Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia.

Congenital adrenal hyperplasia (CAH) is a rare X-linked recessive inherited disease that is considered a major cause of steroidogenesis disorder and is associated with variants or complete deletion of the NR0B1 gene. The DAX-1 protein (encoded by NR0B1) is a vertebrate-specific orphan nuclear receptor and is also a transcriptional factor for adrenal and reproductive development. CAH usually causes adrenal insufficiency in infancy and early childhood, leading to hypogonadotropic hypogonadism in adulthood; however, few adult cases have been reported to date.

Biosynthesis of selenium nanoparticles and their protective, antioxidative effects in streptozotocin induced diabetic rats.

Green synthesis of selenium nanoparticles (Se NPs) was performed by mixing () leaf extract with the solution of selenious acid (HSeO) under continuous stirring conditions resulting the secondary metabolites conjugated Se NPs. The existence of functional groups of secondary metabolites on the surface of prepared Se NPs was confirmed by Fourier transform infrared spectroscopy (FTIR). The formation of crystalline nanoparticles with anisotropic shape was confirmed by transmission electron microscopy (TEM) images.

GJA8 missense mutation disrupts hemichannels and induces cell apoptosis in human lens epithelial cells.

Autosomal dominant congenital cataract (ADCC), the most common hereditary disease, is a major cause of eye disease in children. Due to its high genetic and clinical heterogeneity, the identification of ADCC-associated gene mutations is essential for the development of molecular therapies. In this study, we examined a four-generation Chinese pedigree with ADCC and identified putative mutations in ADCC candidate genes via next-generation sequencing (NGS) followed by Sanger sequencing.

Effect of hyperlipidemia on the incidence of cardio-cerebrovascular events in patients with type 2 diabetes.

Background: This study was to explore the effect of hyperlipidemia on the incidence of cardio-cerebrovascular diseases in patients with type 2 diabetes.

Methods: Three hundred ninety five patients with type 2 diabetes in our hospital from January 2012 to January 2016 were followed up with an average of 3.8 years.

Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells.

Congenital cataract (CC) is a clinical and genetically heterogeneous eye disease that primarily causes lens disorder and even amblyopic blindness in children. As the mechanism underlying CC is genetically inherited, identification of CC-associated gene mutations and their role in protein distribution are topics of both pharmacological and biological research. Through physical and ophthalmic examinations, two Chinese pedigrees with autosomal dominant congenital cataract (ADCC) were recruited for this study.

Surgical treatment and visual outcomes of cataract with persistent hyperplastic primary vitreous.

Aim: To evaluate the surgical treatment and visual outcomes of eyes with cataract and persistent hyperplastic primary vitreous (PHPV).

Methods: This retrospective study included patients with cataract and PHPV treated with various strategies. Anterior PHPV was treated using phacoemulsification with underwater electric coagulation on posterior capsule neovascularization, posterior capsulotomy, anterior vitrectomy, and intraocular lens (IOL) implantation.