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[User] What is (are) Goodpasture Syndrome ?

[Assistant]
Goodpasture syndrome is a pulmonary-renal syndrome, which is a group of acute illnesses involving the kidneys and lungs. Goodpasture syndrome includes all of the following conditions:

- glomerulonephritisinflammation of the glomeruli, which are tiny clusters of looping blood vessels in the kidneys that help filter wastes and extra water from the blood  - the presence of anti-glomerular basement membrane (GBM) antibodies; the GBM is part of the glomeruli and is composed of collagen and other proteins  - bleeding in the lungs

In Goodpasture syndrome, immune cells produce antibodies against a specific region of collagen. The antibodies attack the collagen in the lungs and kidneys.

Ernest Goodpasture first described the syndrome during the influenza pandemic of 1919 when he reported on a patient who died from bleeding in the lungs and kidney failure. Diagnostic tools to confirm Goodpasture syndrome were not available at that time, so it is not known whether the patient had true Goodpasture syndrome or vasculitis. Vasculitis is an autoimmune conditiona disorder in which the bodys immune system attacks the bodys own cells and organsthat involves inflammation in the blood vessels and can cause similar lung and kidney problems.

Goodpasture syndrome is sometimes called anti-GBM disease. However, anti-GBM disease is only one cause of pulmonary-renal syndromes, including Goodpasture syndrome.

Goodpasture syndrome is fatal unless quickly diagnosed and treated.


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[User] Is Pelizaeus-Merzbacher disease inherited ?

[Assistant] This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males, or may cause no symptoms at all. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. She can pass on the gene, but generally does not experience signs and symptoms of the disorder. Some females who carry a PLP1 mutation, however, may experience muscle stiffness and a decrease in intellectual function. Females with one PLP1 mutation have an increased risk of experiencing progressive deterioration of cognitive functions (dementia) later in life.


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[User] How to prevent Peripheral Arterial Disease (P.A.D.) ?

[Assistant] What Causes P.A.D.? The most common cause of P.A.D. is atherosclerosis, a buildup of plaque in the arteries. The exact cause of atherosclerosis isn't known. Certain people are at higher risk for developing atherosclerosis. The disease may start if certain factors damage the inner layers of the arteries. These factors include - smoking  - high amounts of certain fats and cholesterol in the blood   - high blood pressure   - high amounts of sugar in the blood due to insulin resistance or diabetes. smoking high amounts of certain fats and cholesterol in the blood high blood pressure high amounts of sugar in the blood due to insulin resistance or diabetes. The major risk factors for P.A.D. are smoking, older age, and having certain diseases or conditions. The Effects of Smoking Smoking is the main risk factor for P.A.D. Your risk of P.A.D. increases four times if you smoke or have a history of smoking. On average, people who smoke and develop P.A.D. have symptoms 10 years earlier than people who don't smoke and develop P.A.D. Quitting smoking slows the progress of P.A.D. Smoking even one or two cigarettes a day can interfere with P.A.D. treatments. People who smoke and people who have diabetes are at highest risk for P.A.D. complications such as gangrene (tissue death) in the leg from decreased blood flow. Older Age Older age also is a risk factor for P.A.D. Plaque builds up in your arteries as you age. About 1 in every 20 Americans over the age of 50 has P.A.D. The risk continues to rise as you get older. Older age combined with other factors, such as smoking or diabetes, also puts you at higher risk for P.A.D. Diseases That Put You at Risk Many diseases and conditions can raise your risk of P.A.D., including - diabetes. About 1 in 3 people older than 50 who has diabetes also has P.A.D.  - high blood pressure   - high blood cholesterol   - coronary heart disease (CHD)   - stroke   - metabolic syndrome (a group of risk factors that raise your risk of CHD and other health problems, such as P.A.D., stroke, and diabetes).  diabetes. About 1 in 3 people older than 50 who has diabetes also has P.A.D. high blood pressure high blood cholesterol coronary heart disease (CHD) stroke metabolic syndrome (a group of risk factors that raise your risk of CHD and other health problems, such as P.A.D., stroke, and diabetes). A family history of these conditions makes P.A.D. more likely. Reducing Your Risk for P.A.D. Taking action to control your risk factors can help prevent or delay P.A.D. There are several helpful lifestyle changes you can make. - Quit smoking. Smoking is the biggest risk factor for P.A.D.  - Eat a healthy diet. Look for foods that are low in total fat, saturated fat, trans fat, cholesterol, and sodium (salt).  - Get regular exercise and physical activity. Quit smoking. Smoking is the biggest risk factor for P.A.D. Eat a healthy diet. Look for foods that are low in total fat, saturated fat, trans fat, cholesterol, and sodium (salt). Get regular exercise and physical activity. These lifestyle changes can reduce your risk for P.A.D. and its complications. They can also help prevent and control conditions such as diabetes and high blood pressure that can lead to P.A.D.


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

[User] What is (are) Balance Problems ?

[Assistant] A balance disorder is a disturbance of the body systems controlling balance. This disturbance can make people feel dizzy, unsteady, or as if they were spinning. Balance disorders are a common cause of falls and fall-related injuries, such as hip fractures.


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

[User] What is (are) Nail Diseases ?

[Assistant] Your toenails and fingernails protect the tissues of your toes and fingers. They are made up of layers of a hardened protein called keratin, which is also in your hair and skin. The health of your nails can be a clue to your overall health. Healthy nails are usually smooth and consistent in color. Specific types of nail discoloration and changes in growth rate can be signs of lung, heart, kidney, and liver diseases, as well as diabetes and anemia. White spots and vertical ridges are harmless.    Nail problems that sometimes require treatment include       - Bacterial and fungal infections    - Ingrown nails    - Tumors    - Warts       Keeping your nails clean, dry, and trimmed can help you avoid some problems. Do not remove the cuticle, which can cause infection.


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[User] What are the genetic changes related to distal hereditary motor neuropathy, type V ?

[Assistant] Mutations in the BSCL2 and GARS genes cause distal hereditary motor neuropathy, type V.  The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown. Mutations in the BSCL2 gene likely alter the structure of seipin, causing it to fold into an incorrect 3-dimensional shape. Research findings indicate that misfolded seipin proteins accumulate in the endoplasmic reticulum, which is a structure inside the cell that is involved in protein processing and transport. This accumulation likely damages and kills motor neurons (specialized nerve cells in the brain and spinal cord that control muscle movement), leading to muscle weakness in the hands and feet.  The GARS gene provides instructions for making an enzyme called glycyl-tRNA synthetase, which is involved in the production (synthesis) of proteins. It is unclear how GARS gene mutations lead to distal hereditary motor neuropathy, type V. The mutations probably reduce the activity of glycyl-tRNA synthetase. A reduction in the activity of this enzyme may impair transmission of nerve impulses. As a result, nerve cells slowly lose the ability to communicate with muscles in the hands and feet.  Mutations in other genes may also cause distal hereditary motor neuropathy, type V.


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

[Assistant] Laron syndrome is a rare disorder. About 350 people have been diagnosed with the condition worldwide. The largest single group of affected individuals (about 100 people) lives in an area of southern Ecuador.


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[User] What are the treatments for Surviving Cancer ?

[Assistant] Fatigue, or feeling extremely tired, is a common complaint during the first year after cancer treatment ends. Many factors may contribute to treatment-related fatigue, including cancer therapy or other problems such as stress, poor nutrition, and depression. Researchers are still learning about the multiple reasons for fatigue after treatment.


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

[User] How many people are affected by Axenfeld-Rieger syndrome ?

[Assistant] Axenfeld-Rieger syndrome has an estimated prevalence of 1 in 200,000 people.


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

[User] what research (or clinical trials) is being done for Kennedy's Disease ?

[Assistant] The NINDS supports a broad spectrum of research on motor neuron diseases, such as Kennedy's disease. Much of this research is aimed at increasing scientific understanding of these diseases and, ultimately, finding ways to prevent, treat, and cure them.


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[User] What are the treatments for Thalassemia ?

[Assistant] How might thalassemia be treated? The best treatment options depend on the severity of thalassemia. People affected by a mild form often need little to no treatment, while people with intermediate to severe thalassemias may require frequent blood transfusions, iron chelation therapy (treatments to remove excess iron from the body), and/or folic acid supplementation. For more information on the treatment of thalassemia, please click here.


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[User] What are the treatments for Sickle Cell Disease ?

[Assistant]
Health Maintenance To Prevent Complications

Babies with sickle cell disease (SCD) should be referred to a doctor or provider group that has experience taking care of people with this disease. The doctor might be a hematologist (a doctor with special training in blood diseases) or an experienced general pediatrician, internist, or family practitioner.

For infants, the first SCD visit should take place before 8 weeks of age.

If someone was born in a country that doesnt perform newborn SCD screening, he or she might be diagnosed with SCD later in childhood. These people should also be referred as soon as possible for special SCD care.

