Results 41 to 50 of about 44,744 (292)

The Role of Social Media in Strabismus Surgical Experience

open access: yes, 2023
Purpose: To understand patients' strabismus surgery experience, including its impact on patients' appearance and psychosocial factors such as anxiety and depression, via trends on popular social media platforms.Methods:TikTok and Instagram were searched ...
Al-Khersan, Hasenin   +11 more
core   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

An Influence of Birth Weight, Gestational Age, and Apgar Score on Pattern Visual Evoked Potentials in Children with History of Prematurity

open access: yesNeural Plasticity, 2015
Purpose. The objective of our study was to examine a possible influence of gestational age, birth weight, and Apgar score on amplitudes and latencies of P100 wave in preterm born school-age children. Materials and Methods. We examined the following group
Marta Michalczuk   +4 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina   +11 more
wiley   +1 more source

Correlation between ocular biological parameters and cycloplegic refractive shift in pediatric myopia [PDF]

open access: yesInternational Journal of Ophthalmology
AIM: To analyze the correlation between ocular biometric parameters and cycloplegic refractive shift (ΔSE) and to provide evidence for clinical decision-making regarding cycloplegic refraction in pediatric myopia management.
Zhi-Hui Li   +6 more
doaj   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier   +6 more
wiley   +1 more source

Medical expenditure for strabismus: a hospital-based retrospective survey

open access: yesCost Effectiveness and Resource Allocation, 2022
Background and aims The misconception of the purpose of strabismus treatment has, on the one hand, affected the motivation of strabismus patients to seek care and, on the other hand, has resulted in strabismus not being covered by health insurance, both ...
Lei Yang   +5 more
doaj   +1 more source

Terahertz Channel Modeling, Estimation and Localization in RIS‐Assisted Systems

open access: yesAdvanced Electronic Materials, EarlyView.
Reconfigurable intelligent surfaces have become a recent intensive research focus. Based on practical applications, channel strategies for RIS‐assisted terahertz wireless communication systems are categorized into three different types: channel modeling, channel estimation, and channel localization.
Hongjing Wang   +9 more
wiley   +1 more source

Congenital cataracts presenting as a childhood squint

open access: yesBritish and Irish Orthoptic Journal, 2012
Aim:  A timely reminder that a small posterior subcapsular cataract could present with a squint. Methods:  A case series is reported of 4 patients who were referred to the paediatric ophthalmology service for management of a squint.
Shanel Sharma   +2 more
doaj   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li   +25 more
wiley   +1 more source

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