Genetic Disorders and Birth Defects

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    AHealthwise answered

    Although cystic fibrosis generally follows certain patterns, each person's symptoms depend on what is happening with his or her mucus-producing cells. These kinds of cells are found throughout the body in many different organs and systems, including the:

    • Lungs and respiratory system. People with cystic fibrosis have thick and sticky mucus that traps bacteria. This causes lots of lung infections and often causes permanent lung damage.
    • Pancreas and digestive system. Mucus can interfere with how the pancreas works. This can make it hard for the child to absorb nutrients from food.
    • Sweat glands. You may notice that your child has unusually salty skin. Cystic fibrosis can cause a person to become easily dehydrated or to have very low salt levels.
    • Reproductive organs. Almost all men who have cystic fibrosis are unable to father a child. Women who have cystic fibrosis may have more difficulty getting pregnant than other women.
    • Skeletal system. People who have cystic fibrosis may have weaker bones than other people. This is because their bones contain lower levels of minerals. Weakened bones can lead to bone fractures, osteopenia, or osteoporosis. Cystic fibrosis can also cause swollen or painful joints (arthropathy or arthritis ). These problems are more common in adults than in children.
    Life expectancy

    The life expectancy for people with cystic fibrosis has been steadily increasing. On average, people who have cystic fibrosis live into their mid-to-late 30s. But new treatments are helping some people to live into their 40s and longer. People who have a mild form may have a normal life expectancy.

    There is no cure. But experts are hopeful that the discovery of the cystic fibrosis gene defect may soon lead to a cure.



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    AScripps Health answered

    There are two main sources of stem cells: embryonic stem cells and adult stem cells. Some clinical trials for heart disease use adult stem cells, which are found in bone marrow, fat and other tissues. Stem cells taken from a person’s own body are known as autologous stem cells; those donated by someone else are called allogeneic stem cells.

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    AHenry Lodge, MD, Internal Medicine, answered
    The proteins that control inflammation are called cytokines, and they regulate every aspect of your biology. Cytokines are messenger molecules. They turn on or off virtually all the metabolic pathways in each tissue and cell in your body. Each tissue has its own specific cytokines, but they cross-react to coordinate growth or decay throughout your body.

    Hundreds, perhaps even thousands, of cytokines are at work in your body, regulating growth and decay down to the most microscopic level.
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    AMehmet Oz, MD, Cardiology, 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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    AMichael Roizen, MD, Internal Medicine, answered
    Exercise can actually turn on specific genes to benefit your health and make your life better (less disease, less disability, more vigor). But it isn't your only tool for do-it-yourself genetic engineering. A diet devoid of unhealthy food felons, as well as stress management, keeps the disease-fighting and energy-giving genes turned on, too. Combine those with exercise and you can switch on a whopping 500 healthy genes. Here's how:
    • Aim for 30 minutes of exercise a day. The guys who walked or otherwise worked out for 30 minutes six days a week in addition to following a smart, produce-packed diet actually switched on hundreds of healthy genes after three months. Keep in mind that the benefits begin within minutes of your first move. You don't have to wait 'til you've lost weight or inches to get real health benefits.
    • Eat good-for-your-genes foods. That includes plenty of fruit, vegetables, and 100% whole grains, plus docosahexaenoic acid (DHA) omega-3 fatty acids, lean protein (e.g., soy or skinless chicken breast), and healthy protein, such as walnuts or macadamia nuts. A steady diet of full-fat dairy, red meat, sugar, syrups, and fried foods turn on energy-sapping, killer genes.
    • Relax and say ahhhh. Daily stress soothers, such as yoga, meditation, and calm breathing, are part of the good-gene prescription. You can substitute anything else that tames tension, from simple stretching to laughing with friends or family. No kidding! A venti latte's no replacement for a power walk, but it turns out that straight black coffee also switches on your good genes.
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    Human growth may be affected by heredity, gender, illness and medications, nutrition, hormones, and psychosocial environment, among other factors. A warning sign of a growth abnormality is below or above average height and/or weight. During the first year of life, an infant should grow an average of 7-10 inches. During the second year, a toddler will grow approximately five inches. During the third year, toddlers grow three inches on average. From age four years until puberty, growth should be at least two inches/year. During puberty, girls may grow 2.5-4.5 inches/year. Puberty occurs later in boys and is usually characterized by a growth of 3-5 inches/year. After puberty, there is little to no additional growth of bones.

    Growth problems may be genetic or acquired. Genetic growth abnormalities can be generally categorized as overgrowth disorders or undergrowth disorders. Overgrowth syndromes can be diagnosed by unusually large size at birth, excessive postnatal growth, and increased weight, increased length, and/or increased head circumference. There is an increased risk of cancer in a number of the overgrowth syndromes.

    Common overgrowth syndromes include Bannayan-Riley-Ruvalcaba syndrome, fragile X syndrome, gigantism, hemihyperplasia, Maffucci syndrome, neurofibromatosis, Proteus syndrome, and Weaver syndrome. A common cause of overgrowth syndromes is the overproduction of growth hormone by the pituitary gland before adolescence and a distinctive pattern of overgrowth called acromegaly.