Examining the person

Giving medicines and immunizations

Performing tests

Educating families about the disease and what to watch out for

Preventing Infection

In SCD, the spleen doesnt work properly or doesnt work at all. This problem makes people with SCD more likely to get severe infections.

Penicillin

In children with SCD, taking penicillin two times a day has been shown to reduce the chance of having a severe infection caused by the pneumococcus bacteria. Infants need to take liquid penicillin. Older children can take tablets.

Many doctors will stop prescribing penicillin after a child has reached the age of 5. Some prefer to continue this antibiotic throughout life, particularly if a person has hemoglobin SS or hemoglobin S0 thalassemia, since people with SCD are still at risk. All people who have had surgical removal of the spleen, called a splenectomy, or a past infection with pneumococcus should keep taking penicillin throughout life.

Immunizations

People with SCD should receive all recommended childhood vaccines. They should also receive additional vaccines to prevent other infections.

Pneumococcus. Even though all children routinely receive the vaccine against pneumococcus (PCV13), children with SCD should also receive a second kind of vaccine against pneumococcus (PPSV23). This second vaccine is given after 24 months of age and again 5 years later. Adults with SCD who have not received any pneumococcal vaccine should get a dose of the PCV13 vaccine. They should later receive the PPSV23 if they have not already received it or it has been more than 5 years since they did. A person should follow these guidelines even if he or she is still taking penicillin.

Influenza. All people with SCD should receive an influenza shot every year at the start of flu season. This should begin at 6 months of age. Only the inactivated vaccine, which comes as a shot, should be used in people with SCD.

Meningococcus. A child with SCD should receive this vaccine (Menactra or Menveo) at 2, 4, 6, and 1215 months of age. The child should receive a booster vaccine 3 years after this series of shots, then every 5 years after that.

Screening Tests and Evaluations

Height, Weight, Blood Pressure, and Oxygen Saturation

Doctors will monitor height and weight to be sure that a child is growing properly and that a person with SCD is maintaining a healthy weight.

Doctors will also track a persons blood pressure. When a person with SCD has high blood pressure, it needs to be treated promptly because it can increase the risk of stroke.

Oxygen saturation testing provides information about how much oxygen the blood is carrying.

Blood and Urine Testing

People with SCD need to have frequent lab tests.

Blood tests help to establish a persons baseline for problems like anemia. Blood testing also helps to show whether a person has organ damage, so that it can be treated early.

Urine testing can help to detect early kidney problems or infections.

Transcranial Doppler (TCD) Ultrasound Screening

Children who have hemoglobin SS or hemoglobin S0 thalassemia and are between the ages of 2 and 16 should have TCD testing once a year.

This study can find out whether a child is at higher risk for stroke. When the test is abnormal, regular blood transfusions can decrease the chances of having a stroke.

The child is awake during the TCD exam. The test does not hurt at all. The TCD machine uses sound waves to measure blood flow like the ultrasound machine used to examine pregnant women.

Eye Examinations

An eye doctor, or ophthalmologist, should examine a persons eyes every 12 years from the age of 10 onwards.

These exams can detect if there are SCD-related problems of the eye. Regular exams can help doctors find and treat problems early to prevent loss of vision. A person should see his or her doctor right away for any sudden change in vision.

Pulmonary Hypertension

Doctors have different approaches to screening for pulmonary hypertension. This is because studies have not given clear information as to when and how a person should receive the screening. People with SCD and their caretakers should discuss with their doctor whether screening makes sense for them.

Cognitive Screening

People with sickle cell disease can develop cognitive (thinking) problems that may be hard to notice early in life.

Sometimes these problems are caused by silent strokes that can only be seen with magnetic resonance imaging (MRI) of the brain.

People with SCD should tell their doctors or nurses if they have thinking problems, such as difficulties learning in school, slowed decision making, or trouble organizing their thoughts.

People can be referred for cognitive testing. This testing can identify areas in which a person could use extra help.

Children with SCD who have thinking problems may qualify for an Individualized Education Program, or IEP. An IEP is a plan that helps students to reach their educational goals. Adults may be able to enroll in vocational rehabilitation programs that can help them with job training.

Education and Guidance

Doctors and other providers will talk with people who have SCD and their caretakers about complications and also review information at every visit.

Because there are a lot of things to discuss, new topics are often introduced as a child or adult reaches an age when that subject is important to know about.

Doctors and nurses know that there is a lot of information to learn, and they dont expect people to know everything after one discussion. People with SCD and their families should not be afraid to ask questions.

Topics that are usually covered include:

Hours that medical staff are available and contact information to use when people with SCD or caretakers have questions

A plan for what to do and where to get care if a person has a fever, pain, or other signs of SCD complications that need immediate attention

How SCD is inherited and the risk of having a child with SCD

The importance of regular medical visits, screening tests, and evaluations

How to recognize and manage pain

How to palpate (feel) a childs spleen. Because of the risk of splenic sequestration crisis, caretakers should learn how to palpate a childs spleen. They should try to feel for the spleen daily and more frequently when the child is ill. If they feel that the spleen is bigger than usual, they should call the care provider.

Transitioning Care

When children with SCD become adolescents or young adults, they often need to transition from a pediatric care team to an adult care team. This period has been shown to be associated with increased hospital admissions and medical problems. There seem to be many reasons for this.

Some of the increased risk is directly related to the disease. As people with SCD get older, they often develop more organ damage and more disabilities.

The shift in care usually occurs at the same time that adolescents are undergoing many changes in their emotional, social, and academic lives. The transition to more independent self-management may be difficult, and following treatment plans may become less likely.

When compared with pediatrics, there are often fewer adult SCD programs available in a given region. This makes it more difficult for a person with SCD to find appropriate doctors, particularly those with whom they feel comfortable.

To improve use of regular medical care by people with SCD and to reduce age-related complications, many SCD teams have developed special programs that the make transition easier. Such programs should involve the pediatric and the adult care teams. They should also start early and continue over several years.

Managing Some Complications of SCD

Acute Pain

Each person with SCD should have a home treatment regimen that is best suited to their needs. The providers on the SCD team usually help a person develop a written, tailored care plan. If possible, the person with SCD should carry this plan with them when they go to the emergency room.

When an acute crisis is just starting, most doctors will advise the person to drink lots of fluids and to take a non-steroidal anti-inflammatory (NSAID) pain medication, such as ibuprofen. When a person has kidney problems, acetaminophen is often preferred.

If pain persists, many people will find that they need a stronger medicine.

Combining additional interventions, such as massage, relaxation methods, or a heating pad, may also help.

If a person with SCD cannot control the pain at home, he or she should go to an SCD day hospital/outpatient unit or an emergency room to receive additional, stronger medicines and intravenous (IV) fluids.

Some people may be able to return home once their pain is under better control. In this case, the doctor may prescribe additional pain medicines for a short course of therapy.

People often need to be admitted to the hospital to fully control an acute pain crisis.

When taken daily, hydroxyurea has been found to decrease the number and severity of pain episodes.

Chronic Pain

Sometimes chronic pain results from a complication, such as a leg ulcer or aseptic necrosis of the hip. In this case, doctors try to treat the complication causing the pain.

While chronic pain is common in adults with SCD, the cause is often poorly understood. Taking pain medicines daily may help to decrease the pain. Some examples of these medicines include:

NSAID drugs, such as ibuprofen

Duloxetine

Gabapentin

Amitriptyline

Strong pain medicines, such as opiates

Other approaches, such as massage, heat, or acupuncture may be helpful in some cases. Chronic pain often comes with feelings of depression and anxiety. Supportive counseling and, sometimes, antidepressant medicines may help. (See coping and emotional issues.)

Severe Anemia

People should see their doctors or go to a hospital right away if they develop anemia symptoms from a splenic sequestration crisis or an aplastic crisis. These conditions can be life-threatening, and the person will need careful monitoring and treatment in the hospital. A person also usually needs a blood transfusion.

People with SCD and symptoms of severe anemia from other causes should also see a doctor right away.

Infections

Fever is a medical emergency in SCD. All caretakers of infants and children with SCD should take their child to their doctor or go to a hospital right away when their child has a fever. Adults with SCD should also seek care for fever or other signs of infection.

All children and adults who have SCD and a fever (over 38.50 C or 101.30 F) must be seen by a doctor and treated with antibiotics right away.

Some people will need to be hospitalized, while others may receive care and follow-up as an outpatient.

Acute Chest Syndrome

People with SCD and symptoms of acute chest syndrome should see their doctor or go to a hospital right away.

They will need to be admitted to the hospital where they should receive antibiotics and close monitoring. They may need oxygen therapy and a blood transfusion.

When taken daily, the medicine hydroxyurea has been found to decrease the number and severity of acute chest events.

Clinical Stroke

People with SCD who have symptoms of stroke should be brought to the hospital right away by an ambulance. If a person is having symptoms of stroke, someone should call 9-1-1.

