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

[User] What are the treatments for frontotemporal dementia with parkinsonism-17 ?

[Assistant] These resources address the diagnosis or management of FTDP-17:  - Gene Review: Gene Review: MAPT-Related Disorders  - Genetic Testing Registry: Frontotemporal dementia   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 lymphangioleiomyomatosis ?

[Assistant] These resources address the diagnosis or management of LAM:  - Canadian Lung Association  - Genetic Testing Registry: Lymphangiomyomatosis  - Merck Manual for Healthcare Professionals  - National Heart, Lung, and Blood Institute: How is LAM Diagnosed?  - National Heart, Lung, and Blood Institute: How is LAM Treated?   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] How many people are affected by beta-ureidopropionase deficiency ?

[Assistant] The prevalence of beta-ureidopropionase deficiency is unknown. A small number of affected individuals from populations around the world have been described in the medical literature. In Japan, the prevalence of beta-ureidopropionase deficiency has been estimated as 1 in 6,000 people. Researchers suggest that in many affected individuals with absent or mild neurological problems, the condition may never be diagnosed.


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[User] What is (are) Mntriers Disease ?

[Assistant]
Mntriers disease causes the ridges along the inside of the stomach wallcalled rugaeto enlarge, forming giant folds in the stomach lining. The rugae enlarge because of an overgrowth of mucous cells in the stomach wall.

In a normal stomach, mucous cells in the rugae release protein-containing mucus. The mucous cells in enlarged rugae release too much mucus, causing proteins to leak from the blood into the stomach. This shortage of protein in the blood is known as hypoproteinemia. Mntriers disease also reduces the number of acid-producing cells in the stomach, which decreases stomach acid.

Mntriers disease is also called Mntrier disease or hypoproteinemic hypertrophic gastropathy.


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[User] How many people are affected by primary ciliary dyskinesia ?

[Assistant] Primary ciliary dyskinesia occurs in approximately 1 in 16,000 individuals.


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[User] How to prevent Heart Failure ?

[Assistant]
You can take steps to prevent heart failure. The sooner you start, the better your chances of preventing or delaying the condition.

For People Who Have Healthy Hearts

If you have a healthy heart, you can take action to prevent heart disease and heart failure. To reduce your risk of heart disease:

Avoid using illegal drugs.

Be physically active. The more active you are, the more you will benefit.

Follow a heart-healthy eating plan.

If yousmoke, make an effort to quit. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke.

Maintain a healthy weight. Work with your health care team to create a reasonable weight-loss plan.

For People Who Are at High Risk for Heart Failure

Even if youre at high risk for heart failure, you can take steps to reduce your risk. People at high risk include those who have coronary heart disease,high blood pressure, ordiabetes.

Follow all of the steps listed above. Talk with your doctor about what types and amounts of physical activity are safe for you.

Treat and control any conditions that can cause heart failure. Take medicines as your doctor prescribes.

Avoid drinking alcohol.

See your doctor for ongoing care.

For People Who Have Heart Damage but No Signs of Heart Failure

If you have heart damage but no signs of heart failure, you can still reduce your risk of developing the condition. In addition to the steps above, take your medicines as prescribed to reduce your hearts workload.


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[User] What is (are) Benign Essential Blepharospasm ?

[Assistant] Benign essential blepharospasm (BEB) is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of dystonia, a movement disorder in which muscle contractions cause sustained eyelid closure, twitching or repetitive movements. BEB begins gradually with increased frequency of eye blinking often associated with eye irritation. Other symptoms may include increasing difficulty in keeping the eyes open, and light sensitivity. Generally, the spasms occur during the day, disappear in sleep, and reappear after waking. As the condition progresses, the spasms may intensify, forcing the eyelids to remain closed for long periods of time, and thereby causing substantial visual disturbance or functional blindness. It is important to note that the blindness is caused solely by the uncontrollable closing of the eyelids and not by a dysfunction of the eyes. BEB occurs in both men and women, although it is especially common in middle-aged and elderly women.


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

[Assistant] Jacobsen syndrome is caused by a deletion of genetic material at the end of the long (q) arm of chromosome 11. The size of the deletion varies among affected individuals, with most affected people missing 5 million to 16 million DNA building blocks (also written as 5 Mb to 16 Mb). In almost all affected people, the deletion includes the tip of chromosome 11. Larger deletions tend to cause more severe signs and symptoms than smaller deletions.  The features of Jacobsen syndrome are likely related to the loss of multiple genes on chromosome 11. Depending on its size, the deleted region can contain from about 170 to more than 340 genes. Many of these genes have not been well characterized. However, genes in this region appear to be critical for the normal development of many parts of the body, including the brain, facial features, and heart. Only a few genes have been studied as possible contributors to the specific features of Jacobsen syndrome; researchers are working to determine which additional genes may be associated with this condition.


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[User] What are the genetic changes related to hyperkalemic periodic paralysis ?

[Assistant] Mutations in the SCN4A gene can cause hyperkalemic periodic paralysis. The SCN4A gene provides instructions for making a protein that plays an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. One of the changes that helps trigger muscle contractions is the flow of positively charged atoms (ions), including sodium, into muscle cells. The SCN4A protein forms channels that control the flow of sodium ions into these cells.  Mutations in the SCN4A gene alter the usual structure and function of sodium channels. The altered channels stay open too long or do not stay closed long enough, allowing more sodium ions to flow into muscle cells. This increase in sodium ions triggers the release of potassium from muscle cells, which causes more sodium channels to open and stimulates the flow of even more sodium ions into these cells. These changes in ion transport reduce the ability of skeletal muscles to contract, leading to episodes of muscle weakness or paralysis.  In 30 to 40 percent of cases, the cause of hyperkalemic periodic paralysis is unknown. Changes in other genes, which have not been identified, likely cause the disorder in these cases.


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[User] Is aromatic l-amino acid decarboxylase deficiency inherited ?

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


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[User] What is (are) Periventricular heterotopia ?

[Assistant] Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during the early development of the fetal brain from about the 6th week to the 24th week of pregnancy. Affected people typically develop recurrent seizures (epilepsy) beginning in mid-adolescence. Intelligence is generally normal; however, some affected people may have mild intellectual disability, including difficulty with reading and/or spelling. Less common signs and symptoms include microcephaly, developmental delay, recurrent infections, and blood vessel abnormalities. Some cases are caused by changes (mutations) in the FLNA gene and are inherited in an X-linked dominant manner. Others are caused by mutations in the ARFGEF2 gene and are inherited in an autosomal recessive manner. Rarely, periventricular heterotopia is associated with duplication of genetic material on chromosome 5. Treatment is generally focused on managing recurrent seizures with medications.


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[User] What are the treatments for hereditary neuropathy with liability to pressure palsies ?

[Assistant] These resources address the diagnosis or management of hereditary neuropathy with liability to pressure palsies:  - Gene Review: Gene Review: Hereditary Neuropathy with Liability to Pressure Palsies  - Genetic Testing Registry: Hereditary liability to pressure palsies  - MedlinePlus Encyclopedia: carpal tunnel 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] Is erythrokeratodermia variabilis et progressiva inherited ?

[Assistant] EKVP is most often inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new gene mutations and occur in people with no history of the disorder in their family.  A few studies have suggested that EKVP can also have an autosomal recessive pattern of inheritance. However, this inheritance pattern has only been reported in a small number of affected families, and not all researchers agree that it is truly autosomal recessive. Autosomal recessive inheritance means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


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[User] What are the treatments for Brachial Plexus Injuries ?

[Assistant] Some brachial plexus injuries may heal without treatment. Many children who are injured during birth improve or recover by 3 to 4 months of age. Treatment for brachial plexus injuries includes physical therapy and, in some cases, surgery.


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[User] What is the outlook for Tay-Sachs Disease ?

[Assistant] Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.


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[User] What are the symptoms of Pulmonary venous return anomaly ?

