich protein) in the blood. This brings the thickness of your blood closer to normal.

Blood with normal thickness flows better through the blood vessels. This reduces the chance that blood clots will form and cause a heart attack or stroke.

Blood with normal thickness also ensures that your body gets enough oxygen. This can help reduce some of the signs and symptoms of PV, such as headaches, vision problems, and itching.

Studies show that treating PV greatly improves your chances of living longer.

The goal of treating secondary polycythemia is to control its underlying cause, if possible. For example, if the cause is carbon monoxide exposure, the goal is to find the source of the carbon monoxide and fix or remove it.

Treatments To Lower Red Blood Cell Levels

Phlebotomy

Phlebotomy (fle-BOT-o-me) is a procedure that removes some blood from your body. For this procedure, a needle is inserted into one of your veins. Blood from the vein flows through an airtight tube into a sterile container or bag. The process is similar to the process of donating blood.

Phlebotomy reduces your red blood cell count and starts to bring your blood thickness closer to normal.

Typically, a pint (1 unit) of blood is removed each week until your hematocrit level approaches normal. (Hematocrit is the measure of how much space red blood cells take up in your blood.)

You may need to have phlebotomy done every few months.

Medicines

Your doctor may prescribe medicines to keep your bone marrow from making too many red blood cells. Examples of these medicines include hydroxyurea and interferon-alpha.

Hydroxyurea is a medicine generally used to treat cancer. This medicine can reduce the number of red blood cells and platelets in your blood. As a result, this medicine helps improve your blood flow and bring the thickness of your blood closer to normal.

Interferon-alpha is a substance that your body normally makes. It also can be used to treat PV. Interferon-alpha can prompt your immune system to fight overactive bone marrow cells. This helps lower your red blood cell count and keep your blood flow and blood thickness closer to normal.

Radiation Treatment

Radiation treatment can help suppress overactive bone marrow cells. This helps lower your red blood cell count and keep your blood flow and blood thickness closer to normal.

However, radiation treatment can raise your risk of leukemia (blood cancer) and other blood diseases.

Treatments for Symptoms

Aspirin can relieve bone pain and burning feelings in your hands or feet that you may have as a result of PV. Aspirin also thins your blood, so it reduces the risk of blood clots.

Aspirin can have side effects, including bleeding in the stomach and intestines. For this reason, take aspirin only as your doctor recommends.

If your PV causes itching, your doctor may prescribe medicines to ease the discomfort. Your doctor also may prescribe ultraviolet light treatment to help relieve your itching.

Other ways to reduce itching include:

Avoiding hot baths. Cooler water can limit irritation to your skin.

Gently patting yourself dry after bathing. Vigorous rubbing with a towel can irritate your skin.

Taking starch baths. Add half a box of starch to a tub of lukewarm water. This can help soothe your skin.

Experimental Treatments

Researchers are studying other treatments for PV. An experimental treatment for itching involves taking low doses of selective serotonin reuptake inhibitors (SSRIs). This type of medicine is used to treat depression. In clinical trials, SSRIs reduced itching in people who had PV.

Imatinib mesylate is a medicine that's approved for treating leukemia. In clinical trials, this medicine helped reduce the need for phlebotomy in people who had PV. This medicine also helped reduce the size of enlarged spleens.

Researchers also are trying to find a treatment that can block or limit the effects of an abnormal JAK2 gene. (A mutation, or change, in the JAK2 gene is the major cause of PV.)


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[User] How to diagnose Human T-cell leukemia virus type 2 ?

[Assistant] How is human T-cell leukemia virus, type 2 diagnosed? Human T-cell leukemia virus, type 2 (HTLV-2) is usually diagnosed based on blood tests that detect antibodies to the virus. However, HTLV-2 is often never suspected or diagnosed since most people never develop any signs or symptoms of the infection. Diagnosis may occur during screening for blood donation, testing performed due to a family history of the infection, or a work-up for an HTLV-2-associated medical problems.


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[User] What is (are) geleophysic dysplasia ?