Symptoms of stroke may include:

Weakness of an arm or leg on one side of the body

Trouble speaking, walking, or understanding

Loss of balance

Severe headache

If imaging studies reveal that the person has had an acute stroke, he or she may need an exchange transfusion. This procedure involves slowly removing an amount of the persons blood and replacing it with blood from a donor who does not have SCD or sickle cell trait. Afterward, the person may need to receive monthly transfusions or other treatments to help to prevent another stroke.

Silent Stroke and Cognitive Problems

Children and adults with SCD and cognitive problems may be able to get useful help based upon the results of their testing. For instance, children may qualify for an IEP. Adults may be able to enroll in vocational, or job, training programs.

Priapism

Sometimes, a person may be able to relieve priapism by:

Emptying the bladder by urinating

Taking medicine

Increasing fluid intake

Doing light exercise

If a person has an episode that lasts for 4 hours or more, he should go to the hospital to see a hematologist and urologist.

Pregnancy

Pregnant women with SCD are at greater risk for problems. They should always see an obstetrician, or OB, who has experience with SCD and high-risk pregnancies and deliveries.

The obstetrician should work with a hematologist or primary medical doctor who is well informed about SCD and its complications.

Pregnant women with SCD need more frequent medical visits so that their doctors can follow them closely. The doctor may prescribe certain vitamins and will be careful to prescribe pain medicines that are safe for the baby.

A pregnant woman with SCD may need to have one or more blood transfusions during her pregnancy to treat complications, such as worsening anemia or an increased number of pain or acute chest syndrome events.

Hydroxyurea

What Is Hydroxyurea?

Hydroxyurea is an oral medicine that has been shown to reduce or prevent several SCD complications.

This medicine was studied in patients with SCD because it was known to increase the amount of fetal hemoglobin (hemoglobin F) in the blood. Increased hemoglobin F provides some protection against the effects of hemoglobin S.

Hydroxyurea was later found to have several other benefits for a person with SCD, such as decreasing inflammation.

Use in adults. Many studies of adults with hemoglobin SS or hemoglobin S thalassemia showed that hydroxyurea reduced the number of episodes of pain crises and acute chest syndrome. It also improved anemia and decreased the need for transfusions and hospital admissions.

Use in children. Studies in children with severe hemoglobin SS or S thalassemia showed that hydroxyurea reduced the number of vaso-occlusive crises and hospitalizations. A study of very young children (between the ages of 9 and 18 months) with hemoglobin SS or hemoglobin S thalassemia also showed that hydroxyurea decreased the number of episodes of pain and dactylitis.

Who Should Use Hydroxyurea?

Since hydroxyurea can decrease several complications of SCD, most experts recommend that children and adults with hemoglobin SS or S0 thalassemia who have frequent painful episodes, recurrent chest crises, or severe anemia take hydroxyurea daily.

Some experts offer hydroxyurea to all infants over 9 months of age and young children with hemoglobin SS or S0 thalassemia, even if they do not have severe clinical problems, to prevent or reduce the chance of complications. There is no information about how safe or effective hydroxyurea is in children under 9 months of age.

Some experts will prescribe hydroxyurea to people with other types of SCD who have severe, recurrent pain. There is little information available about how effective hydroxyurea is for these types of SCD.

In all situations, people with SCD should discuss with their doctors whether or not hydroxyurea is an appropriate medication for them.

Pregnant women should not use hydroxyurea.

How Is Hydroxyurea Taken?

To work properly, hydroxyurea should be taken by mouth daily at the prescribed dose. When a person does not take it regularly, it will not work as well, or it wont work at all.

A person with SCD who is taking hydroxyurea needs careful monitoring. This is particularly true in the early weeks of taking the medicine. Monitoring includes regular blood testing and dose adjustments.

What Are the Risks of Hydroxyurea?

Hydroxyurea can cause the bloods white cell count or platelet count to drop. In rare cases, it can worsen anemia. These side effects usually go away quickly if a person stops taking the medication. When a person restarts it, a doctor usually prescribes a lower dose.

Other short-term side effects are less common.

It is still unclear whether hydroxyurea can cause problems later in life in people with SCD who take it for many years. Studies so far suggest that it does not put people at a higher risk of cancer and does not affect growth in children. But further studies are needed.

Red Blood Cell Transfusions

Doctors may use acute and chronic red blood cell transfusions to treat and prevent certain SCD complications. The red blood cells in a transfusion have normal hemoglobin in them.

A transfusion helps to raise the number of red blood cells and provides normal red blood cells that are more flexible than red blood cells with sickle hemoglobin. These cells live longer in the circulation. Red blood cell transfusions decrease vaso-occlusion (blockage in the blood vessel) and improve oxygen delivery to the tissues and organs.

Acute Transfusion in SCD

Doctors use blood transfusions in SCD for complications that cause severe anemia. They may also use them when a person has an acute stroke, in many cases of acute chest crises, and in multi-organ failure.

A person with SCD usually receives blood transfusions before surgery to prevent SCD-related complications afterwards.

Chronic Transfusion

Doctors recommend regular or ongoing blood transfusions for people who have had an acute stroke, since transfusions decrease the chances of having another stroke.

Doctors also recommend chronic blood transfusions for children who have abnormal TCD ultrasound results because transfusions can reduce the chance of having a first stroke.

Some doctors use this approach to treat complications that do not improve with hydroxyurea. They may also use transfusions in people who have too many side effects from hydroxyurea.

What Are the Risks of Transfusion Therapy?

Possible complications include:

Hemolysis

Iron overload, particularly in people receiving chronic transfusions (can severely impair heart and lung function)

Infection

Alloimmunization (can make it hard to find a matching unit of blood for a future transfusion)

All blood banks and hospital personnel have adopted practices to reduce the risk of transfusion problems.

People with SCD who receive transfusions should be monitored for and immunized against hepatitis. They should also receive regular screenings for iron overload. If a person has iron overload, the doctor will give chelation therapy, a medicine to reduce the amount of iron in the body and the problems that iron overload causes.

Hematopoietic Stem Cell Transplantation

At the present time, hematopoietic stem cell transplantation (HSCT) is the only cure for SCD. People with SCD and their families should ask their doctor about this procedure.

What Are Stem Cells?

Stem cells are special cells that can divide over and over again. After they divide, these cells can go on to become blood red cells, white cells, or platelets.

A person with SCD has stem cells that make red blood cells that can sickle. People without SCD have stem cells that make red cells that usually wont sickle.

What Stem Cells Are Used in HSCT?

In HSCT, stem cells are taken from the bone marrow or blood of a person who does not have sickle cell disease (the donor). The donor, however, may have sickle cell trait.

The donor is often the persons sister or brother. This is because the safest and most successful transplants use stem cells that are matched for special proteins called HLA antigens. Since these antigens are inherited from parents, a sister or brother is the most likely person to have the same antigens as the person with SCD.

What Happens During HSCT?

First, stem cells are taken from the donor. After this, the person with SCD (the recipient) is treated with drugs that destroy or reduce his or her own bone marrow stem cells.

The donor stem cells are then injected into the persons vein. The injected cells will make a home in the recipients bone marrow, gradually replacing the recipients cells. The new stem cells will make red cells that do not sickle.

Which People Receive HSCT?

At the present time, most SCD transplants are performed in children who have had complications such as strokes, acute chest crises, and recurring pain crises. These transplants usually use a matched donor.

Because only about 1 in 10 children with SCD has a matched donor without SCD in their families, the number of people with SCD who get transplants is low.

HSCT is more risky in adults, and that is why most transplants are done in children.

There are several medical centers that are researching new SCD HSCT techniques in children and adults who dont have a matched donor in the family or are older than most recipients. Hopefully, more people with SCD will be able to receive a transplant in the future, using these new methods.

What Are the Risks?

HSCT is successful in about 85 percent of children when the donor is related and HLA matched. Even with this high success rate, HSCT still has risks.

Complications can include severe infections, seizures, and other clinical problems. About 5 percent of people have died. Sometimes transplanted cells attack the recipients organs (graft versus host disease).

Medicines are given to prevent many of the complications, but they still can happen.


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[User] What are the genetic changes related to deafness-dystonia-optic neuronopathy syndrome ?

[Assistant] Mutations in the TIMM8A gene cause DDON syndrome. The protein produced from this gene is found inside the energy-producing centers of cells (mitochondria). The TIMM8A protein forms a complex (a group of proteins that work together) with a very similar protein called TIMM13. This complex functions by transporting other proteins within the mitochondria.  Most mutations in the TIMM8A gene result in the absence of functional TIMM8A protein inside the mitochondria, which prevents the formation of the TIMM8A/TIMM13 complex. Researchers believe that the lack of this complex leads to abnormal protein transport, although it is unclear how abnormal protein transport affects the function of the mitochondria and causes the signs and symptoms of DDON syndrome.


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[User] What is (are) Hereditary leiomyomatosis and renal cell cancer ?

