Abnormal: Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer ).
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Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes.
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Autosomal dominant: A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. (In contrast, autosomal recessive diseases require that the individual have two copies of the mutant gene.) Individuals with autosomal dominant diseases have a 50-50 chance of passing the mutant gene and therefore the disorder onto each of their children. Examples of autosomal dominant diseases include Huntington disease, neurofibromatosis, and polycystic kidney disease.
Bilirubin: A yellow-orange compound produced by the breakdown of hemoglobin from red blood cells.
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Blood: The familiar red fluid in the body that contains white and red blood cells, platelets, proteins, and other elements. The blood is transported throughout the body by the circulatory system. Blood functions in two directions: arterial and venous. Arterial blood is the means by which oxygen and nutrients are transported to tissues while venous blood is the means by which carbon dioxide and metabolic by-products are transported to the lungs and kidneys, respectively, for removal from the body.
Chromosome: A visible carrier of the genetic information.
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Chromosome 2: The second largest chromosome in the human genome . Chromosome 2 contains over 240 million base pairs and more than 2500 genes , including the ETM2 gene for essential tremor , the MSH2 and MSH6 genes for colon cancer , and the PAX3 gene for Waardenburg syndrome .
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Condition: The term "condition" has a number of biomedical meanings including the following: - An unhealthy state, such as in "this is a progressive condition."
- A state of fitness, such as "getting into condition."
- Something that is essential to the occurrence of something else; essentially a "precondition."
- As a verb: to cause a change in something so that a response that was previously associated with a certain stimulus becomes associated with another stimulus; to condition a person, as in behavioral conditioning.
Dehydration : Excessive loss of body water. Diseases of the gastrointestinal tract that cause vomiting or diarrhea may, for example, lead to dehydration. There are a number of other causes of dehydration including heat exposure, prolonged vigorous exercise (e.g., in a marathon), kidney disease, and medications (diuretics).
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Dominant: A genetic trait is considered dominant if it is expressed in a person who has only one copy of that gene. (In genetic terms, a dominant trait is one that is phenotypically expressed in heterozygotes).
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Enzyme: A protein (or protein-based molecule) that speeds up a chemical reaction in a living organism. An enzyme acts as catalyst for specific chemical reactions , converting a specific set of reactants (called substrates) into specific products. Without enzymes, life as we know it would not exist.
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Enzymes: Proteins that act as a catalysts in mediating and speeding a specific chemical reaction .
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Essential: 1. Something that cannot be done without.
2. Required in the diet, because the body cannot make it. As in an essential amino acid or an essential fatty acid.
3. Idiopathic. As in essential hypertension. "Essential" is a hallowed term meaning "We don't know the cause."
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.
Gilbert syndrome : A common but harmless genetic condition in which a liver enzyme essential to the disposal of bilirubin (the chemical that results from the normal breakdown of hemoglobin from red blood cells) is abnormal.
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Hemoglobin: The oxygen-carrying pigment and predominant protein in the red blood cells . Hemoglobin forms an unstable, reversible bond with oxygen. In its oxygenated state it is called oxyhemoglobin and is bright red. In the reduced state it is called deoxyhemoglobin and is purple-blue.
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Hyperbilirubinemia: An elevated level of the pigment bilirubin in the blood. A sufficient elevation will produce jaundice. Some degree of hyperbilirubinemia is very common in babies right after birth, especially premies.
Jaundice: Yellow staining of the skin and sclerae (the whites of the eyes) by abnormally high blood levels of the bile pigment bilirubin . The yellowing extends to other tissues and body fluids. Jaundice was once called the "morbus regius" (the regal disease) in the belief that only the touch of a king could cure it.
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Liver: An organ in the upper abdomen that aids in digestion and removes waste products and worn-out cells from the blood. The liver is the largest solid organ in the body. The liver weighs about three and a half pounds (1.6 kilograms). It measures about 8 inches (20 cm) horizontally (across) and 6.5 inches (17 cm) vertically (down) and is 4.5 inches (12 cm) thick.
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Mutation: A permanent change, a structural alteration, in the DNA or RNA . In humans and many other organisms, mutations occur in DNA. However, in retroviruses like HIV , mutations occur in RNA which is the genetic material of retroviruses.
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Pigment: A substance that gives color to tissue. Pigments are responsible for the color of skin, eyes, and hair.
Prognosis: 1. The expected course of a disease .
2. The patient's chance of recovery.
The prognosis predicts the outcome of a disease and therefore the future for the patient . His prognosis is grim, for example, while hers is good.
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Serum: The clear liquid that can be separated from clotted blood. Serum differs from plasma, the liquid portion of normal unclotted blood containing the red and white cells and platelets. It is the clot that makes the difference between serum and plasma.
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Syndrome: A set of signs and symptoms that tend to occur together and which reflect the presence of a particular disease or an increased chance of developing a particular disease.
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UDP-glucuronosyltransferase: A liver enzyme essential to the disposal of bilirubin (the chemical that results from the normal breakdown of hemoglobin from red blood cells).
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