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February 10, 2012

Bernard-Soulier Disease (Giant Platelet Syndrome) Glossary of Terms

The following are health and medical definitions of terms that appear in the Bernard-Soulier Disease (Giant Platelet Syndrome) 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).

Adhesion: The union of two opposing tissue surfaces (often in reference to the sides of a wound). Also refers to scar tissue strands that can form in the area of a previous operation, such as within the abdomen after a laparotomy.
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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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Aspirin: A good example of a tradename that entered into the language, Aspirin was once the Bayer trademark for acetylsalicylic acid.
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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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Bernard-Soulier syndrome (giant platelet syndrome):
See the entire definition of Bernard-Soulier syndrome

Blood clot: Blood that has been converted from a liquid to a solid state. Also called a thrombus.
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Chromosome: A visible carrier of the genetic information.
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Circumcision: Surgery that removes the foreskin (the loose tissue) covering the glans of the penis. Circumcision may be performed for religious or cultural reasons, or health reasons. Newborn circumcision diminishes the risk for cancer of the penis and lowers the risk for cancer of the cervix in sexual partners. It also decreases the risk of urinary tract infections and lowers the risk of sexually transmitted diseases, including especially HIV.
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Coagulation: In medicine, the clotting of blood. The process by which the blood clots to form solid masses, or clots.
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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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Diagnosis: 1 The nature of a disease; the identification of an illness. 2 A conclusion or decision reached by diagnosis. The diagnosis is rabies. 3 The identification of any problem. The diagnosis was a plugged IV.
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Epistaxis: Medical term for nosebleed. The nose is a part of the body that is very rich in blood vessels (vascular) and is situated in a vulnerable position on the face. As a result, any trauma to the face can cause bleeding which may be profuse. Nosebleeds can occur spontaneously when the nasal membranes dry out, crust, and crack, as is common in dry climates, or during the winter months when the air is dry and warm from household heaters. People are more susceptible if they are taking medications which prevent normal blood clotting (Coumadin, warfarin, aspirin, or any anti-inflammatory medication). Other predisposing factors include infection, trauma, allergic and non-allergic rhinitis, hypertension, alcohol abuse, and inherited bleeding problems. "Epistaxis" is a Greek word meaning "a dripping," especially of blood from the nose.

Family history: The family structure and relationships within the family, including information about diseases in family members.
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Flow cytometry: Analysis of biological material by detection of the light-absorbing or fluorescing properties of cells or subcellular fractions such as chromosomes passing in a narrow stream through a laser beam. Flow cytometry can be used with automated sorting devices to sort successive droplets of the stream into different fractions depending on the fluorescence emitted by each droplet.

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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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Giant platelet syndrome (Bernard-Soulier syndrome):
See the entire definition of Giant platelet syndrome

Glycoprotein: A molecule that consists of a carbohydrate plus a protein.
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Ibuprofen: A non-steroidal anti-inflammatory drug (NSAID) commonly used to treat pain, swelling, and fever. Common brand names for Ibuprofen include Advil, Motrin, and Nuprin.

Immune: Protected against infection. The Latin immunis means free, exempt.

Iron: An essential mineral. Iron is necessary for the transport of oxygen (via hemoglobin in red blood cells) and for oxidation by cells (via cytochrome). Deficiency of iron is a common cause of anemia. Food sources of iron include meat, poultry, eggs, vegetables and cereals (especially those fortified with iron). According to the National Academy of Sciences, the Recommended Dietary Allowances of iron are 15 milligrams per day for women and 10 milligrams per day for men. Iron overload can damage the heart, liver, gonads and other organs. Iron overload is a particular risk in people who may have certain genetic conditions (hemochromatosis) sometimes without knowing it and also in people receiving recurrent blood transfusions. Iron supplements meant for adults (such as pregnant women) are a major cause of poisoning in children.

Laboratory: A place for doing tests and research procedures and preparing chemicals, etc. Although "laboratory" looks very like the Latin "laboratorium" (a place to labor, a work place), the word "laboratory" came from the Latin "elaborare" (to work out, as a problem, and with great pains), as evidenced by the Old English spelling "elaboratory" designating "a place where learned effort was applied to the solution of scientific problems."

Menstruation: The periodic blood that flows as a discharge from the uterus. Also called menorrhea, the time during which menstruation occurs is referred to as menses. The menses occurs at approximately 4 week intervals to compose the menstrual cycle.

Naproxen: A non-steroidal anti-inflammatory drug (NSAID) used for the management of mild to moderate pain, fever, and inflammation. Naproxen blocks the enzyme cyclooxygenase that makes prostaglandins, resulting in lower concentrations of prostaglandins. As a consequence, inflammation, pain and fever are reduced. Brand names for naproxen include Anaprox, Naprelan, Naprosyn, and Aleve.
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Platelet: An irregular, disc-shaped element in the blood that assists in blood clotting. During normal blood clotting, the platelets clump together (aggregate). Although platelets are often classed as blood cells, they are actually fragments of large bone marrow cells called megakaryocytes.

Platelet aggregation: The clumping together of platelets in the blood. Platelet aggregation is part of the sequence of events leading to the formation of a thrombus (clot).

Prevalence: The proportion of individuals in a population having a disease. Prevalence is a statistical concept referring to the number of cases of a disease that are present in a particular population at a given time.

