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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    There is currently no known method of prevention for cystic fibrosis (CF) because the condition is genetically inherited.

    Patients who have cystic fibrosis may wish to receive genetic counseling to learn about the risk of passing the disease onto their children.

    You should read product labels, and discuss all therapies with a qualified healthcare provider. Natural Standard information does not constitute medical advice, diagnosis, or treatment.



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    General: Symptoms of cystic fibrosis (CF) vary among patients. Some patients may experience severe symptoms that affect the lungs as well as the digestive and reproductive systems. Others may experience milder symptoms that affect less parts of the body. In some cases, patients may experience more or less severe symptoms as they age.

    Newborns: In newborns, the first sign of CF may be blockage of the intestines. Healthy babies normally pass greenish-black stools, called meconium, during their first couple days of life. However, if the infant has CF, the meconium may be too thick to move through the intestines. Other signs and symptoms may include oily stools, failure to grow, and frequent lung infections.

    Children and adults: Children and adults typically have increased amounts of salt in their sweat. Parents may taste the salt when they kiss their children's skin. Other symptoms may include oily stools, thick sputum, coughing, difficulty breathing, and wheezing. Patients often suffer from blocked bowels, which may lead to protrusion of part of the rectum through the anus.

    Because CF patients experience difficulty breathing, almost all patients eventually experience enlargement or rounding of the fingertips or toes (clubbing). This happens when there is not enough oxygen in the blood.

    Less common symptoms: Less common symptoms may include abnormal growths (polyps) in the nasal passageway and cirrhosis of the liver that is caused by inflammation or obstruction of the bile ducts. Children who are older than four years old may experience displacement of one part of the intestine into another.

    You should read product labels, and discuss all therapies with a qualified healthcare provider. Natural Standard information does not constitute medical advice, diagnosis, or treatment.



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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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    Bleeding in the lungs: Cystic fibrosis (CF) patients may develop bleeding in the lungs called hemoptysis. When this happens, patients typically cough up blood in their sputum. Patients should visit their healthcare providers as soon as possible if this occurs.

    Cirrhosis: The thick secretions in the digestive tract may block the tube that carries bile from the liver and gallbladder into the small intestine. This may lead to inflammation and scarring (cirrhosis) of the liver.

    Diabetes: The thick secretions in the digestive tract may block the tubes near the pancreas. The pancreas is an important organ because it produces insulin, which regulates the amount of sugar in the blood. As a result, CF patients have an increased risk of developing diabetes. An estimated 20% of CF patients develop CF-related diabetes.

    Heart failure: CF may eventually cause the lower right chamber of the heart to fail. This condition is almost always fatal.

    Lung infections: CF patients suffer from frequent lung infections, including pneumonia, sinusitis, bronchitis, and bronchiectasis. Lung infections may be fatal. These infections occur because the thick mucus in the airways is an ideal environment for disease-causing microorganisms, such as bacteria, to grow.

    Nutritional deficiencies: Most patients with CF suffer from nutritional deficiencies. This is because the thick secretions in the digestive tract prevent the pancreatic enzymes from reaching the intestine. The pancreatic enzymes are needed for the body to digest fats and proteins. Poor nutrition may lead to short stature, especially in children, as well as weight loss.

    The thick secretions also prevent the body from absorbing important vitamins, including vitamins A, D, E, and K.

    Respiratory failure: CF patients may develop respiratory failure. This occurs when the body is no longer able to supply the muscles and tissues with enough oxygen. This condition is fatal, unless treated with a lung transplant.

    You should read product labels, and discuss all therapies with a qualified healthcare provider. Natural Standard information does not constitute medical advice, diagnosis, or treatment.



    For more information visit https://naturalmedicines.therapeuticresearch.com/
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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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    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 , 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.

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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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    Cystic fibrosis is the most common lung disease that requires transplantation in children. It is a genetic disease caused by a defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Children with cystic fibrosis have thick, sticky mucus in their lungs that block small airways and causes chronic infections. Most children with cystic fibrosis also have abnormalities in their pancreas leading to poor absorbing of fats and vitamins.

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