A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD.

Background: The genotype characteristics and their associated clinical phenotypes in patients with aniridia were analyzed to explore pathogenic variants using whole-exome sequencing.

Methods: One patient with aniridia was enrolled at the Beijing Tongren Hospital. Comprehensive ophthalmic and general examinations were performed on the patient.

A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome.

Background: This study was to report a novel CREBBP mutation and phenotype in a child with Rubinstein-Taybi syndrome.

Methods: Case report of a 9-year-old boy.

Results: We described the patient's clinical manifestations in detail, and found that in addition to the typical systemic manifestations of the syndrome, the outstanding manifestation of the child was severe intellectual deficiency and prominent ocular abnormalities.

Suprachoroidal hemorrhage associated with pars plana vitrectomy.

Purpose: To analyze the characteristics, related risk factors, and prognosis of suprachoroidal hemorrhage (SCH) associated with pars plana vitrectomy (PPV).

Methods: Cases of SCH associated with PPV excluding trauma were retrospectively analyzed in Beijing Tongren Hospital between January 2010 and June 2020. The data collected included general data, myopia status, axial length, state of the crystalline lens, SCH onset time, range, treatment method, visual prognosis, and methods of operation and anesthesia.

Peptidome profiling of human serum of uveal melanoma patients based on magnetic bead fractionation and mass spectrometry.

Aim: To find new biomarkers for uveal melanoma (UM) by analyzing the serum peptidome profile.

Methods: Proteomic spectra in patients with UM before and after operation were analyzed and compared with those of healthy controls. Magnetic affinity beads were used to capture serum peptides and matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometer were used to compile serum peptide profiles.

The genetic spectrum of familial hypercholesterolemia in the central south region of China.

Background And Aims: Familial hypercholesterolemia (FH) is the most common and severe autosomal dominant lipid metabolism dysfunction, which causes xanthoma, atherosclerosis and coronary heart disease. Earlier studies showed that mutations in LDLR, APOB and PCSK9 cause FH. Although more than 75% of the population in Europe has been scrutinized for FH-causing mutations, the genetic diagnosis proportion among Chinese people remains very low (less than 0.

Light-mediated control of gene expression in filamentous fungus Trichoderma reesei.

We developed a light-mediated system based on synthetic light-switchable transactivators. The transactivators bind promoter upon blue-light exposure and rapidly initiate transcription of target transgenes in filamentous fungus Trichoderma reesei. Light is inexpensive to apply, easily delivered, and instantly removed, and thus has significant advantages over chemical inducers.

Analysis of post-operative endophthalmitis after pars plana vitrectomy: a 10-year experience at a single center.

Background: Endophthalmitis can be a devastating complication after pars plana vitrectomy. The incidence of postvitrectomy endophthalmitis is significantly lower than that of endophthalmitis occurring after other intraocular operations. However, normal post-operative pain and inflammation may mask endophthalmitis and lead to delayed diagnosis and grave visual consequences.

Effect of the regimen of Gaoshan Hongjingtian on the mechanism of poly (ADP-ribose) polymerase regulation of nuclear factor kappa B in the experimental diabetic retinopathy.

Background: Poly(ADP-ribose) polymerase (PARP) plays an important role in the death of retinal capillary cells in diabetic retinopathy (DR) partly via its regulation of nuclear factor kappa B (NF-κB). The current study investigated the effect of the regimen of Gaoshan Hongjingtian (RG) on the mechanism of PARP regulation of NF-κB, and demonstrated the possible impact of the RG and Gaoshan Hongjingtian (Rhodiola sachalinensis, RS) on diabetic retinopathy.

Methods: Wistar rats were made diabetic by administering streptozotocin.

[An investigation on the trend and related determinants of cigarette smoking on experimental smokers among undergraduate students in Changsha].

Objective: To investigate the trend and related determinants of cigarette smoking on experimental smokers among undergraduate students in Changsha.

Methods: Stratified sampling method was adopted and 3600 undergraduate students from grade 1 to 3 in Changsha city were investigated through a self-administered questionnaire. All the experimental smokers during the last month were selected and divided into two groups based on the present smoking status.