[Assistant] Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a condition that causes benign tumors of smooth muscle tissue in the skin (cutaneous leiomyomas) and in the uterus in females (uterine leiomyomas, or fibroids). The condition also increases the risk of kidney cancer. Signs and symptoms usually begin in adulthood as skin growths appear on the torso, arms, legs, and occasionally on the face. They tend to increase in size and number over time. About 10% to 16% of people with HLRCC develop a type of kidney cancer called renal cell cancer; symptoms of this cancer may include lower back pain, blood in the urine, and/or a mass in the kidney that can be felt by a physician. Some people have no symptoms until the cancer is advanced. HLRCC is caused by mutations in the FH gene and is inherited in an autosomal dominant manner.


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[User] How to prevent Parasites - Lice - Head Lice ?

[Assistant]
Head lice are spread most commonly by direct head-to-head (hair-to-hair) contact. However, much less frequently they are spread by sharing clothing or belongings onto which lice have crawled or nits attached to shed hairs may have fallen. The risk of getting infested by a louse that has fallen onto a carpet or furniture is very small. Head lice survive less than 1–2 days if they fall off a person and cannot feed; nits cannot hatch and usually die within a week if they are not kept at the same temperature as that found close to the scalp.

The following are steps that can be taken to help prevent and control the spread of head lice:

     - Avoid head-to-head (hair-to-hair) contact during play and other activities at home, school, and elsewhere (sports activities, playground, slumber parties, camp).
     - Do not share clothing such as hats, scarves, coats, sports uniforms, hair ribbons, or barrettes.
     - Do not share combs, brushes, or towels. Disinfest combs and brushes used by an infested person by soaking them in hot water (at least 130°F) for 5–10 minutes.
     - Do not lie on beds, couches, pillows, carpets, or stuffed animals that have recently been in contact with an infested person.
     - Machine wash and dry clothing, bed linens, and other items that an infested person wore or used during the 2 days before treatment using the hot water (130°F) laundry cycle and the high heat drying cycle. Clothing and items that are not washable can be dry-cleaned OR sealed in a plastic bag and stored for 2 weeks.
     - Vacuum the floor and furniture, particularly where the infested person sat or lay. However, spending much time and money on housecleaning activities is not necessary to avoid reinfestation by lice or nits that may have fallen off the head or crawled onto furniture or clothing.
     - Do not use fumigant sprays or fogs; they are not necessary to control head lice and can be toxic if inhaled or absorbed through the skin.

To help control a head lice outbreak in a community, school, or camp, children can be taught to avoid activities that may spread head lice.


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[User] What are the genetic changes related to 5-alpha reductase deficiency ?

[Assistant] Mutations in the SRD5A2 gene cause 5-alpha reductase deficiency. The SRD5A2 gene provides instructions for making an enzyme called steroid 5-alpha reductase 2. This enzyme is involved in processing androgens, which are hormones that direct male sexual development. Specifically, the enzyme is responsible for a chemical reaction that converts the hormone testosterone to DHT. DHT is essential for the normal development of male sex characteristics before birth, particularly the formation of the external genitalia.  Mutations in the SRD5A2 gene prevent steroid 5-alpha reductase 2 from effectively converting testosterone to DHT in the developing reproductive tissues. These hormonal factors underlie the changes in sexual development seen in infants with 5-alpha reductase deficiency.  During puberty, the testes produce more testosterone. Researchers believe that people with 5-alpha reductase deficiency develop secondary male sex characteristics in response to higher levels of this hormone. Some affected people also retain a small amount of 5-alpha reductase 2 activity, which may produce DHT and contribute to the development of secondary sex characteristics during puberty.


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[User] What causes Hallermann-Streiff syndrome ?

[Assistant] What causes Hallermann-Streiff syndrome? The genetic cause of Hallerman-Streiff syndrome has not been identified. It reportedly typically occurs randomly for unknown reasons (sporadically), most likely due to a new spontaneous (de novo) mutation in the affected individual.


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[User] What are the symptoms of Pierson syndrome ?

[Assistant] What are the signs and symptoms of Pierson syndrome? The features and severity of Pierson syndrome can vary among affected people. Affected infants are usually born with serious and progressive kidney disease due to congenital nephrotic syndrome, although some do not have kidney failure until adulthood. Most require a renal transplant for end-stage kidney disease within the first decade of life. Ocular (eye) abnormalities are another common feature of Pierson syndrome. Most affected infants are born with abnormally small pupils (microcoria). Other ocular abnormalities may include cataracts, glaucoma, retinal detachments, and blindness. Those that survive past infancy typically have neurological disabilities and developmental delays. Many children with Pierson syndrome don't achieve normal milestones such as sitting, standing, and talking. The Human Phenotype Ontology provides the following list of signs and symptoms for Pierson 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) Abnormality of movement 90% Cataract 90% EEG abnormality 90% Hematuria 90% Hemiplegia/hemiparesis 90% Hypertension 90% Muscular hypotonia 90% Nephrotic syndrome 90% Nystagmus 90% Proteinuria 90% Hypoplasia of penis 50% Areflexia - Autosomal recessive inheritance - Blindness - Diffuse mesangial sclerosis - Edema - Hypoplasia of the ciliary body - Hypoplasia of the iris - Hypoproteinemia - Neonatal onset - Posterior lenticonus - Stage 5 chronic kidney disease - 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] Do you have information about Pain Relievers

[Assistant] Summary : Pain relievers are medicines that reduce or relieve headaches, sore muscles, arthritis, or other aches and pains. There are many different pain medicines, and each one has advantages and risks. Some types of pain respond better to certain medicines than others. Each person may also have a slightly different response to a pain reliever.     Over-the-counter (OTC) medicines are good for many types of pain. There are two main types of OTC pain medicines: acetaminophen (Tylenol) and nonsteroidal anti-inflammatory drugs (NSAIDs). Aspirin, naproxen (Aleve), and ibuprofen (Advil, Motrin) are examples of OTC NSAIDs.    If OTC medicines don't relieve your pain, your doctor may prescribe something stronger. Many NSAIDs are also available at higher prescription doses. The most powerful pain relievers are narcotics. They are very effective, but they can sometimes have serious side effects. Because of the risks, you must use them only under a doctor's supervision.    There are many things you can do to help ease pain. Pain relievers are just one part of a pain treatment plan.


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[User] What causes Alport syndrome ?

[Assistant] What causes Alport syndrome? Alport syndrome may be caused by mutations in either the COL4A3, COL4A4, or COL4A5 genes. These genes each provide instructions for making one component of a protein called type IV collagen, which plays an important role in the glomeruli of the kidneys. Glomeruli are clusters of specialized blood vessels that remove water and waste products from the blood and create urine. Mutations in the genes mentioned above result in abnormalities of the type IV collagen in glomeruli, which prevents the kidneys from properly filtering the blood. As a result, blood and protein pass into the urine. Over time, the kidneys become scarred and many people with Alport syndrome develop kidney failure. Type IV collagen is also an important component of the organ of Corti, an inner ear structure that transforms sound waves into nerve impulses for the brain. Alterations in type IV collagen may result in abnormal inner ear function, which can lead to hearing loss. In addition, type IV collagen plays a role in the eye, where it helps maintain the shape of the lens and the normal color of the retina. Mutations found in Alport syndrome may affect the shape of the lenses and the color of the retina.


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[User] How many people are affected by fibrodysplasia ossificans progressiva ?

[Assistant] Fibrodysplasia ossificans progressiva is a very rare disorder, believed to occur in approximately 1 in 2 million people worldwide. Several hundred cases have been reported.


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[User] What is (are) Dry Mouth ?

[Assistant] Dry mouth is the feeling that there is not enough saliva in the mouth. Everyone has dry mouth once in a while -- if they are nervous, upset, under stress, or taking certain medications. But if you have dry mouth all or most of the time, see a dentist or physician. Many older adults have dry mouth, but it is not a normal part of aging. (Watch the video to learn more about dry mouth. 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.) Why Saliva is Important Saliva does more than keep your mouth wet. It protects teeth from decay, helps heal sores in your mouth, and prevents infection by controlling bacteria, viruses, and fungi in the mouth. Saliva helps digest food and helps us chew and swallow. Saliva is involved in taste perception as well. Each of these functions of saliva is hampered when a person has dry mouth. How Dry Mouth Feels Dry mouth can be uncomfortable. Some people notice a sticky, dry feeling in the mouth. Others notice a burning feeling or difficulty while eating. The throat may feel dry, too, making swallowing difficult and choking common. Also, people with dry mouth may get mouth sores, cracked lips, and a dry, rough tongue.


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[User] What is (are) Traumatic Brain Injury ?

