Novel mutations in in Bietti corneoretinal crystalline dystrophy: Next-generation sequencing technology and genotype-phenotype correlations.

Purpose: To identify any novel mutations in in 85 Chinese families with Bietti corneoretinal crystalline dystrophy (BCD) by using next-generation sequencing, and to summarize the mutation spectrum in this population, along with any genotype-phenotype correlations.

Methods: A total of 90 patients with BCD from 85 unrelated Chinese families were recruited. All probands were analyzed by using gene chip-based next-generation sequencing, to capture and sequence all the exons of 57 known hereditary retinal degeneration-associated genes.

[Development of a new type of biological organic fertilizer and its effect on the growth promotion of tomato].

The objective of this study was to improve the ability of sporulation production of Trichoderma guizhouense NJAU4742 under solid state fermentation by using rice straw and amino acids as resources, and the fermentation products were used as inoculants of the organic fertilizers adding with different ratios of amino acids solution to develop a new type of biological organic fertilizer. The results indicated that the optimal condition for sporulation by T. guizhouense NJAU4742 was soaking in 30 times diluted amino acid solution for one whole night, with initial pH 3.

Long-term safety of human retinal progenitor cell transplantation in retinitis pigmentosa patients.

Background: Retinitis pigmentosa is a common genetic disease that causes retinal degeneration and blindness for which there is currently no curable treatment available. Vision preservation was observed in retinitis pigmentosa animal models after retinal stem cell transplantation. However, long-term safety studies and visual assessment have not been thoroughly tested in retinitis pigmentosa patients.

Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.

Purpose: To characterize the spectrum of CYP4V2 gene mutations in 92 unrelated Chinese probands with Bietti's crystalline dystrophy (BCD) and to describe the molecular and clinical characteristics of four novel CYP4V2 mutations associated with BCD.

Methods: All study participants underwent a complete ophthalmological examination. Mutational screening of CYP4V2 coding regions and flanking intron sequences was examined via directional Sanger sequencing, with allele separation confirmed by screening other family members.

Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology.

Purpose: To identify pathogenic mutations responsible for retinal dystrophies (RDs) in three unrelated Chinese families.

Methods: Three probands from unrelated families with RDs were recruited. Genomic DNA prepared from leukocytes was analyzed using gene chip-based next-generation sequencing (NGS) to capture and sequence all of the exons of 100 known RD-associated genes.

Biodegradable and thermosensitive monomethoxy poly(ethylene glycol)-poly(lactic acid) hydrogel as a barrier for prevention of post-operative abdominal adhesion.

Post-operative peritoneal adhesions are serious consequences of abdominal or pelvic surgery and cause severe bowel obstruction, chronic pelvic pain and infertility. In this study, a novel nano-hydrogel system based on a monomethoxy poly(ethylene glycol)-poly(lactic acid) (MPEG-PLA) di-block copolymer was studied for its ability to prevent abdominal adhesion in rats. The MPEG-PLA hydrogel at a concentration of 40% (w/v) was injected and was able to adhere to defect sites at body temperature.

Transient pupillary light reflex in relation to fundus autofluorescence and dark-adapted perimetry in typical retinitis pigmentosa.

Purpose: To determine whether the pupillary light reflex (PLR) can serve as an indicator of photoreceptor function in patients with advanced typical retinitis pigmentosa (RP).

Methods: Dark-adapted transient PLRs elicited by blue or white light over a luminance range of 4 log units were recorded from 27 eyes of 19 patients with advanced RP. Retinas were characterized according to fundus autofluorescence (AF) and dark-adapted perimetry.

The characterization of functional disturbances in Chinese patients with Bietti's crystalline dystrophy at different fundus stages.

Purpose: The aim of this study was to characterize the functional and clinical disturbances and screen the optimal functional tests in assessing Bietti's crystalline dystrophy (BCD) patients by a cross-sectional method.

Methods: The clinical characteristics of BCD were studied in 15 Chinese patients using fundoscopy, fundus fluorescein angiography (FFA), and autofluorescence (AF). The functional features were evaluated by full-field electroretinography (fERG), 85º and 30º perimetry, multifocal ERG (mERG), and chromatic pupillometry.

Mutational analysis of the rhodopsin gene in Chinese ADRP families by conformation sensitive gel electrophoresis.

Retinitis pigmentosa is a very heterogeneous group of retinal degenerations, with multiple genes identified in each mode of inheritance. For autosomal dominant retinitis pigmentosa (ADRP), the most common gene is the rhodopsin (RHO) gene, mutations in which contribute to about 25% of ADRP in Caucasian population. To investigate the frequency and pattern of RHO point mutations in Chinese patients with ADRP, we have screened the five coding exons and splice sites of the RHO gene in 50 unrelated probands from Chinese ADRP families and 100 normal controls to identify disease-associated mutations, using conformation sensitive gel electrophoresis (CSGE) and direct DNA sequencing.