[Assistant] Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin.  People with geleophysic dysplasia have short stature with very short hands and feet. Most also develop thickened skin and joint deformities called contractures, both of which significantly limit mobility. Affected individuals usually have a limited range of motion in their fingers, toes, wrists, and elbows. Additionally, contractures in the legs and hips cause many affected people to walk on their toes.  The name of this condition, which comes from the Greek words for happy ("gelios") and nature ("physis"), is derived from the good-natured facial appearance seen in most affected individuals. The distinctive facial features associated with this condition include a round face with full cheeks, a small nose with upturned nostrils, a broad nasal bridge, a thin upper lip, upturned corners of the mouth, and a flat area between the upper lip and the nose (philtrum).  Geleophysic dysplasia is also characterized by heart (cardiac) problems, particularly abnormalities of the cardiac valves. These valves normally control the flow of blood through the heart. In people with geleophysic dysplasia, the cardiac valves thicken, which impedes blood flow and increases blood pressure in the heart. Other heart problems have also been reported in people with geleophysic dysplasia; these include a narrowing of the artery from the heart to the lungs (pulmonary stenosis) and a hole between the two upper chambers of the heart (atrial septal defect).  Other features of geleophysic dysplasia can include an enlarged liver (hepatomegaly) and recurrent respiratory and ear infections. In severe cases, a narrowing of the windpipe (tracheal stenosis) can cause serious breathing problems. As a result of heart and respiratory abnormalities, geleophysic dysplasia is often life-threatening in childhood. However, some affected people have lived into adulthood.


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[User] Is Dentinogenesis imperfecta inherited ?

[Assistant] How do people inherit dentinogenesis imperfecta? Dentinogenesis imperfecta is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.


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[User] Is Mainzer-Saldino syndrome inherited ?

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


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

[User] What causes Parkinson disease ?

[Assistant] What causes Parkinson disease? Parkinson disease occurs when the nerve cells in the brain that make dopamine, a chemical messenger which transmits signals within the brain to produce smooth physical movements, are slowly destroyed. Without dopamine, the nerve cells in the part of the brain known as the substantia nigra cannot properly send messages. This leads to progressive loss of muscle function. Exactly why these brain cells waste away is unknown. Recent studies have shown that people with Parkinson disease also experience damage to the nerve endings that produce the neurotransmitter norepinephrine. Norepinephrine, which is closely related to dopamine, is the main chemical messenger of the sympathetic nervous system, the part of the nervous system that controls the automatic functions of the body, including pulse and blood pressure. The loss of norepinephrine may explain some of the non-motor features seen in Parkinson disease, including fatigue and problems with blood pressure regulation.  More detailed information about the cause of Parkinson disease is available through an information page developed by the National Institute of Neurological Disorders and Stroke (NINDS). Click here to view this information.


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[User] What are the treatments for Sleep Apnea ?

[Assistant]
Sleep apnea is treated with lifestyle changes, mouthpieces, breathing devices, and surgery. Medicines typically aren't used to treat the condition.

The goals of treating sleep apnea are to:

Restore regular breathing during sleep

Relieve symptoms such as loud snoring and daytime sleepiness

Treatment may improve other medical problems linked to sleep apnea, such as high blood pressure. Treatment also can reduce your risk for heart disease,stroke, and diabetes.

If you have sleep apnea, talk with your doctor or sleep specialist about the treatment options that will work best for you.

Lifestyle changes and/or mouthpieces may relieve mild sleep apnea. People who have moderate or severe sleep apnea may need breathing devices or surgery.

If you continue to have daytime sleepiness despite treatment, your doctor may ask whether you're getting enough sleep. (Adults should get at least 7 to 8 hours of sleep; children and teens need more. For more information, go to the Health Topics Sleep Deprivation and Deficiency article.)

If treatment and enough sleep don't relieve your daytime sleepiness, your doctor will consider other treatment options.

Lifestyle Changes

If you have mild sleep apnea, some changes in daily activities or habits might be all the treatment you need.

