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Carbohydrate Metabolism Disorders

Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process.

Carbohydrate metabolism disorders are a group of metabolic disorders. Normally your enzymes break carbohydrates down into glucose (a type of sugar). If you have one of these disorders, you may not have enough enzymes to break down the carbohydrates. Or the enzymes may not work properly. This causes a harmful amount of sugar to build up in your body. That can lead to health problems, some of which can be serious. Some of the disorders are fatal.

These disorders are inherited. Newborn babies get screened for many of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder.

Treatments may include special diets, supplements, and medicines. Some babies may also need additional treatments, if there are complications. For some disorders, there is no cure, but treatments may help with symptoms.

Chest Pain

Having a pain in your chest can be scary. It does not always mean that you are having a heart attack. There can be many other causes, including:

  • Other heart problems, such as angina
  • Panic attacks
  • Digestive problems, such as heartburn or esophagus disorders
  • Sore muscles
  • Lung diseases, such as pneumonia, pleurisy, or pulmonary embolism
  • Costochondritis - an inflammation of joints in your chest

Some of these problems can be serious. Get immediate medical care if you have chest pain that does not go away, crushing pain or pressure in the chest, or chest pain along with nausea, sweating, dizziness or shortness of breath. Treatment depends on the cause of the pain.

Cholesterol Levels: What You Need to Know

What is cholesterol?

Cholesterol is a waxy, fat-like substance that's found in all the cells in your body. Your body needs some cholesterol to work properly. But if you have too much of it in your blood, it can stick to the walls of your arteries and narrow or even block them. This puts you at risk of coronary artery disease and other heart diseases.

How do you measure cholesterol levels?

A blood test called a lipoprotein or lipid panel can measure your cholesterol levels. Before the test, you'll usually need to fast (not eat or drink anything but water) for 9 to 12 hours. Follow the instructions your health care provider gives you.

The test gives information about your:

  • Total cholesterol. This is a measure of the total amount of cholesterol in your blood. It includes both low-density lipoprotein (LDL) cholesterol and high-density lipoprotein (HDL) cholesterol.
  • LDL cholesterol. LDL is often called "bad" cholesterol because it is the main source of cholesterol buildup and blockage in the arteries.
  • HDL cholesterol. HDL is often called "good" cholesterol because it helps remove cholesterol from your arteries.
  • Non-HDL. This number is your total cholesterol minus your HDL. Your non-HDL includes LDL and other types of cholesterol such as VLDL (very-low-density lipoprotein). It gives a better picture of all the "bad" types of cholesterol that can raise your heart risk.
  • Triglycerides. This is another type of fat in your blood that can raise your risk of heart disease, especially in women.
What do my cholesterol numbers mean?

Cholesterol numbers are measured in milligrams per deciliter (mg/dL). Talk with your provider about what your cholesterol numbers should be. The numbers that are best for you may depend on your age, race, blood pressure, weight, family history, and more. However, here are some general guidelines showing the desirable levels (levels that are healthy for most people):

Anyone age 19 or younger:

Type of CholesterolHealthy LevelTotal CholesterolLess than 170 mg/dLNon-HDLLess than 120 mg/dLLDLLess than 110 mg/dLHDLMore than 45mg/dL

Men age 20 or older:

Type of CholesterolHealthy LevelTotal CholesterolLess than 200 mg/dLNon-HDLLess than 130 mg/dLLDLLess than 100 mg/dLHDLGreater than or equal to 60 mg/dL is best.Levels less than 40 mg/dL are considered low.

Women age 20 or older:

Type of CholesterolHealthy LevelTotal CholesterolLess than 200 mg/dLNon-HDLLess than 130 mg/dLLDLLess than 100 mg/dLHDLGreater than or equal to 60 mg/dL is best.Levels less than 50 mg/dL are considered low.

Triglycerides are not a type of cholesterol, but they are also measured in this test. A normal triglyceride level is below 150 mg/dL. You might need treatment if you have triglyceride levels that are borderline high (150-199 mg/dL) or high (200 mg/dL or more).

What are risk-based LDL goals?

If you have heart disease, or your provider thinks you might be at higher risk, they may use your LDL cholesterol level to help you set goals for your LDL cholesterol levels.

Your provider may use a new risk estimator tool called PREVENT, which stands for Predicting Risk of Cardiovascular Disease EVENTs, to guide these goals and estimate your risk of heart disease. It looks at factors like your age, health history, and family history, and puts you in a risk group.

LDL goal by risk level

Risk levelHealthy LDL LevelLow or borderline risk100 mg/dL or belowHigh risk of future heart attack or stroke70 mg/dL or belowAlready have heart disease70 mg/dL or belowAlready have heart disease and are at very high risk55 mg/dL or belowHow often should I get a cholesterol test?

