Results 41 to 50 of about 454,782 (154)

The Tutopatch® assisted surgery for complex strabismus study: TASCS‐study

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate the efficacy of tendon elongation using bovine pericardium (Tutopatch®) in complex strabismus surgeries, with a specific focus on longer follow‐up of postoperative outcomes and patient satisfaction. Methods In this pre‐post cohort study, the records of all patients who underwent tendon elongation strabismus surgery with ...
Ires A. W. Verhees, Hinke Marijke Jellema, Anne‐Marie E. L. Langenhorst, B. Jeroen Klevering, Laurentius J. van Rijn, Annabel L. W. Groot   +5 more
wiley   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, EarlyView.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source

Initial overcorrection after surgery for intermittent exotropia in children less than 4 years old: Comparison with older children.

PLoS ONE, 2021
PurposeWhile initial overcorrection after exotropia-correcting surgery is widely accepted for a favorable long-term outcome, some have not advocated such overcorrection in younger children owing to concerns regarding rapid deterioration of bifixation ...
Jinju Choi, Dong Gyu Choi
doaj   +1 more source

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants

Clinical Genetics, Volume 110, Issue 3, Page 325-335, September 2026.
SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel, Xiaonan Zhao, Nichole M. Owen, Tia Gordon, Mahshid S. Azamian, Eric C. Kao, Fan Xia, Xi Luo, Jill A. Rosenfeld, Seema R. Lalani, Allison P. Ortega, Steven B. Bleyl, Florence Petit, Sulekha Rajagopolan, Bénédicte Demeer, Meredith K. Gillespie, Lijia Huang, Matthew Osmond, Kym M. Boycott, Kyra E. Stuurman, Marjon A. van Slegtenhorst, Haley Soller, Céline Jost, Aurore Garde, Hana Safraou, Laurence Faivre, Victor Faundes, Daryl A. Scott   +27 more
wiley   +1 more source

Botulinum toxin chemodenervation for childhood strabismus in England: National and local patterns of practice. [PDF]

PLoS ONE, 2018
BackgroundBotulinum toxin injection chemodenervation is a well-established intervention for adult strabismus, and has also been recognised as an effective alternative to routine incisional surgery for paediatric disease.
Ameenat Lola Solebo, Anne-Marie Austin, Maria Theodorou, Chris Timms, Joanne Hancox, Gillian G W Adams   +5 more
doaj   +1 more source

Common Forms of Childhood Esotropia

, 2001
Objective: To determine the most common forms of childhood esotropia. Design: Prospective, consecutive, observational case series. Participants: All esotropic children younger than 11 years of age from a predominantly rural Appalachian region evaluated ...
Mohney, Brian G.
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Is hypermetropia regressing in accommodative esotropia?

, 2021
Purposes: To evaluate the relationship of changes in hypermetropia and ocular alignment in patients with accommodative esotropia. Methods: The medical records of consecutive patients diagnosed with refractive accommodative esotropia (esotropia ...
Yulek, Fatma, Yuzbasioglu, Sema, Yulek,Fatma, Eyidogan,Demet, Eyidogan, Demet, Yuzbasioglu,Sema   +5 more
core   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, Volume 11, Issue 4, Page 1184-1199, August 2026.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source