[Assistant] Traumatic brain injury (TBI) happens when a bump, blow, jolt, or other head injury causes damage to the brain. Every year, millions of people in the U.S. suffer brain injuries. More than half are bad enough that people must go to the hospital. The worst injuries can lead to permanent brain damage or death. Half of all TBIs are from motor vehicle accidents. Military personnel in combat zones are also at risk.    Symptoms of a TBI may not appear until days or weeks following the injury. A concussion is the mildest type. It can cause a headache or neck pain, nausea, ringing in the ears, dizziness, and tiredness. People with a moderate or severe TBI may have those, plus other symptoms:       - A headache that gets worse or does not go away    - Repeated vomiting or nausea    - Convulsions or seizures    - Inability to awaken from sleep    - Slurred speech    - Weakness or numbness in the arms and legs    - Dilated eye pupils       Health care professionals use a neurological exam and imaging tests to assess TBI. Serious traumatic brain injuries need emergency treatment. Treatment and outcome depend on how severe the injury is. TBI can cause a wide range of changes affecting thinking, sensation, language, or emotions. TBI can be associated with post-traumatic stress disorder. People with severe injuries usually need rehabilitation.     NIH: National Institute of Neurological Disorders and Stroke


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[User] What is (are) Cockayne syndrome ?

[Assistant] Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities.  Cockayne syndrome type 1 (type A) is sometimes called classic or "moderate" Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the severe or "early-onset" type. This more severe form presents with growth and developmental abnormalities at birth. The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern. The typical lifespan for individuals with Cockayne syndrome type 1 is ten to twenty years. Individuals with type 2 usually do not survive past childhood. Those with type 3 live into middle adulthood.


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[User] What are the genetic changes related to uromodulin-associated kidney disease ?

[Assistant] Mutations in the UMOD gene cause uromodulin-associated kidney disease. This gene provides instructions for making the uromodulin protein, which is produced by the kidneys and then excreted from the body in urine. The function of uromodulin remains unclear, although it is known to be the most abundant protein in the urine of healthy individuals. Researchers have suggested that uromodulin may protect against urinary tract infections. It may also help control the amount of water in urine.  Most mutations in the UMOD gene change single protein building blocks (amino acids) used to make uromodulin. These mutations alter the structure of the protein, preventing its release from kidney cells. Abnormal buildup of uromodulin may trigger the self-destruction (apoptosis) of cells in the kidneys, causing progressive kidney disease.


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

[Assistant] The NINDS supports research on disorders of the brain and nervous system such as neurotoxicity, aimed at learning more about these disorders and finding ways to prevent and treat them. Scientists are investigating the role occupational or environmental toxicants have on progressive neurodegenerative disorders such as Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, and dementia. Also being studied are the mechanisms that trigger neuroimmune responses in the central nervous system and the possibility that some brain disorders in children may occur when environmental triggers interact with genes.


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[User] How many people are affected by sudden infant death with dysgenesis of the testes syndrome ?

[Assistant] SIDDT has been diagnosed in more than 20 infants from a single Old Order Amish community in Pennsylvania. The condition has not been reported outside this community.


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[User] Is hereditary hemochromatosis inherited ?

[Assistant] Types 1, 2, and 3 hemochromatosis are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but do not show signs and symptoms of the condition.  Type 4 hemochromatosis is distinguished by its autosomal dominant inheritance pattern. With this type of inheritance, one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.


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[User] Who is at risk for Lip and Oral Cavity Cancer? ?

[Assistant] Tobacco and alcohol use can affect the risk of lip and oral cavity cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for lip and oral cavity cancer include the following:         - Using tobacco products.    - Heavy alcohol use.    - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time.    - Being male.


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[User] What are the treatments for Cornelia de Lange syndrome ?

[Assistant] These resources address the diagnosis or management of Cornelia de Lange syndrome:  - Gene Review: Gene Review: Cornelia de Lange Syndrome  - Genetic Testing Registry: De Lange syndrome  - MedlinePlus Encyclopedia: Autism  - MedlinePlus Encyclopedia: Microcephaly   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) Emanuel syndrome ?

[Assistant] Emanuel syndrome is a chromosome disorder that causes problems with physical and intellectual development. Signs and symptoms can vary but may include severe intellectual disability; small head size (microcephaly); failure to thrive; cleft palate or high-arched palate; small jaw (micrognathia); congenital heart defects; and abnormalities of the ears, kidneys, and/or male genitals. It is caused by having extra material from chromosomes 11 and 22 in each cell. Almost all people with Emanuel syndrome inherit the extra chromosome material from an unaffected parent with a balanced translocation. Treatment focuses on the specific signs and symptoms in each person.


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[User] How to diagnose Urinary Incontinence ?

[Assistant] The first step in treating urinary incontinence is to see a health care provider. He or she will give you a physical exam and take your medical history. The provider will ask about your symptoms and the medicines you use. He or she will want to know if you have been sick recently or have had surgery. Your provider also may do a number of tests. These might include - urine tests  - tests that measure how well you empty your bladderusually by ultrasound. urine tests tests that measure how well you empty your bladderusually by ultrasound. In addition, your health care provider may ask you to keep a daily diary of when you urinate and when you leak urine. Your family provider may also send you to a urologist or urogynecologist, doctors who specialize in urinary tract problems Get tips on choosing a health care provider. (Watch the video above to learn more about what to expect when seeking care for a bladder problem. 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] What is (are) tyrosine hydroxylase deficiency ?

[Assistant] Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe.  The mild form of this disorder is called TH-deficient dopa-responsive dystonia (DRD). Symptoms usually appear during childhood. Affected individuals may exhibit unusual limb positioning and a lack of coordination when walking or running. In some cases, people with TH-deficient DRD have additional movement problems such as shaking when holding a position (postural tremor) or involuntary upward-rolling movements of the eyes. The movement difficulties may slowly increase with age but almost always get better with medical treatment.  The severe forms of TH deficiency are called infantile parkinsonism and progressive infantile encephalopathy. These forms of the disorder appear soon after birth and are more difficult to treat effectively.  Babies with infantile parkinsonism have delayed development of motor skills such as sitting unsupported or reaching for a toy. They may have stiff muscles, especially in the arms and legs; unusual body positioning; droopy eyelids (ptosis); and involuntary upward-rolling eye movements. The autonomic nervous system, which controls involuntary body functions, may also be affected. Resulting signs and symptoms can include constipation, backflow of stomach acids into the esophagus (gastroesophageal reflux), and difficulty regulating blood sugar, body temperature, and blood pressure. People with the infantile parkinsonism form of the disorder may have intellectual disability, speech problems, attention deficit disorder, and psychiatric conditions such as depression, anxiety, or obsessive-compulsive behaviors.  Progressive infantile encephalopathy is an uncommon severe form of TH deficiency. It is characterized by brain dysfunction and structural abnormalities leading to profound physical and intellectual disability.


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[User] What is the outlook for Inflammatory Myopathies ?

[Assistant] Most cases of dermatomyositis respond to therapy. The prognosis for polymyositis varies. Most individuals respond fairly well to therapy, but some people have a more severe disease that does not respond adequately to therapies and are left with significant disability. IBM is generally resistant to all therapies and its rate of progression appears to be unaffected by currently available treatments.


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[User] What is (are) microcephalic osteodysplastic primordial dwarfism type II ?

[Assistant] Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a condition characterized by short stature (dwarfism) with other skeletal abnormalities (osteodysplasia) and an unusually small head size (microcephaly). The growth problems in MOPDII are primordial, meaning they begin before birth, with affected individuals showing slow prenatal growth (intrauterine growth retardation). After birth, affected individuals continue to grow at a very slow rate. The final adult height of people with this condition ranges from 20 inches to 40 inches. Other skeletal abnormalities in MOPDII include abnormal development of the hip joints (hip dysplasia), thinning of the bones in the arms and legs, an abnormal side-to-side curvature of the spine (scoliosis), and shortened wrist bones. In people with MOPDII head growth slows over time; affected individuals have an adult brain size comparable to that of a 3-month-old infant. However, intellectual development is typically normal.  People with this condition typically have a high-pitched, nasal voice that results from a narrowing of the voicebox (subglottic stenosis). Facial features characteristic of MOPDII include a prominent nose, full cheeks, a long midface, and a small jaw. Other signs and symptoms seen in some people with MOPDII include small teeth (microdontia) and farsightedness. Over time, affected individuals may develop areas of abnormally light or dark skin coloring (pigmentation).  Many individuals with MOPDII have blood vessel abnormalities. For example, some affected individuals develop a bulge in one of the blood vessels at the center of the brain (intracranial aneurysm). These aneurysms are dangerous because they can burst, causing bleeding within the brain. Some affected individuals have Moyamoya disease, in which arteries at the base of the brain are narrowed, leading to restricted blood flow. These vascular abnormalities are often treatable, though they increase the risk of stroke and reduce the life expectancy of affected individuals.


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[User] What is (are) glutathione synthetase deficiency ?

