Results 41 to 50 of about 5,517 (177)

Clinical and Neurodevelopmental Course in a Case of EFNB1‐Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
A 14‐year‐old individual presented with an uncorrected bicoronal craniosynostosis that was diagnosed during clinical examination. She had craniofrontonasal syndrome (CFNS) with facial dysmorphology, microcephaly, and mild intellectual disability. Her CFNS was explained by a likely pathogenic variant in EFNB1.
Dominique L. Assing, Danielle E. Jolly, Sarah Gluschitz, Beverly Nelson, Dong Li, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Andrew K. Sobering   +7 more
wiley   +1 more source

Surgical correction of closed simple metatarsal fractures in a pet rabbit (Oryctolagus cuniculus) with intramedullary pins

Veterinary Record Case Reports, Volume 14, Issue 2, May 2026.
Abstract A 4‐month‐old pet rabbit was presented with intermittent left pelvic limb lameness, painful and swollen left metatarsal region. Radiographs revealed complete simple fractures of the left metatarsal bones II, III and IV. Open reduction and internal fixation were performed using intramedullary pins.
Dimitri Alarcon, Marie Fournier, Patricia Muffat‐es‐Jacques, Charly Pignon   +3 more
wiley   +1 more source

An iatrogenic proximal radioulnar synostosis: a case report and review of literature

Chinese Journal of Traumatology, 2014
The most common cause of proximal radioulnar synostosis in adults is traumatic, usually after forearm fractures. Disabling complications are mainly loss of rotatory movements of the forearm.
Singh Varun Kumar
doaj  

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, Volume 13, Issue 22, 17 April 2026.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source

Cortical Bone Loss in Barcelona Across Time (1st Century CE–18th Century CE) and Its Potential Relationship With Linear Enamel Hypoplasia

American Journal of Biological Anthropology, Volume 189, Issue 4, April 2026.
ABSTRACT Objectives The purpose of this study is to conduct a diachronic analysis of cortical bone loss in Barcelona, spanning from the 1st to 18th century CE, assessing the relationship between cortical bone loss and early‐life stressors, as indicated by linear enamel hypoplasia (LEH) across Roman, Late Antiquity, Medieval, and Modern periods and ...
Antony Cevallos, Alexandre Tarragó, Carme Rissech   +2 more
wiley   +1 more source

Dynamics of postnatal bone development and epiphyseal synostosis in the caprine autopod

Developmental Dynamics, Volume 255, Issue 4, Page 417-429, April 2026.
Abstract Background Bones develop to structurally balance strength and mobility. Bone developmental dynamics are influenced by whether an animal is ambulatory at birth. Precocial species, which are ambulatory at birth, develop advanced skeletal maturity in utero and experience postnatal development under mechanical loading.
Christopher J. Panebianco, Maha Essaidi, Elijah Barnes, Ashley Williams, Karin Vancíková, Margot C. Labberté, Pieter Brama, Niamh C. Nowlan, Joel D. Boerckel   +8 more
wiley   +1 more source

Classification of Subtypes of Apert Syndrome, Based on the Type of Vault Suture Synostosis

Plastic and Reconstructive Surgery, Global Open, 2019
Background:. Apert syndrome patients are different in clinical pathology, including obstructive sleep apnea, cleft palate, and mental deficiency. These functional deficiencies may be due to anatomic deformities, which may be caused by different forms of ...
Xiaona Lu, MD, Rajendra Sawh-Martinez, MD, MHS, Antonio Jorge Forte, MD, Robin Wu, BS, Raysa Cabrejo, BS, Alexander Wilson, BS, Derek M. Steinbacher, MD, DMD, Michael Alperovich, MD, Nivaldo Alonso, MD, PhD, John A. Persing, MD   +9 more
doaj   +1 more source

Holoprosencephaly with Multiple Anomalies of the Craniofacial Bones-An Autopsy Report [PDF]

Journal of Clinical and Diagnostic Research, 2013
Holoprosencephaly (HPE), a disorder which results from a failure of cleavage or the incomplete differentiation of the forebrain structures at various levels or to various degrees, is related to hereditary factors, chromosomal anomalies, cytogenetic ...
E. Aruna, V. Kalyan Chakravarthy, D. Naveen Chandar Rao, D. Ranga Rao   +3 more
doaj   +1 more source

Bony Union in Maxilla and Mandible Free Flap Reconstruction: A Systematic Review and Meta‐Analysis

Head &Neck, Volume 48, Issue 4, Page 1113-1129, April 2026.
ABSTRACT Background Bony nonunion is an important complication in head and neck reconstruction, but its definition, incidence, and treatment are not well‐reported. Methods MEDLINE, Embase, CENTRAL, and Web of Science were searched from October 1st, 1990 to January 6th, 2025 for studies reporting bony union for maxilla or mandible reconstruction with ...
Khanh Linh Tran, Zora Heer, Harkaran Singh Dial, Cornelius Kürten, Brian Ma, Alex Chen, Natalie Mezey, Masih Sarafan, Sidney S. Fels, Antony J. Hodgson, Farahna Sabiq, J. Scott Durham, Eitan Prisman   +12 more
wiley   +1 more source

A congenital fibular notch synostosis of the left distal leg: a case report [PDF]

Journal of Research in Applied and Basic Medical Sciences
Background & Aims: Tibiofibular synostosis is an infrequent, limb malformation that is non-syndromic and illustrated by the union of the proximal or distal tibia and union of the proximal or distal tibial and fibular metaphysis and/ or diaphysis ...
Olubunmi Balogun, Oladayo oyedun, Olaniran Morakinyo, Olusegun Ajeleti, Olaleye Olabiyi, Gideon Ojo, Abayomi Olubintan   +6 more
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