Results 11 to 20 of about 1,813 (126)

Intronic Single Nucleotide Polymorphisms in FGFR2 Gene Association With Non‐Syndromic Mandibular Retrognathism

open access: yesOrthodontics &Craniofacial Research, Volume 29, Issue 3, Page 538-545, June 2026.
ABSTRACT Objective Mandibular retrognathism (MR) is a skeletal malocclusion in which patients have a deficient mandibular length, resulting in a more posterior position of the mandible. We aimed to investigate the association between Single nucleotide polymorphisms (SNPs) in Fibroblast Growth Factor Receptor 2 (FGFR2) gene and MR in germans.
Caio Luiz Bitencourt Reis   +9 more
wiley   +1 more source

The Lived Experience of Delirium in a Critically Ill Child: A Narrative Study

open access: yesScandinavian Journal of Caring Sciences, Volume 40, Issue 2, June 2026.
ABSTRACT Background While the negative experience of intensive care delirium has been established in adults, paediatric delirium (PD) is increasingly being recognized internationally. Knowledge, however, is still lacking regarding the experience of delirium in critically ill children. Therefore, we wish to provide insight into the subjective experience
Rikke Louise Stenkjaer   +4 more
wiley   +1 more source

3D‐Printed High‐Fidelity Pediatric Mannequin for Rigid and Flexible Bronchoscopy Training on Difficult Airways

open access: yesEngineering Reports, Volume 8, Issue 5, May 2026.
The article describes the design and manufacturing process of a novel pediatric high‐fidelity pathological mannequin for clinical training on unanticipated difficult airway management using rigid and flexible bronchoscopy. The mannequin has been developed from the CT scans of a 19‐month‐old polysyndromic patient (Crouzon Syndrome), thanks to the ...
Marta Mencarelli   +5 more
wiley   +1 more source

Predicting Respiratory Complications for Day Case Paediatric Adenotonsillectomy

open access: yesANZ Journal of Surgery, Volume 96, Issue 5, Page 1140-1147, May 2026.
ABSTRACT Objectives To assess the effectiveness of a pre‐operative triaging model for paediatric adenotonsillectomy in identifying risk of early post‐operative respiratory complications, in order to propose an evidence‐based triaging model for day‐case paediatric adenotonsillectomy.
Clemente Chia   +3 more
wiley   +1 more source

Pathogenic Role of FGFR3 Autoantibodies in Small Fiber Neuropathy

open access: yesAdvanced Science, Volume 13, Issue 22, 17 April 2026.
Autoantibodies against fibroblast growth factor receptor 3 (FGFR3) are identified as pathogenic drivers of pain in small fiber neuropathy. By binding to sensory neurons in dorsal root ganglia, FGFR3 autoantibodies activate MAPK signaling and induce hyperexcitability and mechanical hypersensitivity, establishing FGFR3 autoantibodies as a therapeutic ...
Lyuba Y. Salih   +12 more
wiley   +1 more source

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens   +3 more
wiley   +1 more source

Divergent Mechanisms of Cranial Suture Ossification in Normal Development and Pathologic Fusion

open access: yesJournal of Cellular and Molecular Medicine, Volume 30, Issue 7, April 2026.
ABSTRACT Cranial sutures are dynamic growth sites that balance bone growth with mesenchymal patency to accommodate cranial expansion during development. While intramembranous ossification has traditionally been considered the default mechanism of suture fusion, accumulating evidence demonstrates that endochondral pathways might also play a significant ...
Anvith Reddy   +11 more
wiley   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 728-732, March 2026.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates   +6 more
wiley   +1 more source

An Innovative Transitional Care Unit for Hospital to Home Transition of Children With Medical Complexity: A Qualitative Study of Parents' Experiences

open access: yesChild: Care, Health and Development, Volume 52, Issue 2, March 2026.
ABSTRACT Background Hospital‐to‐home (H2H) transitions of children with medical complexity (CMC) are a multifaceted process with many challenges and obstacles, especially for parents. The ‘Jeroen Pit Huis’ (JPH) is a stand‐alone, innovative transitional care unit (TCU) that aims to improve the transition home.
Heleen N. Haspels   +6 more
wiley   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

open access: yesClinical Genetics, Volume 109, Issue 3, Page 424-436, March 2026.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari   +7 more
wiley   +1 more source

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