Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene.

Background: Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare hereditary disorder caused by variants in PKHD1. Currently, aberrant splicing has been reported to play important roles in genetic disease. Our goal is to analyze intronic variants in PKHD1 at the mRNA level.

Acute exudative paraneoplastic polymorphous vitelliform maculopathy in a patient with thymoma, myasthenia gravis, and polymyositis.

Importance: This is the first reported case of acute exudative paraneoplastic polymorphous vitelliform maculopathy (AEPPVM) in a patient with thymoma, accompanied by myasthenia gravis (MG) and polymyositis.

Objective: To examine the pathogenesis of ocular disease in a patient with yolk-like fundus lesions and thymoma, MG, and polymyositis throughout the body based on clinical manifestations, diagnosis, differential diagnosis, and genetic testing to determine the appropriate treatment course.

Design, Setting, And Participants: We describe a 63-year-old woman who presented to our tertiary medical center with a 3-month history of reduced visual acuity in both eyes.

Incidence rates, risk factors, and outcomes of aspiration pneumonia after gastric endoscopic submucosal dissection: A systematic review and meta-analysis.

Background And Aim: The risk and prognosis of aspiration pneumonia (AP) after endoscopic submucosal dissection (ESD) are inconsistent among studies. We aim to estimate the incidence, risk factors, and outcome of AP in patients after gastric ESD.

Methods: PubMed, EMBASE, Cochrane Library, and Web of Knowledge were searched for relevant articles from inception until April 2020.

Bilateral acute angle closure glaucoma as an initial presentation of Vogt-Koyanagi-Harada syndrome: A clinical case report.

Purpose: Vogt-Koyanagi-Harada (VKH) is an autoimmune disease with bilateral granulomatous uveitis and various systemic manifestations. Bilateral acute angle closure glaucoma (AACG) can be a rare initial manifestation of VKH that may be misdiagnosed as primary angle closure glaucoma (PACG).

Case Report: A 62-year-old woman with bilateral painless loss of vision referred to Qingdao Municipal Hospital.

A Randomized Controlled Trial of Chuanhutongfeng Mixture for the Treatment of Chronic Gouty Arthritis by Regulating miRNAs.

Background: We investigated whether Chuanhutongfeng mixture has actions on chronic gouty arthritis (CGA) by regulating miRNAs.

Methods: A total of 255 patients with CGA and 30 controls were enrolled. miRNA expression profiles and cluster analysis were preformed; RT-qPCR was used to detect miRNAs associated with CGA.

Identification of rare paired box 3 variant in strabismus by whole exome sequencing.

Aim: To identify the potentially pathogenic gene variants that contributes to the etiology of strabismus.

Methods: A Chinese pedigree with strabismus was collected and the exomes of two affected individuals were sequenced using the next-generation sequencing technology. The resulting variants from exome sequencing were filtered by subsequent bioinformatics methods and the candidate mutation was verified as heterozygous in the affected proposita and her mother by sanger sequencing.

Ultrastructural pathological alterations in ocular muscles in a cat model with exotropia.

To study the ultrastructural alterations of the ocular muscles in a cat model with exotropia. A total of 18 cats (4-6 weeks old) were included in the study and randomly divided into experimental group (n=12) and sham group (n=6). The experimental group underwent surgery to generate the exotropia model.