Genetic Disorders and Birth Defects

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    A , Administration, answered

    Human beings naturally vary in body shape and size. Some of us have large frames, while others of us have small frames. If most of the women in our family are heavy, we may have a genetic predisposition to be larger. The foods that our ancestors ate may offer some interesting clues to an appropriate diet for our personal health. Ancestry is a factor in the high incidence of certain diet-related chronic illnesses, such as diabetes and alcoholism, among Native Americans in the U.S. Poverty has forced many Native American families to eat diets high in nontraditional, unhealthy foods, such as white flour and sugar. Research has shown that biological factors play a role in alcoholism and diabetes rates: Since fermented foods were not a part of the traditional diet, many Native Americans typically lack the enzyme to process alcohol and other sugars.

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    A , Internal Medicine, answered
    Every cell—and there are around 200 different types in the body—needs to know which few genes are relevant for it and of those genes, whether mom's or dad's is going to be expressed. The genes alone are useless, unless there's a way to find what you need, when you need it.

    Your body puts biological Post-It notes (called epigenetic tags) on certain genes to determine which genetic recipes get used. This tagging happens through a couple of chemical processes such as methylation and acetylation, but guess what? Actions you take during your pregnancy can influence these processes and determine where the Post-It notes go and which genes will be expressed, ultimately affecting the health of your child.
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    The sticky mucus associated with cystic fibrosis (CF) can cause many complications. The most common areas are in the respiratory, digestive and reproductive systems. Cystic fibrosis is one of the leading causes of bronchiectasis, a condition that damages the airways (making it harder to move air in and out of the lungs). It can also cause chronic lung infections as well as a pneumothorax (a condition in which air collects in the space that separates the lungs from the chest wall). Nutritional deficiencies may be associated with cystic fibrosis; it also increases the risk of diabetes. Children with cystic fibrosis are also at higher risk of intussusception, a condition in which a section of the intestines folds in on itself like an accordion and which can be very serious.
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    The genetic mutation that results in cystic fibrosis results in extremely thick secretions in the respiratory tract, digestive system and sweat glands. This eventually leads to lung infections, difficulties with digestion and nutrition, among other complications. The abnormal sweat gland secretions may be used to diagnose this disease.
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    A Oncology Nursing, answered on behalf of

    Traditionally, genetics has been a field of rare diseases causes by single gene mutations that affect few individuals. Since the completion of the human genome project, medicine has begun to rapidly gain knowledge into how our genes contribute to complex common diseases such as heart disease, strokes, neurological disease and cancer.  With increased understanding of the genetic basis of common and chronic health problems affecting both children and adults, this allows a physician to improve their ability to diagnose, manage, treat and possibly prevent many disorders.

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    To a degree. Studies of fraternal and identical twins indicate that half of our ability to be happy is determined by genetic traits, such as an easygoing nature. The other half is determined by our careers, lifestyles and other external matters.

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    A , Internal Medicine, answered
    While you can't control which genes you pass on to your child, you do have some influence over which genes are expressed, affecting what features are seen in your baby (his phenotype). In fact, how what you eat, breathe, and even feel can affect the long-term health of your child.

    Stressors in the mother's environment cause a change in the gene expression patterns of the fetus. That means the chemicals your baby is exposed to in utero, via the foods you eat and the cigarettes you don't inhale, serve as biological light switches in your baby's development. On, off, on, off—you decide how your child's genes are expressed, even as early as conception.

    You don't have total control. We still don't know how you can change your baby's eye color, or when his hair falls out. But we do know how to influence some really important factors like your child's weight or intelligence. So there's an important reason why we're able to turn certain genes on and off. Our bodies have to adapt to a changing environment (that's how a species survives, after all). But our ability to adapt would be much too slow if we had to wait generations for our genes to change through random mutation (the classical theory of evolution).
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    Treatment of cystic fibrosis in children is much like treatment for adults with the condition, but possibly with additional concerns regarding poor growth and development due to malnutrition. If a child with cystic fibrosis is having difficulty gaining weight, or is found to have vitamin deficiencies, this can be treated with nutritional support.
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    A Thoracic Surgery (Cardiothoracic Vascular), answered on behalf of
    Children with cystic fibrosis typically experience repeated pulmonary infections. Since cystic fibrosis affects the glands that secrete sweat, they may also suffer from salt depletion while sweating during hot weather. Fever, cough, difficulty in breathing, fast respiration, flaring of the nostrils, poor appetite, and reduced activity are typical features of acute cystic fibrosis.
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    A , Cardiology (Cardiovascular Disease), answered
    What Is a Lung Transplant Like for Someone with Cystic Fibrosis?

    People with cystic fibrosis sometimes end up needing a lung transplant. In this video, Dr. Oz interviews a patient who needed a new set of lungs and the surgeon who performed her life-changing transplant surgery.