The following are health and medical definitions of terms that appear in the Fabry Disease article.
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
Cardiovascular system: The circulatory system which comprises the heart and blood vessels. The system 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 system
Chromosome: A visible carrier of the genetic information. See the entire definition of Chromosome
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.
Cornea: The clear front window of the eye that transmits and focuses light into the eye. See the entire definition of Cornea
Dialysis: The process of cleansing the blood by passing it through a special machine. Dialysis is necessary when the kidneys are not able to filter the blood. Dialysis allows patients with kidney failure a chance to live productive lives. There are two types of dialysis: hemodialysis and peritoneal dialysis. Each type of dialysis has advantages and disadvantages. Patients can often choose the type of long term dialysis that best matches their needs.
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
Enzyme replacement: A strategy designed to replace missing enzyme activity in a patient. This strategy currently involves the administration of a purified protein (the enzyme) by intravenous infusion.
Fabry disease: A genetic disease due to deficiency of the enzyme alpha-galactosidase A. This enzyme is essential to the metabolism of molecules known as glycosphingolipids. Without the enzyme, glycosphingolipids accumulate in the kidneys, heart, nerves and throughout the body. See the entire definition of Fabry disease
Fatty acids: Molecules that are long chains of lipid-carboxylic acid found in fats and oils and in cell membranes as a component of phospholipids and glycolipids. (Carboxylic acid is an organic acid containing the functional group -COOH.) See the entire definition of Fatty acids
Fever: Although a fever technically is any body temperature above the normal of 98.6 degrees F. (37 degrees C.), in practice a person is usually not considered to have a significant fever until the temperature is above 100.4 degrees F (38 degrees C.). See the entire definition of Fever
Gastrointestinal: Adjective referring collectively to the stomach and small and large intestines. See the entire definition of Gastrointestinal
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
Genetic: Having to do with genes and genetic information.
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 attack: The death of heart muscle due to the loss of blood supply. The loss of blood supply is usually caused by a complete blockage of a coronary artery, one of the arteries that supplies blood to the heart muscle. Death of the heart muscle, in turn, causes chest pain and electrical instability of the heart muscle tissue. See the entire definition of Heart attack
Hyperactivity: A higher than normal level of activity. An organ can be described as hyperactive if it is more active than usual. Behavior can also be hyperactive. See the entire definition of Hyperactivity
Kidney: One of a pair of organs located in the right and left side of the abdomen which clear "poisons" from the blood, regulate acid concentration and maintain water balance in the body by excreting urine. The kidneys are part of the urinary tract. The urine then passes through connecting tubes called "ureters" into the bladder. The bladder stores the urine until it is released during urination.
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. See the entire definition of Lipid
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).
Lipids: Another word for "fats." (Please see the various meanings of Fat.) Lipids can be more formally defined as substances 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. See the entire definition of Lipids
Metabolic: Relating to metabolism, the whole range of biochemical processes that occur within us (or any living organism). Metabolism consists of anabolism (the buildup of substances) and catabolism (the breakdown of substances). See the entire definition of Metabolic
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. See the entire definition of Mutation
Neurological: Having to do with the nerves or the nervous system.
Neurology: The medical specialty concerned with the diagnosis and treatment of disorders of the nervous system -- the brain, the spinal cord, and the nerves. See the entire definition of Neurology
NIH: The National Institutes of Health. The NIH is an important U.S. health agency. It is devoted to medical research. Administratively under the Department of Health and Human Services (HHS), the NIH consists of 20-some separate Institutes and Centers. NIH's program activities are represented by these Institutes and Centers. See the entire definition of NIH
NINDS: Stands for the National Institute of Neurological Disorders and Stroke, one of the National Institutes of Health in the U.S., whose mission is to "support and conduct research and research training on the normal structure and function of the nervous system and on the causes, prevention, diagnosis, and treatment of more than 600 nervous system disorders including stroke, epilepsy, multiple sclerosis, Parkinson's disease, head and spinal cord injury, Alzheimer's disease, and brain tumors."
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
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. See the entire definition of Prognosis
Stroke: The sudden death of some brain cells due to a lack of oxygen when the blood flow to the brain is impaired by blockage or rupture of an artery to the brain. A stroke is also called a cerebrovascular accident or, for short, a CVA. See the entire definition of Stroke
Sweating: The act of secreting fluid from the skin by the sweat (sudoriferous) glands. These are small tubular glands situated within and under the skin (in the subcutaneous tissue). They discharge by tiny openings in the surface of the skin. See the entire definition of Sweating
X chromosome: A sex chromosome found in both females and males. Normal females usually have two X chromosomes. Normal males usually have one X along with a Y chromosome. The complete chromosome complement consisting of 46 chromosomes is conventionally written as 46,XX for females and 46,XY for males. See the entire definition of X chromosome
Kidney failure can occur from an acute event or a chronic condition or disease. Prerenal kidney failure is caused by blood loss, dehydration, medication. Some of the renal causes of kidney failure are from sepsis, medications, rhabdomyolysis, multiple myeloma, and acute glomerulonephritis. Post renal causes of kidney failure include bladder obstruction, prostate problems, tumors, or kidney stones. Treatment options included diet, medications, or dialysis.
High blood pressure, also known as hypertension, is a repeatedly
elevated blood pressure exceeding 140 over 90 mmHg -- a systolic pressure above
140 with a diastolic pressure above 90. There are two causes of high blood pressure, primary and secondary. Primary high blood pressure is much more common that secondary and its basic causes or underlying defects are not always known. It is known that a diet high in salt increases the risk for high blood pressure, as well as high cholesterol. Genetic factors are also a primary cause. Secondary high blood pressure is generally caused by another condition such as renal hypertension, tumors, and other conditions. Treatment for high blood pressure is generally lifestyle changes and if necessary, diet.
A stroke results from impaired oxygen delivery to brain cells via the bloodstream. A stroke is also referred to as a CVA, or cerebrovascular incident. Symptoms of stroke include: sudden numbness or weakness of the face, arm or leg. Sudden confusion, trouble speaking or understanding. Sudden trouble seeing in one or both eyes, sudden trouble walking, dizziness, or loss of balance, and/or sudden severe headache with no known cause. A TIA, or transient ischemic attack is a short-lived temporary impairment of the brain caused by loss of blood supply. Stroke is a medical emergency.
Heart attack happens when a blood clot completely obstructs a coronary
artery supplying blood to the heart muscle. A heart attack can cause chest pain, heart failure, and electrical
instability of the heart.
Heart disease (coronary artery disease) is caused by a buildup of cholesterol deposits in the coronary arteries. Risk factors for heart disease include smoking, high blood pressure, heredity, diabetes, peripheral artery disease, and obesity. Symptoms include chest pain and shortness of breath. There are a variety of tests used to diagnose coronary artery disease. Treatment includes life-style changes, medications, procedures, or surgery.
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).
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.
A heart attack (also known as a myocardial infarction) is the death of heart
muscle from the sudden blockage of a coronary artery by a blood clot. Coronary
arteries are blood vessels that supply the heart muscle with blood and oxygen.
Blockage of a coronary artery deprives the heart muscle of blood and oxygen,
causing injury to the heart muscle. Injury to the heart muscle causes chest pain
and pressure. If blood flow is not restored within 20 to 40 minutes,
irreversible death of the heart muscle will begin to occur. Muscle continues to
die for six to eight hours at which time the heart attack usually is "complete." The
dead heart muscle is replaced by scar tissue.
Approximately one million Americans suffer a heart attack each year. Four
hundred thousand of them die as a result of their heart attack.
Click here
to view interactive photos of hearts that have suffered a heart attack.
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