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:

• If you have two mutated copies of the gene, it means you have a condition called AAT deficiency. People with this disorder have a higher risk of getting lung disease or liver damage before the age of 45.
• If you have one mutated copy of the gene, you are a carrier of AAT deficiency. In these cases, this means you are at slightly higher risk of developing lung disease, especially if you have other risk factors, such as being a smoker. You could still pass the mutated gene on to your children.

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

• Decrease the amount of AAT protein your liver makes.
• Prevent your liver from making any AAT.
• Affect the shape of the AAT protein so that it can't move out of your liver to protect your lungs. Over time, AAT builds up in your liver and causes damage.

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:

• Wheezing
• Shortness of breath, especially after exercise
• Chronic cough with phlegm (mucus)
• Repeated respiratory infections such as colds and the flu
• Chest pain
• Fatigue
• Faster-than-normal heartbeat when you stand up
• Vision problems
• Losing weight without trying

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:

• Symptoms of AAT deficiency
• A condition that could be related to AAT deficiency
• Relatives who have AAT deficiency
• Relatives who have a lung or liver disease that could be related to AAT deficiency

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:

• A genotype test looks for the more common types of gene changes that can cause AAT deficiency.
• A phenotype test checks for changes in the AAT protein that change how it would normally work.

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:

• Inhaled medicines to help you breathe better.
• Pulmonary rehabilitation.
• Oxygen therapy.
• Augmentation therapy, which is a lifelong treatment. It raises the levels of the AAT protein in your lungs, using ATT protein taken from the blood of donors. It helps slow down lung damage. It cannot prevent liver damage.
• Lung surgery or a lung transplant, if your lungs are severely damaged.
• Liver transplant, if your liver is severely damaged.

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.

Antibiotic Resistance

What are antibiotics?

Antibiotics are medicines that treat bacterial infections in humans and animals. They work by killing the bacteria or making it hard for the bacteria to grow and multiply. When used properly, antibiotics can save lives. But there is a growing problem of antibiotic resistance.

What is antibiotic resistance?

Antibiotic resistance happens when bacteria change and can resist the effects of an antibiotic. The bacteria are not killed, and they continue to grow. The infections these bacteria cause are called resistant infections. Resistant infections can be difficult, and sometimes impossible, to treat. In some cases, they can even be deadly.

Antibiotic resistance does not mean that your body is resistant to antibiotics.

There are many different types of resistant infections. They include MRSA and drug-resistant tuberculosis (TB). If you get a resistant infection, you might need:

• A long hospital stay
• A long recovery
• Follow-up visits with health care providers
• Treatments that are expensive and may have severe side effects

Antibiotic resistance is one type of antimicrobial resistance. There are other types; viruses, fungi, and parasites can also become resistant to medicines.

How do bacteria become resistant to antibiotics?

Antibiotic resistance is a natural process that happens over time. To survive, bacteria can develop defense strategies against antibiotics. This happens through genetic changes in the bacteria. These resistant bacteria survive, grow, and spread.

Each time you take antibiotics, there is a risk that the bacteria will become resistant. So it is important to only take antibiotics when you really need them. They won't work on viral infections such as colds and the flu. And you don't need antibiotics for every bacterial infection. For example, you may not need them for some sinus and ear infections.

Who is more likely to develop an antibiotic-resistant infection?

Anyone can develop an antibiotic-resistant infection, but certain people may be at higher risk, including those who:

• Have a weakened immune system from diseases such as HIV or from taking medicines that affect the immune system
• Are getting medical care such as surgery and hospital stays
• Take antibiotics for a long time
• Are infants, especially if they were born prematurely
• Are older adults

How can antibiotic resistance be prevented?

There will always be some antibiotic resistance, since it happens naturally. But you can help fight against antibiotic resistance by taking these steps:

• Don't use antibiotics for viruses.
• Don't pressure your health care provider to give you an antibiotic if they don't think you need one.
• When you take antibiotics, follow the directions carefully.
• Don't share your antibiotics with others.
• Don't save antibiotics for later or use someone else's prescription.
• Help prevent the spread of bacterial infections with good hygiene habits. These include washing your hands often and covering your mouth and nose when coughing or sneezing.

Centers for Disease Control and Prevention

Asthma in Children

What is asthma?

Asthma is a chronic (long-term) lung disease. It affects your airways, the tubes that carry air in and out of your lungs. When you have asthma, your airways can become inflamed and narrowed. This can cause wheezing, coughing, and tightness in your chest. When these symptoms get worse than usual, it is called an asthma attack or flare-up.

How does asthma affect children?

Asthma often starts during childhood, usually before age 5. Many children have asthma - it is the most common chronic disease of childhood. It can cause children to miss school and end up in the hospital. But treatments can help manage asthma.

What causes asthma in children?

The exact cause of asthma is unknown. Genetics and environment likely play a role in which children get asthma.

