Acidosis: Too much acid in the body, a distinctly abnormal condition resulting from the accumulation of acid or from the depletion of alkaline reserves. In acidosis, the pH of the blood is abnormally low. Acidosis is associated with diabetic ketoacidosis, lung disease, and severe kidney disease. The opposite of acidosis is alkalosis in which there is too high a pH due to excess base or insufficient acid in the body.
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).
Asthma : A common disorder in which chronic inflammation of the bronchial tubes (bronchi) makes them swell, narrowing the airways. Asthma involves only the bronchial tubes and does not affect the air sacs ( alveoli ) or the lung tissue (the parenchyma of the lung) itself.
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Atrophy: Wasting away or diminution. Muscle atrophy is wasting of muscle, decrease in muscle mass.
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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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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.
Blood pressure: The blood pressure is the pressure of the blood within the arteries. It is produced primarily by the contraction of the heart muscle. It's measurement is recorded by two numbers. The first (systolic pressure) is measured after the heart contracts and is highest. The second (diastolic pressure) is measured before the heart contracts and lowest. A blood pressure cuff is used to measure the pressure. Elevation of blood pressure is called "hypertension".
Breast : The breast refers to the front of the chest or, more specifically, to the mammary gland. The mammary gland is a milk producing gland. It is composed largely of fat. Within the mammary gland is a complex network of branching ducts. These ducts exit from sac-like structures called lobules, which can produce milk in females. The ducts exit the breast at the nipple.
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Breast cancer: Breast cancer is diagnosed with self- and physician-examination of the breasts, mammography, ultrasound testing, and biopsy. There are many types of breast cancer that differ in their capability of spreading to other body tissues (metastasis). Treatment of breast cancer depends on the type and location of the breast cancer, as well as the age and health of the patient. The American Cancer Society recommends that a woman should have a baseline mammogram between the ages of 35 and 40 years. Between 40 and 50 years of age mammograms are recommended every other year. After age 50 years, yearly mammograms are recommended.
Cancer: An abnormal growth of cells which tend to proliferate in an uncontrolled way and, in some cases, to metastasize (spread).
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Cat cry syndrome: A disorder caused by the loss of part of the short (p) arm from chromosome 5. Also called the cri du chat (or cri-du-chat) syndrome.
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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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Chromosome: A visible carrier of the genetic information.
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Chromosomes: The microscopically visible carriers of the genetic material. They are composed of deoxyribonucleic acid (DNA) and proteins and, under a microscope, look like little rods.
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Chronic: This important term in medicine comes from the Greek chronos, time and means lasting a long time.
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Cystic fibrosis : One of the most common grave genetic (inherited) diseases, CF affects the exocrine glands and is characterized by the production of abnormal secretions, leading to mucous build-up.
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Cytoplasm: All of the substance of a cell outside of the nucleus. The cytoplasm contains a number of different types organelles such as the mitochondria.
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Dementia : Significant loss of intellectual abilities such as memory capacity, severe enough to interfere with social or occupational functioning.
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Diabetes: Refers to diabetes mellitus or, less often, to diabetes insipidus . Diabetes mellitus and diabetes insipidus share the name "diabetes" because they are both conditions characterized by excessive urination (polyuria).
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Disease: Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.
DNA: Deoxyribonucleic acid. One of two types of molecules that encode genetic information. (The other is RNA . In humans DNA is the genetic material; RNA is transcribed from it. In some other organisms, RNA is the genetic material and, in reverse fashion, the DNA is transcribed from it.)
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DNA sequence: The precise ordering of the bases (A,T,G,C) from which the DNA is composed.
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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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Epilepsy (seizure disorder): When nerve cells in the brain fire electrical impulses at a rate of up to four times higher than normal, this causes a sort of electrical storm in the brain, known as a seizure. A pattern of repeated seizures is referred to as epilepsy. Known causes include head injuries, brain tumors, lead poisoning, maldevelopment of the brain, genetic and infectious illnesses. But in fully half of cases, no cause can be found. Medication controls seizures for the majority of patients.
