sarnsrun/medquad huggingface dataset:
Topic: Sickle Cell Disease
Question: What causes Sickle Cell Disease ?
Answer: Abnormal hemoglobin, called hemoglobin S, causes sickle cell disease (SCD).
                
The problem in hemoglobin S is caused by a small defect in the gene that directs the production of the beta globin part of hemoglobin. This small defect in the beta globin gene causes a problem in the beta globin part of hemoglobin, changing the way that hemoglobin works. (See Overview.)
                

                
How Is Sickle Cell Disease Inherited?
                
When the hemoglobin S gene is inherited from only one parent and a normal hemoglobin gene is inherited from the other, a person will have sickle cell trait. People with sickle cell trait are generally healthy.
                
Only rarely do people with sickle cell trait have complications similar to those seen in people with SCD. But people with sickle cell trait are carriers of a defective hemoglobin S gene. So, they can pass it on when they have a child.
                
If the childs other parent also has sickle cell trait or another abnormal hemoglobin gene (like thalassemia, hemoglobin C, hemoglobin D, hemoglobin E), that child has a chance of having SCD.
                
Example of an Inheritance Pattern
                

                
In the image above, each parent has one hemoglobin A gene and one hemoglobin S gene, and each of their children has:
                
A 25 percent chance of inheriting two normal genes: In this case the child does not have sickle cell trait or disease. (Case 1)
                
A 50 percent chance of inheriting one hemoglobin A gene and one hemoglobin S gene: This child has sickle cell trait. (Cases 2 and 3)
                
A 25 percent chance of inheriting two hemoglobin S genes: This child has sickle cell disease. (Case 4)
                
It is important to keep in mind that each time this couple has a child, the chances of that child having sickle cell disease remain the same. In other words, if the first-born child has sickle cell disease, there is still a 25 percent chance that the second child will also have the disease. Both boys and girls can inherit sickle cell trait, sickle cell disease, or normal hemoglobin.
                
If a person wants to know if he or she carries a sickle hemoglobin gene, a doctor can order a blood test to find out.
Source: NHLBI
Topic: Sickle Cell Disease
Question: Who is at risk for Sickle Cell Disease? ?
Answer: In the United States, most people with sickle cell disease (SCD) are of African ancestry or identify themselves as black.
                
About 1 in 13 African American babies is born with sickle cell trait.
                
About 1 in every 365 black children is born with sickle cell disease.
                
There are also many people with this disease who come from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds.
                
Approximately 100,000 Americans have SCD.
Source: NHLBI
Topic: Sickle Cell Disease
Question: How to diagnose Sickle Cell Disease ?
Answer: Screening Tests
                
People who do not know whether they make sickle hemoglobin (hemoglobin S) or another abnormal hemoglobin (such as C,  thalassemia, E) can find out by having their blood tested. This way, they can learn whether they carry a gene (i.e., have the trait) for an abnormal hemoglobin that they could pass on to a child.
                
When each parent has this information, he or she can be better informed about the chances of having a child with some type of sickle cell disease (SCD), such as hemoglobin SS, SC, S thalassemia, or others.
                
Newborn Screening
                
When a child has SCD, it is very important to diagnose it early to better prevent complications.
                
Every state in the United States, the District of Columbia, and the U.S. territories require that every baby is tested for SCD as part of a newborn screening program.
                
In newborn screening programs, blood from a heel prick is collected in spots on a special paper. The hemoglobin from this blood is then analyzed in special labs.
                
Newborn screening results are sent to the doctor who ordered the test and to the childs primary doctor.
                
If a baby is found to have SCD, health providers from a special follow-up newborn screening group contact the family directly to make sure that the parents know the results. The child is always retested to be sure that the diagnosis is correct.
                
Newborn screening programs also find out whether the baby has an abnormal hemoglobin trait. If so, parents are informed, and counseling is offered.
                
Remember that when a child has sickle cell trait or SCD, a future sibling, or the childs own future child, may be at risk. These possibilities should be discussed with the primary care doctor, a blood specialist called a hematologist, and/or a genetics counselor.
                
Prenatal Screening
                
Doctors can also diagnose SCD before a baby is born. This is done using a sample of amniotic fluid, the liquid in the sac surrounding a growing embryo, or tissue taken from the placenta, the organ that attaches the umbilical cord to the mothers womb.
                
Testing before birth can be done as early as 810 weeks into the pregnancy. This testing looks for the sickle hemoglobin gene rather than the abnormal hemoglobin.
Source: NHLBI
Topic: Sickle Cell Disease
Question: How to prevent Sickle Cell Disease ?
Answer: People who do not know whether they carry an abnormal hemoglobin gene can ask their doctor to have their blood tested.
                
