Qurratul Ann Warsi
University of California and San Francisco, Department of Epidemiology and Biostatistics, San Francisco, CA, USA.
[ 1 ] - Unexplained High Activity of Aspartate Aminotransferase in an Asymptomatic Pediatric Patient
Elevated enzyme activities in plasma may at times be attributed to the presence of macro-enzymes. The macro-enzymes are often serum enzymes in complex with immunoglobulins, resulting in a greater molecular mass that cannot be filtered by renal glomeruli and are, hence, retained in the plasma. The aspartate aminotransferase (AST) can exist as a macro-enzyme, although it has been rarely reported....
[ 2 ] - A Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction
Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...
[ 3 ] - Genital Involvement In Pre-Pubertal Pediatric Population: A Rare Aspect of Crohn’s Disease
Crohn’s disease is an inflammatory bowel disease (IBD), characterized by chronic intestinal inflammation that causes the loss of immune tolerance leading to bizarre inflammatory signals and disruption of mucosal barriers. Environmental triggers and interaction of genetic determinants also play an indispensible role. In this case report, we present a pre-pubertal girl with intermittent and refra...
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