Chloride: The major anion (negatively charged substance) in the blood and extracellular fluid (the body fluid that lies outside cells). Blood and other body fluids have almost the same concentration of chloride ion as sea water. The balance of chloride ion (Cl-) is closely regulated by the body.
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Cystic fibrosis : One of the most common grave genetic (inherited) diseases, CF affects the exocrine glands and is characterized by the production of abnormal secretions, leading to mucous build-up.
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Diagnosis: 1 The nature of a disease ; the identification of an illness. 2 A conclusion or decision reached by diagnosis. The diagnosis is rabies . 3 The identification of any problem. The diagnosis was a plugged IV.
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False negative: A result that appears negative but fails to reveal a situation. An example of a false negative: a particular test designed to detect cancer of the toenail is negative but the person has toenail cancer.
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False positive: A result that is erroneously positive when a situation is normal. An example of a false positive: a particular test designed to detect cancer of the toenail is positive but the person does not have toenail cancer.
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Forearm: The portion of the upper limb from the elbow to the wrist.
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Gene: The basic biological unit of heredity . A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genetic: Having to do with genes and genetic information.
Genetic disease: A disease caused by an abnormality in an individual's genome .
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Infection: The growth of a parasitic organism within the body. (A parasitic organism is one that lives on or in another organism and draws its nourishment therefrom.) A person with an infection has another organism (a "germ") growing within him, drawing its nourishment from the person.
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Iontophoresis: A transdermal delivery system in which a substance bearing a charge is propelled through the skin by a low electrical current. This method can be used to drive a drug across the skin barrier, as is done with pilocarpine to stimulate sweating in the sweat chloride test for cystic fibrosis. Iontophoresis can also be used in the reverse direction to draw a molecule such as glucose through the skin.
Lethal: Deadly, fatal, capable of causing death, death-dealing. The word "lethal" comes from the Latin "letum" meaning "death or destruction."
Lipid: Another word for "fat." (Please see the various meanings of Fat .) A lipid is more formally defined as a substance such as a fat, oil or wax that dissolves in alcohol but not in water. Lipids contain carbon, hydrogen and oxygen but have far less oxygen proportionally than carbohydrates .
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Lipid storage diseases: A series of disorders due to inborn errors in lipid metabolism resulting in the abnormal accumulation of lipids in the wrong places (Examples include Gaucher, Fabry and Niemann-Pick diseases and metachromatic leukodystrophy).
Liter: A metric measure of capacity that, by definition, is equal to the volume of a kilogram of water at 4 degrees centigrade and at standard atmospheric pressure of 760 millimeters of mercury. - Metric equivalents -- There are 1000 cubic centimeters or 1 cubic decimeter in 1 liter.
- U.S. equivalent -- A liter is a little more than a quart (1.057 U.S. liquid quarts).
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Malnutrition: A term used to refer to any condition in which the body does not receive enough nutrients for proper function. Malnutrition may range from mild to severe and life-threatening. It can be a result of starvation, in which a person has an inadequate intake of calories, or it may be related to a deficiency of one particular nutrient (for example, vitamin C deficiency). Malnutrition can also occur because a person can not properly digest or absorb nutrients from the food they consume, as may occur with certain medical conditions. Malnutrition remains a significant global problem, especially in developing countries.
Pancreas: A fish-shaped spongy grayish-pink organ about 6 inches (15 cm) long that stretches across the back of the abdomen, behind the stomach. The head of the pancreas is on the right side of the abdomen and is connected to the duodenum (the first section of the small intestine). The narrow end of the pancreas, called the tail, extends to the left side of the body.
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Pituitary: 1. As an adjective, pertaining to the pituitary gland or its hormonal secretions. 2. As a noun, the pituitary gland itself.
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Recurrent: Back again. A recurrent fever is a fever that has returned after an intermission: a recrudescent fever.
Respiratory: Having to do with respiration, the exchange of oxygen and carbon dioxide. From the Latin re- (again) + spirare (to breathe) = to breathe again.
Sodium: The major positive ion (cation) in fluid outside of cells. The chemical notation for sodium is Na+. When combined with chloride, the resulting substance is table salt.
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Sweat: A colorless transparent acidic fluid with a distinctive odor secreted by the small tubular sudoriferous (sweat) glands situated within the skin and under it in the subcutaneous tissue . The sweat glands discharge their fluid through tiny openings in the surface of the skin.
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Sweat chloride test: A test for cystic fibrosis. See: Sweat test.
Thyroid: 1. The thyroid gland . Also, pertaining to the thyroid gland. 2. A preparation of the thyroid gland used to treat hypothyroidism . 3. Shaped like a shield. (The thyroid gland was so-named by Thomas Wharton in 1656 because it was shaped like an ancient Greek shield.)
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Toddler: A young child who is learning to walk with short unsteady steps. The word toddle is of unknown origin.
- Cystic Fibrosis - Read about cystic fibrosis, a genetic disease of the mucus and sweat glands. Symptoms include bulky, foul smelling stools, abdominal pain, gas, malnutrition, and respiratory failure.
- Genetic Disease - Learn about genetic disease caused by abnormalities in an individual's genome. There are four types of genetic inheritance, single, multifactoral, chromosome abnormalities, and mitochondrial inheritance. Genetic testing is available for some genetic diseases.
- Genetic Counseling - Read about genetic counceling, what it is, who should receive genetic counceling, and resources such as how to find a genetic councelor for a particular disease or condition.
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