Couples who are planning to have children and know that they are at risk of having a child with sickle cell disease (SCD) may want to meet with a genetics counselor. A genetics counselor can answer questions about the risk and explain the choices that are available.
Source: NHLBI
Topic: Alpha-1 Antitrypsin Deficiency
Question: What is (are) Alpha-1 Antitrypsin Deficiency ?
Answer: Alpha-1 antitrypsin (an-tee-TRIP-sin) deficiency, or AAT deficiency, is a condition that raises your risk for lung disease (especially if you smoke) and other diseases.
                
Some people who have severe AAT deficiency develop emphysema (em-fi-SE-ma)often when they're only in their forties or fifties. Emphysema is a serious lung disease in which damage to the airways makes it hard to breathe.
                
A small number of people who have AAT deficiency develop cirrhosis (sir-RO-sis) and other serious liver diseases.
                
Cirrhosis is a disease in which the liver becomes scarred. The scarring prevents the organ from working well. In people who have AAT deficiency, cirrhosis and other liver diseases usually occur in infancy and early childhood.
                
A very small number of people who have AAT deficiency have a rare skin disease called necrotizing panniculitis (pa-NIK-yu-LI-tis). This disease can cause painful lumps under or on the surface of the skin.
                
This article focuses on AAT deficiency as it relates to lung disease.
                
Overview
                
Alpha-1 antitrypsin, also called AAT, is a protein made in the liver. Normally, the protein travels through the bloodstream. It helps protect the body's organs from the harmful effects of other proteins. The lungs are one of the main organs that the AAT protein protects.
                
AAT deficiency occurs if the AAT proteins made in the liver aren't the right shape. They get stuck inside liver cells and can't get into the bloodstream.
                
As a result, not enough AAT proteins travel to the lungs to protect them. This increases the risk of lung disease. Also, because too many AAT proteins are stuck in the liver, liver disease can develop.
                
Severe AAT deficiency occurs if blood levels of the AAT protein fall below the lowest amount needed to protect the lungs.
                
AAT deficiency is an inherited condition. "Inherited" means it's passed from parents to children through genes.
                
Doctors don't know how many people have AAT deficiency. Many people who have the condition may not know they have it. Estimates of how many people have AAT deficiency range from about 1 in every 1,600 people to about 1 in every 5,000 people.
                
Outlook
                
People who have AAT deficiency may not have serious complications, and they may live close to a normal lifespan.
                
Among people with AAT deficiency who have a related lung or liver disease, about 3percent die each year.
                
Smoking is the leading risk factor for life-threatening lung disease if you have AAT deficiency. Smoking or exposure to tobacco smoke increases the risk of earlier lung-related symptoms and lung damage. If you have severe AAT deficiency, smoking can shorten your life by as much as 20 years.
                
AAT deficiency has no cure, but treatments are available. Treatments often are based on the type of disease you develop.
Source: NHLBI
Topic: Alpha-1 Antitrypsin Deficiency
Question: What causes Alpha-1 Antitrypsin Deficiency ?
Answer: Alpha-1 antitrypsin (AAT) deficiency is an inherited disease. "Inherited" means it's passed from parents to children through genes.
                
Children who have AAT deficiency inherit two faulty AAT genes, one from each parent. These genes tell cells in the body how to make AAT proteins.
                
In AAT deficiency, the AAT proteins made in the liver aren't the right shape. Thus, they get stuck in the liver cells. The proteins can't get to the organs in the body that they protect, such as the lungs. Without the AAT proteins protecting the organs, diseases can develop.
                
The most common faulty gene that can cause AAT deficiency is called PiZ. If you inherit two PiZ genes (one from each parent), you'll have AAT deficiency.
                
If you inherit a PiZ gene from one parent and a normal AAT gene from the other parent, you won't have AAT deficiency. However, you might pass the PiZ gene to your children.
                
Even if you inherit two faulty AAT genes, you may not have any related complications. You may never even realize that you have AAT deficiency.
Source: NHLBI
Topic: Alpha-1 Antitrypsin Deficiency
Question: Who is at risk for Alpha-1 Antitrypsin Deficiency? ?
Answer: Alpha-1 antitrypsin (AAT) deficiency occurs in all ethnic groups. However, the condition occurs most often in White people of European descent.
                
AAT deficiency is an inherited condition. "Inherited" means the condition is passed from parents to children through genes.
                
If you have bloodline relatives with known AAT deficiency, you're at increased risk for the condition. Even so, it doesn't mean that you'll develop one of the diseases related to the condition.
                
Some risk factors make it more likely that you'll develop lung disease if you have AAT deficiency. Smoking is the leading risk factor for serious lung disease if you have AAT deficiency. Your risk for lung disease also may go up if you're exposed to dust, fumes, or other toxic substances.
Source: NHLBI
Topic: Alpha-1 Antitrypsin Deficiency
Question: What are the symptoms of Alpha-1 Antitrypsin Deficiency ?
Answer: The first lung-related symptoms of alpha-1 antitrypsin (AAT) deficiency may include shortness of breath, less ability to be physically active, and wheezing. These signs and symptoms most often begin between the ages of 20 and 40.
                
