Results 51 to 60 of about 51,161 (263)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Comparison of myopia-related behaviors among Chinese school-aged children and associations with parental awareness of myopia control: a population-based, cross-sectional study

Frontiers in Public Health
BackgroundIn China, approximately 30 and 70% of primary and middle school students, respectively, have myopia, making myopia prevention and control necessary. Eye-use behaviors are closely related to myopia, highlighting the importance of determining the
Chaoying Ye, Chaoying Ye, Chaoying Ye, Yujie Wang, Yujia Liu, Yujia Liu, Yujia Liu, Xingxue Zhu, Xingxue Zhu, Xingxue Zhu, Jianmin Shang, Jianmin Shang, Jianmin Shang, Xiaomei Qu, Xiaomei Qu, Xiaomei Qu   +15 more
doaj   +1 more source

Silibinin declines blue light-induced apoptosis and inflammation through MEK/ERK/CREB of retinal ganglion cells

Artificial Cells, Nanomedicine, and Biotechnology, 2019
Purpose This study aimed to assess the protective effects of silibinin on blue light-emitting diode (LED)-induced retinal ganglion cells (RGCs) damage.Methods Silibinin was applied in RGCs damage in vitro model to test its protective effects.
Ying Shen, Haixia Zhao, Zhaoge Wang, Wenying Guan, Xin Kang, Xue Tai, Yaru Sun   +6 more
doaj   +1 more source

Data on assessment of safety and tear proteome change in response to orthokeratology lens – Insight from integrating clinical data and next generation proteomics

Data in Brief, 2020
Breath-O™ Correct Ortho-K lenses are newly designed ortho-K lenses which are made from a silicon and fluoride containing methacrylate compound. This compound is said to be more flexible, durable and less likely to break compared to traditional Ortho-K ...
Jimmy Sung-Hei Tse, Thomas Chuen Lam, Jimmy Ka-Wai Cheung, Ying-Hon Sze, Tsz-King Wong, Henry Ho-Lung Chan   +5 more
doaj   +1 more source

Ophthalmic services in Shanghai 2017: a cataract-centric city-wide government survey

BMC Health Services Research, 2021
Background Demand for eye care has increased in recent decades in China due to rapid socioeconomic development and demographic shift. Knowledge of output and productivity of ophthalmic services would allow policymakers to optimize resource allocation ...
Xiangjia Zhu, Yu Du, Wenwen He, Jinhui Dai, Minjie Chen, Peijun Yao, Han Chen, Hui Ren, Yuan Fang, Shensheng Tan, Yi Lu   +10 more
doaj   +1 more source

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Ocular biometric parameter characteristics and influence on refractive power in Chinese children [PDF]

International Journal of Ophthalmology
AIM: To analyze ocular parameters and refractive status in children aged 3-12y and to explore differences in these parameters across age groups with identical refractive status for studying refractive progression.
Chao-Ying Ye, Yu-Jia Liu, Wen-Qian Xing, Jian-Min Shang, Yang-Fan Xu, Xiao-Mei Qu   +5 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

CRISPR-CasRx-mediated disruption of Aqp1/Adrb2/Rock1/Rock2 genes reduces intraocular pressure and retinal ganglion cell damage in mice

Nature Communications
Glaucoma affects approximately 80 million individuals worldwide, a condition for which current treatment options are inadequate. The primary risk factor for glaucoma is elevated intraocular pressure.
Mingyu Yao, Zhenhai Zeng, Siheng Li, Zhilin Zou, Zhongxing Chen, Xinyi Chen, Qingyi Gao, Guoli Zhao, Aodong Chen, Zheng Li, Yiran Wang, Rui Ning, Colm McAlinden, Xingtao Zhou, Jinhai Huang   +14 more
doaj   +1 more source

The observation during small incision lenticule extraction for myopia with corneal opacity

BMC Ophthalmology, 2017
Background To evaluate the feasibility and efficacy of small incision lenticule extraction (SMILE) in the treatment of myopia with corneal opacity. Methods To evaluate the treatment of myopia with corneal opacity, 9 patients (4 males, 5 females) who ...
Shaowei Zhang, Haipeng Xu, Ke Zheng, Jing Zhao, Weijun Jian, Meiyan Li, Xingtao Zhou   +6 more
doaj   +1 more source