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Glossary - G

Gaucher's disease
Gaucher Disease Gaucher Disease (pronounced "go-shay") is an inherited disorder caused by a defective gene that inhibits the production of an important enzyme. This enzyme, glucocerebrosidase, is needed for the breakdown of a type of fatty substance that can build up in cells - especially in the spleen, liver and bone marrow. Gaucher Disease can be detected through a blood test.
There are three types of Gaucher Disease.
Type 1 is the most common form, affecting one in 60,000 people in the US. Symptoms may include enlarged spleen and/or liver, anemia, bone pain, bleeding problems, easily fractured bones, and chronic fatigue. Type 1 is successfully treated with enzyme replacement therapy.
Type 2 is a very rare, rapidly progressive form of Gaucher Disease that affects the brain as well as the organs affected by Type 1. Infants with Type 2 usually do not live beyond the age of two.
Type 3 is a more slowly progressing neurologic disease, also affecting the organs affected by Type 1. Type 3 individuals who reach adolescence may live into their thirties or forties.
Glaucoma, chronic open-angle
In chronic open angle glaucoma the trabecular meshwork does not permit rapid egress of aqueous, resulting in increasing pressure. Intraocular pressure may result in damage to the optic nerve and ultimately to loss of visual field and visual acuity. This disease, which affects the nervous system, occurs in about 4% of the population above the age of 40. While it can occur at any age, it manifests itself predominantly in individuals over forty years old. It has equal prevalence among males and females. The only signs and symptoms associated with this disease are unrecognizable until it has reached the advance stages, at which point there is a gradual, painless visual loss. This disease can be caused by an impaired outflow through the trabecular network, an obstruction of the outflow from Shlemm's canal, as well as elevated orbital venous pressures. In some rare cases an excess of aqueous solution may also lead to the disease. A family history of the disease, diabetes mellitus, and being of African-American ancestry, are associated all risk factors.
Glaucoma, primary angle-closure
This form of glaucoma results from obstruction of aqueous humor outflow through the trabecular meshwork by peripheral iris apposition, resulting in an increase in intraocular pressure. The underlying mechanism is pupillary block, which causes forward iris displacement. The disease can take one of three forms: subacute, acute, or chronic. This disease, which affects the nervous system, occurs at a rate of 1/1000 and is more common among Blacks and Asians than with caucasians. This form of glaucoma is more prevalent among females than males and predominates between the ages of 55-70. The signs and symptoms differ, based on the form of the primary angle-closure glaucoma. In the subacute form, the primary signs and symptoms are; dull ache around the eye, mildly blurred vision, normal intraocular pressure,a shallow anterior chamber, Iris bombe, intermittent peripheral anterior synechiae, and an enlarged pupil. One is likely to exhibit some of these symptoms while watching television, reading a book, seeing a movie, or when fatigued. In the acute form, one may suffer from ocular pain, blurred vision, lacrimation, frontal headache, nausea and vomiting, elevated intraocular pressure, corneal microcystic edema, lid edema, a fixed mid-dilated pupil, and they may have a shallow anterior chamber and see halos around lights. Symptoms are likely to occur at times of emotional stress as well when the subacute symptoms are exhibited. In addition to sharing some symptoms from the subacute form, other signs and symptoms of this form include; multiple peripheral anterior synechiae, normal or elevated intraocular pressure, an increased cup to disc ratio, and normal size pupils. The underlying cause of this ailment is a predisposition of ocular anatomy. Some of the common risk factors include; small cornea, hyperopia, a shallow anterior chamber, being of Eskimo ancestry, being a female, the use of antidepressants or other drugs with cholinergic inhibition, and cataracts.
Glomerulonephritis, Acute
Acute Glomerulonephritis is an immunologic response to an infection that da the renal glomeruli. It can also be initiated by a variety of other bacterial and viral infections. The disease is characterized by inflammatory changes in the glomeruli and by the onset of hematuria with red blood cell casts, and mild proteinuria. The signs and symptoms include: hematuria, edema, hypertension, weight gain, back pain, anorexia, dark urine, scarlet fever, respiratory infection, and pharyngitis. The disease follows the group A beta-hemolytic streptococcus infection and occurs in children between the ages of 2-12.
Gynecomastia
Gynecomastia is a benign glandular enlargement of the male breast that is generally bilateral (it may be asymmetric, or rarely unilateral). It affects the skin/endocrine and endocrine/metabolic
systems. Some instance of familial gynecomastia may be inherited as a male-limited autosomal trait. The incidence of the disease in the USA is between 38 to 64% of pubertal males. The prevalence of gynecomastia in the USA is rare except when drug induced. The predominant age affected are those at puberty and over the age of 65, and involve males exclusively. The disease is usually asymptomatic and may be painful and tender if it has developed rapidly. Causes include, physiologic reasons: transient in neonatal boys and puberty, exposure to a high level of estrogen compared to testosterone concentration, tumors - estrogen secreting and gonadotropin secreting. Other causes may be drug induced (marijuana, anti-hypertensive, sedatives, amphetamines), from systemic disorders such as cirrhosis, thyroxicosis and renal failure, from androgen production deficiency, androgen resistant syndromes, from trauma, and from idiopathic disorders. Risk factors include, Klinefelter's syndrome, obesity, testicular failure, recovery from a prolonged severe illness associated with malnutrition and weight loss, family history of the disease, Peutz-Jeghers syndrome and male pseudohermaphroditism.

 

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Revised December 10, 20
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