Decellularized biological scaffold and stem cells from autologous human adipose tissue for cartilage tissue engineering.

Here, the in vitro engineering of a cartilage-like tissue by using decellularized extracellular matrix scaffold (hECM) seeded with human adipose stem cells (hASCs) which can both be isolated from the human waste adipose tissue is described. Cell-free, highly fibrous and porous hECM was produced using a protocol containing physical (homogenization, centrifugation, molding) and chemical (crosslinking) treatments, characterized by SEM, histochemistry, immunohistochemistry and in vitro cell interaction study. A construct of hECM seeded with hASCs was cultured in chondrogenic medium (with TGF-β3 and BMP-6) for 42 days.

DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.

Renal microangiopathies and membranoproliferative GN (MPGN) can manifest similar clinical presentations and histology, suggesting the possibility of a common underlying mechanism in some cases. Here, we performed homozygosity mapping and whole exome sequencing in a Turkish consanguineous family and identified DGKE gene variants as the cause of a membranoproliferative-like glomerular microangiopathy. Furthermore, we identified two additional DGKE variants in a cohort of 142 unrelated patients diagnosed with membranoproliferative GN.

MYO1E mutations and childhood familial focal segmental glomerulosclerosis.

Background: Focal segmental glomerulosclerosis is a kidney disease that is manifested as the nephrotic syndrome. It is often resistant to glucocorticoid therapy and progresses to end-stage renal disease in 50 to 70% of patients. Genetic studies have shown that familial focal segmental glomerulosclerosis is a disease of the podocytes, which are major components of the glomerular filtration barrier.

Disruption of PTPRO causes childhood-onset nephrotic syndrome.

Idiopathic nephrotic syndrome (INS) is a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema. Because it typically results in end-stage kidney disease, the steroid-resistant subtype (SRNS) of INS is especially important when it occurs in children. The present study included 29 affected and 22 normal individuals from 17 SRNS families; genome-wide analysis was performed with Affymetrix 250K SNP arrays followed by homozygosity mapping.