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A Medical Dictionary of Medical Terminology
  

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Jaundice

Jaundice causes your skin and the whites of your eyes to turn yellow. Too much bilirubin causes jaundice. Bilirubin is a yellow chemical in hemoglobin, the substance that carries oxygen in your red blood cells. As red blood cells break down, your body builds new cells to replace them. The old ones are processed by the liver. If the liver cannot handle the blood cells as they break down, bilirubin builds up in the body and your skin may look yellow.

Many healthy babies have some jaundice during the first week of life. It usually goes away. However, jaundice can happen at any age and may be a sign of a problem. Jaundice can happen for many reasons, such as:

Common Infant and Newborn Problems

It is hard when your baby is sick. Common health problems in babies include colds, coughs, fevers, and vomiting. Babies also commonly have skin problems, like diaper rash or cradle cap.

Many of these problems are not serious. It is important to know how to help your sick baby, and to know the warning signs for more serious problems. Trust your intuition - if you are worried about your baby, call your health care provider right away.

Alpha-1 Antitrypsin Deficiency

What is alpha-1 antitrypsin deficiency (AAT deficiency)?

Alpha-1 antitrypsin deficiency (AAT deficiency, or AATD) is an inherited condition that raises your risk for lung and liver disease. If you have this condition, your body doesn't make enough alpha-1 antitrypsin (AAT).

AAT is made by your liver. It helps protect your lungs from inflammation and irritating substances you might breathe in, such as smoke. If your liver doesn't make enough AAT, your lungs may be more easily damaged from smoking, pollution, or dust from the environment. This can lead to a serious lung condition called chronic obstructive pulmonary disease (COPD). AAT deficiency may also cause a liver disease called cirrhosis. This is more common in children who have AAT deficiency.

What causes alpha-1 antitrypsin deficiency (AAT deficiency)?

AAT deficiency is a genetic disorder. That means it's caused by changes in your genes, which may also be called gene variants or mutations.

Your genes carry information that controls what you look like and how your body works. AAT deficiency is caused by changes in the SERPINA1 gene, which carries instructions for making the AAT protein. These gene changes are inherited from your parents, so AAT deficiency tends to run in families:

There are a few gene changes that cause AAT deficiency. These gene changes can:

What are the symptoms of alpha-1 antitrypsin deficiency (AAT deficiency)?

Some people who have AAT deficiency do not have any symptoms. For those who do, symptoms usually appear in people between 20 and 50 years old. These symptoms may include:

Some people who have AAT deficiency may have liver damage. Signs of liver damage include jaundice (a condition that causes your skin and eyes to turn yellow) and swelling in your legs.

Rarely, AAT deficiency can cause skin problems, such as painful lumps or patches.

How is alpha-1 antitrypsin deficiency (AAT deficiency) diagnosed?

Your health care provider may test you for AAT deficiency if you have:

AAT deficiency in babies often affects the liver. Your baby may need AAT testing if he or she has signs of liver disease such as jaundice or abnormal liver enzyme tests.

A blood test can check the level of AAT protein in your blood. If the level is lower than normal, it is likely that you have AAT deficiency.

A genetic test is the most certain way to check for AAT deficiency and should be done to confirm the results of the blood test. There are two types of genetic tests:

If your lungs are affected, you may also have lung function tests to see how well your lungs are working.

What are the treatments for alpha-1 antitrypsin deficiency (AAT deficiency)?

There is no cure for AAT deficiency, but there are treatments to help with the symptoms and slow the lung damage it causes. Treatment options may include:

To help prevent or delay lung damage, it is important to quit smoking (if you smoke) and avoid secondhand smoke, dust, and air pollution. Ask your provider If you need to stop drinking alcohol.

Birth Weight

What is birth weight?

Birth weight is the first weight of your baby, taken just after being born. A low birth weight means that the baby is less than 5 pounds, 8 ounces. A high birth weight means that the baby is more than 8 pounds, 13 ounces.

What can cause low birth weight?

A baby with a low birth weight can be born too small, too early (premature), or both. This can happen for many different reasons. They include:

What problems can low birth weight cause?

Babies with low birth weight may be more at risk of certain health problems. They include immediate problems, such as:

There is also a higher risk of longer-term problems, including:

What can cause high birth weight?

Causes of high birth weight can include:

What problems can high birth weight cause?

High birth weight can be a concern because it can make delivery of the baby difficult and raise the risk of birth injuries. The baby is at higher risk of problems with:

Can birth weight problems be prevented?

You may be able to prevent some birth weight problems by:

Liver Diseases

Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons.

There are many kinds of liver diseases:

Symptoms of liver disease can vary, but they often include swelling of the abdomen and legs, bruising easily, changes in the color of your stool and urine, and jaundice, or yellowing of the skin and eyes. Sometimes there are no symptoms. Tests such as imaging tests and liver function tests can check for liver damage and help to diagnose liver diseases.

