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Results for “DEFICIENCY DISEASES”

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At least 325 records · Page 18Linked to original sources
PubMed1998

Amyotrophic lateral sclerosis: a lesson in deficiency diseases.

Amyotrophic lateral sclerosis (ALS) is an age-dependent degeneration of motor neurons in the central nervous system. ALS is not caused by faulty nutrition. Recent data suggest that ALS could be an oxidative neurotoxicity induced by a mutation in the SOD1 protein. This finding extends beyond the simple loss of an antioxidant enzyme.

Amyotrophic Lateral Sclerosis↗
PubMed1991

C1-INH defect as an example of deficiency disease.

Primary defect of C1-inhibitor (C1-INH), the regulatory protein of the initial classical pathway of complement, is the cause of hereditary angioedema. Clinical symptoms involve potentially fatal obstruction of the upper respiratory tract, abdominal pains, and subcutaneous edemas. Since the description of functional tests for C1-INH two types of hereditary defect have been known: type I and type II. Sixteen patients with the type I of hereditary angioedema were diagnosed and treated in our hospital. The onset of the disease occurred between 1.5-12 y. of age. Clinical symptoms were observed in skin, gastrointestinal and respiratory tracts. Mean concentration of C1-INH in sera of 16 patients was 3.25 mg/dl, below 8.75 mg/dl that is the critical for well-functioning C1-INH. Inhibitory activity of C1-INH for C1 esterase in plasma was zero in most of the patients, while it was 0.94 +/- 0.20 U/ml in plasma samples of 91 healthy blood donors. Three modalities of treatment are available: substitution with C1-INH concentrate in acute attacks and antifibrinolytic and/or anabolic drugs for prophylaxis. We have obtained good therapeutic results with epsilon-aminocaproic acid (antifibrinolytic), 2g daily during 3 months, with 6 months intervals.

Adolescent↗
PubMed2006

[Epidemiology of HIV infection and acquired immune deficiency disease syndrome in Chile].

Since 1984 to December 2004, 14.611 HIV/AIDS cases (85% in males) have been reported to the Chilean surveillance system. This figure represents an incidence of 103 x 10(5) inhabitants. The epidemic affects mainly men in their active working and sexual age. The main risk factor for infection, has been the sexual contact. Universal access to antiretroviral therapy (ART) has changed the epidemic trend. In 1997 bi-therapy and in 2003 three-drug therapy (HAART) were implemented. Mortality was 2,4 cases x 10(5) inhabitants during 2004, with a 67% reduction since 1984. Vertical transmission has been significantly reduced, as a result of implementing since 1995 a preventive strategy that benefits seropositive women and their newborn infant. Local experts are preparing an electronic registration system in order to optimize resources and to accede to statistics in a real time.

Acquired Immunodeficiency Syndrome↗