👤 Ahmad H Mufti

Diabetes is a chronic disease resulting from insufficient insulin secretion or impaired insulin function. Diabetic nephropathy (DN) is one of the most common complications of diabetes and a leading cause of end-stage renal disease. Early diagnosis of DN is crucial for timely intervention and effective disease management. Gene expression profiles GSE142025 and GSE220226 were retrieved from the GEO database and combined into a metadata cohort, while GSE189007 was obtained as an independent validation dataset. Differentially expressed genes (DEGs) were identified in 46 glomerular samples from DN patients and 31 control samples. Gene Ontology (GO) and Disease Ontology (DO) enrichment analyses, gene set enrichment analysis (GSEA), least absolute shrinkage and selection operator (LASSO) regression, support vector machine-recursive feature elimination (SVM-RFE) analysis, and area under the curve (AUC) calculations were performed. A total of 109 DEGs were identified. Among them, DUSP1, EGR1, FPR1, G6PC, GDF15, LOX, LPL, PRKAR2B, PTGDS, and TPPP3 were selected as potential diagnostic biomarkers for DN. These biomarkers exhibited a positive correlation with immune cell infiltration. Experimental validation identified LOX as the most promising novel diagnostic biomarker for DN. This study provides new insights into the early diagnosis, pathogenesis, and molecular mechanisms of DN. Show less

Acute pancreatitis results in high morbidity and mortality. Gallstones and alcoholism are considered leading causes of acute pancreatitis. However, increasing prevalence of obesity, diabetes and lifestyle choices has resulted in Hypertriglyceridaemia induced pancreatitis (HTAP) becoming more common. HTAP is said to be more severe than other causes. The treatment options available vary including intravenous (IV) insulin, heparin, plasma exchange, fibrates, niacin, omega three fatty acids and dietary restrictions. This is a case report of a patient presenting with HTAP and the dilemma treating physicians faced in trying to balance the need for urgent treatment with invasiveness of procedure and paucity of evidence. Show less

There is only partial overlap in the genetic background of isolated rapid-eye-movement sleep behavior disorder (iRBD) and Parkinson's disease (PD). To examine the role of autosomal dominant and recessive PD or atypical parkinsonism genes in the risk of iRBD. Ten genes, comprising the recessive genes PRKN, DJ-1 (PARK7), PINK1, VPS13C, ATP13A2, FBXO7, and PLA2G6 and the dominant genes LRRK2, GCH1, and VPS35, were fully sequenced in 1039 iRBD patients and 1852 controls of European ancestry, followed by association tests. We found no association between rare heterozygous variants in the tested genes and risk of iRBD. Several homozygous and compound heterozygous carriers were identified, yet there was no overrepresentation in iRBD patients versus controls. Our results do not support a major role for variants in these genes in the risk of iRBD. © 2020 International Parkinson and Movement Disorder Society. Show less