    Undergrowth syndromes may be caused by musculoskeletal and metabolic diseases, including those that cause alterations in the skeleton. Examples of undergrowth syndromes include dwarfism, Ellis Van Creveld syndrome, and Russell Silver syndrome.

    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.

    Copyright © 2012 by Natural Standard Research Collaboration. All Rights Reserved.

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    Heartburn medications: If a baby with HPE has gastroesophageal reflux disease (GERD), a doctor may prescribe infant doses of medications commonly used to treat heartburn in adults. Commonly prescribed medications include H-2 blockers, such as cimetidine (Tagamet®) or ranitidine (Zantac®), or proton pump inhibitors, such as esomeprazole (Nexium®) or omeprazole (Prilosec®). Although these drugs are considered safe for use in infants and children with GERD, a 2006 study suggests that they may increase the risk of intestinal and respiratory infections in otherwise healthy children.

    Esophageal surgery: In some cases, the muscles in the esophagus that prevent food in the stomach from being regurgitated may need to be surgically tightened. This is typically only performed if GERD interferes with breathing or prevents growth in the baby. Complications of this surgery are serious and may include persistent gagging during feedings.

    Anticonvulsants: Medications, called anticonvulsants, may be used to treat epilepsy (a condition that causes seizures) in children with HPE. These drugs are typically taken once daily to help prevent seizures from occurring. Phenobarbital (Luminal® Sodium) is one of the oldest and safest anticonvulsants for children. Valproic acid (Depakene® or Depakote®) has also been shown to be a safe and effective treatment for seizures in children.

    Botulinum toxin (Botox®): Children with HPE who experience increased muscle tone that results in a tightening and shortening of muscles (called spasticity) may benefit from botulinum toxin (Botox®) injections. This drug is injected directly into spastic muscles in order to stop muscles from twitching. The effects of Botox® last several months. Some patients may have a severe allergic reaction to Botox. All over body swelling, difficulty swallowing and/or difficulty breathing are the most likely symptoms that an allergic reaction is occurring. Patients who experience any or all of these symptoms after a Botox® injection should have a person nearby call 911 immediately. Patients should not wait to see if the symptoms resolve or try to take themselves to the hospital.

    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.

    Copyright © 2012 by Natural Standard Research Collaboration. All Rights Reserved.

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    General: Children diagnosed with holoprosencephaly (HPE) may have a small head (called microcephaly), excessive fluid in the brain (hydrocephalus), variable degrees of intellectual disabilities (formerly called mental retardation), epilepsy (brain disorder that causes frequent seizures), craniofacial malformations, increased muscle tone that results in a tightening and shortening of muscles (called spasticity), sleeping disorders, hormonal disorders, or abnormalities of other organ systems, such as the heart, bones, genitourinary, and digestive systems.

    Facial malformations: Facial malformations, which range from mild to severe, are common among patients with HPE. The least severe malformations are typically seen in patients with lobar HPE, while alobar HPE is usually associated with the most severe abnormalities.

    Sleep disorders: Multiple studies have found that people with HPE often have sleep disorders, especially sleep apnea. Sleep apnea is a serious condition that occurs when a person stops breathing for short periods of time during sleep. Patients with HPE have an increased risk of experiencing obstructive sleep apnea because of their facial malformations. Since sleep apnea causes individuals to wake up frequently throughout the night, patients are often drowsy during the day. Other patients may have difficulty falling asleep.

    Intellectual disabilities: Most people born with HPE have intellectual disabilities (formerly called mental retardation), which range from mild to severe. Some people with lobar HPE, the mildest classic form of the disorder, have normal or near normal brain function.

    Gastrointestinal problems: People born with HPE typically have digestive problems, such as gastroesophageal reflux disease (GERD). This condition occurs when liquid from the stomach backs up (regurgitates) into the esophagus. This liquid may contain stomach acids and bile. In some cases, the regurgitated stomach liquid can cause inflammation (esophagitis), irritation, and damage to the esophagus. GERD is common among HPE patients because they often have weak esophageal muscles.

    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.

    Copyright © 2012 by Natural Standard Research Collaboration. All Rights Reserved.

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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.

    Copyright © 2012 by Natural Standard Research Collaboration. All Rights Reserved.

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    Natural treatments for cystic fibrosis (CF) include: Music therapy: Music is an ancient tool of healing that was recognized in the writings of Pythagoras, Aristotle, and Plato. Today, music is used to influence physical, emotional, cognitive, and social well-being, as well as to improve the quality of life for healthy, disabled, or sick people. It may involve either listening to or performing music, with or without the presence of a music therapist. Routine chest physiotherapy (CPT) is a component of preventative therapy in children with cystic fibrosis, which requires significant time and energy. There is some evidence that music therapy may be of benefit in children's tolerance and enjoyment of physiotherapy for cystic fibrosis. Music therapy is generally known to be safe.

    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.

    Copyright © 2012 by Natural Standard Research Collaboration. All Rights Reserved.