The following are health and medical definitions of terms that appear in the Gaucher Disease article.
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).
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. See the entire definition of Anemia
Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes. See the entire definition of Autosomal
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. See the entire definition of Autosomal recessive
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."
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. See the entire definition of Cardiovascular
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. See the entire definition of Cell
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. See the entire definition of Enzyme
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. See the entire definition of Gaucher disease
Gene: The basic biological unit of heredity. A segment of deoxyribonucleic acid (DNA) needed to contribute to a function. See the entire definition of Gene
Genes: The basic biological units of heredity. Segments of deoxyribonucleic acid (DNA) needed to contribute to a function. See the entire definition of Genes
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. See the entire definition of Genetics
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. See the entire definition of Glucocerebrosidase deficiency
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. See the entire definition of Glucose
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. See the entire definition of Heart
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. See the entire definition of Hepatosplenomegaly
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. See the entire definition of Ichthyosis
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.
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. See the entire definition of Pain
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. See the entire definition of Recessive
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). See the entire definition of Red blood cells
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. See the entire definition of Spinal cord
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.
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. See the entire definition of Syndrome
Thrombocytopenia: A low platelet count. Platelets are irregular, disc-shaped element in the blood that assists in blood clotting. thrombocytopenia can arise due to decreased production of platelets in the bone marrow or increased breakdown of platelets in the bloodstream, spleen, or liver. Thrombocytopenia is characterized by easy bruising and increased bleeding.
Anemia is 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.
Arthritis is inflammation of one or more joints. When joints are inflamed they can develop stiffness, warmth, swelling, redness and pain. There are over 100 types of
arthritis including osteoarthritis, rheumatoid arthritis, ankylosing spondylitis, psoriatic arthritis, lupus, gout,
and pseudogout.
The spleen enlarges if it is asked to do excessive work in filtering or manufacturing blood cells, if there is abnormal blood flow to it, or if it is invaded with abnormal cells or deposits. Symptoms of an enlarged spleen may include weakness and fatigue, easy bleeding, and poor white blood cell function. Treatment of an enlarged spleen is focused toward the cause of the splenomegaly. Surgery may be required to remove the spleen.
Epilepsy is a brain disorder in which the person has seizures. There are two kinds of seizures, focal and generalized. There are many causes of epilepsy. Treatment of epilepsy (seizures) depends upon the cause and type of seizures experienced.
Fractures occur when bone cannot withstand the outside forces applied to the bone. Fractures can be open or closed. Types of fractures include: greenstick, spiral, comminuted, transverse, compound, or vertebral compression. Common fractures include: stress fracture, compression fracture, rib fracture, and skull fracture. Treatment depends upon the type of fracture.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Seizures are divided into two categories: generalized and partial. Generalized seizures are produced by electrical impulses from throughout the brain, while partial seizures are produced by electrical impulses in a small part of the brain. Seizure symptoms include unconsciousness, convulsions, and muscle rigidity.
Pregnancy planning is important to help prevent exposure of the mother and fetus to potentially harmful medications and substances during the early days, and throughout the pregnancy. Nutritional planning, prevention of birth defects, conditions such as high blood pressure, heart disease, diabetes, and kidney disease need careful monitoring. Gestational diabetes, preeclampsia, and pregnancy induced hypertension are conditions that may arise during pregnancy. Immunizations, inherited disorders, exercise, air travel, intercourse, and birth control are important factors to consider when planning a pregnancy.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
There are six types of generalized seizures. The most common and dramatic, and therefore the most well known, is the generalized convulsion, also called the grand-mal seizure. In this type of seizure, the patient loses consciousness and usually collapses. The loss of consciousness is followed by generalized body stiffening (called the "tonic" phase of the seizure) for 30 to 60 seconds, then by violent jerking (the "clonic" phase) for 30 to 60 seconds, after which the patient goes into a deep sleep (the "postictal" or after-seizure phase). During grand-mal seizures, injuries and accidents may occur, such as tongue biting and urinary incontinence.
Absence seizures cause a short loss of consciousness (just a few seconds) with few or no symptoms. The patient, most often a child, typically interrupts an activity and stares blankly. These seizures begin and end abruptly and may occur several times a day. Patients are usu...
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