نتایج جستجو برای: chronic granulomatous disease
تعداد نتایج: 1773348 فیلتر نتایج به سال:
The predominant genetic defect causing p47phox –deficient chronic granulomatous disease (A47 8 CGD) is a GT deletion ( D GT) at the beginning of exon 2. No explanation exists to account for the high incidence of this single mutation causing a rare disease in an unrelated, racially diverse population. In each of 34 consecutive unrelated normal individuals, both the normal and mutant D GT sequenc...
The mechanisms regulating activation of the respiratory burst enzyme, NADPH oxidase, of human neutrophils (PMN) are not yet understood, but protein phosphorylation may play a role. We have utilized a defect in a cytosolic factor required for NADPH oxidase activation observed in two patients with the autosomal recessive form of chronic granulomatous disease (CGD) to examine the role of protein p...
OBJECTIVES Patients with chronic granulomatous disease and carrier mothers of patients with chronic granulomatous disease are predisposed to developing various forms of lupus. This disorder is a neutrophil defect in intracellular killing. Abnormal apoptosis has been described. We hypothesized that abnormal apoptosis occurring in neutrophils of patients made them more immunogenic. METHODS Huma...
Chronic granulomatous disease (CGD) is a rare inherited disorder characterized by inability of phagocytes to generate oxygen radicals needed for intracellular killing of phagocytic microorganisms. We report a 2.5-year-old Iranian female with multiple liver abscesses. She was admitted in surgical ward because of abdominal pain and fever for one month duration that had no response to conventio...
A 2 year old girl presented with epilepsy 16 months after being diagnosed as having autosomal recessive chronic granulomatous disease. Computed tomography showed a cerebral mass which was surgically removed and proved histologically to be an aspergilloma. This case illustrates the application of molecular diagnostic techniques to the diagnosis of chronic granulomatous disease. The occurrence of...
In this article, we formulate a semiparametric model for counting processes in which the effect of covariates is to transform the time scale for a baseline rate function. We assume an arbitrary dependence structure for the counting process and propose a class of estimating equations for the regression parameters. Asymptotic results for these estimators are derived. In addition, goodness of fit ...
Malakoplakie is a chronic granulomatous inflammatory disease, which usually affects the genitourinary tract and less frequently other sites such as, kidney, ureter, bladder, bone, lung, skin, gastrointestinal ovary.
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