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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Eye color: The color of the iris. The genetics of eye color are complicated. Eye color is polygenic. It is determined by multiple genes. The eye color genes include EYCL1 (a green/blue eye color gene located on chromosome 19), EYCL2 (a brown eye color gene) and EYCL3 (a brown/blue eye color gene located on chromosome 15). There are clearly other genes that influence eye color. The once-held view that blue eye color is a simple recessive trait has been shown to be wrong. The genetics of eye color are so complex that almost any parent-child combination of eye colors can occur.
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Fingerprint: 1. The characteristic dermal ridges on the finger. This is the original meaning of fingerprint. 2. The characteristic pattern of the peptide fragments of a protein that have been subjected to electrophoresis and, at a right angle, chromatography. Peptide fingerprinting was invented by Vernon Ingram in 1957. 3. The characteristic pattern of DNA fragments identified by Southern hybridization or by PCR (polymerase chain reaction). DNA fingerprinting was invented by Alec Jeffreys in 1984.
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.
Genetic disease: A disease caused by an abnormality in an individual's genome .
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Genome: All of the genetic information, the entire genetic complement, all of the hereditary material possessed by an organism.
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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 disease: Any disorder that affects the heart. Sometimes the term "heart disease" is used narrowly and incorrectly as a synonym for coronary artery disease. Heart disease is synonymous with cardiac disease but not with cardiovascular disease which is any disease of the heart or blood vessels. Among the many types of heart disease, see, for example: Angina; Arrhythmia; Congenital heart disease; Coronary artery disease (CAD); Dilated cardiomyopathy; Heart attack (myocardial infarction); Heart failure; Hypertrophic cardiomyopathy; Mitral regurgitation; Mitral valve prolapse; and Pulmonary stenosis.
Hemochromatosis: Hemochromatosis (iron overload) is an inherited disorder in how the body absorbs and stores iron. The excess iron gives the skin a bronze color and damages the liver and other organs. Diabetes is also a part of the syndrome due to damage to the pancreas.
Heritable: Capable of being transmitted from parent to child.
High blood pressure : Also known as hypertension, high blood pressure is, by definition, a repeatedly elevated blood pressure exceeding 140 over 90 mmHg -- a systolic pressure above 140 with a diastolic pressure above 90.
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Human genome: All of the DNA that a person possesses. The human genome is made up of all of the DNA in our chromosomes as well as that in our mitochondria . (Each of us has, in fact, two genomes -- a large chromosomal genome and a much smaller mitochondrial genome .) Our genome also includes every gene we own plus all of our junk DNA The human genome is both "the treasury of human inheritance" and a vast dump (or recycling center).
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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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Klinefelter syndrome: A chromosome condition in boys and men that is usually due to 47 chromosomes with XXY sex chromosomes. XXY is one of the most common chromosomal abnormalities. It occurs in 1 in 500 male births. Because it is so common, Klinefelter syndrome is considered an SCV (sex chromosome variation).
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Lactic acidosis: Acidosis (too much acid in the body) due to the buildup of lactic acid in the body. Lactic acidois occurs when cells make lactic acid (from glucose ) faster than it can be metabolized. The key signs of lactic acidosis include unusually deep and rapid breathing , vomiting, and abdominal pain .
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Marfan syndrome: An inherited disorder of connective tissue characterized by abnormalities of the eyes, skeleton, and cardiovascular system.
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Mendelian: Referring to the great Moravian/Bohemian biologist Gregor Mendel (1822-84) who set forth the basic laws that constitute the foundation of classical genetics . Mendelian inheritance is the manner in which genes and traits are passed from parents to their children. The modes of Mendelian inheritance are autosomal dominant , autosomal recessive , X-linked dominant and X-linked recessive.
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Mitochondria: Normal structures responsible for energy production in cells. Mitochondria are located in the cytoplasm outside the nucleus of the cell. They consist of two sets of membranes, a smooth continuous outer coat and an inner membrane arranged in tubules or in folds that form plate-like double membranes (cristae).