Avoid alcohol and medicines that make you sleepy. They make it harder for your throat to stay open while you sleep.

Lose weight if you're overweight or obese. Even a little weight loss can improve your symptoms.

Sleep on your side instead of your back to help keep your throat open. You can sleep with special pillows or shirts that prevent you from sleeping on your back.

Keep your nasal passages open at night with nasal sprays or allergy medicines, if needed. Talk with your doctor about whether these treatments might help you.

If you smoke, quit. Talk with your doctor about programs and products that can help you quit smoking.

Mouthpieces

A mouthpiece, sometimes called an oral appliance, may help some people who have mild sleep apnea. Your doctor also may recommend a mouthpiece if you snore loudly but don't have sleep apnea.

A dentist or orthodontist can make a custom-fit plastic mouthpiece for treating sleep apnea. (An orthodontist specializes in correcting teeth or jaw problems.) The mouthpiece will adjust your lower jaw and your tongue to help keep your airways open while you sleep.

If you use a mouthpiece, tell your doctor if you have discomfort or pain while using the device. You may need periodic office visits so your doctor can adjust your mouthpiece to fit better.

Breathing Devices

CPAP (continuous positive airway pressure) is the most common treatment for moderate to severe sleep apnea in adults. A CPAP machine uses a mask that fits over your mouth and nose, or just over your nose.

The machine gently blows air into your throat. The pressure from the air helps keep your airway open while you sleep.

Treating sleep apnea may help you stop snoring. But not snoring doesn't mean that you no longer have sleep apnea or can stop using CPAP. Your sleep apnea will return if you stop using your CPAP machine or dont use it correctly.

Usually, a technician will come to your home to bring the CPAP equipment. The technician will set up the CPAP machine and adjust it based on your doctor's prescription. After the initial setup, you may need to have the CPAP adjusted from time to time for the best results.

CPAP treatment may cause side effects in some people. These side effects include a dry or stuffy nose, irritated skin on your face, dry mouth, and headaches. If your CPAP isn't adjusted properly, you may get stomach bloating and discomfort while wearing the mask.

If you're having trouble with CPAP side effects, work with your sleep specialist, his or her nursing staff, and the CPAP technician. Together, you can take steps to reduce the side effects.

For example, the CPAP settings or size/fit of the mask might need to be adjusted. Adding moisture to the air as it flows through the mask or using nasal spray can help relieve a dry, stuffy, or runny nose.

There are many types of CPAP machines and masks. Tell your doctor if you're not happy with the type you're using. He or she may suggest switching to a different type that might work better for you.

People who have severe sleep apnea symptoms generally feel much better once they begin treatment with CPAP.

Surgery

Some people who have sleep apnea might benefit from surgery. The type of surgery and how well it works depend on the cause of the sleep apnea.

Surgery is done to widen breathing passages. It usually involves shrinking, stiffening, or removing excess tissue in the mouth and throat or resetting the lower jaw.

Surgery to shrink or stiffen excess tissue is done in a doctor's office or a hospital. Shrinking tissue may involve small shots or other treatments to the tissue. You may need a series of treatments to shrink the excess tissue. To stiffen excess tissue, the doctor makes a small cut in the tissue and inserts a piece of stiff plastic.

Surgery to remove excess tissue is done in a hospital. You're given medicine to help you sleep during the surgery. After surgery, you may have throat pain that lasts for 1 to 2 weeks.

Surgery to remove the tonsils, if they're blocking the airway, might be helpful for some children. Your child's doctor may suggest waiting some time to see whether these tissues shrink on their own. This is common as small children grow.


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[User] What are the treatments for Chronic Myelomonocytic Leukemia ?

[Assistant] Treatment of chronic myelomonocytic leukemia (CMML) may include the following:         -  Chemotherapy with one or more agents.    -  Stem cell transplant.    - A clinical trial of a new treatment.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with chronic myelomonocytic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.


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[User] What are the treatments for Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) ?