[Assistant] Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (carcinogens), and building DNA, proteins, and other important cellular components.  Glutathione synthetase deficiency can be classified into three types: mild, moderate, and severe. Mild glutathione synthetase deficiency usually results in the destruction of red blood cells (hemolytic anemia). In addition, affected individuals may release large amounts of a compound called 5-oxoproline in their urine (5-oxoprolinuria). This compound builds up when glutathione is not processed correctly in cells.  Individuals with moderate glutathione synthetase deficiency may experience symptoms beginning shortly after birth including hemolytic anemia, 5-oxoprolinuria, and elevated acidity in the blood and tissues (metabolic acidosis).  In addition to the features present in moderate glutathione synthetase deficiency, individuals affected by the severe form of this disorder may experience neurological symptoms. These problems may include seizures; a generalized slowing down of physical reactions, movements, and speech (psychomotor retardation); intellectual disability; and a loss of coordination (ataxia). Some people with severe glutathione synthetase deficiency also develop recurrent bacterial infections.


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[User] What are the symptoms of Esthesioneuroblastoma ?

[Assistant] What symptoms are associated with esthesioneuroblastoma? Symptoms of esthesioneuroblastoma may include one or more of the following: Nasal obstruction Loss of smell Chronic sinus infections (sinusitis) Nasal bleeding Sinus pain and headache  Visual changes


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[User] What is (are) Arts syndrome ?

[Assistant] Arts syndrome is characterized by sensorineural hearing loss and serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Arts syndrome is caused by mutations in the PRPS1 gene which is located on the X chromosome. It is inherited in an X-linked recessive manner.


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[User] What is (are) Childhood Ependymoma ?

[Assistant]
Key Points
                    - Childhood ependymoma is a disease in which malignant (cancer) cells form in the tissues of the brain and spinal cord.    - There are different types of ependymomas.    - The part of the brain that is affected depends on where the ependymoma forms.    - The cause of most childhood brain tumors is unknown.    - The signs and symptoms of childhood ependymoma are not the same in every child.    - Tests that examine the brain and spinal cord are used to detect (find) childhood ependymoma.    - Childhood ependymoma is diagnosed and removed in surgery.    - Certain factors affect prognosis (chance of recovery) and treatment options.

                    Childhood ependymoma is a disease in which malignant (cancer) cells form in the tissues of the brain and spinal cord.
                    The brain controls vital functions such as memory and learning, emotion, and the senses (hearing, sight, smell, taste, and touch). The spinal cord is made up of bundles of nerve fibers that connect the brain with nerves in most parts of the body.    Ependymomas form from ependymal cells that line the ventricles and passageways in the brain and the spinal cord. Ependymal cells make cerebrospinal fluid (CSF).    This summary is about the treatment of primary brain tumors (tumors that begin in the brain). Treatment of metastatic brain tumors, which are tumors that begin in other parts of the body and spread to the brain, is not discussed in this summary.    There are many different types of brain tumors. Brain tumors can occur in both children and adults. However, treatment for children is different than treatment for adults. See the following PDQ summaries for more information:         -  Childhood Brain and Spinal Cord Tumors Treatment Overview     -  Adult Central Nervous System Tumors Treatment

                    There are different types of ependymomas.
                    The World Health Organization (WHO) groups ependymal tumors into five main subtypes:         - Subependymoma (WHO Grade I).    - Myxopapillary ependymoma (WHO Grade I).    - Ependymoma (WHO Grade II).    -  RELA fusionpositive ependymoma (WHO Grade II or Grade III with change in the RELA gene).    - Anaplastic ependymoma (WHO Grade III).        The grade of a tumor describes how abnormal the cancer cells look under a microscope and how quickly the tumor is likely to grow and spread. Low-grade (Grade I) cancer cells look more like normal cells than high-grade cancer cells (Grade II and III). They also tend to grow and spread more slowly than Grade II and III cancer cells.

                    The part of the brain that is affected depends on where the ependymoma forms.
                    Ependymomas can form anywhere in the fluid -filled ventricles and passageways in the brain and spinal cord. Most ependymomas form in the fourth ventricle and affect the cerebellum and the brain stem.      Once an ependymoma forms, areas of the brain that may be affected include:          -  Cerebrum: The largest part of the brain, at the top of the head. The cerebrum controls thinking, learning, problem-solving, speech, emotions, reading, writing, and voluntary movement.     -  Cerebellum: The lower, back part of the brain (near the middle of the back of the head). The cerebellum controls movement, balance, and posture.     -  Brain stem: The part that connects the brain to the spinal cord, in the lowest part of the brain (just above the back of the neck). The brain stem controls breathing, heart rate, and the nerves and muscles used in seeing, hearing, walking, talking, and eating.    -  Spinal cord: The column of nerve tissue that runs from the brain stem down the center of the back. It is covered by three thin layers of tissue called membranes. The spinal cord and membranes are surrounded by the vertebrae (back bones). Spinal cord nerves carry messages between the brain and the rest of the body, such as a message from the brain to cause muscles to move or a message from the skin to the brain to feel touch.


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[User] What are the genetic changes related to hereditary antithrombin deficiency ?

[Assistant] Hereditary antithrombin deficiency is caused by mutations in the SERPINC1 gene. This gene provides instructions for producing a protein called antithrombin (previously known as antithrombin III). This protein is found in the bloodstream and is important for controlling blood clotting. Antithrombin blocks the activity of proteins that promote blood clotting, especially a protein called thrombin.  Most of the mutations that cause hereditary antithrombin deficiency change single protein building blocks (amino acids) in antithrombin, which disrupts its ability to control blood clotting. Individuals with this condition do not have enough functional antithrombin to inactivate clotting proteins, which results in the increased risk of developing abnormal blood clots.


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[User] What are the treatments for inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ?

[Assistant] These resources address the diagnosis or management of IBMPFD:  - Gene Review: Gene Review: Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia  - Genetic Testing Registry: Inclusion body myopathy with early-onset paget disease and 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 symptoms of Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction ?

[Assistant] What are the signs and symptoms of Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction? The Human Phenotype Ontology provides the following list of signs and symptoms for Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction. 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) Anal atresia - Autoimmune thrombocytopenia - Autosomal recessive inheritance - Cervical ribs - Hypertrophy of the urinary bladder - Omphalocele - Preaxial hand polydactyly - Prune belly - Renal dysplasia - Renal hypoplasia - Sprengel anomaly - Talipes equinovarus - Thoracolumbar scoliosis - Urethral obstruction - 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 to diagnose AIDS-Related Lymphoma ?

[Assistant] Tests that examine the lymph system and other parts of the body are used to help detect (find) and diagnose AIDS-related lymphoma. The following tests and procedures may be used:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken.    -   Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following:               - The number of red blood cells, white blood cells, and platelets.      - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells.      - The portion of the sample made up of red blood cells.             -   HIV test : A test to measure the level of HIV antibodies in a sample of blood. Antibodies are made by the body when it is invaded by a foreign substance. A high level of HIV antibodies may mean the body has been infected with HIV.    -   Lymph node biopsy : The removal of all or part of a lymph node. A pathologist views the tissue under a microscope to look for cancer cells. One of the following types of biopsies may be done:                -  Excisional biopsy : The removal of an entire lymph node.       -   Incisional biopsy : The removal of part of a lymph node.      -  Core biopsy : The removal of tissue from a lymph node using a wide needle.      -  Fine-needle aspiration (FNA) biopsy : The removal of tissue from a lymph node using a thin needle.             -   Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow and bone under a microscope to look for signs of cancer.    -   Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body.


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[User] What are the symptoms of Cat scratch disease ?

[Assistant] What are the symptoms of cat scratch disease? Most people with cat scratch disease have been bitten or scratched by a cat and developed a mild infection at the point of injury. Lymph nodes, especially those around the head, neck, and upper limbs, become swollen. Additionally, a person with cat scratch disease may experience fever, headache, fatigue, achiness and discomfort (malaise), sore throat, enlarged spleen, and/or loss of appetite.


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[User] what research (or clinical trials) is being done for Problems with Smell ?

[Assistant] The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. These chemosensory scientists are exploring how to - promote the regeneration of sensory nerve cells   - understand the effects of the environment (such as gasoline fumes, chemicals, and extremes of humidity and temperature) on smell and taste  - prevent the effects of aging on smell and taste   - develop new diagnostic tests for taste and smell disorders   - understand associations between smell disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses.  promote the regeneration of sensory nerve cells understand the effects of the environment (such as gasoline fumes, chemicals, and extremes of humidity and temperature) on smell and taste prevent the effects of aging on smell and taste develop new diagnostic tests for taste and smell disorders understand associations between smell disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses.


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[User] What are the treatments for Mitochondrial complex II deficiency ?

[Assistant] How might mitochondrial complex II deficiency be treated? Treatment options for complex II deficiency may be similar to those for other mitochondrial disorders in general.[8677] The United Mitochondrial Disease Foundation (UMDF) provides detailed information on treatment through their Web site at: http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934635 We strongly recommend that you discuss this information with a healthcare provider.


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[User] What are the genetic changes related to mucolipidosis type IV ?

