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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Anemia: The condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased.
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Arthritis: Inflammation of a joint. When joints are inflamed they can develop stiffness, warmth, swelling, redness and pain. There are over 100 types of arthritis. (see osteoarthritis, rheumatoid arthritis, ankylosing spondylitis, psoriatic arthritis, lupus, gout, pseudogout).
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 recessive: A genetic condition that appears only in individuals who have received two copies of an autosomal gene , one copy from each parent. The gene is on an autosome , a nonsex chromosome . The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene.
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Brain: That part of the central nervous system that is located within the cranium ( skull ). The brain functions as the primary receiver, organizer and distributor of information for the body. It has two (right and left) halves called "hemispheres."
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Cardiovascular: The circulatory system comprising the heart and blood vessels which carries nutrients and oxygen to the tissues of the body and removes carbon dioxide and other wastes from them.
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Cell: The basic structural and functional unit in people and all living things. Each cell is a small container of chemicals and water wrapped in a membrane .
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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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Gaucher disease: A series of 5 diseases due to deficient activity of the enzyme glucocerebrosidase, leading to accumulation of glucocerebroside in tissues of the body. The 5 types of Gaucher disease encompass a continuum of clinical findings from a lethal form before or just after birth to a form so mild that it may not be diagnosed until old age. All 5 types of Gaucher disease are inherited in an autosomal recessive manner.
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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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Genes: The basic biological units of heredity . Segments of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genetic: Having to do with genes and genetic information.
Genetics: The scientific study of heredity . Genetics pertains to humans and all other organisms. So, for example, there is human genetics, mouse genetics, fruitfly genetics, etc.
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Glucocerebrosidase deficiency: Causes type 1 Gaucher disease , a progressive genetic disease due to an enzyme defect. The enzyme, glucocerebrosidase, is needed to break down the chemical glucocerebroside. The enzyme defect leads to the progressive accumulation of glucocerebroside in the spleen , liver , and lymph nodes . Gaucher disease is the most common genetic disease in Ashkenazi Jews (those of European origin) and in American and Canadian Jews.
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Glucose: The simple sugar (monosaccharide) that serves as the chief source of energy in the body. Glucose is the principal sugar the body makes. The body makes glucose from proteins, fats and, in largest part, carbohydrates. Glucose is carried to each cell through the bloodstream. Cells, however, cannot use glucose without the help of insulin . Glucose is also known as dextrose.
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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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Heart valves: There are four heart valves. All are one-way valves. Blood entering the heart first passes through the tricuspid valve and then the pulmonary valve. After returning from the lungs, the blood passes through the mitral (bicuspid) valve and exits via the aortic valve.
Hepatosplenomegaly:Enlargement of the liver and spleen. The word "hepatosplenomegaly" is compounded from Greek roots: "hepato-" from "hepatikos" (of the liver) + "spleno" from "splen" (the spleen) + "megaly" from "megas" (big or great) = bigness of the liver and spleen.
Histiocytosis: A rare but potentially deadly disorder with similarities to cancer, in which histiocytes start to multiply and attack the person's own tissues or organs. The result can be tissue damage, pain, development of tumor-like lumps called granulomas, fatigue, and other symptoms. If histiocytosis affects the pituitary gland, diabetes insipidus may also develop. Treatment is by radiation and chemotherapy, although for reasons unknown, some cases go into remission without treatment.
Hydrops fetalis: Gross edema (swelling), usually with anemia, of the fetus. It can be due to Rh blood group incompatibility, in which antibodies crossing the placenta from the mother destroy the red blood cells of the fetus. It can also be caused by a lethal form of the genetic disorder thalassemia, alpha thalassemia, in which alpha-chain polypeptides needed to make fetal or adult hemoglobin are not produced. See also Rh incompatibility; thalassemia, alpha.
Ichthyosis: Dry, rectangular scales on the skin. Like fish scales. From the Greek "ichthys" meaning fish.
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Lethal: Deadly, fatal, capable of causing death, death-dealing. The word "lethal" comes from the Latin "letum" meaning "death or destruction."
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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Molecule: The smallest unit of a substance that can exist alone and retain the character of that substance.
Neurological: Having to do with the nerves or the nervous system.
Pain: An unpleasant sensation that can range from mild, localized discomfort to agony. Pain has both physical and emotional components. The physical part of pain results from nerve stimulation. Pain may be contained to a discrete area, as in an injury, or it can be more diffuse, as in disorders like fibromyalgia . Pain is mediated by specific nerve fibers that carry the pain impulses to the brain where their conscious appreciation may be modified by many factors.
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Perinatal: Pertaining to the period immediately before and after birth. The perinatal period is defined in diverse ways. Depending on the definition, it starts at the 20th to 28th week of gestation and ends 1 to 4 weeks after birth. The word "perinatal" is a hybrid of the Greek "peri-" meaning "around or about" and "natal" from the Latin "natus" meaning "born."
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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Red blood cells: The blood cells that carry oxygen. Red cells contain hemoglobin and it is the hemoglobin which permits them to transport oxygen (and carbon dioxide). Hemoglobin, aside from being a transport molecule, is a pigment. It gives the cells their red color (and their name).
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Spinal cord: The major column of nerve tissue that is connected to the brain and lies within the vertebral canal and from which the spinal nerves emerge. Thirty-one pairs of spinal nerves originate in the spinal cord: 8 cervical , 12 thoracic , 5 lumbar, 5 sacral, and 1 coccygeal. The spinal cord and the brain constitute the central nervous system ( CNS ). The spinal cord consists of nerve fibers that transmit impulses to and from the brain. Like the brain, the spinal cord is covered by three connective-tissue envelopes called the meninges . The space between the outer and middle envelopes is filled with cerebrospinal fluid ( CSF ), a clear colorless fluid that cushions the spinal cord against jarring shock. Also known simply as the cord.
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Spleen: An organ located in the upper left part of the abdomen near the stomach . The spleen produces lymphocytes ; it is the largest lymphatic organ in the body. The spleen also filters the blood, serves as a major reservoir for blood and destroys blood cells that are aged.
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Splenomegaly: Enlargement of the spleen.
Substance: 1. Material with particular features, as a pressor substance.
2. The material that makes up an organ or structure. Also known in medicine as the substantia.
3. A psychoactive drug as, for example, in substance abuse.
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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- imiglucerase-injection, Cerezyme - Consumer information about the medication IMIGLUCERASE - INJECTION (Cerezyme), includes side effects, drug interactions, recommended dosages, and storage information. Read more about the prescription drug IMIGLUCERASE - INJECTION.
- Anemia - Read about anemia (low blood cell count, low hemoglobin) causes like iron deficiency, stomach ulcers, medications, colon cancer, trauma, vitamin 12 or folate deficiency, leukemia, myltiple myeloma and more.
- Arthritis - Arthritis symptoms include pain, joint inflammation and swelling. Get the facts on arthritis types, causes, research information, statistics and diagnosis.
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