Results 31 to 40 of about 19,631 (243)

Occurrence of Oculo Cardiac Reflex During Strabismus Surgery

Delhi Journal of Ophthalmology, 2019
Purpose: To evaluate the occurrence of the oculocardiac reflex (OCR) and its associated risk factors during strabismus surgery at a tertiary referral center.
Gujjula Shalini, K. Chakrapani, Netra Harsha, Sairani Karanam, Srinivasarao Nambula   +4 more
doaj   +1 more source

To Evaluate Corneal Biomechanical Changes after Strabismus Surgery with Ocular Response Analyzer

Beyoglu Eye Journal, 2018
INTRODUCTION[|]Corneal biomechanical changes were also suspected and investigated after some scleral procedures but not after strabismus surgery. In this study we aimed to evaluate corneal biomechanical changes following strabismus procedures.with ocular
Ebru Demet Aygıt, Ali Demircan, Zeynep Alkın, Alper Agca, Birsen Gökyigit   +4 more
doaj   +1 more source

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

American Journal of Medical Genetics Part A, EarlyView.
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

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Complications of Strabismus Surgery

, 2016
Although a generally safe procedure, there are a myriad of complications that can occur during or after strabismus surgery. The complications are varied in their severity, with effects ranging from life-threatening to minor ocular surface irritation ...
Oriel Spierer, Craig A. McKeown, Spierer, Oriel, Cavuoto, Kara M, McKeown, Craig A, Kara M. Cavuoto   +5 more
core   +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

Incidence of strabismus, strabismus surgeries, and other vision conditions in Prader-Willi syndrome: data from the Global Prader-Willi Syndrome Registry

BMC Ophthalmology, 2021
Background There is a relative lack of information on the incidence and treatment of vision problems in Prader-Willi syndrome (PWS). Using data from the Global PWS Registry, we performed a cross-sectional study of vision problems in PWS.
Jessica E. Bohonowych, Caroline J. Vrana-Diaz, Jennifer L. Miller, Shawn E. McCandless, Theresa V. Strong   +4 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

The psychosocial benefits of corrective surgery for adults with strabismus

, 2006
Background: Few papers have addressed the psychological impact of strabismus in adults, with none comparing preoperative and postoperative data using standardised questionnaires relating surgical results and psychosocial outcomes.
Jackson, Sue, Morris, M., Harrad, R. A., Rumsey, Nichola   +3 more
core   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source