[Assistant]
Key Points
                    - There are different types of treatment for patients with pancreatic NETs.     - Six types of standard treatment are used:         - Surgery     - Chemotherapy     - Hormone therapy     - Hepatic arterial occlusion or chemoembolization     - Targeted therapy     - Supportive care        - New types of treatment are being tested in clinical trials.    - Patients may want to think about taking part in a clinical trial.    - Patients can enter clinical trials before, during, or after starting their cancer treatment.    - Follow-up tests may be needed.

                    There are different types of treatment for patients with pancreatic NETs.
                    Different types of treatments are available for patients with pancreatic neuroendocrine tumors (NETs). Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.

                    Six types of standard treatment are used:
                    Surgery     An operation may be done to remove the tumor. One of the following types of surgery may be used:            -  Enucleation: Surgery to remove the tumor only. This may be done when cancer occurs in one place in the pancreas.     -  Pancreatoduodenectomy: A surgical procedure in which the head of the pancreas, the gallbladder, nearby lymph nodes and part of the stomach, small intestine, and bile duct are removed. Enough of the pancreas is left to make digestive juices and insulin. The organs removed during this procedure depend on the patient's condition. This is also called the Whipple procedure.     -  Distal pancreatectomy: Surgery to remove the body and tail of the pancreas. The spleen may also be removed.     - Total gastrectomy: Surgery to remove the whole stomach.     -  Parietal cell vagotomy: Surgery to cut the nerve that causes stomach cells to make acid.     -  Liver resection: Surgery to remove part or all of the liver.     -  Radiofrequency ablation: The use of a special probe with tiny electrodes that kill cancer cells. Sometimes the probe is inserted directly through the skin and only local anesthesia is needed. In other cases, the probe is inserted through an incision in the abdomen. This is done in the hospital with general anesthesia.      -  Cryosurgical ablation: A procedure in which tissue is frozen to destroy abnormal cells. This is usually done with a special instrument that contains liquid nitrogen or liquid carbon dioxide. The instrument may be used during surgery or laparoscopy or inserted through the skin. This procedure is also called cryoablation.               Chemotherapy     Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is the use of more than one anticancer drug. The way the chemotherapy is given depends on the type of the cancer being treated.       Hormone therapy     Hormone therapy is a cancer treatment that removes hormones or blocks their action and stops cancer cells from growing. Hormones are substances made by glands in the body and circulated in the bloodstream. Some hormones can cause certain cancers to grow. If tests show that the cancer cells have places where hormones can attach (receptors), drugs, surgery, or radiation therapy is used to reduce the production of hormones or block them from working.       Hepatic arterial occlusion or chemoembolization     Hepatic arterial occlusion uses drugs, small particles, or other agents to block or reduce the flow of blood to the liver through the hepatic artery (the major blood vessel that carries blood to the liver). This is done to kill cancer cells growing in the liver. The tumor is prevented from getting the oxygen and nutrients it needs to grow. The liver continues to receive blood from the hepatic portal vein, which carries blood from the stomach and intestine.    Chemotherapy delivered during hepatic arterial occlusion is called chemoembolization. The anticancer drug is injected into the hepatic artery through a catheter (thin tube). The drug is mixed with the substance that blocks the artery and cuts off blood flow to the tumor. Most of the anticancer drug is trapped near the tumor and only a small amount of the drug reaches other parts of the body.    The blockage may be temporary or permanent, depending on the substance used to block the artery.        Targeted therapy     Targeted therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Certain types of targeted therapies are being studied in the treatment of pancreatic NETs.       Supportive care     Supportive care is given to lessen the problems caused by the disease or its treatment. Supportive care for pancreatic NETs may include treatment for the following:            - Stomach ulcers may be treated with drug therapy such as:                  -  Proton pump inhibitor drugs such as omeprazole, lansoprazole, or pantoprazole.       - Histamine blocking drugs such as cimetidine, ranitidine, or famotidine.       - Somatostatin-type drugs such as octreotide.                -  Diarrhea may be treated with:                   -  Intravenous (IV) fluids with electrolytes such as potassium or chloride.        - Somatostatin-type drugs such as octreotide.                - Low blood sugar may be treated by having small, frequent meals or with drug therapy to maintain a normal blood sugar level.     -  High blood sugar may be treated with drugs taken by mouth or insulin by injection.

