Medical Glossary

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Gaucher disease, type 1




Gaucher disease, type 1

The most common and best known form of Gaucher disease. It affects the spleen, liver, and bone marrow and spares the brain. The symptoms include enlargement of the spleen (usually the first sign), anemia, low blood platelets, increased skin pigmentation, and a yellow fatty spot on the white of the eye (a pinguecula). Severe bone involvement can lead to pain and collapse of the bone of the hips, shoulders, and spine.

RELATED TERMS
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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.

Spleen
The organ that cleans blood and makes white blood cells.

Liver
The largest organ in the body. The liver carries out many important functions, such as making bile, changing food into energy, and cleaning alcohol and poisons from the blood.

Bone
Bone refers either to a hardened connective tissue or to one of the individual structures, or organs, into which it is formed, found in many animals. Bones support body structures, protect internal organs, and (in conjunction with muscles) facilitate movement; are also involved with cell formation, calcium metabolism, and mineral storage. The bones of an animal are, collectively, known as the skeleton.

Marrow
The tissue which fills the cavities of most bones; the medulla. In the larger cavities it is commonly very fatty, but in the smaller cavities it is much less fatty, and red or reddish in color.

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."" "

Anemia
Anemia is a condition in which a deficiency in the size or number of erythrocytes (red blood cells) or the amount of hemoglobin they contain limits the exchange of oxygen and carbon dioxide between the blood and the tissue cells. Most anemias are caused by a lack of nutrients required for normal erythrocyte synthesis, principally iron, vitamin B-12, and folic acid. Others result from a variety of conditions, such as hemorrhage, genetic abnormalities, chronic disease states or drug toxicity.

Blood
The life-maintaining fluid which is made up of plasma, red blood cells (erythrocytes), white blood cells (leukocytes), and platelets; blood circulates through the body's heart, arteries, veins, and capillaries; it carries away waste matter and carbon dioxide, and brings nourishment, electrolytes, hormones, vitamins, antibodies, heat, and oxygen to the tissues.

Platelets
Cells found in the blood.

Skin
Skin is an organ of the integumentary system; which is composed of a layer of tissues that protect underlying muscles and organs. Skin is used for insulation, vitamin D production, sensation, and excretion (through sweat).

Pain
An unpleasant sensory or emotional experience primarily associated with tissue damage, or described in terms of tissue damage, or both.

Spine
A column in the body consisting of 33 vertebrae.



SIMILAR TERMS
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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.

Gaucher disease, types 2-5
A series of disease due to glucocerebrosidase deficiency and accumulation of glucocerebroside in cells. By comparison with type 1 Gaucher disease, these are far less frequent forms of Gaucher disease.

Gaucher's disease
Deficiency of acid glucosidase. Glucosyl ceramide accumulates in the reticuloendothelial cells in bone marrow, spleen and lymph nodes and may cause polyarthralgia and osteonecrosis of the hip.



PREVIOUS AND NEXT TERMS
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Gastropathy
Disease of the stomach, as in hypoproteinemic hypertrophic gastropathy.

Gastroschisis
A birth defect in which there is a separation in the abdominal wall. Through this opening protrudes part of the intestines which are not covered by peritoneum (the membrane that normally lines the inside of the abdomen). The opening in the abdominal wall in gastroschisis is never at the site of the umbilicus (the navel or belly button). Rather, the umbilicus is characteristically to the left of the gastroschisis and is separated from it by a bridge of skin.

Gastroscope
A flexible, lighted instrument that is put through the mouth and down the esophagus to view the stomach. Tissue from the stomach can also be removed through the gastroscope.

Gastrostomy, percutaneous endoscopic (PEG)
A surgical procedure for placing a feeding tube without having to perform an open laparotomy (operation on the abdomen). The aim of PEG is to feed those who cannot swallow. PEG may be done by a surgeon, otolaryngologist (ENT specialist) or gastroenterologist (GI specialist). It is done in a. hospital or outpatient surgical facility. Local anesthesia (usually lidocaine or another spray) is used to anesthetize the throat. An endoscope (a flexible, lighted instrument) is passed through the mouth, throat and esophagus to the stomach. The surgeon then makes a small incision (cut) in the skin of the abdomen and pushes an intravenous cannula (an IV tube) through the skin into the stomach and sutures (ties) it in place. The patient can usually go home the same day or the next morning. Possible complications include wound infection (as in any kind of surgery) and dislodging or malfunction of the tube. Percutaneous endoscopic gastrostomy may be a mouthful (as a term) but it describes the procedure accurately. A gastrostomy (a surgical opening into the stomach) is made percutaneously (through the skin) using an endoscope to put the feeding tube in place. PEG takes less time, carries less risk and costs less than a classic surgical gastrostomy which requires opening the abdomen.

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.

Gaucher disease, type 1

Gaucher disease, types 2-5
A series of disease due to glucocerebrosidase deficiency and accumulation of glucocerebroside in cells. By comparison with type 1 Gaucher disease, these are far less frequent forms of Gaucher disease.

Gay gene
A gene located on the X chromosome which was alleged to determine male homosexuality. The "gay gene" was dubbed homosexuality 1 (HMS1) and the male sexual orientation gene. It was thought to be in chromosome band Xq28. However, one would expect there to be strong selective pressures against a gene for male homosexual orientation. The original claim for the "gay gene" was made in 1993 by Dean H. Hamer and colleagues. There has been no independent confirmation of the existence of a "gay gene" and today there is considerable doubt about its existence.

Gay suicide risk
High rates of suicide have consistently been reported among homosexuals, particularly among adolescents and young adults.

GB virus C
A virus related to the hepatitis C virus but which does not cause hepatitis and, in fact, is not known to be responsible for any disease. Infection with GB virus C (GBV-C) is beneficial to HIV-infected patients. They enjoy longer survival if they are coinfected with this virus and HIV than if they have HIV alone. Having two viruses is better than one here. Having both HIV and GB virus C is better than having HIV alone. GB virus C (GBV-C) is also called hepatitis G. However, the designation GB virus C (GBV-C) is preferred because the virus is not a cause of hepatitis.

GBV-C
GB virus C is genetically related to the hepatitis C virus but which does not cause hepatitis and, in fact, is not known to be responsible for any disease. Infection with GB virus C (GBV-C) seems to be beneficial to HIV-infected patients. They enjoy longer survival if they are coinfected with this virus and HIV than if they have HIV alone. GB virus C (GBV-C) is also called hepatitis G. However, the designation GB virus C (GBV-C) is preferred because the virus is not a cause of hepatitis.

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This dictionary contains 19186 terms.







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