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Mitochondrial: Referring to mitochondria. The mitochondria are normal structures called organelles in cells. They are located in the cell's cytoplasm outside the nucleus.
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Mitochondrial disease: Mutations (changes) in the mitochondrial chromosome are responsible for a number of disorders including, for example: - An eye disease called Leber's hereditary optic atrophy;
- A type of epilepsy called MERRF which stands for Myoclonus Epilepsy with Ragged Red Fibers; and
- A form of dementia called MELAS for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes.
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Mitochondrial inheritance: The inheritance of a trait encoded in the mitochondrial genome. Because of the oddities of mitochondria, mitochondrial inheritance does not obey the classic rules of genetics. Persons with a mitochondrial disease may be male or female but they are always related in the maternal line and no male with the disease can transmit it to his children.
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Mitochondrion: Singular of mitochondria. The mitochondria are normal structures called organelles in cells. They are located in the cell's cytoplasm outside the nucleus .
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Monogenic: Pertaining to one gene. As opposed to polygenic.
Multifactorial: Multiple factors.
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Multifactorial inheritance: The type of hereditary pattern seen when there is more than one genetic factor involved and, sometimes, when there are also environmental factors participating in the causation of a condition.
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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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Myoclonus: A condition of abnormal contraction of muscles or portions of muscles.
Nucleus: 1) In cell biology, the structure that houses the chromosomes. 2) In neuroanatomy, a group of nerve cells.
Obesity: The state of being well above one's normal weight.
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Optic: Having to do with vision.
Polygenic: Pertaining to two or more genes . As opposed to monogenic .
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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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Range: In medicine and statistics, the difference between the lowest and highest numerical values. For example, if five premature infants are born weighing two, three, four, four, and five pounds respectively, the range of their birth weights is two to five pounds.
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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Respiration: 1. The act of inhaling and exhaling air in order to exchange oxygen for carbon dioxide. Synonymous with breathing and ventilation. 2. The cellular metabolic process by which oxygen is taken in, substances are oxidized, energy is released, and carbon dioxide and oxidized products are given off.
Sickle cell anemia: A genetic blood disease due to the presence of an abnormal form of hemoglobin, namely hemoglobin S . Hemoglobin is the molecule in red blood cells that transports oxygen from the lungs to the farthest areas of the body.
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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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Skin color: The color of skin which is complexly determined. Skin color depends on many factors including reddening caused by inflammation , the hemoglobin level in the blood, and the darkening caused by increased deposition of the pigment melanin . Melanin itself is a polymer that comes in two types -- a red-yellow form known as pheomelanin and a black-brown form known as eumelanin.
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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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Trisomy: The presence of three copies of a chromosome rather than the normal two. The most common trisomies in newborns are trisomy 13 ( Patau syndrome ), trisomy 18 syndrome ( Edwards syndrome ) and trisomy 21 ( Down syndrome ). The most common trisomy among spontaneous abortions is trisomy 16.
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Turner syndrome: A chromosome disorder in females that is characterized by the absence of all or part of a second sex chromosome in some or all cells. The condition occurs in 1 in 2,500 to 3,000 girls born.
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X-linked: On the X chromosome. "Linked" in genetics does not mean merely associated. An X-linked gene travels with the X chromosome and therefore is part of the X chromosome.
XXY: See: Klinefelter syndrome.
- penicillamine, Cuprimine, Depen - Information on penicillamine (Cuprimine, Depen) a drug prescribed for the treatment of rheumatoid arthritis, Wilson's disease, lead poisoning, and the prevention of kidney stones in individual's with cystinuria.
- PCR (Polymerase Chain Reaction) - Learn about PCR (polymerase chain reaction) a method of analyzing a short sequence of DNA or RNA. PCR has many uses, diagnostic, forensics, cloning, and more.
- Diabetes - Learn about type 1 and 2 diabetes (Diabetes Mellitus) symptoms including increased urination, thirst, weight loss, fatigue, nausea, vomiting, skin infections, and blurred vision. Causes and diagnosis information is provided in the information.
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