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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Angioid streaks: Tiny breaks in the elastin-filled tissue in the back of the eye (retinae). These abnormalities are visible to the doctor during an examination using a viewing instrument called an ophthalmoscope. Angioid streaks are seen in patients with pseudoxanthoma elasticum (abbreviated PXE), a rare disorder of degeneration of the elastic fibers with tiny areas of calcification in the skin, back of the eyes (retinae), and blood vessels. Angioid streaks can be associated with blindness.
Atherosclerosis: A process of progressive thickening and hardening of the walls of medium-sized and large arteries as a result of fat deposits on their inner lining.
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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.
Blindness: Loss of useful sight. Blindness can be temporary or permanent. Damage to any portion of the eye, the optic nerve, or the area of the brain responsible for vision can lead to blindness. There are numerous (actually, innumerable) causes of blindness. The current politically correct terms for blindness include visually handicapped and visually challenged.
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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.
Bone: Bone is the substance that forms the skeleton of the body. It is composed chiefly of calcium phosphate and calcium carbonate . It also serves as a storage area for calcium, playing a large role in calcium balance in the blood.
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Bowel: Another name for the intestine . The small bowel and the large bowel are the small intestine and large intestine , respectively.
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Calcification: The process of building bone by suffusing tissues with calcium salts. Also called ossification.
Circulation: The movement of fluid in a regular or circuitous course. Although the noun "circulation" does not necessarily refer to the circulation of the blood, for all practical purposes today it does. Heart failure is an example of a problem with the circulation.
Claudication : Limping. The word "claudication" comes from the Latin "claudicare" meaning to limp. The Roman emperor Claudius (who ruled from A.D. 41-54) was so named because he limped, probably because of a birth defect.
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Collagen: Collagen is the principal protein of the skin, tendons, cartilage, bone and connective tissue.
Cure: 1. To heal, to make well, to restore to good health. Cures are easy to claim and, all too often, difficult to confirm.
2. A time without recurrence of a disease so that the risk of recurrence is small, as in the 5-year cure rate for malignant melanoma .
3. Particularly in the past, a course of treatment. For example, take a cure at a spa.
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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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Elastin: A protein that coil and recoils like a spring within the elastic fibers of connective tissue and accounts for the elasticity of structures such the skin, blood vessels, heart, lungs, intestines, tendons, and ligaments. Elastin functions in connective tissue together with collagen. Whereas elastin provides elasticity, collagen provides rigidity to connective tissue. Elastin is normally no longer made after puberty and aging begins. Also called elasticin.
Eye: The organ of sight. The eye has a number of components. These components include but are not limited to the cornea, iris, pupil, lens, retina, macula, optic nerve, choroid and vitreous.
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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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Health: As officially defined by the World Health Organization, a state of complete physical, mental, and social well-being, not merely the absence of disease or infirmity.
Heart: The muscle that pumps blood received from veins into arteries throughout the body. It is positioned in the chest behind the sternum (breastbone; in front of the trachea, esophagus, and aorta; and above the diaphragm muscle that separates the chest and abdominal cavities. The normal heart is about the size of a closed fist, and weighs about 10.5 ounces. It is cone-shaped, with the point of the cone pointing down to the left. Two-thirds of the heart lies in the left side of the chest with the balance in the right chest.
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Inheritance: Not something that is contained in a will, but rather a gene, chromosome or genome that is transmitted from parent to child.
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Injury: Harm or hurt. The term "injury" may be applied in medicine to damage inflicted upon oneself as in a hamstring injury or by an external agent on as in a cold injury. The injury may be accidental or deliberate, as with a needlestick injury. The term "injury" may be synonymous (depending on the context) with a wound or with trauma.
Mitral valve: A valve in the heart situated between the left atrium and the left ventricle that permits blood to flow from the left atrium into the left ventricle but not in the reverse direction.
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Mitral valve prolapse : Drooping down or abnormal bulging of the mitral valve's cusps backward into the atrium during the contraction of the heart. Mitral valve prolapse is often an asymptomatic condition but it may be marked by mitral regurgitation with symptoms (as chest pain, fatigue, dizziness, dyspnea, or palpitations) with a tendency in some cases to endocarditis or ventricular tachycardia.
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Neck: The part of the body joining the head to the shoulders. Also, any narrow or constricted part of a bone or organ that joins its parts as, for example, the neck of the femur bone.
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Organ: A relatively independent part of the body that carries out one or more special functions. The organs of the human body include the eye, ear, heart, lungs, and liver.
Protein: A large molecule composed of one or more chains of amino acids in a specific order determined by the base sequence of nucleotides in the DNA coding for the protein.
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Pseudoxanthoma elasticum: (Abbreviated PXE). A genetic disorder characterized by degeneration of elastic fibers and tiny areas of calcification in the skin, back of the eyes (retinae), and blood vessels. PXE can be inherited as an autosomal dominant or recessive trait and can occur sporadically in the absence of a family history of the disease. Small yellow-white raised areas appear in the skin folds in the second or third decades of life on the neck, armpits, and other areas that bend a great deal (flexure areas). The doctor may see abnormalities in the back of the eye called angioid streaks, tiny breaks in the elastin-filled tissue that can lead to blindness. The heart can be affected by atherosclerosis and mitral valve prolapse. Small blood vessels are abnormally fragile because the blood-vessel walls contain elastin. This can lead to abnormal bleeding in the bowel and, very rarely, the uterus. Impairment of circulation to the legs can lead to pains in the legs while walking (claudication). The dominant and recessive forms of PXE as well as the sporadic cases of PXE are all caused by mutations in the ABCC6 gene located on chromosome 16p13.1.
PXE: See pseudoxanthoma elasticum.
Recessive: A condition that appears only in individuals who have received two copies of a mutant gene, one copy from each parent. The individuals with a double dose of the mutated gene are called homozygotes. Their parents, each with a single dose of the mutated gene, appear normal and are called heterozygotes, or gene carriers.
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Skin: The skin is the body's outer covering. It protects us against heat and light, injury, and infection. It regulates body temperature and stores water, fat, and vitamin D. Weighing about 6 pounds, the skin is the body's largest organ. It is made up of two main layers; the outer epidermis and the inner dermis.
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Tissue: A tissue in medicine is not like a piece of tissue paper. It is a broad term that is applied to any group of cells that perform specific functions. A tissue in medicine need not form a layer. Thus, - The bone marrow is a tissue;
- Connective tissue consists of cells that make up fibers in the framework supporting other body tissues; and
- Lymphoid tissue is the part of the body's immune system that helps protect it from bacteria and other foreign entities.
Trait: In genetics, a trait refers to any genetically determined characteristic. In technical terms, a genetic trait is amenable to segregation analysis rather than quantitative analysis.
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Uterus: The uterus (womb) is a hollow, pear-shaped organ located in a woman's lower abdomen between the bladder and the rectum. The narrow, lower portion of the uterus is the cervix; the broader, upper part is the corpus. The corpus is made up of two layers of tissue.
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Vessel: A tube in the body that carries fluids: blood vessels or lymph vessels.
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