Results 71 to 80 of about 17,313 (195)

Partial amputation regrowth of P4 distal digit in an eastern grey kangaroo (Macropus giganteus): a case report

Australian Veterinary Journal, EarlyView.
This case report describes distal regrowth of the fourth hind digit (P4) following traumatic autoamputation in a young adult eastern grey kangaroo (Macropus giganteus). Injury to P4 is generally considered to carry a poor prognosis due to its critical role in weight‐bearing and propulsion during hopping.
L Cummins, G Cummins, J Clough, A Shen
wiley   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

Comparing the Effect of Supplemental 80% and 40% Oxygen on Postoperative Nausea and Vomiting in the Pediatrics Undergoing Strabismus Surgery [PDF]

Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2017
Background: Postoperative nausea and vomiting (PONV) is one of the most common complications in the patients undergoing strabismus surgery. The aim of current study was comparing supplemental 80% and 40% oxygen on reducing postoperative nausea and ...
Darioush Moradi Farsani, Khosro Naghibi, Mojtaba Rahimi Varposhti, Bahador Malekipoor, Tahereh Fasihi   +4 more
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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

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

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2010-2018, September 2026.
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, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +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, Volume 200, Issue 9, Page 2099-2105, September 2026.
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

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, Volume 200, Issue 9, Page 2067-2079, September 2026.
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

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

Ophthalmological outcomes, visual perception, fine motor precision, and visual‐motor integration in children born very preterm

Developmental Medicine &Child Neurology, Volume 68, Issue 9, Page 1228-1236, September 2026.
Children born very preterm with poorer ophthalmological function at 2 years 6 months, 6 years 6 months, and 12 years showed poorer visuo‐perceptual, visual‐motor, and fine motor skills at 12 years, emphasizing the role of visual input in visual‐motor development.
Martin Johansson, Eva Larsson, Gerd Holmström, Olga Kochukhova, Lena Hellström‐Westas, Ylva F. Kaul   +5 more
wiley   +1 more source

Does Topical Proparacaine Improve Postoperative Comfort After Strabismus Surgery?

Clinical Ophthalmology, 2019
Robert W Arnold,1 Aleah N Bond2 1Pediatric Ophthalmology and Strabismus, Alaska Children’s EYE & Strabismus, Anchorage, AK 99508, USA; 2Department of Anesthesiology, Wake Forest Baptist Medical Center, Winston-Salem, NC 27101, USACorrespondence:
Arnold RW, Bond AN
doaj