Genetic Disorders and Birth Defects

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    A Michael 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.



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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.



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

    Copyright © 2014 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.



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

    Copyright © 2014 by Natural Standard Research Collaboration. All Rights Reserved.

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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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