Expanding the Phenotypic and Genotypic Landscape of Nonsyndromic High Myopia: A Cross-Sectional Study in 731 Chinese Patients
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Authors: Cai, Xue-Bi; Zheng, Yi-Han; Chen, De-Fu; Zhou, Fang-Yue; Xia, Lu-Qi; Wen, Xin-Ran; Yuan, Yi-Min; Han, Fang; Piao, Shun-Yu; Zhuang, Wenjuan; Lu, Fan; Qu, Jia; Yu, A-Yong; Jin, Zi-Bing
Abstract
PURPOSE. High myopia (HM) is defined as a refractive error worse than -6.00 diopter (D). This study aims to update the phenotypic and genotypic landscape of nonsyndromic HM and to establish a biological link between the phenotypic traits and genetic deficiencies. METHODS. A cross-sectional study involving 731 participants varying in refractive error, axial length (AL), age, myopic retinopathy, and visual impairment. The phenotypic traits were analyzed by four ophthalmologists while mutational screening was performed in eight autosomal causative genes. Finally, we assessed the clinical relevance of identified mutations under the guidance of the American College of Medical Genetics and Genomics. RESULTS. The relationship between refractive error and AL varied in four different age groups ranging from 3- to 85-years old. In adult groups older than 21 years, 1-mm increase in AL conferred 10.84% higher risk of pathologic retinopathy (Category >= 2) as well as 7.35% higher risk of low vision (best-corrected visual acuities <0.3) with P values < 0.001. The prevalence rates of pathologic retinopathy and low vision both showed a nonlinear positive correlation with age. Forty-five patients were confirmed to harbor pathogenic mutations, including 20 novel mutations. These mutations enriched the mutational pool of nonsyndromic HM to 1.5 times its previous size and enabled a statistically significant analysis of the genotype-phenotype correlation. Finally, SLC39A5, CCDC111, BSG, and P4HA2 were more relevant to eye elongation, while ZNF644, SCO2, and LEPREL1 appeared more relevant to refracting media. CONCLUSIONS. Our findings shed light on how multiple HM-related phenotypes are associated with each other and their link with gene variants.
Ultrasound processing of coffee silver skin, brewer's spent grain and potato peel wastes for phenolic compounds and amino acids: a comparative study
JOURNAL OF FOOD SCIENCE AND TECHNOLOGY-MYSORE
Authors: Zhang, Zhihang; Poojary, Mahesha M.; Choudhary, Alka; Rai, Dilip K.; Lund, Marianne N.; Tiwari, Brijesh K.
Abstract
Awareness towards utilizing food-processing by-products are increasing in health as well as environmental purview. Coffee silver skin (CSS), potato peel (PP) and brewer's spent grain (BSG) are voluminous by-products in their respective processing industries. The present study compared these three by-products for their prospective utilization in producing polyphenols-rich aqueous extracts by using ultrasound-assisted extractions (UAE). A probe-type sonicator was used for ultrasound treatments. The total phenolic contents in the extracts were assessed by Folin-Ciocalteu assay, while the phenolic profiles of the extract was characterized by LC-Q-TOF mass spectrometry. The microstructure of the samples after UAE was evaluated by scanning electron microscopy (SEM). Ultrasound treatment enhanced the rate of extraction and recovered 2.79, 2.12 and 0.66 mg gallic acid equivalents/g of TPC from CSS, PP and BSG, respectively in 30 min, which correspond to recoveries of 97.6%, 84.5% and 84.6%, respectively, compared to conventional solid-liquid extractions carried out for 24 h. The extraction yield was dependent on the particle size of the raw materials and the highest yield was obtained from the materials with 100-250 mu m particle size. The SEM imaging revealed that ultrasound treatment caused prominent tissue damage. Extracts contained mainly hydroxycinnamic acid derivatives of phenolic acids. PP and CSS had the highest amounts of umami free amino acids (0.13 mg/g in each), while BSG contained the highest amount of essential amino acids (92 mg/g). The present work shows that CSS, PP and BSG are good sources of polyphenols and UAE can be employed to enhance the extraction efficiency as means of a green approach.