                    New types of treatment are being tested in clinical trials.
                    Information about clinical trials is available from the NCI website.

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

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

                    Follow-up tests may be needed.
                    Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests.   Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.

		            Treatment Options for Pancreatic Neuroendocrine Tumors

		                    Gastrinoma
		                    Treatment of gastrinoma may include supportive care and the following:         - For symptoms caused by too much stomach acid, treatment may be a drug that decreases the amount of acid made by the stomach.    - For a single tumor in the head of the pancreas:               -  Surgery to remove the tumor.      - Surgery to cut the nerve that causes stomach cells to make acid and treatment with a drug that decreases stomach acid.      - Surgery to remove the whole stomach (rare).             - For a single tumor in the body or tail of the pancreas, treatment is usually surgery to remove the body or tail of the pancreas.     - For several tumors in the pancreas, treatment is usually surgery to remove the body or tail of the pancreas. If tumor remains after surgery, treatment may include either:               - Surgery to cut the nerve that causes stomach cells to make acid and treatment with a drug that decreases stomach acid; or      - Surgery to remove the whole stomach (rare).             - For one or more tumors in the duodenum (the part of the small intestine that connects to the stomach), treatment is usually pancreatoduodenectomy (surgery to remove the head of the pancreas, the gallbladder, nearby lymph nodes and part of the stomach, small intestine, and bile duct).    - If no tumor is found, treatment may include the following:               - Surgery to cut the nerve that causes stomach cells to make acid and treatment with a drug that decreases stomach acid.      - Surgery to remove the whole stomach (rare).             - If the cancer has spread to the liver, treatment may include:               - Surgery to remove part or all of the liver.      -  Radiofrequency ablation or cryosurgical ablation.      -  Chemoembolization.             - If cancer has spread to other parts of the body or does not get better with surgery or drugs to decrease stomach acid, treatment may include:               -  Chemotherapy.      -  Hormone therapy.             - If the cancer mostly affects the liver and the patient has severe symptoms from hormones or from the size of tumor, treatment may include:               -  Hepatic arterial occlusion, with or without systemic chemotherapy.      - Chemoembolization, with or without systemic chemotherapy.                 Check the list of NCI-supported cancer clinical trials that are now accepting patients with gastrinoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.

		                    Insulinoma
		                    Treatment of insulinoma may include the following:         - For one small tumor in the head or tail of the pancreas, treatment is usually surgery to remove the tumor.    - For one large tumor in the head of the pancreas that cannot be removed by surgery, treatment is usually pancreatoduodenectomy (surgery to remove the head of the pancreas, the gallbladder, nearby lymph nodes and part of the stomach, small intestine, and bile duct).     - For one large tumor in the body or tail of the pancreas, treatment is usually a distal pancreatectomy (surgery to remove the body and tail of the pancreas).    - For more than one tumor in the pancreas, treatment is usually surgery to remove any tumors in the head of the pancreas and the body and tail of the pancreas.    - For tumors that cannot be removed by surgery, treatment may include the following:               -  Combination chemotherapy.      -  Palliative drug therapy to decrease the amount of insulin made by the pancreas.      -  Hormone therapy.      - Radiofrequency ablation or cryosurgical ablation.             - For cancer that has spread to lymph nodes or other parts of the body, treatment may include the following:               - Surgery to remove the cancer.       -  Radiofrequency ablation or cryosurgical ablation, if the cancer cannot be removed by surgery.             - If the cancer mostly affects the liver and the patient has severe symptoms from hormones or from the size of tumor, treatment may include:               -  Hepatic arterial occlusion, with or without systemic chemotherapy.      -  Chemoembolization, with or without systemic chemotherapy.                 Check the list of NCI-supported cancer clinical trials that are now accepting patients with insulinoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.