Sickle Cell Disease

What is sickle cell disease (SCD)?

Sickle cell disease (SCD) is a group of inherited red blood cell disorders. If you have SCD, there is a problem with your hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. With SCD, the hemoglobin forms into stiff rods within the red blood cells. This changes the shape of the red blood cells. The cells are supposed to be disc-shaped, but this changes them into a crescent, or sickle, shape.

The sickle-shaped cells are not flexible and cannot change shape easily. Many of them burst apart as they move through your blood vessels. The sickle cells usually only last 10 to 20 days, instead of the normal 90 to 120 days. Your body may have trouble making enough new cells to replace the ones that you lost. Because of this, you may not have enough red blood cells. This is a condition called anemia, and it can make you feel tired.

The sickle-shaped cells can also stick to vessel walls, causing a blockage that slows or stops the flow of blood. When this happens, oxygen can't reach nearby tissues. The lack of oxygen can cause attacks of sudden, severe pain, called pain crises. These attacks can occur without warning. If you get one, you might need to go to the hospital for treatment.

What causes sickle cell disease (SCD)?

The cause of SCD is a defective gene, called a sickle cell gene. People with the disease are born with two sickle cell genes, one from each parent.

If you are born with one sickle cell gene, it's called sickle cell trait. People with sickle cell trait are generally healthy, but they can pass the defective gene on to their children.

Who is more likely to have sickle cell disease (SCD)?

In the United States, most of the people with SCD are African Americans:

SCD also affects some people who come from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds.

What are the symptoms of sickle cell disease (SCD)?

People with SCD start to have signs of the disease during the first year of life, usually around 5 or 6 months of age. Early symptoms of SCD may include:

The effects of SCD vary from person to person and can change over time. Most of the signs and symptoms of SCD are related to complications of the disease. They may include severe pain, anemia, organ damage, and infections.

How is sickle cell disease (SCD) diagnosed?

A blood test can show if you have SCD or sickle cell trait. All states now test newborns as part of their screening programs, so treatment can begin early.

People who are thinking about having children can have the test to find out how likely it is that their children will have SCD.

Health care providers can also diagnose SCD before a baby is born. That test uses a sample of amniotic fluid (the liquid in the sac surrounding the baby) or tissue taken from the placenta (the organ that brings oxygen and nutrients to the baby).

What are the treatments for sickle cell disease (SCD)?

Treatments for SCD include:

To stay as healthy as possible, make sure that you:

NIH: National Heart, Lung, and Blood Institute

Bile Duct Cancer

Your liver makes a digestive juice called bile. Your gallbladder stores it between meals. When you eat, your gallbladder pushes the bile into tubes called bile ducts. They carry the bile to your small intestine. The bile helps break down fat. It also helps the liver get rid of toxins and wastes.

Bile duct cancer is rare. It can happen in the parts of the bile ducts that are outside or inside the liver. Cancer of the bile duct outside of the liver is much more common. Risk factors include having inflammation of the bile duct, ulcerative colitis, and some liver diseases.

Symptoms can include:

Tests to diagnose bile duct cancer may include a physical exam, imaging tests of the liver and bile ducts, blood tests, and a biopsy.

Treatments include surgery, radiation therapy, and chemotherapy.

NIH: National Cancer Institute

Cerebral Palsy

What is cerebral palsy (CP)?

Cerebral palsy (CP) is a group of disorders that cause problems with movement, balance, and posture. CP affects the cerebral motor cortex. This is the part of the brain that directs muscle movement. In fact, the first part of the name, cerebral, means having to do with the brain. The second part, palsy, means weakness or problems with using the muscles.

What are the types of cerebral palsy (CP)?

There are different types of CP:

What causes cerebral palsy (CP)?

CP is caused by abnormal development or damage to the developing brain. It could happen when:

Both the brain damage and the disabilities it causes are permanent.

Who is at risk for cerebral palsy (CP)?

CP is more common among boys than girls. It affects black children more often than white children.

Certain medical conditions or events that can happen during pregnancy and delivery that may increase a baby's risk of being born with cerebral palsy, including:

What are the signs of cerebral palsy (CP)?

There are many different types and levels of disability with CP. So the signs can be different in each child.

The signs usually appear in the early months of life. But sometimes there is a delay in getting a diagnosis until after age two. Infants with CP often have developmental delays. They are slow to reach developmental milestones such as learning to roll over, sit, crawl, or walk. They may also have abnormal muscle tone. They may seem floppy, or they may be stiff or rigid.

It's important to know that children without CP can also have these signs. Contact your child's health care provider know if your child has any of these signs, so you can get a correct diagnosis.

How is cerebral palsy (CP) diagnosed?

Diagnosing CP involves several steps:

What are the treatments for cerebral palsy (CP)?

There is no cure for CP, but treatment can improve the lives of those who have it. It is important to begin a treatment program as early as possible.

