Efficacy and safety of medications for osteoporosis in kidney transplant recipients or patients with chronic kidney disease: A meta-analysis.

This study conducted a meta-analysis to analyze the efficacy and safety of osteoporosis medications in kidney transplant recipients and patients with chronic kidney disease (CKD). PubMed, Embase, the Cochrane Central Register of Controlled Trials were searched from the date of their inception through October 21, 2022. We performed a meta-analysis of the efficacy and safety of osteoporosis medications in adult patients with stage 3-5 CKD or kidney transplant recipients enrolled in randomized clinical trials (RCTs).

Short article: Sequence variations of PKHD1 underlie congenital hepatic fibrosis in a Chinese family.

Objective: Congenital hepatic fibrosis (CHF) is a developmental disorder of the portobiliary system characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. The aim of our study was to identify the disease-causing gene of a Chinese family with CHF.

Patients And Methods: Whole-exome sequencing was performed in the family with CHF and variants were confirmed by Sanger sequencing.

A novel missense mutation of CRYGS underlies congenital cataract in a Chinese family.

Congenital cataract is a clinically and genetically heterogeneous disease. In this study, we examined a five-generation Chinese family with autosomal dominant nuclear congenital cataracts by whole exome sequencing. A novel heterozygous missense mutation c.

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

Background: Pediatric cataract is a clinically and genetically heterogeneous disease which is a significant cause of lifelong visual impairment and treatable blindness. Our study aims to investigate the genotype spectrum in a group of Chinese patients with pediatric cataract.

Methods: We enrolled 39 families with pediatric cataract from October 2015 to April 2016.

Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis.

Porokeratosis comprises heterogeneous keratinization disorders that are characterized by one or more atrophic patches surrounded by a ridge-like cornoid lamella. In this study, we evaluated seven families affected by porokeratosis and five sporadic patients of the disease in a Chinese population. We performed Sanger sequencing of exons and flanking intron-exon boundaries of mevalonate pathway genes (MVD, MVK, PMVK and FDPS) and of SLC17A9.

A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family.

Hand-foot-genital syndrome (HFGS) is a rare autosomal dominant inherited syndrome characterized by limb malformations and urogenital defects. HFGS is caused by mutations in the HOXA13 gene. The aim of this study was to identify causative mutations in individuals and to explore the molecular pathogenesis in a Chinese family with HFGS.