[Assistant] What are the signs and symptoms of Pulmonary venous return anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary venous return anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cardiac septa 90% Anomalous pulmonary venous return 90% Respiratory insufficiency 7.5% Tapered distal phalanges of finger 5% Aplasia/Hypoplasia of the nails - Autosomal dominant inheritance - Pulmonary hypertension - Recurrent respiratory infections - Total anomalous pulmonary venous return - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for ring chromosome 20 syndrome ?

[Assistant] These resources address the diagnosis or management of ring chromosome 20 syndrome:  - Genetic Testing Registry: Ring chromosome 20 syndrome  - MedlinePlus Encyclopedia: Chromosome  - MedlinePlus Encyclopedia: Epilepsy   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) Epilepsy ?

[Assistant] The epilepsies are a spectrum of brain disorders ranging from severe, life-threatening and disabling, to ones that are much more benign. In epilepsy, the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. The epilepsies have many possible causes and there are several types of seizures. Anything that disturbs the normal pattern of neuron activityfrom illness to brain damage to abnormal brain developmentcan lead to seizures. Epilepsy may develop because of an abnormality in brain wiring, an imbalance of nerve signaling chemicals called neurotransmitters, changes in important features of brain cells called channels, or some combination of these and other factors. Having a single seizure as the result of a high fever (called febrile seizure) or head injury does not necessarily mean that a person has epilepsy. Only when a person has had two or more seizures is he or she considered to have epilepsy. A measurement of electrical activity in the brain and brain scans such as magnetic resonance imaging or computed tomography are common diagnostic tests for epilepsy.


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[User] Do you have information about Water Safety (Recreational)

[Assistant] Summary : Playing in the water - whether swimming, boating or diving - can be fun. It can also be dangerous, especially for children. Being safe can help prevent injuries and drowning. To stay safe in the water       - Avoid alcohol when swimming or boating    - Wear a life jacket whenever you're in a boat    - Don't swim alone, or in bad weather    - Learn CPR    - Learn to swim and teach your children to swim    - Supervise your children when they are in the water    - Prevent sunburns - use plenty of sunscreen


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[User] Is Hajdu-Cheney syndrome inherited ?

[Assistant] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered NOTCH2 gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Less commonly, an affected person inherits the mutation from one affected parent.


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[User] How many people are affected by methemoglobinemia, beta-globin type ?

[Assistant] The incidence of methemoglobinemia, beta-globin type is unknown.


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[User] What causes Charcot-Marie-Tooth disease type 2F ?

[Assistant] What causes Charcot-Marie-Tooth disease type 2F? Charcot-Marie-Tooth disease type 2F (CMT2F) is caused by mutations in the HSPB1 gene. This gene provides instructions for making a protein (heat shock protein beta-1) which helps protect cells under adverse conditions. Heat shock proteins appear to be involved in activities such as cell movement, stabilizing the cell's framework, folding and stabilizing new proteins, repairing damaged proteins, and muscle contraction. Heat shock protein beta-1 is particularly abundant in nerve and muscle cells. In nerve cells, it helps to organize a network of threads that maintain the diameter of axons (neurofilaments), which are needed to transmit nerve impulses efficiently. It is unclear exactly how HSPB1 mutations lead to the axon abnormalities characteristic of CMT2F. Researchers suggest that mutations lead to an altered protein which clusters together and interferes with nerve cell function. Another possibility is that the altered protein disrupts the assembly of neurofilaments, which in turn may impair the transmission of nerve impulses.


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[User] What are the treatments for Neurosarcoidosis ?

[Assistant] There is no agreed upon standard of treatment for neurosarcoidosis. Doctors generally recommend corticosteroid therapy as first-line therapy for individuals with the condition. Additional treatment with immunomodulatory drugs such as hydroxychloroquine, pentoxyfilline, thalidomide, and infliximab, and immunosuppressive drugs such as methotrexate, azathioprine, cyclosporin, and cyclophosphamide, have benefited some individuals. While the use of corticosteroids and other immunosuppressive drugs is effective, these medications also have undesirable side effects. Side effects and experience with certain drugs may play a role in medication choices.


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[User] What is (are) frontometaphyseal dysplasia ?

[Assistant] Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits).  Frontometaphyseal dysplasia is distinguished from the other otopalatodigital spectrum disorders by the presence of joint deformities called contractures that restrict the movement of certain joints. People with frontometaphyseal dysplasia may also have bowed limbs, an abnormal curvature of the spine (scoliosis), and abnormalities of the fingers and hands.  Characteristic facial features may include prominent brow ridges; wide-set and downward-slanting eyes; a very small lower jaw and chin (micrognathia); and small, missing or misaligned teeth. Some affected individuals have hearing loss.  In addition to skeletal abnormalities, individuals with frontometaphyseal dysplasia may have obstruction of the ducts between the kidneys and bladder (ureters), heart defects, or constrictions in the passages leading from the windpipe to the lungs (the bronchi) that can cause problems with breathing.  Males with frontometaphyseal dysplasia generally have more severe signs and symptoms of the disorder than do females, who may show only the characteristic facial features.


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[User] What is the outlook for Wilson Disease ?

[Assistant] Early onset of the disease may foretell a worse prognosis than later onset. If the disorder is detected early and treated appropriately, an individual with WD can usually enjoy normal health and a normal lifespan. If not treated, however, WD can cause brain damage, liver failure, and death. The disease requires lifelong treatment.


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[User] What are the genetic changes related to systemic lupus erythematosus ?

[Assistant] Normal variations (polymorphisms) in many genes can affect the risk of developing SLE, and in most cases multiple genetic factors are thought to be involved. In rare cases, SLE is caused by mutations in single genes. Most of the genes associated with SLE are involved in immune system function, and variations in these genes likely affect proper targeting and control of the immune response. Sex hormones and a variety of environmental factors including viral infections, diet, stress, chemical exposures, and sunlight are also thought to play a role in triggering this complex disorder. About 10 percent of SLE cases are thought to be triggered by drug exposure, and more than 80 drugs that may be involved have been identified.  In people with SLE, cells that have undergone self-destruction (apoptosis) because they are damaged or no longer needed are not cleared away properly. The relationship of this loss of function to the cause or features of SLE is unclear. Researchers suggest that these dead cells may release substances that cause the immune system to react inappropriately and attack the body's tissues, resulting in the signs and symptoms of SLE.


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[User] What are the symptoms of Oculoectodermal syndrome ?

[Assistant] What are the signs and symptoms of Oculoectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculoectodermal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% Aplasia/Hypoplasia of the skin 90% Epibulbar dermoid 90% Generalized hyperpigmentation 90% Abnormality of the cardiovascular system 50% Aganglionic megacolon 50% Anteverted nares 50% Blepharophimosis 50% Brachydactyly syndrome 50% Epicanthus 50% Hearing abnormality 50% Laryngeal atresia 50% Macrocephaly 50% Muscular hypotonia 50% Polyhydramnios 50% Proptosis 50% Short nose 50% Strabismus 50% Telecanthus 50% Abnormal facial shape 7.5% Cleft eyelid 7.5% Displacement of the external urethral meatus 7.5% Arachnoid cyst 5% Astigmatism 5% Depressed nasal bridge 5% Opacification of the corneal stroma 5% Parietal bossing 5% Wide nasal bridge 5% Anisometropia - Aplasia cutis congenita - Autosomal dominant inheritance - Bladder exstrophy - Coarctation of aorta - Epidermal nevus - Growth delay - Hyperactivity - Hyperpigmentation of the skin - Lower limb asymmetry - Lymphedema - Phenotypic variability - Seizures - Transient ischemic attack - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for Cough ?

[Assistant]
The best way to treat a cough is to treat its cause. However, sometimes the cause is unknown. Other treatments, such as medicines and a vaporizer, can help relieve the cough itself.

