Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease.

Congenital heart disease (CHD) is one of the most prevalent neonatal congenital anomalies. To catalog the putative candidate CHD risk genes, we collected 16,349 variants [single-nucleotide variants (SNVs) and Indels] impacting 8,308 genes in 3,166 CHD cases for a comprehensive meta-analysis. Using American College of Medical Genetics (ACMG) guidelines, we excluded the 0.

Pretransplant laparoscopic nephrectomy in adult polycystic kidney disease: a single centre experience.

Objective: To report our experience with pretransplant laparoscopic nephrectomy in patients with autosomal dominant polycystic kidney disease (ADPKD), as ADPKD often progresses to end-stage renal disease and most azotaemic patients with ADPKD have enlarged kidneys, making graft placement difficult.

Material And Methods: We retrospectively reviewed the medical records of 13 patients with renal failure attributable to ADPKD who underwent pretransplant laparoscopic nephrectomy (21 renal units) from August 2002 to December 2006. Five patients had a unilateral nephrectomy, seven had a staged bilateral nephrectomy, and one had a simultaneous bilateral nephrectomy.