Unlabelled: BACKGROUND: This case report presents a history of familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). The patient was admitted to the hospital with hypertensive encephalopathy. FHHNC is a rare autosomal recessive disease caused by mutations in CLDN16 or CLDN19, resulting in insufficient magnesium and calcium kidney reabsorption.
View Article and Find Full Text PDFMembrane transporters are important determinants of drug bioavailability. Their expression and activity affect the intracellular drug concentration in leukemic cells impacting response to therapy. Pharmacogenomics represents genetic markers that reflect allele arrangement of genes encoding drug transporters associated with treatment response.
View Article and Find Full Text PDFAlthough the natural niche for H. pylori (Hp) is the human stomach, for widespread infection to occur this microorganism may need to survive in the external environment. Molecular techniques such as polymerase (PCR) have revealed the presence of Hp DNA in water, indicating that this environment could act as a reservoir for this bacterium.
View Article and Find Full Text PDFWe previously reported the function of Rbs1 protein in RNA polymerase III complex assembly via interactions with both, proteins and mRNAs. Rbs1 is a poly(A)-binding protein. The R3H domain in Rbs1 is required for mRNA interactions.
View Article and Find Full Text PDFObjectives: Computer CTG analysis (cCTG) included short-term variation (STV) is one of the methods of monitoring fetal condition during delivery. The aim of our study was to define appropriability of STV measured within 1 hour before delivery in prediction of neonatal outcomes.
Material And Methods: The retrospective study included 1014 pregnant women, who gave birth in the Department of Obstetrics and Perinatology.