Treating the Cause of a Cough

Acute and Subacute Cough

An acute cough lasts less than 3 weeks. Common causes of an acute cough are a common cold or other upper respiratory infections. Examples of other upper respiratory infections include the flu, pneumonia, and whooping cough. An acute cough usually goes away after the illness that caused it is over.

A subacute cough lasts 3 to 8 weeks. This type of cough remains even after a cold or other respiratory infection is over.

Studies show that antibiotics and cold medicines can't cure a cold. However, your doctor may prescribe medicines to treat another cause of an acute or subacute cough. For example, antibiotics may be given for pneumonia.

Chronic Cough

A chronic cough lasts more than 8 weeks. Common causes of a chronic cough are upper airway cough syndrome (UACS), asthma, and gastroesophageal reflux disease (GERD).

"UACS" is a term used to describe conditions that inflame the upper airways and cause a cough. Examples include sinus infections and allergies. These conditions can cause mucus (a slimy substance) to run down your throat from the back of your nose. This is called postnasal drip.

If you have a sinus infection, your doctor may prescribe antibiotics. He or she also may suggest you use a medicine that you spray into your nose. If allergies are causing your cough, your doctor may advise you to avoid the substances that you're allergic to (allergens) if possible.

If you have asthma, try to avoid irritants and allergens that make your asthma worse. Take your asthma medicines as your doctor prescribes.

GERD occurs if acid from your stomach backs up into your throat. Your doctor may prescribe a medicine to reduce acid in your stomach. You also may be able to relieve GERD symptoms by waiting 3 to 4 hours after a meal before lying down, and by sleeping with your head raised.

Smoking also can cause a chronic cough. If you smoke, it's important to quit. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke.

Many hospitals have programs that help people quit smoking, or hospital staff can refer you to a program. The Health Topics Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's "Your Guide to a Healthy Heart" booklet have more information about how to quit smoking.

Other causes of a chronic cough include respiratory infections, chronic bronchitis, bronchiectasis, lung cancer, and heart failure. Treatments for these causes may include medicines, procedures, and other therapies. Treatment also may include avoiding irritants and allergens and quitting smoking.

If your chronic cough is due to a medicine you're taking, your doctor may prescribe a different medicine.

Treating the Cough Rather Than the Cause

Coughing is important because it helps clear your airways of irritants, such as smoke and mucus (a slimy substance). Coughing also helps prevent infections.

Cough medicines usually are used only when the cause of the cough is unknown and the cough causes a lot of discomfort.

Medicines can help control a cough and make it easier to cough up mucus. Your doctor may recommend medicines such as:

Prescription cough suppressants, also called antitussives. These medicines can help relieve a cough. However, they're usually used when nothing else works. No evidence shows that over-the-counter cough suppressants relieve a cough.

Expectorants. These medicines may loosen mucus, making it easier to cough up.

Bronchodilators. These medicines relax your airways.

Other treatments also may relieve an irritated throat and loosen mucus. Examples include using a cool-mist humidifier or steam vaporizer and drinking enough fluids. Examples of fluids are water, soup, and juice. Ask your doctor how much fluid you need.

Cough in Children

No evidence shows that cough and cold medicines help children recover more quickly from colds. These medicines can even harm children. Talk with your child's doctor about your child's cough and how to treat it.


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[User] Who is at risk for Hypersensitivity Pneumonitis? ?

[Assistant]
People who repeatedly breathe in foreign substances are at risk for hypersensitivity pneumonitis (HP). These substances, which also are known as antigens, include molds, dusts, and chemicals. However, most people who breathe in these substances don't develop HP.

People at increased risk include:

Farm and dairy cattle workers

People who use hot tubs often

People who are exposed to molds or dusts from humidifiers, heating systems, or wet carpeting

Bird fanciers (people who keep pet birds) and poultry handlers

Florists and landscapers, especially those who use liquid chemicals on lawns and gardens

People who work in grain and flour processing and loading

Lumber milling, construction, wood stripping, and paper and wallboard workers

People who make plastics or electronics, and those who paint or work with other chemicals


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[User] Is Emery-Dreifuss muscular dystrophy inherited ?

[Assistant] Emery-Dreifuss muscular dystrophy can have several different patterns of inheritance. When this condition is caused by mutations in the EMD gene, it 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. 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 females (who have two X chromosomes), a mutation typically must be present in both copies of the EMD gene to cause X-linked Emery-Dreifuss muscular dystrophy. Females who carry one altered copy of the EMD gene usually do not experience the muscle weakness and wasting that are characteristic of this condition. In some cases, however, they may experience heart problems associated with this disorder.  Other cases of Emery-Dreifuss muscular dystrophy result from mutations in the LMNA gene and are considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. About 75 percent of autosomal dominant Emery-Dreifuss muscular dystrophy cases are caused by new mutations in the LMNA gene and occur in people with no history of the disorder in their family. In the remaining cases, people with this form of the condition inherit the altered LMNA gene from an affected parent.  Rarely, LMNA gene mutations can cause a form of Emery-Dreifuss muscular dystrophy that is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.


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[User] What is (are) Wolffian tumor ?

[Assistant] Wolffian tumors are rare tumors located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. Wolffian ducts are structures in a developing embryo that get incorporated into the reproductive system in males and degenerate in females. Wolffian tumors are thought to have a low potential to become cancerous and tend to range from 0.8 to 25 centimeters in size. Surgery is the recommended treatment. In a small number of cases, recurrences or malignancy have been been reported. Close follow-up is advised.


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[User] What is (are) branchio-oculo-facial syndrome ?

[Assistant] Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features.  "Branchio-" refers to the branchial arches, which are structures in the developing embryo that give rise to tissues in the face and neck. In people with branchio-oculo-facial syndrome, the first and second branchial arches do not develop properly, leading to abnormal patches of skin, typically on the neck or near the ears. These patches can be unusually thin, hairy, or red and densely packed with blood vessels (hemangiomatous). In a small number of individuals, tissue from a gland called the thymus is abnormally located on the skin of the neck (dermal thymus). Problems with branchial arch development underlie many of the other features of branchio-oculo-facial syndrome.  "Oculo-" refers to the eyes. Many people with branchio-oculo-facial syndrome have malformations of the eyes that can lead to vision impairment. These abnormalities include unusually small eyeballs (microphthalmia), no eyeballs (anophthalmia), a gap or split in structures that make up the eyes (coloboma), or blockage of the tear ducts (nasolacrimal duct stenosis).  Problems with development of the face lead to distinctive facial features in people with branchio-oculo-facial syndrome. Many affected individuals have a split in the upper lip (cleft lip) or a pointed upper lip that resembles a poorly repaired cleft lip (often called a pseudocleft lip) with or without an opening in the roof of the mouth (cleft palate). Other facial characteristics include widely spaced eyes (hypertelorism), an increased distance between the inner corners of the eyes (telecanthus), outside corners of the eyes that point upward (upslanting palpebral fissures), a broad nose with a flattened tip, and weakness of the muscles in the lower face. The ears are also commonly affected, resulting in malformed or prominent ears. Abnormalities of the inner ear or of the tiny bones in the ears (ossicles) can cause hearing loss in people with this condition.  Branchio-oculo-facial syndrome can affect other structures and tissues as well. Some affected individuals have kidney abnormalities, such as malformed kidneys or multiple kidney cysts. Nail and teeth abnormalities also occur, and some people with this condition have prematurely graying hair.


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[User] What is (are) Triple A syndrome ?

[Assistant] Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima (a reduced or absent ability to secrete tears). Most people with triple A syndrome have all three of these features, although some have only two. Several authors published descriptions of a more global autonomic disturbance associated with the original three characteristics, leading one author to suggest the name 4A syndrome (adrenal insufficiency, achalasia, alacrima, autonomic abnormalities). Specific autonomic disturbances described in this syndrome include abnormal pupillary reflexes, poor heart rate variability, and orthostatic hypotension. Affected individuals may also have developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. Many of the neurological symptoms of triple A syndrome worsen over time. Triple A syndrome is caused by mutations in the AAAS gene and is inherited in an autosomal recessive pattern. Alacrimia is treated with artificial tears while achalasia may need surgery with either pneumatic dilatation or Heller's myotomy. Adrenal insufficiency is treated with glucocorticoid and if necessary mineralocorticoid replacement.