		                    Glucagonoma
		                    Treatment may include the following:          - For one small tumor in the head or tail of the pancreas, treatment is usually surgery to remove the tumor.    - For one large tumor in the head of the pancreas that cannot be removed by surgery, treatment is usually pancreatoduodenectomy (surgery to remove the head of the pancreas, the gallbladder, nearby lymph nodes and part of the stomach, small intestine, and bile duct).    - For more than one tumor in the pancreas, treatment is usually surgery to remove the tumor or surgery to remove the body and tail of the pancreas.    - For tumors that cannot be removed by surgery, treatment may include the following:               -  Combination chemotherapy.      -  Hormone therapy.      -  Radiofrequency ablation or cryosurgical ablation.             - For cancer that has spread to lymph nodes or other parts of the body, treatment may include the following:               - Surgery to remove the cancer.       - Radiofrequency ablation or cryosurgical ablation, if the cancer cannot be removed by surgery.             - If the cancer mostly affects the liver and the patient has severe symptoms from hormones or from the size of tumor, treatment may include:               -  Hepatic arterial occlusion, with or without systemic chemotherapy.      -  Chemoembolization, with or without systemic chemotherapy.                 Check the list of NCI-supported cancer clinical trials that are now accepting patients with glucagonoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.

		                    Other Pancreatic Neuroendocrine Tumors (Islet Cell Tumors)
		                    For VIPoma, treatment may include the following:         -  Fluids and hormone therapy to replace fluids and electrolytes that have been lost from the body.    -  Surgery to remove the tumor and nearby lymph nodes.    - Surgery to remove as much of the tumor as possible when the tumor cannot be completely removed or has spread to distant parts of the body. This is palliative therapy to relieve symptoms and improve the quality of life.     - For tumors that have spread to lymph nodes or other parts of the body, treatment may include the following:               - Surgery to remove the tumor.       -  Radiofrequency ablation or cryosurgical ablation, if the tumor cannot be removed by surgery.             - For tumors that continue to grow during treatment or have spread to other parts of the body, treatment may include the following:               -  Chemotherapy.      -  Targeted therapy.                  For somatostatinoma, treatment may include the following:         - Surgery to remove the tumor.    - For cancer that has spread to distant parts of the body, surgery to remove as much of the cancer as possible to relieve symptoms and improve quality of life.    - For tumors that continue to grow during treatment or have spread to other parts of the body, treatment may include the following:               - Chemotherapy.      - Targeted therapy.                  Treatment of other types of pancreatic neuroendocrine tumors (NETs) may include the following:         - Surgery to remove the tumor.    - For cancer that has spread to distant parts of the body, surgery to remove as much of the cancer as possible or hormone therapy to relieve symptoms and improve quality of life.    - For tumors that continue to grow during treatment or have spread to other parts of the body, treatment may include the following:               - Chemotherapy.      - Targeted therapy.                 Check the list of NCI-supported cancer clinical trials that are now accepting patients with islet cell tumor. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.

		                    Recurrent or Progressive Pancreatic Neuroendocrine Tumors (Islet Cell Tumors)
		                    Treatment of pancreatic neuroendocrine tumors (NETs) that continue to grow during treatment or recur (come back) may include the following:         -  Surgery to remove the tumor.    -  Chemotherapy.    -  Hormone therapy.    -  Targeted therapy.    - For liver metastases:               -  Regional chemotherapy.      -  Hepatic arterial occlusion or chemoembolization, with or without systemic chemotherapy.             - A clinical trial of a new therapy.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with recurrent islet cell carcinoma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.


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

[User] What is (are) Deep Vein Thrombosis ?

[Assistant] Deep vein thrombosis, or DVT, is a blood clot that forms in a vein deep in the body. Most deep vein clots occur in the lower leg or thigh. If the vein swells, the condition is called thrombophlebitis. A deep vein thrombosis can break loose and cause a serious problem in the lung, called a pulmonary embolism.    Sitting still for a long time can make you more likely to get a DVT. Some medicines and disorders that increase your risk for blood clots can also lead to DVTs. Common symptoms are        -  Warmth and tenderness over the vein     -  Pain or swelling in the part of the body affected     -  Skin redness        Treatment includes medicines to ease pain and inflammation, break up clots and keep new clots from forming. Keeping the affected area raised and applying moist heat can also help. If you are taking a long car or plane trip, take a break, walk or stretch your legs and drink plenty of liquids.