Other signs and symptoms may include repeated lung infections, tiredness, a rapid heartbeat upon standing, vision problems, and weight loss.
                
Some people who have severe AAT deficiency develop emphysema (em-fi-SE-ma)often when they're only in their forties or fifties. Signs and symptoms of emphysema include problems breathing, wheezing, and a chronic (ongoing) cough.
                
At first, many people who have AAT deficiency are diagnosed with asthma. This is because wheezing also is a symptom of asthma. Also, people who have AAT deficiency respond well to asthma medicines.
Source: NHLBI
Topic: Alpha-1 Antitrypsin Deficiency
Question: How to diagnose Alpha-1 Antitrypsin Deficiency ?
Answer: Alpha-1 antitrypsin (AAT) deficiency usually is diagnosed after you develop a lung or liver disease that's related to the condition.
                
Your doctor may suspect AAT deficiency if you have signs or symptoms of a serious lung condition, especially emphysema, without any obvious cause. He or she also may suspect AAT deficiency if you develop emphysema when you're 45 years old or younger.
                
Specialists Involved
                
Many doctors may be involved in the diagnosis of AAT deficiency. These include primary care doctors, pulmonologists (lung specialists), and hepatologists (liver specialists).
                
To diagnose AAT deficiency, your doctor will:
                
Ask about possible risk factors. Risk factors include smoking and exposure to dust, fumes, and other toxic substances.
                
Ask about your medical history. A common sign of AAT deficiency is if you have a lung or liver disease without any obvious causes or risk factors. Another sign is if you have emphysema at an unusually early age (45 years or younger).
                
Ask about your family's medical history. If you have bloodline relatives who have AAT deficiency, you're more likely to have the condition.
                
Diagnostic Tests
                
Your doctor may recommend tests to confirm a diagnosis of AAT deficiency. He or she also may recommend tests to check for lung- or liver-related conditions.
                
A genetic test is the most certain way to check for AAT deficiency. This test will show whether you have faulty AAT genes.
                
A blood test also may be used. This test checks the level of AAT protein in your blood. If the level is a lot lower than normal, it's likely that you have AAT deficiency.
                
Lung-Related Tests
                
If you have a lung disease related to AAT deficiency, your doctor may recommend lung function tests and high-resolution computed tomography (to-MOG-rah-fee) scanning, also called CT scanning.
                
Lung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. These tests may show how severe your lung disease is and how well treatment is working.
                
High-resolution CT scanning uses x rays to create detailed pictures of parts of the body. A CT scan can show whether you have emphysema or another lung disease and how severe it is.
Source: NHLBI
Topic: Alpha-1 Antitrypsin Deficiency
Question: What are the treatments for Alpha-1 Antitrypsin Deficiency ?
Answer: Alpha-1 antitrypsin (AAT) deficiency has no cure, but its related lung diseases have many treatments. Most of these treatments are the same as the ones used for a lung disease called COPD (chronic obstructive pulmonary disease).
                
If you have symptoms related to AAT deficiency, your doctor may recommend:
                
Medicines called inhaled bronchodilators (brong-ko-di-LA-tors) and inhaled steroids. These medicines help open your airways and make breathing easier. They also are used to treat asthma and COPD.
                
Flu and pneumococcal (noo-mo-KOK-al) vaccines to protect you from illnesses that could make your condition worse. Prompt treatment of lung infections also can help protect your lungs.
                
Pulmonary rehabilitation (rehab). Rehab involves treatment by a team of experts at a special clinic. In rehab, you'll learn how to manage your condition and function at your best.
                
Extra oxygen, if needed.
                
A lung transplant. A lung transplant may be an option if you have severe breathing problems. If you have a good chance of surviving the transplant surgery, you may be a candidate for it.
                
Augmentation (og-men-TA-shun) therapy is a treatment used only for people who have AAT-related lung diseases. This therapy involves getting infusions of the AAT protein. The infusions raise the level of the protein in your blood and lungs.
                
Not enough research has been done to show how well this therapy works. However, some research suggests that this therapy may slow the development of AAT deficiency in people who don't have severe disease.
                
People who have AAT deficiency and develop related liver or skin diseases will be referred to doctors who treat those diseases.
                
Future Treatments
                
Researchers are working on possible treatments that will target the faulty AAT genes and replace them with healthy genes. These treatments are in the early stages of development.
                
Researchers also are studying therapies that will help misshapen AAT proteins move from the liver into the bloodstream. They're also studying a type of augmentation therapy in which the AAT protein is inhaled instead of injected into a vein.
                