[Assistant] Mutations in the MCOLN1 gene cause mucolipidosis type IV. This gene provides instructions for making a protein called mucolipin-1. This protein is located in the membranes of lysosomes and endosomes, compartments within the cell that digest and recycle materials. While its function is not completely understood, mucolipin-1 plays a role in the transport (trafficking) of fats (lipids) and proteins between lysosomes and endosomes. Mucolipin-1 appears to be important for the development and maintenance of the brain and retina. In addition, this protein is likely critical for normal functioning of the cells in the stomach that produce digestive acids.  Most mutations in the MCOLN1 gene result in the production of a nonfunctional protein or prevent any protein from being produced. A lack of functional mucolipin-1 impairs transport of lipids and proteins, causing these substances to build up inside lysosomes. Conditions that cause molecules to accumulate inside the lysosomes, including mucolipidosis type IV, are called lysosomal storage disorders. Two mutations in the MCOLN1 gene account for almost all cases of mucolipidosis type IV in people with Ashkenazi Jewish ancestry. It remains unclear how mutations in this gene lead to the signs and symptoms of mucolipidosis type IV.


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

[Assistant] The NINDS supports research on neuromuscular disorders, such as hereditary neuropathies, aimed at learning more about these disorders and finding ways to prevent and treat them.


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[User] What is (are) Tourette Syndrome ?

[Assistant] If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat-clearing and blinking. You may repeat words, spin, or, rarely, blurt out swear words.     Tourette syndrome is a disorder of the nervous system. It often occurs with other problems, such as       -  Attention deficit hyperactivity disorder  (ADHD)    -  Obsessive-compulsive disorder (OCD)    -  Anxiety    -  Depression       The cause of Tourette syndrome is unknown. It is more common in boys than girls. The tics usually start in childhood and may be worst in the early teens. Many people eventually outgrow them.     No treatment is needed unless the tics interfere with everyday life. Excitement or worry can make tics worse. Calm, focused activities may make them better. Medicines and talk therapy may also help.    NIH: National Institute of Neurological Disorders and Stroke


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[User] What is (are) Moebius syndrome ?

[Assistant] Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth.  Weakness or paralysis of the facial muscles is one of the most common features of Moebius syndrome. Affected individuals lack facial expressions; they cannot smile, frown, or raise their eyebrows. The muscle weakness also causes problems with feeding that become apparent in early infancy.  Many people with Moebius syndrome are born with a small chin (micrognathia) and a small mouth (microstomia) with a short or unusually shaped tongue. The roof of the mouth may have an abnormal opening (cleft palate) or be high and arched. These abnormalities contribute to problems with speech, which occur in many children with Moebius syndrome. Dental abnormalities, including missing and misaligned teeth, are also common.  Moebius syndrome also affects muscles that control back-and-forth eye movement. Affected individuals must move their head from side to side to read or follow the movement of objects. People with this disorder have difficulty making eye contact, and their eyes may not look in the same direction (strabismus). Additionally, the eyelids may not close completely when blinking or sleeping, which can result in dry or irritated eyes.  Other features of Moebius syndrome can include bone abnormalities in the hands and feet, weak muscle tone (hypotonia), and hearing loss. Affected children often experience delayed development of motor skills (such as crawling and walking), although most eventually acquire these skills.  Some research studies have suggested that children with Moebius syndrome are more likely than unaffected children to have characteristics of autism spectrum disorders, which are a group of conditions characterized by impaired communication and social interaction. However, recent studies have questioned this association. Because people with Moebius syndrome have difficulty with eye contact and speech due to their physical differences, autism spectrum disorders can be difficult to diagnose in these individuals. Moebius syndrome may also be associated with a somewhat increased risk of intellectual disability; however, most affected individuals have normal intelligence.


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[User] What are the treatments for Parasites - American Trypanosomiasis (also known as Chagas Disease) ?

[Assistant]
Treatment for Chagas disease is recommended for all people diagnosed with an acute infection, congenital infection, and for those with suppressed immune systems, and for all children with chronic infection. Adults with chronic infection may also benefit from treatment.

For cardiac or gastrointestinal problems resulting from Chagas disease, symptomatic treatment may be helpful. Patients should consult with their primary health care provider. Some patients may be referred to a specialist, such as a cardiologist, gastroenterologist, or infectious disease specialist.

In the U.S., medication for Chagas is available only through CDC. Your health care provider can talk with CDC staff about whether and how you should be treated.

More on: Resources for Health Professionals: Antiparasitic Treatment


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[User] What are the symptoms of Parkinson disease type 9 ?

[Assistant] What are the signs and symptoms of Parkinson disease type 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Parkinson disease type 9. 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) Distal sensory impairment 5% Seizures 5% Aggressive behavior - Akinesia - Anarthria - Anosmia - Autosomal recessive inheritance - Babinski sign - Dementia - Hallucinations - Hyperreflexia - Hypokinesia - Hyposmia - Mask-like facies - Myoclonus - Paraparesis - Parkinsonism - Parkinsonism with favorable response to dopaminergic medication - Postural instability - Psychotic episodes - Rapidly progressive - Rigidity - Slow saccadic eye movements - Spasticity - Supranuclear gaze palsy - Torticollis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] Is Moebius syndrome inherited ?

[Assistant] Is Moebius syndrome inherited? Most cases of Moebius syndrome are not inherited and occur as isolated cases in individuals with no history of the condition in their family (sporadically). A small percentage of cases of Moebius syndrome have been familial (occurring in more than one individual in a family), but there has not been a consistent pattern of inheritance among all affected families. In some families the pattern has been suggestive of autosomal dominant inheritance, while in other families it has been suggestive of autosomal recessive or X-linked recessive inheritance.


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[User] What causes Causes of Diabetes ?

[Assistant]
Type 2 diabetesthe most common form of diabetesis caused by a combination of factors, including insulin resistance, a condition in which the bodys muscle, fat, and liver cells do not use insulin effectively. Type 2 diabetes develops when the body can no longer produce enough insulin to compensate for the impaired ability to use insulin. Symptoms of type 2 diabetes may develop gradually and can be subtle; some people with type 2 diabetes remain undiagnosed for years.

Type 2 diabetes develops most often in middle-aged and older people who are also overweight or obese. The disease, once rare in youth, is becoming more common in overweight and obese children and adolescents. Scientists think genetic susceptibility and environmental factors are the most likely triggers of type 2 diabetes.

Genetic Susceptibility

Genes play a significant part in susceptibility to type 2 diabetes. Having certain genes or combinations of genes may increase or decrease a persons risk for developing the disease. The role of genes is suggested by the high rate of type 2 diabetes in families and identical twins and wide variations in diabetes prevalence by ethnicity. Type 2 diabetes occurs more frequently in African Americans, Alaska Natives, American Indians, Hispanics/Latinos, and some Asian Americans, Native Hawaiians, and Pacific Islander Americans than it does in non-Hispanic whites.

Recent studies have combined genetic data from large numbers of people, accelerating the pace of gene discovery. Though scientists have now identified many gene variants that increase susceptibility to type 2 diabetes, the majority have yet to be discovered. The known genes appear to affect insulin production rather than insulin resistance. Researchers are working to identify additional gene variants and to learn how they interact with one another and with environmental factors to cause diabetes.

Studies have shown that variants of the TCF7L2 gene increase susceptibility to type 2 diabetes. For people who inherit two copies of the variants, the risk of developing type 2 diabetes is about 80 percent higher than for those who do not carry the gene variant.1 However, even in those with the variant, diet and physical activity leading to weight loss help delay diabetes, according to the Diabetes Prevention Program (DPP), a major clinical trial involving people at high risk.

Genes can also increase the risk of diabetes by increasing a persons tendency to become overweight or obese. One theory, known as the thrifty gene hypothesis, suggests certain genes increase the efficiency of metabolism to extract energy from food and store the energy for later use. This survival trait was advantageous for populations whose food supplies were scarce or unpredictable and could help keep people alive during famine. In modern times, however, when high-calorie foods are plentiful, such a trait can promote obesity and type 2 diabetes.

Obesity and Physical Inactivity

Physical inactivity and obesity are strongly associated with the development of type 2 diabetes. People who are genetically susceptible to type 2 diabetes are more vulnerable when these risk factors are present.

An imbalance between caloric intake and physical activity can lead to obesity, which causes insulin resistance and is common in people with type 2 diabetes. Central obesity, in which a person has excess abdominal fat, is a major risk factor not only for insulin resistance and type 2 diabetes but also for heart and blood vessel disease, also called cardiovascular disease (CVD). This excess belly fat produces hormones and other substances that can cause harmful, chronic effects in the body such as damage to blood vessels.