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[User] What are the treatments for Northern epilepsy ?

[Assistant] These resources address the diagnosis or management of Northern epilepsy:  - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses  - Genetic Testing Registry: Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] Is blepharophimosis, ptosis, and epicanthus inversus syndrome inherited ?

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


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[User] Is Gillespie syndrome inherited ?

[Assistant] In some cases, including those in which Gillespie syndrome is caused by PAX6 gene mutations, the condition occurs in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected individuals 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.  Gillespie syndrome can also be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The gene or genes involved in these cases are unknown. 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) Infertility ?

[Assistant] Infertility means not being able to become pregnant after a year of trying. If a woman can get pregnant but keeps having miscarriages or stillbirths, that's also called infertility.    Infertility is fairly common. After one year of having unprotected sex, about 15 percent of couples are unable to get pregnant. About a third of the time, infertility can be traced to the woman. In another third of cases, it is because of the man. The rest of the time, it is because of both partners or no cause can be found.    There are treatments that are specifically for men or for women. Some involve both partners. Drugs, assisted reproductive technology, and surgery are common treatments. Happily, many couples treated for infertility go on to have babies.    NIH: National Institute of Child Health and Human Development


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[User] What is (are) Pigmented villonodular synovitis ?

[Assistant] Pigmented villonodular synovitis (PVNS) is a disease in which the tissue lining the joints and tendons in the body (synovium) grows abnormally. It is characterized by a noncancerous mass or tumor. There are two types of PVNS: the local or nodular form (where the tumor involves the tendons that support the joint, or in one area of the joint) and the diffuse form (where the entire lining of the joint is involved). Symptoms might include: pain, limitation of movement, and locking of the joint. In some cases, the normal joint structure can be destroyed. The knee is most commonly affected by this condition, though it can occur in other joints such as the hip, shoulder, elbow, ankle, wrist, and rarely the jaw. The average age of diagnosis for this condition is 35 years. The cause of PVNS is grossly unknown. Treatment involves surgery to remove the tumor and damaged portions of the synovium.


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[User] what research (or clinical trials) is being done for Childhood Acute Lymphoblastic Leukemia ?

[Assistant]
New types of treatment are being tested in clinical trials.
                    This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website.     Chimeric antigen receptor (CAR) T-cell therapy     CAR T-cell therapy is a type of immunotherapy that changes the patient's T cells (a type of immune system cell) so they will attack certain proteins on the surface of cancer cells. T cells are taken from the patient and special receptors are added to their surface in the laboratory. The changed cells are called chimeric antigen receptor (CAR) T cells. The CAR T cells are grown in the laboratory and given to the patient by infusion. The CAR T cells multiply in the patient's blood and attack cancer cells. CAR T-cell therapy is being studied in the treatment of childhood ALL that has relapsed (come back) a second time.

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

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


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[User] What is (are) Noonan-like syndrome with loose anagen hair ?

[Assistant] Noonan-like syndrome with loose anagen hair is characterized  by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and slow-growing). Other features include frequent congenital heart defects, distinctive skin features (darkly pigmented skin with eczema or ichthyosis), short stature which may be associated with a growth hormone deficiency, and developmental delays. The condition is caused by mutations in the SHOC2 gene. It follows an autosomal dominant pattern of inheritance.


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[User] What is the outlook for Hairy Cell Leukemia ?

