Rare mutation of angiopoietin-like protein 8 gene and severe hypertriglyceridemia / 基础医学与临床

Objective To screen new mutations of ANGPTL8 gene in severe hypertriglyceridemia population.Meth-ods We designed a capture array encompassing all coding regions of the target genes for next -generation sequencing (NGS)in a cohort of 43 unrelated patients with severe hypertriglyceridemia.First, to exclude known TG related gene mutations,then the ANGPTL8 mutation was screened and the Sanger sequencing was performed.In combina-tion with functional prediction and conservatism analysis, the pathogenic mutation was finally screened.Results After bioinformatics analysis, a new ANGPTL8 mutation was identified in 43 patients with severe hypertriglyceri-demia.Conclusions Through ANGPTL8 mutation screening for severe hypertriglyceridemia in this study, a new rare mutation is found.

Pathophysiogenesis and management of rare diseases causing childhood glaucoma: Research advances / 国际药学研究杂志

A wide range of rare eye diseases can be summarized into two categories, namely, the primary rare eye diseases and rare syndrome with ocular manifestations. Among rare eye diseases, childhood glaucoma is more common, which has caused about 8% of blindness in the pediatric population. Childhood glaucoma associated with rare diseases is classified in primary and secondary glaucoma. The secondary glaucoma is divided as glaucoma arising in neural crest anomalies, phakomatoses, metabolic diseases, mitotic disorders, congenital and/or acquired conditions. Medicine and surgery are two major managements of childhood glaucoma. This paper reviews the epidemiology, pathophysiogenesis, and management of childhood glaucoma.