Clinical heterogeneity among patients with Gaucher's disease
Article Abstract:
Gaucher's disease is an inherited disorder caused by a lack of the enzyme glucocerebrosidase. Gaucher's disease is classified into three types that differ according to neurological involvement and rate of disease progression. However, even among patients with the same type, symptoms and severity vary widely. Enlargement of the spleen and liver is perhaps the most common manifestation of the disease. Type 1 is seen most frequently among Ashkenazic Jews. Most patients with type 1 are asymptomatic and probably go undiagnosed. Type 2 is characterized by progressive neurological deterioration and death early in life. Type 3 is characterized by a variety of neurological disorders such as partial paralysis and seizures. Although the gene for glucocerebrosidase has been identified, genetic screening cannot yet accurately predict the incidence or prognosis of Gaucher's disease. Symptoms are treated through procedures including partial and total removal of the spleen and transfusions.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 1993
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Clinical ecology
Article Abstract:
Based on a lack of solid scientific data, the Council on Scientific Affairs of the American Medical Association can not affirm that multiple chemical sensitivity syndrome (MCSS) exists as a recognized clinical entity. Multiple chemical sensitivity syndrome allegedly results when susceptible individuals develop immune system disorders and other abnormalities following long-term exposure to environmental substances. Clinical ecologists are physicians who attempt to diagnose and treat MCSS. Candida hypersensitivity syndrome is a type of MCSS allegedly caused by overgrowth of the fungus in the body. Chronic fatigue syndrome is often ascribed to an environmental agent, but no conclusive cause has been found. This is also the case for sick-building syndrome. Clinical ecologists have tried many treatments for these disorders, but few have been shown to be effective in controlled studies.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 1992
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