[Assistant] Certain factors affect treatment options and prognosis (chance of recovery). The treatment options may depend on the following:         - The number of hairy (leukemia) cells and healthy blood cells in the blood and bone marrow.    - Whether the spleen is swollen.    - Whether there are signs or symptoms of leukemia, such as infection.    - Whether the leukemia has recurred (come back) after previous treatment.        The prognosis (chance of recovery) depends on the following:         - Whether the hairy cell leukemia does not grow or grows so slowly it does not need treatment.    - Whether the hairy cell leukemia responds to treatment.        Treatment often results in a long-lasting remission (a period during which some or all of the signs and symptoms of the leukemia are gone). If the leukemia returns after it has been in remission, retreatment often causes another remission.


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[User] What is (are) Pituitary Tumors ?

[Assistant] Your pituitary gland is a pea-sized gland at the base of your brain. The pituitary is the "master control gland" - it makes hormones that affect growth and the functions of other glands in the body.     Pituitary tumors are common, but often they don't cause health problems. Most people with pituitary tumors never even know they have them. The most common type of pituitary tumor produces hormones and disrupts the balance of hormones in your body. This can cause endocrine diseases such as Cushing's syndrome and hyperthyroidism.    Symptoms of pituitary tumors include       - Headaches     - Vision problems    - Nausea and vomiting    - Problems caused by the production of too many hormones       Pituitary tumors are usually curable. Treatment is often surgery to remove the tumor. Other options include medicines, radiation therapy, and chemotherapy.


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[User] What is (are) oral-facial-digital syndrome ?

[Assistant] Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).  Researchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder.  The signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability.  Abnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums.  Distinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism).  Abnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome.  Other features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.


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[User] What are the treatments for Barth syndrome ?

[Assistant] These resources address the diagnosis or management of Barth syndrome:  - Cleveland Clinic: Dilated Cardiomyopathy  - Gene Review: Gene Review: Barth Syndrome  - Genetic Testing Registry: 3-Methylglutaconic aciduria type 2  - Johns Hopkins Children's Center: Neutrophil Disorders  - MedlinePlus Encyclopedia: Neutropenia--Infants   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 Factor V Leiden thrombophilia ?

[Assistant] How might factor V Leiden be treated? The management of individuals with factor V Leiden depends on the clinical circumstances. People with factor V Leiden who have had a deep venous thrombosis (DVT) or pulmonary embolism (PE) are usually treated with blood thinners, or anticoagulants. Anticoagulants such as heparin and warfarin are given for varying amounts of time depending on the person's situation. It is not usually recommended that people with factor V Leiden be treated lifelong with anticoagulants if they have had only one DVT or PE, unless there are additional risk factors present. Having had a DVT or PE in the past increases a person's risk for developing another one in the future, but having factor V Leiden does not seem to add to the risk of having a second clot. In general, individuals who have factor V Leiden but have never had a blood clot are not routinely treated with an anticoagulant. Rather, these individuals are counseled about reducing or eliminating other factors that may add to one's risk of developing a clot in the future. In addition, these individuals may require temporary treatment with an anticoagulant during periods of particularly high risk, such as major surgery. Factor V Leiden increases the risk of developing a DVT during pregnancy by about seven-fold. Women with factor V Leiden who are planning pregnancy should discuss this with their obstetrician and/or hematologist. Most women with factor V Leiden have normal pregnancies and only require close follow-up during pregnancy. For those with a history of DVT or PE, treatment with an anticoagulant during a subsequent pregnancy can prevent recurrent problems.


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[User] Is Allan-Herndon-Dudley syndrome inherited ?

[Assistant] This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. She can pass on the mutated gene, but usually does not experience signs and symptoms of the disorder. Carriers of SLC16A2 mutations have normal intelligence and do not experience problems with movement. Some carriers have been diagnosed with thyroid disease, a condition which is relatively common in the general population. It is unclear whether thyroid disease is related to SLC16A2 gene mutations in these cases.


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[User] What causes Serpiginous choroiditis ?

[Assistant] What causes serpiginous choroiditis? The cause of serpiginous choroiditis is unknown. Speculation exists regarding an association with exposure to various toxic compounds and/or infectious agents. Some researchers believe the condition is related to an organ-specific autoimmune inflammatory process.