Results 51 to 60 of about 171,004 (343)

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, EarlyView.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source

Role of echography in diagnostic dilemma in choroidal masses

Indian Journal of Ophthalmology, 2014
Purpose: To evaluate the role of echography in diagnosis and management of a diverse array of choroidal masses. Materials and Methods: Sixty-two cases of clinically suspected choroidal masses were prospectively analyzed with B-scan (10 Hz), A-scan, and ...
Kopal N Mithal, Hansa H Thakkar, Mudit A Tyagi, Rekha M Bharwada, Puja O Billore   +4 more
doaj   +1 more source

Inhaled Corticosteroid Exposure and Risk of Cataract in Patients with Asthma and COPD: A Systematic Review and Meta-Analysis

Journal of Ophthalmology, 2023
Purpose. Both systemic and inhaled corticosteroids may increase the risk of cataract in patients with both chronic obstructive pulmonary disease (COPD) and asthma.
Osman Savran, Charlotte Suppli Ulrik
doaj   +1 more source

Adapted motivational interviewing to improve the uptake of treatment for glaucoma in Nigeria: study protocol for a randomized controlled trial. [PDF]

, 2014
BACKGROUND: Glaucoma is a chronic eye disease associated with irreversible visual loss. In Africa, glaucoma patients often present late, with very advanced disease.
A Ashaye, A Lam, A Lawan, AE Omoti, AM Agbeja-Baiyeroju, AP Rotchford, AT Giorgis, B Lundahl, BL Burke, Clare Gilbert, CT Ntim-Amponsah, DA Lee, DT La, G Smedslund, H Waterman, HA Quigley, J Lacey, JD Verrey, Jennifer Evans, Jim McCambridge, KP Balo, L Mitcheson, M Kroese, M Mafwiri, MC Leske, MM Abdull, Mohammed M Abdull, N Anand, PF Cook, PJ Foster, RA Charalel, RS Ramrattan, S Rollnick, S Vistamehr, SA Vernon, T Moyers, T Munder, T Wykes, TC Montreuil, The AGIS Investigators, WR Miller, WR Miller   +41 more
core   +3 more sources

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Supraciliary contraction segments: A new method for the treatment of presbyopia

Indian Journal of Ophthalmology, 2014
Background and Objective: To evaluate the safety and effectiveness of supraciliary contraction segment implants (SCSIs) for the treatment of presbyopia. Materials and Methods: This prospective, non-comparative study comprised 10 eyes from five phakic and
Zeki Tunc, Firat Helvacioglu, Yesim Ercalik, George Baikoff, Sadik Sencan   +4 more
doaj   +1 more source

Accidental intralenticular dexamethasone intravitreal implant with the resolution of macular oedema in central retinal vein occlusion [PDF]

, 2016
No abstract ...
Abdolrahimzadeh, Solmaz, Plateroti, ANDREA MARIA, Plateroti, Pasquale, Scarinci, Fabio   +3 more
core   +1 more source

Efficacy of Telitacicept in Childhood‐Onset Systemic Lupus Erythematosus: A Prospective Multicenter Cohort Study With Inverse Probability of Treatment Weighting –Adjusted Comparison to a Historical Control Group Treated With Belimumab

Arthritis &Rheumatology, EarlyView.
Objective The therapeutic effects of telitacicept combined with standard of care (SoC) in childhood‐onset systemic lupus erythematosus (cSLE) remain unclear. This study aims to evaluate its efficacy in comparison with belimumab combined with SoC.
Chong Luo, Shu Su, Jingyue Liu, Junyu Lin, Jin Song, Zongwen Chen, Yuanyuan Peng, Lijun Jiang, Meng Jia, Li Wang, Xinhui Jiang, Wei Zhang, Zanhua Rong, Bo Zhao, Yajun Wang, Xuemei Tang   +15 more
wiley   +1 more source

Modified silicone sling assisted temporalis muscle transfer in the management of lagophthalmos

Indian Journal of Ophthalmology, 2014
Aim : To evaluate the efficacy of modified temporalis muscle transfer (TMT) by silicone sling for the management of paralytic lagophthalmos. Settings and Design: Prospective interventional study.
Ramesh C Gupta, Raj NS Kushwaha, Ina Budhiraja, Priyanka Gupta, Parul Singh   +4 more
doaj   +1 more source

Cataract Blindness: Socioeconomic Factors Associated with Treatment Barriers and High Blindness Rates for Women in Rural Regions of Andhra Pradesh [PDF]

, 2018
Despite efforts of Vision 2020 in India, the 2001 Andhra Pradesh Eye Disease Study (APEDS) extrapolated that approximately 18.7 million blind people resided in India and projected an increase to 31.6 million blind people by 2020.
Kaur, Kiranpreet
core   +1 more source