Assessment of the place of tubular reabsorption of phosphorus in the diagnosis of osteopenia of prematurity [Prematüre osteopenisi tanısında tübüler fosfor reabsorbsiyonunun yerinin değerlendirilmesi]

Aim: In this study, we aimed to investigate the utility of tubular reabsorption of phosphorus in the diagnosis of osteopenia of prematurity in addition to biochemical markers. Material and Methods: Premature babies with a gestational age of ?32 weeks and/or a birth weight of ?1 500 g who were hospitalized in the neonatal intensive care unit between June 2009 and March 2011 were included in the study. These babies were evaluated at the 40th gestational week and serum calcium, phosphorus, alkaline phosphatase, urea, creatinine, urinary calcium and phosphorus levels were measured and tubular reabsorption of phosphorus was determined. The subjects who had bone graphy findings and/or an alkaline phosphatase level of >400IU/L and a phosphorus value of 499 IU were compared with the newborns who were found to have a tubular reabsorption of phosphorus of ?%95 for the objective of evaluating the specificity and sensitivity of tubular reabsorption of phosphorus, the sensitivity, specificity, positive predictive value and negative predictive value of tubular reabsorption of phosphorus in the diagnosis of osteopenia were found to be 27%, 82%, 17% and 89%, respectively. When the osteopenic and non-osteopenic patients were compared in terms of the levels of tubular reabsorption of phosphorus, no statistically significant difference was found. Conclusions: It was thought that it was not appropriate to use tubular reabsorption of phosphorus alone in the diagnosis of osteopenia of prematurity. © 2015 by Turkish Pediatric Association

A genome-wide association study of metabolic traits in human urine

We present a genome-wide association study of metabolic traits in human urine, designed to investigate the detoxification capacity of the human body. Using NMR spectroscopy, we tested for associations between 59 metabolites in urine from 862 male participants in the population-based SHIP study. We replicated the results using 1,039 additional samples of the same study, including a 5-year follow-up, and 992 samples from the independent KORA study. We report five loci with joint P values of association from 3.2 × 10(-19) to 2.1 × 10(-182). Variants at three of these loci have previously been linked with important clinical outcomes: SLC7A9 is a risk locus for chronic kidney disease, NAT2 for coronary artery disease and genotype-dependent response to drug toxicity, and SLC6A20 for iminoglycinuria. Moreover, we identify rs37369 in AGXT2 as the genetic basis of hyper-β-aminoisobutyric aciduria