A team of health professionals will work with you and your child to develop a treatment plan. Common treatments include:

Can cerebral palsy (CP) be prevented?

You cannot prevent the genetic problems that can cause CP. But it may be possible to manage or avoid some of the risk factors for CP. For example, making sure that pregnant women have been vaccinated could prevent certain infections that can cause CP in unborn babies. Using cars seats for infants and toddlers could prevent head injuries, which can be a cause of CP.

Centers for Disease Control and Prevention

Cirrhosis

Cirrhosis is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue cannot do what healthy liver tissue does - make protein, help fight infections, clean the blood, help digest food and store energy. Cirrhosis can lead to :

A small number of people with cirrhosis get liver cancer.

Your doctor will diagnose cirrhosis with blood tests, imaging tests, or a biopsy.

Cirrhosis has many causes. In the United States, the most common causes are chronic alcoholism and hepatitis. Nothing will make the scar tissue disappear, but treating the cause can keep it from getting worse. If too much scar tissue forms, you may need to consider a liver transplant.

NIH: National Institute of Diabetes and Digestive and Kidney Diseases

Fatty Liver Disease

What is fatty liver disease?

Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Fatty liver disease is a condition in which fat builds up in your liver. There are two main types:

What is nonalcoholic fatty liver disease (NAFLD)?

NAFLD is a type of fatty liver disease that is not related to heavy alcohol use. There are two kinds:

What is alcoholic fatty liver disease?

Alcoholic fatty liver disease is due to heavy alcohol use. Your liver breaks down most of the alcohol you drink, so it can be removed from your body. But the process of breaking it down can generate harmful substances. These substances can damage liver cells, promote inflammation, and weaken your body's natural defenses. The more alcohol that you drink, the more you damage your liver. Alcoholic fatty liver disease is the earliest stage of alcohol-related liver disease. The next stages are alcoholic hepatitis and cirrhosis.

Who is at risk for fatty liver disease?

The cause of nonalcoholic fatty liver disease (NAFLD) is unknown. Researchers do know that it is more common in people who:

NAFLD affects about 25% of people in the world. As the rates of obesity, type 2 diabetes, and high cholesterol are rising in the United States, so is the rate of NAFLD. NAFLD is the most common chronic liver disorder in the United States.

Alcoholic fatty liver disease only happens in people who are heavy drinkers, especially those who have been drinking for a long period of time. The risk is higher for heavy drinkers who are women, have obesity, or have certain genetic mutations.

What are the symptoms of fatty liver disease?

Both NAFLD and alcoholic fatty liver disease are usually silent diseases with few or no symptoms. If you do have symptoms, you may feel tired or have discomfort in the upper right side of your abdomen.

How is fatty liver disease diagnosed?

Because there are often no symptoms, it is not easy to find fatty liver disease. Your doctor may suspect that you have it if you get abnormal results on liver tests that you had for other reasons. To make a diagnosis, your doctor will use:

As part of the medical history, your doctor will ask about your alcohol use, to find out whether fat in your liver is a sign of alcoholic fatty liver disease or nonalcoholic fatty liver (NAFLD). He or she will also ask which medicines you take, to try to determine whether a medicine is causing your NAFLD.

During the physical exam, your doctor will examine your body and check your weight and height. Your doctor will look for signs of fatty liver disease, such as:

You will likely have blood tests, including liver function tests and blood count tests. In some cases you may also have imaging tests, like those that check for fat in the liver and the stiffness of your liver. Liver stiffness can mean fibrosis, which is scarring of the liver. In some cases you may also need a liver biopsy to confirm the diagnosis, and to check how bad the liver damage is.

What are the treatments for fatty liver disease?

Doctors recommend weight loss for nonalcoholic fatty liver. Weight loss can reduce fat in the liver, inflammation, and fibrosis. If your doctor thinks that a certain medicine is the cause of your NAFLD, you should stop taking that medicine. But check with your doctor before stopping the medicine. You may need to get off the medicine gradually, and you might need to switch to another medicine instead.

There are no medicines that have been approved to treat NAFLD. Studies are investigating whether a certain diabetes medicine or Vitamin E can help, but more studies are needed.

The most important part of treating alcohol-related fatty liver disease is to stop drinking alcohol. If you need help doing that, you may want to see a therapist or participate in an alcohol recovery program. There are also medicines that can help, either by reducing your cravings or making you feel sick if you drink alcohol.

Both alcoholic fatty liver disease and one type of nonalcoholic fatty liver disease (nonalcoholic steatohepatitis) can lead to cirrhosis. Doctors can treat the health problems caused by cirrhosis with medicines, operations, and other medical procedures. If the cirrhosis leads to liver failure, you may need a liver transplant.

What are some lifestyle changes that can help with fatty liver disease?

If you have any of the types of fatty liver disease, there are some lifestyle changes that can help:

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