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[User] What is (are) Thalassemia ?

[Assistant] Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. There are two main types of thalassemia, alpha thalassemia and beta thalassemia. Signs and symptoms vary but may include mild to severe anemia, paleness, fatigue, yellow discoloration of skin (jaundice), and bone problems. Beta thalassemia is caused by changes (mutations) in the HBB gene while alpha thalassemia is caused by mutations in the HBA1 and/or HBA2 genes. Both are inherited in an autosomal recessive manner. Treatment depends on the type and severity of the condition but may include blood transfusions and/or folic acid supplements.


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[User] What are the treatments for Lung Cancer ?

[Assistant] Researchers are working to develop drugs called "molecularly targeted agents" which kill cancer cells by targeting key molecules involved in cancer cell growth.


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

[User] What are the symptoms of Spastic paraplegia 51 ?

[Assistant] What are the signs and symptoms of Spastic paraplegia 51? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 51. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Babinski sign - Bulbous nose - Cerebellar atrophy - Cerebral cortical atrophy - Coarse facial features - Congenital onset - Decreased muscle mass - Drooling - Facial hypotonia - Flexion contracture - Hyperreflexia - Intellectual disability, severe - Long nose - Microcephaly - Narrow face - Narrow forehead - Neonatal hypotonia - Nystagmus - Pointed chin - Prominent antihelix - Seizures - Short philtrum - Short stature - Spastic paraplegia - Spastic tetraplegia - Talipes equinovarus - Ventriculomegaly - Wide mouth - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) X-linked creatine deficiency ?

[Assistant] X-linked creatine deficiency is a rare condition that primarily affects the brain. Signs and symptoms generally develop before age 2 and may include mild to severe intellectual disability; delayed speech development, behavioral problems (i.e. autistic features, hyperactivity), and seizures. Less commonly, affected people may have distinctive facial features, heart abnormalities, and gastrointestinal disorders. X-linked creatine deficiency is caused by changes (mutations) in the SLC6A8 gene and is inherited in an X-linked manner. Treatment with high doses of creatine monohydrate, L-arginine, and L-glycine has been used to treat some of the symptoms associated with X-linked creatine deficiency with variable success.


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[User] What are the treatments for N-acetylglutamate synthase deficiency ?

[Assistant] These resources address the diagnosis or management of N-acetylglutamate synthase deficiency:  - Gene Review: Gene Review: Urea Cycle Disorders Overview  - Genetic Testing Registry: Hyperammonemia, type III  - MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] How many people are affected by Pallister-Hall syndrome ?

[Assistant] This condition is very rare; its prevalence is unknown.


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[User] What are the treatments for Situs inversus ?

[Assistant] How might situs inversus be treated? In isolated situs inversus, no treatment may be necessary. When situs inversus is associated with another condition, treatment may depend on the associated condition and the signs and symptoms present in the affected person. Knowing that a person has situs inversus is important for diagnosing medical problems and preventing surgical mishaps that can result from the failure to recognize reversed anatomy. For example, in a person with situs inversus, appendicitis causes pain in the left lower abdomen instead of the right lower abdomen. Wearing medical identification can help ensure proper treatment in an emergency medical situation.


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[User] What causes Hairy tongue ?

[Assistant] What causes hairy tongue? The exact cause is unknown; however, smoking, alcohol, dehydration, use of antibiotics, low saliva production, trigeminal neuralgia, poor oral hygiene and cranial radiation therapy have shown to bring about hairy tongue.


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[User] How to diagnose Dopa-responsive dystonia ?

[Assistant] How is dopa-responsive dystonia diagnosed? Dopa-responsive dystonia (DRD) is diagnosed based on the signs and symptoms present, results of laboratory tests (sometimes including genetic testing), and response to therapy with levodopa. If DRD is suspected, a therapeutic trial with low doses of levodopa remains the most practical approach to the diagnosis. It is generally agreed that people with childhood-onset dystonia of unknown cause should be treated initially with levodopa. The characteristic symptoms and response to treatment are sufficient to establish the diagnosis for people with the most common form, autosomal dominant DRD. There is only one gene in which mutations are known to cause this form of DRD, but not all people with the disorder are found to have a mutation in the responsible gene. While finding a mutation may provide information about prognosis, it does not alter the treatment. Other types of laboratory tests, such as measuring specific substances or enzymes in the blood or cerebrospinal fluid (CSF), may be useful to support the diagnosis. For tyrosine hydroxylase deficiency, an autosomal recessive genetic cause of DRD, molecular genetic testing has confirmed the presence of mutations in all affected people to date. Specific laboratory tests performed on CSF help support the diagnosis but are not diagnostic on their own. For sepiapterin reductase deficiency, a very rare autosomal recessive form of DRD, there are distinctive findings in CSF and reduced or absent activity of sepiapterin reductase in fibroblasts. Molecular genetic testing can identify mutations in the responsible gene and confirm the diagnosis of this form of DRD. The major conditions that may have a similar presentation to DRD and are part of the differential diagnosis include early-onset parkinsonism, early-onset primary dystonia, and cerebral palsy or spastic paraplegia. People with specific questions about being evaluated for any form of dystonia should speak with a neurologist or other health care provider.


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[User] What are the genetic changes related to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?

[Assistant] Mutations in the FOXP3 gene cause some cases of IPEX syndrome. The protein produced from this gene is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. This protein is essential for the production and normal function of certain immune cells called regulatory T cells. Regulatory T cells play an important role in controlling the immune system and preventing autoimmune disorders. Mutations in the FOXP3 gene lead to reduced numbers or a complete absence of regulatory T cells. Without the proper number of regulatory T cells, the body cannot control immune responses. Normal body tissues and organs are attacked, causing the multiple autoimmune disorders present in people with IPEX syndrome.  About half of individuals diagnosed with IPEX syndrome do not have identified mutations in the FOXP3 gene. In these cases, the cause of the disorder is unknown.


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[User] What is (are) spinal and bulbar muscular atrophy ?

[Assistant] Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem).  Spinal and bulbar muscular atrophy mainly affects males and is characterized by muscle weakness and wasting (atrophy) that usually begins in adulthood and worsens slowly over time. Muscle wasting in the arms and legs results in cramping; leg muscle weakness can also lead to difficulty walking and a tendency to fall. Certain muscles in the face and throat (bulbar muscles) are also affected, which causes progressive problems with swallowing and speech. Additionally, muscle twitches (fasciculations) are common. Some males with the disorder experience unusual breast development (gynecomastia) and may be unable to father a child (infertile).


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[User] Is 2q37 deletion syndrome inherited ?

[Assistant] Most cases of 2q37 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.  Rarely, affected individuals inherit a copy of chromosome 2 with a deleted segment from an unaffected parent. In these cases, one of the parents carries a chromosomal rearrangement between chromosome 2 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Some individuals with 2q37 deletion syndrome inherit an unbalanced translocation that deletes genetic material near the end of the long arm of chromosome 2, which results in birth defects and other health problems characteristic of this disorder.


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

[Assistant] Globozoospermia is most commonly caused by mutations in the DPY19L2 gene, which are found in about 70 percent of men with this condition. Mutations in other genes likely also cause globozoospermia.  The DPY19L2 gene provides instructions for making a protein that is found in developing sperm cells. The DPY19L2 protein is involved in the development of the acrosome and elongation of the sperm head, which are integral steps in sperm cell maturation. Mutations in the DPY19L2 gene result in a loss of functional DPY19L2 protein. As a result, sperm cells have no acrosome and do not elongate properly. Without an acrosome, the abnormal sperm are unable to get through the outer membrane of an egg cell to fertilize it, leading to infertility in affected men. Researchers have described other characteristics of the abnormal sperm cells that make fertilization of an egg cell difficult, although it is not clear how changes in the DPY19L2 gene are involved in development of these characteristics.


