Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport Syndrome.

Background And Hypothesis: Unlike X-linked or autosomal recessive Alport Syndrome, no clear genotype/phenotype correlation has yet been demonstrated in patients carrying a single variant of COL4A3 or COL4A4.

Methods: We carried out a multicenter retrospective study to assess the risk factors involved in renal survival in patients presenting a single pathogenic variant on COL4A3 or COL4A4.

Results: 97 patients presenting a single pathogenic variant of COL4A3 or COL4A4 were included.

Challenging the narrative of alport syndrome spectrum: no link with cystic phenotype.

Background: Alport Syndromes (AS) are the second leading genetic cause of Kidney Failure (KF). Whether multiple kidney cysts (MKC) phenotype belongs to the AS spectrum remains debated.

Methods: This multicenter retrospective study focused on patients genotyped with pathogenic COL4A3, COL4A4, or COL4A5 variants (classified as ACMG-AMP 4 or 5) between January 2011 and January 2023 across four French university hospitals.

Predictive Factors of Missed Clinically Significant Prostate Cancers in Men with Negative Magnetic Resonance Imaging: A Systematic Review and Meta-Analysis.

Purpose: We systematically reviewed the literature on predictive factors for clinically significant prostate cancer diagnosis after prebiopsy negative magnetic resonance imaging in prostate cancer naïve patients.

Materials And Methods: The MEDLINE® and Scopus® databases were searched up to March 2019. The review protocol was published in the PROSPERO database (CRD42019125549).

Characterization of mononuclear cell subpopulations in normal fetal peripheral blood.

It is now possible to characterize fetal peripheral blood mononuclear cells (FPBMC) from normal fetuses sampled in utero under ultrasound guidance. The surface phenotype of FPBMC from 25 fetuses, between the 20th and the 26th week of gestation, was studied using standard reagents that are known to delineate mononuclear cell subsets in adult peripheral blood. Results were compared with those obtained in neonates (cord blood) and adults.