Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways

A case of umbilical endometriosis following cesarean section

Umbilical endometriosis is a rare pathology whose etiopathogenesis is still uncertain and the theories put forward are all controversial. Diagnosis is therefore frequently difficult. The authors report a case of umbilical endometriosis which occurred in a scar left by an earlier cesarean section. Moreover, they discuss the aspects which might facilitate the diagnostic approach and a correct therapeutic management

A case of umbilical endometriosis following cesarean section

Umbilical endometriosis is a rare pathology whose etiopathogenesis is still uncertain and the theories put forward are all controversial. Diagnosis is therefore frequently difficult. The authors report a case of umbilical endometriosis which occurred in a scar left by an earlier cesarean section. Moreover, they discuss the aspects which might facilitate the diagnostic approach and a correct therapeutic management

Renal tubercolosis : a case report

Diagnosis and surgical treatment of a mega- renal tubercolosis