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[User] What is (are) Osteomesopyknosis ?

[Assistant] Osteomesopyknosis is a bone disorder characterized by abnormal hardening of bone (osteosclerosis). It is generally limited to the axial spine, pelvis, and proximal part of the long bones, which is what distinguishes this condition from other sclerosing bone disorders. It is usually diagnosed incidentally in young adults complaining of back pain. Osteomesopyknosis is inherited in an autosomal dominant manner but the genetic cause has not yet been identified. It is generally benign and life expectancy is normal.


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[User] What is (are) Hyperthyroidism ?

[Assistant] Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. If your thyroid is too active, it makes more thyroid hormones than your body needs. This is called hyperthyroidism.    Hyperthyroidism is more common in women, people with other thyroid problems, and those over 60 years old. Grave's disease, an autoimmune disorder, is the most common cause. Other causes include thyroid nodules, thyroiditis, consuming too much iodine, and taking too much synthetic thyroid hormone.    The symptoms can vary from person to person. They may include       - Being nervous or irritable    - Mood swings    - Fatigue or muscle weakness    - Heat intolerance    - Trouble sleeping    - Hand tremors    - Rapid and irregular heartbeat    - Frequent bowel movements or diarrhea    - Weight loss    - Goiter, which is an enlarged thyroid that may cause the neck to look swollen       To diagnose hyperthyroidism, your doctor will look at your symptoms, blood tests, and sometimes a thyroid scan. Treatment is with medicines, radioiodine therapy, or thyroid surgery. No single treatment works for everyone.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases


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[User] What are the symptoms of Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome ?

[Assistant] What are the signs and symptoms of Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hyperplasia of midface 16/16 Hypertelorism 16/16 Large forehead 16/16 Long face 16/16 Muscular hypotonia 16/16 Polyhydramnios 16/16 Thick lower lip vermilion 16/16 Thick upper lip vermilion 16/16 Wide mouth 16/16 Wide nasal bridge 16/16 Macrocephaly 15/16 Premature birth 15/16 Atria septal defect 4/16 Diabetes insipidus 2/16 Nephrocalcinosis 2/16 Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] How many people are affected by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ?

[Assistant] The exact incidence of MELAS is unknown. It is one of the more common conditions in a group known as mitochondrial diseases. Together, mitochondrial diseases occur in about 1 in 4,000 people.


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[User] What are the treatments for androgen insensitivity syndrome ?

[Assistant] These resources address the diagnosis or management of androgen insensitivity syndrome:  - Gene Review: Gene Review: Androgen Insensitivity Syndrome  - Genetic Testing Registry: Androgen resistance syndrome  - MedlinePlus Encyclopedia: Androgen Insensitivity Syndrome  - MedlinePlus Encyclopedia: Intersex  - MedlinePlus Encyclopedia: Reifenstein 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] Is ZAP70-related severe combined immunodeficiency 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] How to diagnose Alopecia universalis ?

[Assistant] How is alopecia universalis diagnosed? A diagnosis of alopecia universalis is usually based on the signs and symptoms present in each person. In rare cases, a scalp biopsy may be needed to confirm the diagnosis.


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[User] What is (are) focal dermal hypoplasia ?

[Assistant] Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability.  People with focal dermal hypoplasia have skin abnormalities present from birth, such as streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent (cutis aplasia), small clusters of veins on the surface of the skin (telangiectases), and streaks of slightly darker or lighter skin. These skin changes may cause pain, itching, irritation, or lead to skin infections. Wart-like growths called papillomas are usually not present at birth but develop with age. Papillomas typically form around the nostrils, lips, anus, and female genitalia. They may also be present in the throat, specifically in the esophagus or larynx, and can cause problems with swallowing, breathing, or sleeping. Papillomas can usually be surgically removed if necessary. Affected individuals may have small, ridged fingernails and toenails. Hair on the scalp can be sparse and brittle or absent.  Many individuals with focal dermal hypoplasia have hand and foot abnormalities, including missing fingers or toes (oligodactyly), webbed or fused fingers or toes (syndactyly), and a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). X-rays can show streaks of altered bone density, called osteopathia striata, that do not cause any symptoms in people with focal dermal hypoplasia.  Eye abnormalities are common in individuals with focal dermal hypoplasia, including small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. Affected individuals may also have incomplete development of the light-sensitive tissue at the back of the eye (retina) or the nerve that relays visual information from the eye to the brain (optic nerve). This abnormal development of the retina and optic nerve can result in a gap or split in these structures, which is called a coloboma. Some of these eye abnormalities do not impair vision, while others can lead to low vision or blindness.  People with focal dermal hypoplasia may have distinctive facial features. Affected individuals often have a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). These facial characteristics are typically very subtle. An opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate) may also be present.  About half of individuals with focal dermal hypoplasia have abnormalities of their teeth, especially the hard, white material that forms the protective outer layer of each tooth (enamel). Less commonly, abnormalities of the kidneys and gastrointestinal system are present. The kidneys may be fused together, which predisposes affected individuals to kidney infections but does not typically cause significant health problems. The main gastrointestinal abnormality that occurs in people with focal dermal hypoplasia is an omphalocele, which is an opening in the wall of the abdomen that allows the abdominal organs to protrude through the navel. The signs and symptoms of focal dermal hypoplasia vary widely, although almost all affected individuals have skin abnormalities.


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[User] What are the treatments for Urine Blockage in Newborns ?

[Assistant]
Treatment for urine blockage depends on the cause and severity of the blockage. Hydronephrosis discovered before the baby is born rarely requires immediate action, especially if it is only on one side. The condition often goes away without any treatment before or after birth. The health care provider should keep track of the condition with frequent ultrasounds.

Surgery

If the urine blockage threatens the life of the unborn baby, a fetal surgeon may recommend surgery to insert a shunt or correct the problem causing the blockage. A shunt is a small tube that can be inserted into the babys bladder to release urine into the amniotic sac. The procedure is similar to amniocentesis, in that a needle is inserted through the mothers abdomen. Ultrasound guides placement of the shunt, which is attached to the end of the needle. Alternatively, an endoscopea small, flexible tube with a lightcan be used to place a shunt or to repair the problem causing the blockage. Fetal surgery carries many risks, so it is performed only in special circumstances, such as when the amniotic fluid is absent and the babys lungs are not developing or when the kidneys are severely damaged.

If the urinary defect does not correct itself after the child is born, and the child continues to have urine blockage, surgery may be needed to remove the obstruction and restore urine flow. The decision to operate depends on the degree of blockage. After surgery, a small tube, called a stent, may be placed in the ureter or urethra to keep it open temporarily while healing occurs.

Antibiotics

Antibiotics are bacteria-fighting medications. A child with possible urine blockage or VUR may be given antibiotics to prevent UTIs from developing until the urinary defect corrects itself or is corrected with surgery.

Intermittent Catheterization

Intermittent catheterization may be used for a child with urinary retention due to a nerve disease. The parent or guardian, and later the child, is taught to drain the bladder by inserting a thin tube, called a catheter, through the urethra to the bladder. Emptying the bladder in this way helps to decrease kidney damage, urine leakage, and UTIs.


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[User] What is (are) Medicare and Continuing Care ?

[Assistant] Some people think that Medicare and Medicaid are the same. Actually, they are two different programs. Medicaid is a state-run program that provides hospital and medical coverage for people with low income and little or no resources. Each state has its own rules about who is eligible and what is covered under Medicaid. Some people qualify for both Medicare and Medicaid. If you have questions about Medicaid, you can call your State Medical Assistance (Medicaid) office for more information. Visit  http://www.medicare.gov on the web. (Under "Search Tools," select "Find Helpful Phone Numbers and Websites.") Or, call 1-800-Medicare (1-800-633-4227) to get the telephone number. TTY users should call 1-877-486-2048.


