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

