Altered expression of WFS1 and NOTCH2 genes associated with diabetic nephropathy in T2DM patients.

AIM: The increased incidence of type 2 diabetes mellitus (T2DM) and the importance of early identification and management of its complications, especially diabetic nephropathy (DN), have spotted the light on genetic factors that increase risk of T2DM and its related nephropathy. The present study aimed at investigating expression of (KCNJ11, ABCC8, JAZF1, WFS1, PPARG, NOTCH2 and EXOSC4) genes in peripheral blood of T2DM patients. METHOD: The study included 30 non-complicated T2DM patients, 30 patients with DN and 40 healthy controls. Quantitative Real Time PCR Array was used to study gene expression. RESULTS: NOTCH2 showed higher expression while KCNJ11, JAZF1, WFS1 and PPARG genes showed lower expression in DN patients compared to non-complicated patients. KCNJ11, JAZF1, WFS1, PPARG, and EXOSC4 expression showed significant negative correlation with microalbumin, while NOTCH2 expression was significantly positively correlated with microalbumin. AS regard HbA1c and studied genes expression, there was significant negative correlation between WFS1 expression and HbA1c, while NOTCH2, KCNJ11, JAZF1, PPARG, EXOSC4 expression didn't show significant correlation with HbA1c. Risk ratio of studied genes expression showed that WFS1 and NOTCH2 had highest risk ratio (30) and highest sensitivity and specificity, in relation to DN and they were the best predictors in the group of studied genes at cut off value of ≤0.861 for WFS1 and ≥0.678 for NOTCH2. CONCLUSION: Altered expression of WFS1 and NOTCH2 genes may play a role in pathogenesis and development of DN in patients with T2DM. These results may contribute in early identification and management of DN.

Diagnostic indicator of acute lung injury for pediatric critically ill patients at a tertiary pediatric hospital.

Early identification of acute lung injury (ALI) in pediatric patients at risk of mortality is important for improving outcome.Assessment of soluble form of receptor for advanced glycation end products (sRAGE) as a valid biomarker for diagnosis of ALI among critically ill, pediatric patients in addition to correlating levels of sRAGE and different outcomes of those patients.A Hospital-based case-control study was conducted in pediatric intensive care units (PICUs) at Cairo University Hospital, along a period of 6 months. Total of 68 pediatric patients following inclusion criteria were classified into: patients with ALI; with both ALI and sepsis; with sepsis and control patients. They were prospectively followed and their laboratory and immunological workup (at days 1 and 9) was done to measure serum sRAGE levels and detect (sRAGE) genotypes.The age of the included children ranged from 8 to 84 months. Plasma level of sRAGE was significantly higher in plasma from patients with ALI regardless of associated sepsis. Plasma sRAGE levels were positively correlated with lung injury score. When assessing sRAGE genotypes, TA and TT genotypes were significant in most of the ALI with and without sepsis patients.Monitoring levels of sRAGE and genotypes can significantly affect the survival of ALI children.