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[User] What are the genetic changes related to congenital central hypoventilation syndrome ?

[Assistant] Mutations in the PHOX2B gene cause CCHS. The PHOX2B gene provides instructions for making a protein that acts early in development to help promote the formation of nerve cells (neurons) and regulate the process by which the neurons mature to carry out specific functions (differentiation). The protein is active in the neural crest, which is a group of cells in the early embryo that give rise to many tissues and organs. Neural crest cells migrate to form parts of the autonomic nervous system, many tissues in the face and skull, and other tissue and cell types.  Mutations are believed to interfere with the PHOX2B protein's role in promoting neuron formation and differentiation, especially in the autonomic nervous system, resulting in the problems regulating breathing and other body functions that occur in CCHS.


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[User] What is (are) Metastatic Squamous Neck Cancer with Occult Primary ?

[Assistant]
Key Points
                    - Metastatic squamous neck cancer with occult primary is a disease in which squamous cell cancer spreads to lymph nodes in the neck and it is not known where the cancer first formed in the body.    - Signs and symptoms of metastatic squamous neck cancer with occult primary include a lump or pain in the neck or throat.     - Tests that examine the tissues of the neck, respiratory tract, and upper part of the digestive tract are used to detect (find) and diagnose metastatic squamous neck cancer and the primary tumor.    - Certain factors affect prognosis (chance of recovery) and treatment options.

                    Metastatic squamous neck cancer with occult primary is a disease in which squamous cell cancer spreads to lymph nodes in the neck and it is not known where the cancer first formed in the body.
                    Squamous cells are thin, flat cells found in tissues that form the surface of the skin and the lining of body cavities such as the mouth, hollow organs such as the uterus and blood vessels, and the lining of the respiratory (breathing) and digestive tracts. Some organs with squamous cells are the esophagus, lungs, kidneys, and uterus. Cancer can begin in squamous cells anywhere in the body and metastasize (spread) through the blood or lymph system to other parts of the body.    When squamous cell cancer spreads to lymph nodes in the neck or around the collarbone, it is called metastatic squamous neck cancer. The doctor will try to find the primary tumor (the cancer that first formed in the body), because treatment for metastatic cancer is the same as treatment for the primary tumor. For example, when lung cancer spreads to the neck, the cancer cells in the neck are lung cancer cells and they are treated the same as the cancer in the lung. Sometimes doctors cannot find where in the body the cancer first began to grow. When tests cannot find a primary tumor, it is called an occult (hidden) primary tumor. In many cases, the primary tumor is never found.


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[User] What causes High Blood Pressure ?

[Assistant]
Changes, either fromgenesor the environment, in the bodys normal functions may cause high blood pressure, including changes to kidney fluid and salt balances, therenin-angiotensin-aldosterone system,sympathetic nervous systemactivity, and blood vessel structure and function.

Biology and High Blood Pressure

Researchers continue to study how various changes in normal body functions cause high blood pressure. The key functions affected in high blood pressure include:

Kidney fluid and salt balances

Renin-angiotensin-aldosterone system

Sympathetic nervous system activity

Blood vessel structure and function

Kidney Fluid and Salt Balances

The kidneys normally regulate the bodys salt balance by retaining sodium and water and excreting potassium. Imbalances in this kidney function can expand blood volumes, which can cause high blood pressure.

Renin-Angiotensin-Aldosterone System

The renin-angiotensin-aldosterone system makes angiotensin and aldosterone hormones. Angiotensin narrows or constricts blood vessels, which can lead to an increase in blood pressure. Aldosterone controls how the kidneys balance fluid and salt levels. Increased aldosterone levels or activity may change this kidney function, leading to increased blood volumes and high blood pressure.

Sympathetic Nervous System Activity

The sympathetic nervous system has important functions in blood pressure regulation, including heart rate, blood pressure, and breathing rate. Researchers are investigating whether imbalances in this system cause high blood pressure.

Blood Vessel Structure and Function

Changes in the structure and function of small and large arteries may contribute to high blood pressure. The angiotensin pathway and the immune system may stiffen small and large arteries, which can affect blood pressure.

Genetic Causes of High Blood Pressure

Much of the understanding of the body systems involved in high blood pressure has come from genetic studies. High blood pressure often runs in families. Years of research have identified many genes and other mutations associated with high blood pressure, some in the renal salt regulatory and renin-angiotensin-aldosterone pathways. However, these known genetic factors only account for 2 to 3percent of all cases. Emerging research suggests that certain DNA changes during fetal development also may cause the development of high blood pressure later in life.

Environmental Causes of High Blood Pressure

Environmental causes of high blood pressure include unhealthy lifestyle habits, being overweight or obese, and medicines.

Unhealthy Lifestyle Habits

Unhealthy lifestyle habits can cause high blood pressure, including:

High dietary sodium intake and sodium sensitivity

Drinking excess amounts of alcohol

Lack of physical activity

Overweight and Obesity

Research studies show that being overweight or obese can increase the resistance in the blood vessels, causing the heart to work harder and leading to high blood pressure.

Medicines

Prescription medicines such as asthma or hormone therapies, including birth control pills and estrogen, and over-the-counter medicines such as cold relief medicines may cause this form of high blood pressure. This happens because medicines can change the way your body controls fluid and salt balances, cause your blood vessels to constrict, or impact the renin-angiotensin-aldosterone system leading to high blood pressure.

Other Medical Causes of High Blood Pressure

Other medical causes of high blood pressure include other medical conditions such as chronic kidney disease, sleep apnea, thyroid problems, or certain tumors. This happens because these other conditions change the way your body controls fluids, sodium, and hormones in your blood, which leads to secondary high blood pressure.


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[User] How to prevent Hypoglycemia ?

[Assistant]
Diabetes treatment plans are designed to match the dose and timing of medication to a person's usual schedule of meals and activities. Mismatches could result in hypoglycemia. For example, taking a dose of insulinor other medication that increases insulin levelsbut then skipping a meal could result in hypoglycemia.

To help prevent hypoglycemia, people with diabetes should always consider the following:

- Their diabetes medications. A health care provider can explain which diabetes medications can cause hypoglycemia and explain how and when to take medications. For good diabetes management, people with diabetes should take diabetes medications in the recommended doses at the recommended times. In some cases, health care providers may suggest that patients learn how to adjust medications to match changes in their schedule or routine.  - Their meal plan. A registered dietitian can help design a meal plan that fits one's personal preferences and lifestyle. Following one's meal plan is important for managing diabetes. People with diabetes should eat regular meals, have enough food at each meal, and try not to skip meals or snacks. Snacks are particularly important for some people before going to sleep or exercising. Some snacks may be more effective than others in preventing hypoglycemia overnight. The dietitian can make recommendations for snacks.  - Their daily activity. To help prevent hypoglycemia caused by physical activity, health care providers may advise      - checking blood glucose before sports, exercise, or other physical activity and having a snack if the level is below 100 milligrams per deciliter (mg/dL)    - adjusting medication before physical activity    - checking blood glucose at regular intervals during extended periods of physical activity and having snacks as needed    - checking blood glucose periodically after physical activity    - Their use of alcoholic beverages. Drinking alcoholic beverages, especially on an empty stomach, can cause hypoglycemia, even a day or two later. Heavy drinking can be particularly dangerous for people taking insulin or medications that increase insulin production. Alcoholic beverages should always be consumed with a snack or meal at the same time. A health care provider can suggest how to safely include alcohol in a meal plan.  - Their diabetes management plan. Intensive diabetes managementkeeping blood glucose as close to the normal range as possible to prevent long-term complicationscan increase the risk of hypoglycemia. Those whose goal is tight control should talk with a health care provider about ways to prevent hypoglycemia and how best to treat it if it occurs.