If you're interested in new treatments, ask your doctor about ongoing clinical trials for AAT deficiency.
Source: NHLBI
Topic: Alpha-1 Antitrypsin Deficiency
Question: How to prevent Alpha-1 Antitrypsin Deficiency ?
Answer: You can't prevent alpha-1 antitrypsin (AAT) deficiency because the condition is inherited (passed from parents to children through genes).
                
If you inherit two faulty AAT genes, you'll have AAT deficiency. Even so, you may never develop one of the diseases related to the condition.
                
You can take steps to prevent or delay lung diseases related to AAT deficiency. One important step is to quit smoking. If you don't smoke, don't start.
                
Talk with your doctor about programs and products that can help you quit smoking. If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking.
                
For more information about how to quit smoking, go to the Health Topics Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's "Your Guide to a Healthy Heart." Although these resources focus on heart health, they include basic information about how to quit smoking.
                
Also, try to avoid secondhand smoke and places with dust, fumes, or other toxic substances that you may inhale.
                
Check your living and working spaces for things that may irritate your lungs. Examples include flower and tree pollen, ash, allergens, air pollution, wood burning stoves, paint fumes, and fumes from cleaning products and other household items.
                
If you have a lung disease related to AAT deficiency, ask your doctor whether you might benefit from augmentation therapy. This is a treatment in which you receive infusions of AAT protein.
                
Augmentation therapy raises the level of AAT protein in your blood and lungs. (For more information, go to "How Is Alpha-1 Antitrypsin Deficiency Treated?")
Source: NHLBI
Topic: Primary Ciliary Dyskinesia
Question: What causes Primary Ciliary Dyskinesia ?
Answer: Primary ciliary dyskinesia (PCD) is a rare, inherited disease. "Inherited" means the disease is passed from parents to children through genes. With PCD, this process is very complex. Researchers are still learning how the disease is inherited and which genes are involved.
                
Generally, a child must inherit faulty genes from both parents to have PCD. These genes affect how cilia grow and function. Cilia are tiny, hair-like structures that line the airways.
                
The airways include your nose and linked air passages; mouth; larynx (LAR-ingks), or voice box; trachea (TRA-ke-ah), or windpipe; and tubes called bronchial tubes or bronchi, and their branches.
                
Cilia move mucus (a slimy substance) through your airways and toward your mouth to be coughed or sneezed out of your body. The mucus contains inhaled dust, bacteria, and other small particles.
                
Faulty genes may cause the cilia to be the wrong size or shape or move in the wrong way. Sometimes the cilia are missing altogether. If the cilia don't work well, bacteria stay in your airways. This can cause breathing problems, infections, and other disorders.
                
Primary Ciliary Dyskinesia
                

                
No single faulty gene causes all cases of PCD. Rather, many genes are associated with the disease.
                
If a child inherits a faulty gene (or genes) from only one parent, he or she may be a "PCD carrier." Carriers usually have no symptoms of PCD. However, carriers can pass faulty PCD genes on to their children.
Source: NHLBI
Topic: Primary Ciliary Dyskinesia
Question: Who is at risk for Primary Ciliary Dyskinesia? ?
Answer: Primary ciliary dyskinesia (PCD) is a rare disease that affects both males and females. The disease also affects people from all racial and ethnic groups.
                
Some people who have PCD have breathing problems from the moment of birth. However, other people can go through all or most of their lives without knowing that they have the disease.
Source: NHLBI
Topic: Pulmonary Embolism
Question: What is (are) Pulmonary Embolism ?
Answer: Pulmonary embolism (PULL-mun-ary EM-bo-lizm), or PE, is a sudden blockage in a lung artery. The blockage usually is caused by a blood clot that travels to the lung from a vein in the leg.
                
A clot that forms in one part of the body and travels in the bloodstream to another part of the body is called an embolus (EM-bo-lus).
                
PE is a serious condition that can:
                
Damage part of your lung because of a lack of blood flow to your lung tissue. This damage may lead to pulmonary hypertension (increased pressure in the pulmonary arteries).
                
Cause low oxygen levels in your blood.
                
Damage other organs in your body because of a lack of oxygen.
                
If a blood clot is large, or if there are many clots, PE can cause death.
                
Overview
                
PE most often is a complication of a condition called deep vein thrombosis (DVT). In DVT, blood clots form in the deep veins of the bodymost often in the legs. These clots can break free, travel through the bloodstream to the lungs, and block an artery.
                
Deep vein clots are not like clots in veins close to the skin's surface. Those clots remain in place and do not cause PE.
                
Outlook
                
The exact number of people affected by DVT and PE isn't known. Estimates suggest these conditions affect 300,000 to 600,000 people in the United States each year.
                
If left untreated, about 30 percent of patients who have PE will die. Most of those who die do so within the first few hours of the event.
                
The good news is that a prompt diagnosis and proper treatment can save lives and help prevent the complications of PE.
Source: NHLBI