An asthma attack can happen when your child is exposed to an asthma trigger. An asthma trigger is something that can set off or worsen asthma symptoms. Different triggers can cause different types of asthma:

• Allergic asthma is caused by allergens. Allergens are substances that cause an allergic reaction. They can include
  • Dust mites
  • Mold
  • Pets
  • Pollen from grass, trees, and weeds
  • Waste from pests such as cockroaches and mice
• Nonallergic asthma is caused by triggers that are not allergens, such as
  • Breathing in cold air
  • Certain medicines
  • Household chemicals
  • Infections such as colds and the flu
  • Outdoor air pollution
  • Tobacco smoke
• Exercise-induced asthma happens during physical exercise, especially when the air is dry

Asthma triggers may be different for each child and can change over time.

Which children are at risk for asthma?

Certain factors raise the risk of asthma in children:

• Being exposed to secondhand smoke when their mother is pregnant with them or when they are small children
• Genetics and family history. Children are more likely to have asthma if one of their parents has it, especially if it's the mother.
• Race or ethnicity. Black and African Americans and Puerto Ricans are at higher risk of asthma than people of other races or ethnicities.
• Having other diseases or conditions such as obesity and allergies
• Often having viral respiratory infections as young children
• Sex. In children, asthma is more common in boys. In teens, it is more common in girls.

What are the symptoms of asthma in children?

The symptoms of asthma in children include:

• Chest tightness
• Coughing, especially at night or early morning
• Breathing problems, such as shortness of breath, rapid breathing, or gasping for air
• Feeling tired
• Dark circles under the eyes
• Being irritable
• Wheezing, which causes a whistling sound when they breathe out
• Trouble eating or sucking (in infants)

These symptoms can range from mild to severe. They may happen often or only once in a while.

When children have an asthma attack, their symptoms get much worse. The attacks may come on gradually or suddenly. Sometimes they can be life-threatening. Warning signs of a severe attack include severe coughing, serious breathing problems, and turning very pale or blue in the face, lips and/or fingernails. If your child has those symptoms, get medical help right away.

How is asthma in children diagnosed?

It can be hard to diagnose asthma in children, especially if they are young. Asthma has similar symptoms as other childhood conditions. And some children may not have asthma symptoms very often, so it may seem like they are having respiratory infections instead.

Your child's health care provider may use many tools to diagnose asthma:

• Physical exam
• Medical history
• Chest x-ray
• Lung function tests, including spirometry, to test how well the lungs work. Younger children are usually not able to do these tests.
• Allergy skin or blood tests, if you have a history of allergies. These tests check which allergens cause a reaction from your immune system.

If you have a young child who cannot do lung function tests, the provider may suggest doing a trial of asthma medicines. The trial involves giving your child the medicines for several weeks to see whether the symptoms get better.

What are the treatments for asthma in children?

If your child has asthma, you will work with their health care provider to create a treatment plan. The plan will include ways to manage your child's asthma symptoms and prevent asthma attacks, such as:

• Strategies to avoid triggers. For example, if tobacco smoke is a trigger for your child, you should not allow anyone to smoke in your home or car.
• Short-term relief medicines, also called quick-relief medicines. They help prevent symptoms or relieve symptoms during an asthma attack. They include an inhaler to have for your child at all times. It may also include other types of medicines which work quickly to help open your child's airways.
• Control medicines. They work by reducing airway inflammation and preventing narrowing of the airways. Not all children will take control medicines. Whether or not your child needs them depends on how severe the asthma is and how often your child has symptoms.

If your child has a severe attack and the short-term relief medicines do not work, get medical help right away.

Your child's provider may adjust the treatment until the asthma symptoms are controlled.

Bell's Palsy

Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the face. Symptoms appear suddenly and are at their worst about 48 hours after they start. They can range from mild to severe and include:

• Twitching
• Weakness
• Paralysis
• Drooping eyelid or corner of mouth
• Drooling
• Dry eye or mouth
• Excessive tearing in the eye
• Impaired ability to taste

Scientists think that a viral infection makes the facial nerve swell or become inflamed. You are most likely to get Bell's palsy if you are pregnant, diabetic or sick with a cold or flu.

Three out of four patients improve without treatment. With or without treatment, most people begin to get better within 2 weeks and recover completely within 3 to 6 months.

NIH: National Institute of Neurological Disorders and Stroke

Botox

Botox is a drug made from a toxin produced by the bacterium Clostridium botulinum. It's the same toxin that causes a life-threatening type of food poisoning called botulism. Doctors use it in small doses to treat health problems, including:

• Temporary smoothing of facial wrinkles and improving your appearance
• Severe underarm sweating
• Cervical dystonia - a neurological disorder that causes severe neck and shoulder muscle contractions
• Blepharospasm - uncontrollable blinking
• Strabismus - misaligned eyes
• Chronic migraine
• Overactive bladder

Botox injections work by weakening or paralyzing certain muscles or by blocking certain nerves. The effects last about three to twelve months, depending on what you are treating. The most common side effects are pain, swelling, or bruising at the injection site. You could also have flu-like symptoms, headache, and upset stomach. Injections in the face may also cause temporary drooping eyelids. You should not use Botox if you are pregnant or breastfeeding.