What to Ask the Doctor about Diabetes Medications

People who take diabetes medications should ask their doctor or health care provider

- whether their diabetes medications could cause hypoglycemia  - when they should take their diabetes medications  - how much medication they should take  - whether they should keep taking their diabetes medications when they are sick  - whether they should adjust their medications before physical activity  - whether they should adjust their medications if they skip a meal


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[User] What is (are) Tangier disease ?

[Assistant] Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. HDL is often referred to as "good cholesterol" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease.  Additional signs and symptoms of Tangier disease include a slightly elevated amount of fat in the blood (mild hypertriglyceridemia); disturbances in nerve function (neuropathy); and enlarged, orange-colored tonsils. Affected individuals often develop atherosclerosis, which is an accumulation of fatty deposits and scar-like tissue in the lining of the arteries. Other features of this condition may include an enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly), clouding of the clear covering of the eye (corneal clouding), and type 2 diabetes.


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[User] What are the genetic changes related to Langer-Giedion syndrome ?

[Assistant] Langer-Giedion syndrome is caused by the deletion or mutation of at least two genes on chromosome 8. Researchers have determined that the loss of a functional EXT1 gene is responsible for the multiple osteochondromas seen in people with Langer-Giedion syndrome. Loss of a functional TRPS1 gene may cause the other bone and facial abnormalities. The EXT1 gene and the TRPS1 gene are always missing or mutated in affected individuals, but other neighboring genes may also be involved. The loss of additional genes from this region of chromosome 8 likely contributes to the varied features of this condition.  Langer-Giedion syndrome is often described as a contiguous gene deletion syndrome because it results from the loss of several neighboring genes.


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[User] Is Charcot-Marie-Tooth disease type 2F inherited ?

[Assistant] How is Charcot-Marie-Tooth disease type 2F inherited? Charcot-Marie-Tooth disease type 2F is inherited in an autosomal dominant manner. This means that only one mutated copy of the gene in each cell is sufficient to cause the condition. Most affected individuals inherit the mutated gene from an affected parent, but in some cases the mutation occurs for the first time in the affected individual (de novo mutation). When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene and have the condition.


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[User] What are the symptoms of Diffuse cutaneous mastocytosis ?

[Assistant] What are the signs and symptoms of Diffuse cutaneous mastocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse cutaneous mastocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Mastocytosis 90% Abnormality of skin pigmentation 50% Hypotension 50% Impaired temperature sensation 50% Pruritus 50% Subcutaneous hemorrhage 50% Thickened skin 50% Urticaria 50% Gastrointestinal hemorrhage 7.5% Hepatomegaly 7.5% Immunologic hypersensitivity 7.5% Leukemia 7.5% Malabsorption 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Sprains and Strains ?

[Assistant] A sprain is a stretched or torn ligament. Ligaments are tissues that connect bones at a joint. Falling, twisting, or getting hit can all cause a sprain. Ankle and wrist sprains are common. Symptoms include pain, swelling, bruising, and being unable to move your joint. You might feel a pop or tear when the injury happens.     A strain is a stretched or torn muscle or tendon. Tendons are tissues that connect muscle to bone. Twisting or pulling these tissues can cause a strain. Strains can happen suddenly or develop over time. Back and hamstring muscle strains are common. Many people get strains playing sports. Symptoms include pain, muscle spasms, swelling, and trouble moving the muscle.     At first, treatment of both sprains and strains usually involves resting the injured area, icing it, wearing a bandage or device that compresses the area, and medicines. Later treatment might include exercise and physical therapy.     NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases


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[User] What is (are) Schizencephaly ?

[Assistant] Schizencephaly is an extremely rare developmental birth defect characterized by abnormal slits, or clefts, in the cerebral hemispheres of the brain. Babies with clefts in both hemispheres (called bilateral clefts) commonly have developmental delays, delays in speech and language skills, and problems with brain-spinal cord communication. Individuals with clefts in only one hemisphere (called unilateral clefts) are often paralyzed on one side of the body, but may have average to near-average intelligence. Individuals with schizencephaly may also have an abnormally small head, cognitive delay and impairment, partial or complete paralysis, or poor muscle tone. Most will experience seizures. Some individuals may have an excessive accumulation of fluid in the brain called hydrocephalus.


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[User] Is Chromosome 3p- syndrome inherited ?

[Assistant] Is chromosome 3p- syndrome inherited? In most cases, chromosome 3p- syndrome occurs for the first time in the affected person (de novo mutation). However, the deletion is rarely inherited from a parent. In these cases, the deletion is passed down in an autosomal dominant manner. This means that a person with chromosome 3p- syndrome has a 50% chance with each pregnancy of passing the condition on to his or her child. In theory, it is possible for a parent to not have the deletion in their chromosomes on a blood test, but have the deletion in some of their egg or sperm cells only. This phenomenon is called germline mosaicism. In these rare cases, it would be possible to have another child with the deletion. To our knowledge, this has not been reported with chromosome 3p- syndrome. People interested in learning more about genetic risks to themselves or family members should speak with a genetics professional.


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[User] What is (are) Hepatitis B: What Asian and Pacific Islander Americans Need to Know ?

[Assistant]
Hepatitis B may start as a brief, flu-like illness. Most healthy adults and children older than 5 completely recover after the bodys immune system gets rid of the virus.

Hepatitis B becomes chronic when the bodys immune system cant get rid of the virus. Over time, having the virus can lead to inflammation of the liver; scar tissue in the liver, called cirrhosis; or liver cancer. Inflammation is the painful red swelling that results when tissues of the body become infected. Young children and people with weakened immune systems are especially at risk. People who were infected as infants have a 90 percent chance of developing chronic hepatitis B.1


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[User] What are the treatments for Familial Periodic Paralyses ?

[Assistant] Treatment of the periodic paralyses focuses on preventing further attacks and relieving acute symptoms. Avoiding carbohydrate-rich meals and strenuous exercise, and taking acetazolamide daily may prevent hypokalemic attacks. Attacks can be managed by drinking a potassium chloride oral solution. Eating carbohydrate-rich, low-potassium foods, and avoiding strenuous exercise and fasting, can help prevent hyperkalemic attacks. Dichorphenamide may prevent attacks.


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[User] Is nemaline myopathy inherited ?

[Assistant] Nemaline myopathy is usually 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.  Less often, this condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most 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] What is (are) Ewing sarcoma ?

[Assistant] Ewing sarcoma is a malignant (cancerous) bone tumor that affects children. It can occur any time during childhood and young adulthood, but usually develops during puberty, when bones are growing rapidly. The tumor may arise anywhere in the body, usually in the long bones of the arms and legs, the pelvis, or the chest. It may also develop in the skull or the flat bones of the trunk. There are few symptoms. The most common is pain and occasionally swelling at the site of the tumor. Fever may also be present. The tumor often spreads (metastasis) to the lungs and other bones. The cause of Ewing sarcoma is unknown. Most cases are thought to occur randomly and many involved a reciprocal translocation between chromosomes 11 and 22. Treatment depends upon a number of factors, but may include chemotherapy, radiation and/or surgical interventions.


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[User] What are the treatments for Kidney Disease ?

[Assistant] Treatments for early kidney disease include both diet and lifestyle changes and medications. Diet and lifestyle changes, such as eating heart healthy foods and exercising regularly to maintain a healthy weight, can help prevent the diseases that cause kidney damage. If you already have diabetes and/or high blood pressure, keeping these conditions under control can keep them from causing further damage to your kidneys. (Watch the video to learn more about dialysis decisions. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)


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[User] How to diagnose Pericarditis ?

[Assistant]
Your doctor will diagnose pericarditis based on your medical history, a physical exam, and the results from tests.

Specialists Involved

Primary care doctorssuch as a family doctor, internist, or pediatricianoften diagnose and treat pericarditis. Other types of doctors also may be involved, such as a cardiologist, pediatric cardiologist, and an infectious disease specialist.

