Results 51 to 60 of about 3,270 (229)

Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1

Birth Defects Research, Volume 117, Issue 2, February 2025.
ABSTRACT Objectives Chiari malformation type 1 (CMI) is defined by the herniation of cerebellar tonsils of 5 mm or more, with possible neurological consequences, including compression of the neural tissue and/or anomalies in cerebral spinal fluid circulation. The etiology of CMI is not fully elucidated, with both genetic and environmental factors being
Ferruccio Romano, Maria Cerminara, Patrizia De Marco, Michele Iacomino, Marco Di Duca, Domenico Tortora, Marco Pavanello, Gianluca Piatelli, Marcello Scala, Federico Zara, Aldamaria Puliti, Valeria Capra   +11 more
wiley   +1 more source

Exotropia Is the Main Pattern of Childhood Strabismus Surgery in the South of China: A Six-Year Clinical Review

Journal of Ophthalmology, 2016
Purpose. To evaluate the distribution pattern and changes of strabismus surgery in children based on the data collected from a local eye hospital in the south of China between 2006 and 2011. Methods.
Xinping Yu, Zhouduo Ji, Huanyun Yu, Meiping Xu, Jinling Xu   +4 more
doaj   +1 more source

Disorders of fatty acid homeostasis

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous synthesis from acetyl‐CoA, although some FA are solely derived from exogenous sources (“essential FA”). Once inside cells, FA may undergo a wide variety of different modifications, which include their activation to their corresponding CoA ester, the introduction of
Frédéric M. Vaz, Sacha Ferdinandusse, Gajja S. Salomons, Ronald J. A. Wanders   +3 more
wiley   +1 more source

Distance stereoacuity in intermittent exotropia [PDF]

British Journal of Ophthalmology, 2007
Studies of distance stereoacuity in intermittent exotropia suggest that normal stereoacuity corresponds to good control of the deviation and that reduced or negative stereoacuity signifies poorer control.: To evaluate distance stereoacuity in intermittent exotropia using the Frisby Davis Distance stereo test (FD2).Children with intermittent exotropia ...
Hatt SR, Haggerty H, Buck D, Adams W, Strong NP, Clarke MP   +5 more
openaire   +4 more sources

Prevalence of visual abnormalities detected through paediatric vision screening in Queensland, Australia

Clinical &Experimental Ophthalmology, Volume 53, Issue 1, Page 18-25, January/February 2025.
Abstract Background Vision screening programs can provide epidemiological information regarding visual impairment in children. This study aims to report the characteristics of visual abnormalities diagnosed through the Primary School Nurse Health Readiness Program (PSNHRP) in Queensland, Australia.
Ye Li, Shelley Duffy, Sagen Wilks, Rachel Keel, Rachael Beswick, Shuan Dai   +5 more
wiley   +1 more source

Ocular Neuromyotonia—A Rare but Reversible Cause of Intermittent Diplopia

Movement Disorders Clinical Practice, EarlyView.
Parthvi Ravat, Paul Stockle, Mahadya Rahman, Pegah Ahmadiyan Ardestani, Andrew Lee   +4 more
wiley   +1 more source

Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes

American Journal of Medical Genetics Part A, Volume 194, Issue 12, December 2024.
Abstract Exome sequencing (ES) has emerged as an essential tool in the evaluation of neurodevelopmental disorders (NDD) of unknown etiology. Genome sequencing (GS) offers advantages over ES due to improved detection of structural, copy number, repeat number and non‐coding variants.
Tomoki T. Nomakuchi, Eden Y. Teferedegn, Dong Li, Kayla J. Muirhead, Holly Dubbs, Jacqueline Leonard, Colleen Muraresku, Emily Sergio, Kaley Arnold, Amy Pizzino, Cara M. Skraban, Elaine H. Zackai, Kai Wang, Rebecca D. Ganetzky, Adeline L. Vanderver, Rebecca C. Ahrens‐Nicklas, Elizabeth J. K. Bhoj   +16 more
wiley   +1 more source

Early Results of Slanted Recession of the Lateral Rectus Muscle for Intermittent Exotropia with Convergence Insufficiency

Journal of Ophthalmology, 2015
The aim of this study was to evaluate the efficacy of slanted recession of the lateral rectus muscle for intermittent exotropia with convergence insufficiency. This prospective study included 31 patients who underwent slanted lateral rectus recession for
Bo Young Chun, Kyung Min Kang
doaj   +1 more source

Ophthalmic manifestations of NAA10‐related and NAA15‐related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors

American Journal of Medical Genetics Part A, Volume 194, Issue 12, December 2024.
Abstract NAA10‐related (Ogden syndrome) and NAA15‐related neurodevelopmental syndrome are known to present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. However, the ophthalmic manifestations of NAA10 and NAA15 variants are not yet fully characterized or
Rahi Patel, Agnes Y. Park, Elaine Marchi, Andrea L. Gropman, Matthew T. Whitehead, Gholson J. Lyon   +5 more
wiley   +1 more source

Is intermittent exotropia a curable condition? [PDF]

Eye, 2014
Surgical treatment of childhood intermittent exotropia (XT) is associated with high recurrence rates. In addition, the natural history of intermittent XT has not been rigorously studied and, anecdotally, some cases resolve without surgery. We compared long-term cure rates in children with surgically and non-surgically managed intermittent XT.
J. M. Holmes, Sarah R. Hatt, David A. Leske   +2 more
openaire   +3 more sources