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Genetic Disorders

What are genetic disorders?

Genetic disorders are health conditions caused by changes (also called mutations or variants) in your genes. Genes are parts of DNA found in your cells that carry instructions for how your body grows, develops, and functions. Many genes tell your body how to make proteins, which are needed for your body to work properly.

What causes genetic disorders?

A genetic disorder happens when a gene variant changes how a protein is made. The variant may cause the protein to work poorly or not be made at all. If genes don't make the right proteins, or don't make them correctly, it can lead to a genetic disorder.

Not all gene changes cause disease. Often, these changes have no effect. But sometimes, even a small change in DNA can affect how proteins are made.

Gene variants can be grouped into two main types:

  • Inherited variants (also called germline variants) are passed down from your parents. They come from egg or sperm cells.
  • Non-inherited (also called somatic variants) are not passed down from your parents. They happen during your lifetime. They may be caused by things like harmful chemicals or ultraviolet (UV) rays from the sun.
What are the types of genetic disorders?

Genetic disorders may be caused by:

  • Single gene disorders are caused by changes in one gene. Examples can include sickle cell anemia, where a change in a single gene can cause the condition, and Charcot-Marie-Tooth disease, where a variant in one of many different genes can cause the condition.
  • Chromosomal disorders are caused by missing, extra, or altered chromosomes. Chromosomes are structures that carry genes. These disorders involve changes in the number of chromosomes people have or changes in the structure of one or more chromosomes. An example is Down syndrome, which is caused by an extra copy of chromosome 21.
  • Complex (multifactorial) disorders are caused by changes in many genes. Each change alone may not cause the disease, but together they increase the risk. Lifestyle and environmental factors, such as exercise, diet, or exposure to pollutants, also play a role. Colon cancer is an example.
What are the different ways a genetic disorder can be inherited?

Some genetic conditions are passed down through families (inherited) in one of several patterns, depending on the specific gene involved.

Patterns of inheritance can include:

  • Dominant means you only need one changed gene to cause the condition.
  • Recessive means you need two changed copies of the gene (one from each parent) for the condition to occur.
  • X-linked conditions involve genes located on the X chromosome. These conditions often affect males more frequently.
  • Mitochondrial conditions are passed down by the mother.
How are genetic disorders diagnosed?

Your health care provider may check for a genetic condition based on:

  • A physical examination.
  • Your personal medical history.
  • Your family health history.
  • Laboratory tests, including genetic testing.

NIH: National Library of Medicine

Genital Warts

What are genital warts?

Genital warts are a sexually transmitted infection (STI) caused by the human papillomavirus (HPV). There are many types of HPV. Some types of HPV can cause genital warts. Other types of HPV can cause cancer.

There is no treatment for HPV, but your health care provider can treat genital warts. HPV vaccines may help prevent some of the HPV infections that cause genital warts.

Who is at risk for genital warts?

If you are sexually active, you can get genital warts during oral, vaginal, or anal sex with an infected partner. You can still get genital warts even if they are so small that you can't see them.

It doesn't happen often, but genital warts can also be spread from a woman to her baby during childbirth.

What are the symptoms of genital warts?

Genital warts are often painless and may not cause any symptoms. You might not even know that you have them. Sometimes, they can also cause itching, burning, bleeding, or discomfort.

The warts usually appear as a small bump or group of bumps in the genital area. They are flesh-colored and can be flat or look bumpy like cauliflower.

How are genital warts diagnosed?

Your provider can usually find out if you have genital warts by seeing them during a physical exam or pelvic exam. In women, the warts usually occur in or around the vagina, on the cervix, or around the anus. Men may have warts on the tip of the penis, around the anus, or on the scrotum, thigh, or groin.

What are the treatments for genital warts?

The warts might disappear on their own, stay the same, or grow bigger or increase in number. A few ways that your provider can treat them include:

  • Use medicines, cream, or ointment
  • Remove them by burning, freezing, or cutting out the warts

HPV stays in your body even after treatment. This means that warts can come back, and you can still spread HPV to others after genital warts are removed.

Can genital warts be prevented?

Getting an HPV vaccine may help prevent genital warts. HPV vaccines provide the most protection if you get them before exposure to the virus. This means that it's best to get vaccinated before becoming sexually active. If you're over age 26 and haven't been vaccinated, talk with your provider about the possible benefits of vaccination.

Correct usage of latex condoms greatly reduces, but does not eliminate, the risk of catching or spreading HPV. If you or your partner is allergic to latex, you can use polyurethane condoms. The best way to avoid infection is not to have anal, vaginal, or oral sex.

Dept. of Health and Human Services Office on Women's Health

Gout

What is gout?

Gout is a common type of inflammatory arthritis. It causes pain, swelling, and redness in one or more joints. It usually happens as a flare, which can last for a week or two and then gets better. The flares often begin in your big toe or a lower limb.

What causes gout?

Gout happens when too much uric acid (urate) builds up in your body over a long time. Uric acid is a waste product your body makes when it breaks down purines. Purines are substances that are in your body's tissues and in many foods.

When your body breaks down old cells or digests foods that contain purine, most of the uric acid that's made dissolves in your blood. Your kidneys filter the uric acid out of your blood, and it leaves your body in your urine (pee).

