Background: Lymphoepithelioma-like carcinoma (LELC) is a rare high-grade carcinoma that resembles nasopharyngeal lymphoepithelioma and can occur throughout the body. First reported in 1991, bladder LELC has an incidence of about 1% of all bladder carcinomas. Due to its rare occurrence, prognoses and ideal treatment guidelines have not been clearly defined.
View Article and Find Full Text PDFBackground: Urolithiasis affects an estimated 5% of the population and the lifetime risk of passing a stone in the urinary tract is estimated to be 8-10%. Urinary calculus formation is highly variable and while certain risk factors such as age, gender, seasonality, anatomic abnormality, and metabolic diseases have been identified, not much is known regarding the association of environmental factors such as lunar phases on renal colic. We conducted a retrospective study to test the hypothesis that full moon phase is an environmental factor associated for increased emergency department (ED) visits for renal colic due to ureteral calculus.
View Article and Find Full Text PDFThe progressive and permanent loss of cerebellar Purkinje cells (PC) is a hallmark of many inherited ataxias. Mutations in several genes involved in the regulation of Ca(2+) release from intracellular stores by the second messenger IP3 have been associated with PC dysfunction or death. While much is known about the defects in production and response to IP3, less is known about the defects in breakdown of the IP3 second messenger.
View Article and Find Full Text PDFThe identification of novel mutant alleles is important for understanding critical functional domains of a protein and establishing genotype:phenotype correlations. The recoil wobbler (rcw) allelic series of spontaneous ataxic mutants and the ENU-induced mutant nmf373 genetically mapped to a shared region of chromosome 10. Their mutant phenotypes are strikingly similar; all have an ataxic phenotype that is recessive, early-onset, and is not associated with neurodegeneration.
View Article and Find Full Text PDFThe soluble N-ethylmaleimide sensitive factor attachment receptors are a large family of membrane-associated proteins that are critical for Ca(2+)-mediated synaptic vesicle release. This family includes the VAMP, synaptosomal-associated protein, and syntaxin proteins. In this report, we describe a mutation in vesicle-associated membrane protein 1(VAMP1)/synaptobrevin in the mouse neurological mutant lethal-wasting (lew).
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