Purpura: 1. A hemorrhagic area in the skin. The area of bleeding within the skin, by definition, is greater than 3 millimeters in diameter. The appearance of the purpura depends on age of the lesion. Early purpura is red and becomes darker, then purple, and brown-yellow as it fades. Purpura does not blanch when touched.
2. A condition characterized by purpura such as immune thrombocytopenic purpura and Schonlein-Henoch purpura.

Receptor: 1. In cell biology, a structure on the surface of a cell (or inside a cell) that selectively receives and binds a specific substance. There are many receptors. There is a receptor for (insulin; there is a receptor for low-density lipoproteins (LDL); etc. To take an example, the receptor for substance P, a molecule that acts as a messenger for the sensation of pain, is a unique harbor on the cell surface where substance P docks. Without this receptor, substance P cannot dock and cannot deliver its message of pain. Variant forms of nuclear hormone receptors mediate processes such as cholesterol metabolism and fatty acid production. Some hormone receptors are implicated in diseases such as diabetes and certain types of cancer. A receptor called PXR appears to jump-start the body's response to unfamiliar chemicals and may be involved in drug-drug interactions.
2. In neurology, a terminal of a sensory nerve that receives and responds to stimuli.

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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Recombinant: A person with a new combination of genes, a combination of genes not present in either parent, due to parental recombination of those genes.

Stomach: 1. The sac-shaped digestive organ that is located in the upper abdomen, under the ribs. The upper part of the stomach connects to the esophagus, and the lower part leads into the small intestine.
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Surgery: The word "surgery" has multiple meanings. It is the branch of medicine concerned with diseases and conditions which require or are amenable to operative procedures. Surgery is the work done by a surgeon. By analogy, the work of an editor wielding his pen as a scalpel is s form of surgery. A surgery in England (and some other countries) is a physician's or dentist's office.
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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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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.

Tooth: The structures within the mouth that allow for biting and chewing. Teeth have different shapes, depending on their purpose. The sharp canine and frontal teeth allow for biting, while the flattened, thick molars in the back of the mouth provide grinding surfaces for masticating food. All teeth have essentially the same structure: a hard crown above the gum line, which is attached to two or four roots by a portion called the neck. The roots are covered with a very thin layer of bone, and keep the tooth embedded in the bones of the jaw. The exposed exterior of the tooth is covered with tough enamel. Under the enamel is a thick layer of dentin, and in the center is the pulp. Blood vessels and nerves are found within the pulp.

Trauma: Any injury, whether physically or emotionally inflicted. "Trauma" has both a medical and a psychiatric definition. Medically, "trauma" refers to a serious or critical bodily injury, wound, or shock. This definition is often associated with trauma medicine practiced in emergency rooms and represents a popular view of the term. In psychiatry, "trauma" has assumed a different meaning and refers to an experience that is emotionally painful, distressful, or shocking, which often results in lasting mental and physical effects.
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Von Willebrand disease: An inherited bleeding disorder in which a clotting protein called von Willebrand factor is deficient or defective. Von Willebrand factor is made by cells lining the wall of blood vessels. When vessels are damaged, platelets normally clump at the site of the injury. Von Willebrand factor acts as glue to help the platelets clump. Von Willebrand factor is also a carrier of clotting factor VIII, another protein that helps the blood to clot.
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  • Related Diseases & Conditions

    • Anemia
      • 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.
    • Nosebleed
      • Nosebleed is common in dry climates during winter months, and in hot dry climates with low humidity. Individual taking blood clotting medications, aspirin, or antiinflammatory medications may be more prone to nose bleeding. Other factors that contribute to nosebleed are trauma (including nose picking), rhinitis, and high blood pressure. Treatment depends on the severity of the condition.
    • Vaginal Bleeding
      • Normal vaginal bleeding (menorrhea) occurs through the process of menstruation. Abnormal vaginal bleeding in women who are ovulating regularly most commonly involves excessive, frequent, irregular, or decreased bleeding. Causes of abnormal may arise from a variety of conditions.
    • Peptic Ulcer
      • A peptic ulcer is an ulcer in the lining of the stomach, duodenum, or esophagus. Ulcer formation is related to Helicobacter pylori bacteria in the stomach, use of anti-inflammatory medications, and cigarette smoking.
    • Bumps and Bruises
      • A bruise, or contusion, is caused when blood vessels are damaged or broken as the result of a blow to the skin. The raised area of a bump or bruise results from blood leaking from these injured blood vessels into the tissues as well as from the body's response to the injury. Treatments include applying an ice pack and pressure to the area by hand.
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Bernard-Soulier Disease (Giant Platelet Syndrome)

What is a peptic ulcer?

A peptic ulcer is a hole in the gut lining of the stomach, duodenum, or esophagus. A peptic ulcer of the stomach is called a gastric ulcer; of the duodenum, a duodenal ulcer; and of the esophagus, an esophageal ulcer. An ulcer occurs when the lining of these organs is corroded by the acidic digestive juices which are secreted by the stomach cells. Peptic ulcer disease is common, affecting millions of Americans yearly. The medical cost of treating peptic ulcer and its complications runs in the billions of dollars annually. Recent medical advances have increased our understanding of ulcer formation. Improved and expanded treatment options are now available.

What are the causes of peptic ulcers?

For many years, excess acid was believed to be the major cause of ulcer disease. Accordingly, treatment emphasis was on neutra...

Read the Peptic Ulcer article »




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