However, sometimes your body can make too much uric acid or does not remove enough of it. Then the uric acid levels build up in your body, including in your blood. Having too much uric acid in the blood is called hyperuricemia. It does not cause health problems for everyone. But in some people, uric acid forms needle-like crystals. They can form in your joints, which causes gout. The crystals can also cause kidney stones.

Calcium pyrophosphate arthritis, sometimes called pseudogout, is a related disease. It causes similar symptoms and is sometimes confused with gout. But it is caused by a buildup of calcium phosphate, not uric acid.

Who is more likely to develop gout?

Many people develop gout. You are more likely to get it if you:

  • Are male.
  • Are older; it usually develops in middle age.
  • Have obesity.
  • Have certain health conditions, such as:
    • Heart failure
    • High blood pressure
    • Metabolic syndrome
    • Chronic kidney disease
    • Conditions that cause your cells to break down more quickly, such as psoriasis or some cancers
    • Rare genetic conditions that lead to increased uric acid
  • Have a family history of gout.
  • Have an unhealthy diet and eat foods that are rich in purines, such as red meat, organ meats, certain seafoods.
  • Drink alcohol.
  • Eat and drink lots of foods and beverages that contain fructose (a type of sugar).
  • Take certain medicines, such as diuretics (water pills), low-dose aspirin, and some medicines that weaken your immune system.
  • Take high amounts of niacin (vitamin B-3).
What are the symptoms of gout?

Gout usually happens in only one joint at a time. It is often found in the big toe, but can also affect other joints, including your other toes, ankle, and knee.

Gout flares often start suddenly at night, and the symptoms in the affected joint often include:

  • Intense pain, which may be bad enough to wake you up
  • Swelling
  • Redness
  • Warmth

The flares typically get better within a week or two. In between flares, you usually don't have symptoms. Some people may have flares often, while others may not have another flare for years. But over time, if left untreated, your flares may happen more often and last longer.

And if gout is untreated over long periods of time, you can develop tophi. Tophi are hard, uric acid deposits under the skin. They start out as painless, but over time, they can become painful. They can also cause bone and soft tissue damage and misshapen joints.

How is gout diagnosed?

To find out if you have gout, your health care provider:

  • Will take your medical history, which includes asking about your symptoms.
  • Will do a physical exam, including examining the affected joint(s).
  • May order various tests, such as:
    • A test of a sample of fluid from one of your painful joints. The fluid is examined under a microscope and is checked for uric acid crystals.
    • A uric acid blood or urine test.
    • An ultrasound or special CT scan to look for uric acid crystal buildup in the affected joint and check for other conditions that may be causing the symptoms.
What are the treatments for gout?

There are effective treatments for gout. Which treatment you get will depend on your symptoms and the cause of your gout. The goals of your treatment will be to:

  • Reduce the pain from gout flares, by using medicines such as:
    • Nonsteroidal anti-inflammatory drugs (NSAIDs) like ibuprofen.
    • Acetaminophen and the anti-inflammatory drug colchicine.
    • Oral or injected corticosteroids.
  • Prevent future flares, for example by:
    • Making lifestyle changes such as losing weight, limiting alcohol, and avoiding foods high in purines. If you are taking medicines that can cause high uric acid in the blood, your provider may suggest stopping or changing those medicines.
    • If needed, taking medicines to lower uric acid in the blood.
  • Prevent tophi and kidney stones, for example with medicines that lower uric acid in the blood.

With early diagnosis, treatment, and lifestyle changes, gout is one of the most controllable forms of arthritis. Treatment and lifestyle changes may help people avoid gout flares, lessen their symptoms, and sometimes even become gout free.

NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

Growth Disorders

Does your child seem much shorter - or much taller - than other kids his or her age? It could be normal. Some children may be small for their age but still be developing normally. Some children are short or tall because their parents are.

But some children have growth disorders. Growth disorders are problems that prevent children from developing normal height, weight, sexual maturity or other features.

Very slow or very fast growth can sometimes signal a gland problem or disease.

The pituitary gland makes growth hormone, which stimulates the growth of bone and other tissues. Children who have too little of it may be very short. Treatment with growth hormone can stimulate growth.

People can also have too much growth hormone. Usually the cause is a pituitary gland tumor, which is not cancer. Too much growth hormone can cause gigantism in children, where their bones and their body grow too much. In adults, it can cause acromegaly, which makes the hands, feet and face larger than normal. Possible treatments include surgery to remove the tumor, medicines, and radiation therapy.

H1N1 Flu (Swine Flu)

Swine flu is an infection caused by a virus. It's named for a virus that pigs can get. People do not normally get swine flu, but human infections can and do happen. In 2009 a strain of swine flu called H1N1 infected many people around the world.

The virus is contagious and can spread from human to human. Symptoms of swine flu in people are similar to the symptoms of regular human flu and include fever, cough, sore throat, body aches, headache, chills and fatigue.

There are antiviral medicines you can take to prevent or treat swine flu. There is a vaccine available to protect against swine flu. You can help prevent the spread of germs that cause respiratory illnesses like influenza by:

  • Covering your nose and mouth with a tissue when you cough or sneeze. Throw the tissue in the trash after you use it.
  • Washing your hands often with soap and water, especially after you cough or sneeze. You can also use alcohol-based hand cleaners.
  • Avoiding touching your eyes, nose or mouth. Germs spread this way.
  • Trying to avoid close contact with sick people.
  • Staying home from work or school if you are sick.

Centers for Disease Control and Prevention

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