The DPP and other studies show that millions of people can lower their risk for type 2 diabetes by making lifestyle changes and losing weight. The DPP proved that people with prediabetesat high risk of developing type 2 diabetescould sharply lower their risk by losing weight through regular physical activity and a diet low in fat and calories. In 2009, a follow-up study of DPP participantsthe Diabetes Prevention Program Outcomes Study (DPPOS)showed that the benefits of weight loss lasted for at least 10 years after the original study began.2

Read more about the DPP, funded under National Institutes of Health (NIH) clinical trial number NCT00004992, and the DPPOS, funded under NIH clinical trial number NCT00038727 in  Diabetes Prevention Program.

Insulin Resistance

Insulin resistance is a common condition in people who are overweight or obese, have excess abdominal fat, and are not physically active. Muscle, fat, and liver cells stop responding properly to insulin, forcing the pancreas to compensate by producing extra insulin. As long as beta cells are able to produce enough insulin, blood glucose levels stay in the normal range. But when insulin production falters because of beta cell dysfunction, glucose levels rise, leading to prediabetes or diabetes.

Abnormal Glucose Production by the Liver

In some people with diabetes, an abnormal increase in glucose production by the liver also contributes to high blood glucose levels. Normally, the pancreas releases the hormone glucagon when blood glucose and insulin levels are low. Glucagon stimulates the liver to produce glucose and release it into the bloodstream. But when blood glucose and insulin levels are high after a meal, glucagon levels drop, and the liver stores excess glucose for later, when it is needed. For reasons not completely understood, in many people with diabetes, glucagon levels stay higher than needed. High glucagon levels cause the liver to produce unneeded glucose, which contributes to high blood glucose levels. Metformin, the most commonly used drug to treat type 2 diabetes, reduces glucose production by the liver.

The Roles of Insulin and Glucagon in Normal Blood Glucose Regulation

A healthy persons body keeps blood glucose levels in a normal range through several complex mechanisms. Insulin and glucagon, two hormones made in the pancreas, help regulate blood glucose levels:

- Insulin, made by beta cells, lowers elevated blood glucose levels.  - Glucagon, made by alpha cells, raises low blood glucose levels.

- Insulin helps muscle, fat, and liver cells absorb glucose from the bloodstream, lowering blood glucose levels.  - Insulin stimulates the liver and muscle tissue to store excess glucose. The stored form of glucose is called glycogen.  - Insulin also lowers blood glucose levels by reducing glucose production in the liver.

- Glucagon signals the liver and muscle tissue to break down glycogen into glucose, which enters the bloodstream and raises blood glucose levels.  - If the body needs more glucose, glucagon stimulates the liver to make glucose from amino acids.

Metabolic Syndrome

Metabolic syndrome, also called insulin resistance syndrome, refers to a group of conditions common in people with insulin resistance, including

- higher than normal blood glucose levels  - increased waist size due to excess abdominal fat  - high blood pressure  - abnormal levels of cholesterol and triglycerides in the blood

Cell Signaling and Regulation

Cells communicate through a complex network of molecular signaling pathways. For example, on cell surfaces, insulin receptor molecules capture, or bind, insulin molecules circulating in the bloodstream. This interaction between insulin and its receptor prompts the biochemical signals that enable the cells to absorb glucose from the blood and use it for energy.

Problems in cell signaling systems can set off a chain reaction that leads to diabetes or other diseases. Many studies have focused on how insulin signals cells to communicate and regulate action. Researchers have identified proteins and pathways that transmit the insulin signal and have mapped interactions between insulin and body tissues, including the way insulin helps the liver control blood glucose levels. Researchers have also found that key signals also come from fat cells, which produce substances that cause inflammation and insulin resistance.

This work holds the key to combating insulin resistance and diabetes. As scientists learn more about cell signaling systems involved in glucose regulation, they will have more opportunities to develop effective treatments.

Beta Cell Dysfunction

Scientists think beta cell dysfunction is a key contributor to type 2 diabetes. Beta cell impairment can cause inadequate or abnormal patterns of insulin release. Also, beta cells may be damaged by high blood glucose itself, a condition called glucose toxicity.

Scientists have not determined the causes of beta cell dysfunction in most cases. Single gene defects lead to specific forms of diabetes called maturity-onset diabetes of the young (MODY). The genes involved regulate insulin production in the beta cells. Although these forms of diabetes are rare, they provide clues as to how beta cell function may be affected by key regulatory factors. Other gene variants are involved in determining the number and function of beta cells. But these variants account for only a small percentage of type 2 diabetes cases. Malnutrition early in life is also being investigated as a cause of beta cell dysfunction. The metabolic environment of the developing fetus may also create a predisposition for diabetes later in life.

Risk Factors for Type 2 Diabetes

People who develop type 2 diabetes are more likely to have the following characteristics:

- age 45 or older  - overweight or obese  - physically inactive  - parent or sibling with diabetes  - family background that is African American, Alaska Native, American Indian, Asian American, Hispanic/Latino, or Pacific Islander American  - history of giving birth to a baby weighing more than 9 pounds  - history of gestational diabetes  - high blood pressure140/90 or aboveor being treated for high blood pressure  - high-density lipoprotein (HDL), or good, cholesterol below 35 milligrams per deciliter (mg/dL), or a triglyceride level above 250 mg/dL  - polycystic ovary syndrome, also called PCOS  - prediabetesan A1C level of 5.7 to 6.4 percent; a fasting plasma glucose test result of 100125 mg/dL, called impaired fasting glucose; or a 2-hour oral glucose tolerance test result of 140199, called impaired glucose tolerance  - acanthosis nigricans, a condition associated with insulin resistance, characterized by a dark, velvety rash around the neck or armpits  - history of CVD

The American Diabetes Association (ADA) recommends that testing to detect prediabetes and type 2 diabetes be considered in adults who are overweight or obese and have one or more additional risk factors for diabetes. In adults without these risk factors, testing should begin at age 45.


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[User] What to do for What I need to know about Lactose Intolerance ?

[Assistant]
Talk with your doctor about your dietary plan. A dietary plan can help you manage the symptoms of lactose intolerance and get enough nutrients. If you have a child with lactose intolerance, follow the diet plan that your childs doctor recommends.

Milk and milk products. You may be able to have milk and milk products without symptoms if you

- drink small amounts of milkhalf a cup or lessat a time  - drink small amounts of milk with meals, such as having milk with cereal or having cheese with crackers  - add small amounts of milk and milk products to your diet a little at a time and see how you feel  - eat milk products that are easier for people with lactose intolerance to break down:      - yogurt    - hard cheeses such as cheddar and Swiss

Lactose-free and lactose-reduced milk and milk products. You can find lactose-free and lactose-reduced milk and milk products at the grocery store. These products are just as healthy for you as regular milk and milk products.

Lactase products. You can use lactase tablets and drops when you have milk and milk products. The lactase enzyme breaks down the lactose in food. Using lactase tablets or drops can help you prevent symptoms of lactose intolerance. Check with your doctor before using these products. Some people, such as young children and pregnant and breastfeeding women, may not be able to use these products.

Calcium and Vitamin D   If you are lactose intolerant, make sure you get enough calcium each day. Milk and milk products are the most common sources of calcium. Other foods that contain calcium include   - fish with soft bones, such as canned salmon or sardines   - broccoli and other leafy green vegetables   - oranges   - almonds, Brazil nuts, and dried beans   - tofu   - products with the label showing added calcium, such as cereals, fruit juices, and soy milk    Vitamin D helps the body absorb and use calcium. Be sure to eat foods that contain vitamin D, such as eggs, liver, and certain kinds of fish, such as salmon. Also, being outside in the sunlight helps your body make vitamin D. Some companies add vitamin D to milk and milk products. If you are able to drink small amounts of milk or eat yogurt, choose those that have vitamin D added.   Talk with your doctor about how to get enough nutrientsincluding calcium and vitamin Din your diet or your childs diet. Ask if you should also take a supplement to get enough calcium and vitamin D.   For safety reasons, talk with your doctor before using dietary supplements or any other nonmainstream medicine together with or in place of the treatment your doctor prescribes. Read more at www.ods.od.nih.gov and www.nccam.nih.gov.


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[User] What are the treatments for Breast Cancer ?

[Assistant] Radiation therapy uses high-energy x-rays or other types of radiation to kill cancer cells and shrink tumors. This therapy often follows a lumpectomy, and is sometimes used after mastectomy. During radiation therapy, a machine outside the body sends high-energy beams to kill the cancer cells that may still be present in the affected breast or in nearby lymph nodes. Doctors sometimes use radiation therapy along with chemotherapy, or before or instead of surgery.


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[User] What are the treatments for Human T-cell leukemia virus type 1 ?

[Assistant] How might human T-cell leukemia virus, type 1 be treated?  No cure or treatment exists for human T-cell leukemia virus, type 1 (HTLV-1). Management is focused on early detection and preventing the spread of HTLV-1 to others. Screening blood doners, promoting safe sex and discouraging needle sharing can decrease the number of new infections. Mother-to-child transmission can be reduced by screening pregnant women so infected mothers can avoid breastfeeding.


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[User] Is Chediak-Higashi syndrome inherited ?

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