When and how often you should get a cholesterol test depends on your age, risk factors, and family history. The general recommendations are:

For people who are age 21 or younger:

  • Children should be screened at least once between ages 9 to 11 and again once between ages 17 and 21
  • Some children may have this test starting at age 2 if there is a family history of high cholesterol,heart attack, orstroke

For people who are ages 21 to 65:

  • Younger adults should have the test every 5 years
  • Men ages 45 to 65 and women ages 55 to 65 should have it every 1 to 2 years

For people older than 65:

  • They should be tested every year

Additional testing may include:

  • A lipoprotein(a) blood test once as an adult, and an apolipoprotein B or "apo B" test if you have certain health conditions. These special blood tests help your provider understand your heart risk.
  • A coronary calcium scan may be done to help determine if you need cholesterol medicines. This is animaging testwhich checks to see if you have calcium built up in your heart arteries.
What affects my cholesterol levels?

Many factors can affect your cholesterol levels. Some of them are things you can change:

  • Diet. Saturatedfatand cholesterol in the food you eat make your blood cholesterol level rise. Saturated fat is the main problem, but cholesterol in foods also matters. Reducing the amount of saturated fat in your diet helps lower your blood cholesterol level. Foods that have high levels of saturated fats include red meats, full-fat dairy products, chocolate, some baked goods, and many deep-fried and processed foods.
  • Weight. Being overweight or havingobesityare risk factors for heart disease. They also tend to increase your cholesterol. If you have high cholesterol and are overweight, it's recommended that you lose at least 5% of your body weight, which would be 10 pounds for a 200-pound person.
  • Lack of physical activity. Not being physically active is a risk factor for heart disease.
  • Smoking.Cigarette smokinglowers your HDL cholesterol. Since HDL helps to remove cholesterol from your arteries, having a lower HDL level can contribute to a higher cholesterol level.

Some factors that you cannot change can also affect your cholesterol levels, such as

  • Age. Your cholesterol levels tend to rise as you get older. Even though it is less common, younger people, includingchildren and teens, can also have high cholesterol.
  • Sex. Between ages 20 and 39, men have a greater risk of high total cholesterol than women. But aftermenopause, a woman's risk goes up. This happens because menopause lowers levels of female hormones that may protect against high blood cholesterol.
  • Family history. Your genes partly determine how much cholesterol your body makes. High cholesterol can run in families.
  • Ethnicity. Your ethnicity may increase your risk of high cholesterol.
How can I lower my cholesterol?

You canlower your cholesterolthrough heart-healthy lifestyle changes: They include aheart-healthy eating plan,weight management, andregular physical activity.

If the lifestyle changes alone do not lower your cholesterol enough, you may also need to take medicines. There are several types ofcholesterol-lowering drugsavailable, includingstatins. You may need a statin if you:

  • Are age 30 or older and have an LDL cholesterol of 160 mg/dL or higher
  • Have a strong family history of heart disease

If you take medicines to lower your cholesterol, you still should continue with the lifestyle changes.

NIH: National Heart, Lung, and Blood Institute

Concussion

A concussion is a type of brain injury. It involves a short loss of normal brain function. It happens when a hit to the head or body causes your head and brain to move rapidly back and forth. This sudden movement can cause the brain to bounce around or twist in the skull, creating chemical changes in your brain. Sometimes it can also stretch and damage your brain cells.

Sometimes people call a concussion a "mild" brain injury. It is important to understand that while concussions may not be life-threatening, they can still be serious.

Concussions are a common type of sports injury. Other causes of concussions include blows to the head, bumping your head when you fall, being violently shaken, and car accidents.

Symptoms of a concussion may not start right away; they may start days or weeks after the injury. Symptoms may include a headache or neck pain. You may also have nausea, ringing in your ears, dizziness, or tiredness. You may feel dazed or not your normal self for several days or weeks after the injury. Consult your health care professional if any of your symptoms get worse, or if you have more serious symptoms such as:

  • Convulsions or seizures
  • Drowsiness or inability to wake up
  • A headache that gets worse and does not go away
  • Weakness, numbness, or decreased coordination
  • Repeated vomiting or nausea
  • Confusion
  • Slurred speech
  • Loss of consciousness

To diagnose a concussion, your health care provider will do a physical exam and will ask about your injury. You will most likely have a neurological exam, which checks your vision, balance, coordination, and reflexes. Your health care provider may also evaluate your memory and thinking. In some cases, you may also have a scan of the brain, such as a CT scan or an MRI. A scan can check for bleeding or inflammation in the brain, as well as a skull fracture (break in the skull).

Most people recover fully after a concussion, but it can take some time. Rest is very important after a concussion because it helps the brain to heal. In the very beginning, you may need to limit physical activities or activities that involve a lot of concentration, such as studying, working on the computer, or playing video games. Doing these may cause concussion symptoms (such as headache or tiredness) to come back or get worse. Then when your health care provider says that it is ok, you can start to return to your normal activities slowly.

Centers for Disease Control and Prevention

Craniofacial Abnormalities

Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft lip and palate, are among the most common of all birth defects. Others are very rare. Most of them affect how a person's face or head looks. These conditions may also affect other parts of the body.

Treatment depends on the type of problem. Plastic and reconstructive surgery may help the person's appearance.

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