A cardiologist treats adults who have heart problems. A pediatric cardiologist treats children who have heart problems. An infectious disease specialist treats people who have infections.

Medical History

Your doctor may ask whether you:

Have had a recent respiratory infection or flu-like illness

Have had a recent heart attack or injury to your chest

Have any other medical conditions

Your doctor also may ask about your symptoms. If you have chest pain, he or she will ask you to describe how it feels, where it's located, and whether it's worse when you lie down, breathe, or cough.

Physical Exam

When the pericardium (the sac around your heart) is inflamed, the amount of fluid between its two layers of tissue increases. As part of the exam, your doctor will look for signs of excess fluid in your chest.

A common sign is the pericardial rub. This is the sound of the pericardium rubbing against the outer layer of your heart. Your doctor will place a stethoscope on your chest to listen for this sound.

Your doctor may hear other chest sounds that are signs of fluid in the pericardium (pericardial effusion) or the lungs (pleural effusion). These are more severe problems related to pericarditis.

Diagnostic Tests

Your doctor may recommend one or more tests to diagnose your condition and show how severe it is. The most common tests are:

EKG (electrocardiogram). This simple test detects and records your heart's electrical activity. Certain EKG results suggest pericarditis.

Chest x ray. A chest x ray creates pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. The pictures can show whether you have an enlarged heart. This is a sign of excess fluid in your pericardium.

Echocardiography. This painless test uses sound waves to create pictures of your heart. The pictures show the size and shape of your heart and how well your heart is working. This test can show whether fluid has built up in the pericardium.

Cardiac CT (computed tomography (to-MOG-rah-fee)). This is a type of x ray that takes a clear, detailed picture of your heart and pericardium. A cardiac CT helps rule out other causes of chest pain.

Cardiac MRI (magnetic resonance imaging). This test uses powerful magnets and radio waves to create detailed pictures of your organs and tissues. A cardiac MRI can show changes in the pericardium.

Your doctor also may recommend blood tests. These tests can help your doctor find out whether you've had a heart attack, the cause of your pericarditis, and how inflamed your pericardium is.


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[User] Do you have information about Air Pollution

[Assistant] Summary : Air pollution is a mixture of solid particles and gases in the air. Car emissions, chemicals from factories, dust, pollen and mold spores may be suspended as particles. Ozone, a gas, is a major part of air pollution in cities. When ozone forms air pollution, it's also called smog.    Some air pollutants are poisonous. Inhaling them can increase the chance you'll have health problems. People with heart or lung disease, older adults and children are at greater risk from air pollution. Air pollution isn't just outside - the air inside buildings can also be polluted and affect your health.    Environmental Protection Agency


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[User] How many people are affected by Erdheim-Chester disease ?

[Assistant] Erdheim-Chester disease is a rare disorder; its exact prevalence is unknown. More than 500 affected individuals worldwide have been described in the medical literature. For unknown reasons, men are slightly more likely to develop the disease, accounting for about 60 percent of cases.


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[User] What is (are) Porphyria ?

[Assistant]
Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. These disorders are usually inherited, meaning they are caused by abnormalities in genes passed from parents to children. When a person has a porphyria, cells fail to change body chemicals called porphyrins and porphyrin precursors into heme, the substance that gives blood its red color. The body makes heme mainly in the bone marrow and liver. Bone marrow is the soft, spongelike tissue inside the bones; it makes stem cells that develop into one of the three types of blood cellsred blood cells, white blood cells, and platelets.

The process of making heme is called the heme biosynthetic pathway. One of eight enzymes controls each step of the process. The body has a problem making heme if any one of the enzymes is at a low level, also called a deficiency. Porphyrins and porphyrin precursors of heme then build up in the body and cause illness.


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[User] What are the symptoms of Prostate Enlargement: Benign Prostatic Hyperplasia ?

[Assistant]
Lower urinary tract symptoms suggestive of benign prostatic hyperplasia may include

- urinary frequencyurination eight or more times a day  - urinary urgencythe inability to delay urination  - trouble starting a urine stream  - a weak or an interrupted urine stream  - dribbling at the end of urination  - nocturiafrequent urination during periods of sleep  - urinary retention  - urinary incontinencethe accidental loss of urine  - pain after ejaculation or during urination  - urine that has an unusual color or smell

Symptoms of benign prostatic hyperplasia most often come from

- a blocked urethra  - a bladder that is overworked from trying to pass urine through the blockage

The size of the prostate does not always determine the severity of the blockage or symptoms. Some men with greatly enlarged prostates have little blockage and few symptoms, while other men who have minimally enlarged prostates have greater blockage and more symptoms. Less than half of all men with benign prostatic hyperplasia have lower urinary tract symptoms.3

Sometimes men may not know they have a blockage until they cannot urinate. This condition, called acute urinary retention, can result from taking over-the-counter cold or allergy medications that contain decongestants, such as pseudoephedrine and oxymetazoline. A potential side effect of these medications may prevent the bladder neck from relaxing and releasing urine. Medications that contain antihistamines, such as diphenhydramine, can weaken the contraction of bladder muscles and cause urinary retention, difficulty urinating, and painful urination. When men have partial urethra blockage, urinary retention also can occur as a result of alcohol consumption, cold temperatures, or a long period of inactivity.


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[User] What are the symptoms of Congenital intrauterine infection-like syndrome ?

[Assistant] What are the signs and symptoms of Congenital intrauterine infection-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital intrauterine infection-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebral calcification 90% Hyperreflexia 90% Hypertonia 90% Microcephaly 90% Seizures 90% Abnormality of movement 50% Cerebral cortical atrophy 50% Cataract 5% Opacification of the corneal stroma 5% Renal insufficiency 5% Anteverted nares - Autosomal recessive inheritance - Cerebellar hypoplasia - Decreased liver function - Elevated hepatic transaminases - Failure to thrive - Hepatomegaly - High palate - Increased CSF protein - Intellectual disability, profound - Jaundice - Lissencephaly - Long philtrum - Low-set ears - Microretrognathia - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Petechiae - Phenotypic variability - Polymicrogyria - Sloping forehead - Spasticity - Splenomegaly - Thrombocytopenia - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] how common are these diseases for Marine Toxins ?

[Assistant] Every year, approximately 30 cases of poisoning by marine toxins are reported in the United States. Because healthcare providers are not required to report these illnesses and because many milder cases are not diagnosed or reported, the actual number of poisonings may be much greater. Toxic seafood poisonings are more common in the summer than winter because dinoflagelates grow well in warmer seasons. It is estimated from cases with available data that one person dies every 4 years from toxic seafood poisonings.


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[User] What are the genetic changes related to GM1 gangliosidosis ?

[Assistant] Mutations in the GLB1 gene cause GM1 gangliosidosis. The GLB1 gene provides instructions for making an enzyme called beta-galactosidase (-galactosidase), which plays a critical role in the brain. This enzyme is located in lysosomes, which are compartments within cells that break down and recycle different types of molecules. Within lysosomes, -galactosidase helps break down several molecules, including a substance called GM1 ganglioside. GM1 ganglioside is important for normal functioning of nerve cells in the brain.  Mutations in the GLB1 gene reduce or eliminate the activity of -galactosidase. Without enough functional -galactosidase, GM1 ganglioside cannot be broken down when it is no longer needed. As a result, this substance accumulates to toxic levels in many tissues and organs, particularly in the brain. Progressive damage caused by the buildup of GM1 ganglioside leads to the destruction of nerve cells in the brain, causing many of the signs and symptoms of GM1 gangliosidosis. In general, the severity of GM1 gangliosidosis is related to the level of -galactosidase activity. Individuals with higher enzyme activity levels usually have milder signs and symptoms than those with lower activity levels because they have less accumulation of GM1 ganglioside within the body.  Conditions such as GM1 gangliosidosis that cause molecules to build up inside the lysosomes are called lysosomal storage disorders.