Research Appraisals
Evidence-based critical appraisals of the latest medical research, systematically evaluated using Oxford CEBM methodology.
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Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Genetics versus environment in the pathophysiology of sagittal synostosis
PURPOSE: This systematic review aims to provide an updated overview of the relative contribution of germline genetic and environmental factors to the pathophysiology of sagittal craniosynostosis (sCS). METHODS: Using the PubMed database in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, relevant studies addressing genetic and/or environmental determinants of sCS in paediatric patients were systematically reviewed. RESULTS: A total of 1238 records were identified, of which 97 studies met inclusion criteria after full-text review. Overall, 25,877 patients were included, with 11,086 diagnosed with sCS (42.8%). Germline genetic variants potentially associated with craniosynostosis were reported in 251 patients, accounting for 12.6% of genetically tested individuals with sCS. Identified variants were distributed across 125 genes, with recurrent findings in 25 genes. Environmental and perinatal factors were more consistently reported across large population-based and case-control studies. Frequently associated factors included male sex, advanced maternal age, maternal smoking, thyroid dysfunction, fertility treatments, foetal constraint, prematurity, and abnormal birth weight, although effect sizes varied across studies. CONCLUSION: Identifiable germline genetic causes appear to account for only a minority of sCS cases, whereas epidemiological evidence suggests that environmental and perinatal influences may also contribute to disease pathogenesis. Nevertheless, most cases lack identifiable germline mutations in key signalling pathways, and the available evidence does not support either genetic or environmental factors as individually deterministic drivers of disease development. Overall, the evidence synthesized in this review supports a multifactorial model for sCS, in which rare genetic susceptibility and non-genetic influences likely interact in the etiopathogenesis of the condition rather than reflecting a single dominant aetiology. However, heterogeneity across studies, differences in genetic testing methodologies, potential bias in exposure assessment, and the limited availability of integrative analyses restrict definitive conclusions regarding the relative contribution of these factors.
19 July 2026
Read appraisal →Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Postoperative raised ICP after minimally invasive surgery for monosutural craniosynostosis
INTRODUCTION: Minimally invasive craniectomies (MIC) for monosutural craniosynostosis are more and more used. Their results are usually investigated in terms of surgical, esthetic, and neuropsychological outcomes but not specifically about the risk of postoperative raised intracranial pressure (ICP). The goal of this article is to review the literature and the personal experience looking for the possible risk of postoperative raised ICP after MIC. METHODS: A systematic review adhering to PRISMA guidelines was realized. In parallel, the personal experience concerning scaphocephalic children consecutively operated on between 2010 and 2013 by MIC was analyzed. Children operated on by open cranial vault remodeling (OCVR) in the same period were considered as controls. RESULTS: Overall, 3048 patients from 14 studies were included, 5% of them requiring a reoperation after a 59.9-month mean follow-up. A total of 2297 children were treated by MIC: 2.8% (65 cases) showed postoperative raised ICP, the rate of reoperation was 4.4% (102 cases). The risk of reoperation varies across the techniques, being higher in modified or spring-assisted strip craniectomies (2.4-14.6%) than in endoscopy-assisted craniectomies (2.4%). Among 751 cases treated by OCVR, this risk varied from 0.95 to 7.1%. Also in the personal experience, no significant differences were found between MIC (1.5% of reoperation for raised ICP) and OCVR (0.8%). CONCLUSIONS: The risk of postoperative raised ICP seems to be relatively low after surgery for monosutural synostosis without a significant difference between MIC and OCVR. Missing standardized methods for postoperative screening, missing information about the reason of reoperation in some studies, and the retrospective analysis methods in most of them are the main limitations of this study.
13 May 2026
Read appraisal →Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
Machine learning-powered decoding of facial complexity: a diamond-and-triangle geometry for frontal facial analysis
Facial configuration is far more complicated and variable than the representations offered by a couple of conventionally used mathematic laws, necessitating development of a comprehensive and interracially comparable system for frontal facial analysis. In this study, based on morphological analysis of 33 Caucasian and 33 Asian female faces with high perceived facial attractiveness (i.e. facial esthetic appeal in frontal views), validated by independent layperson ratings, in contrast with 'ordinary' faces of 67 Caucasian and 67 Asian females, a machine learning-powered model, building on a diamond-and-triangle geometric framework, was constructed to decode the esthetic-determining facial traits and quantify the probability of a face conforming to the generally accepted attractiveness. The SVM models demonstrated excellent efficacy in this task, based on the input of 21 facial proportion indices derived from the diamond-and-triangle geometry. By interpreting the contribution of input features to each model's diagnosis, the Asian and Caucasian faces shared prioritization of proportional coordination of facial height with mid-facial width and outer canthal distance in determining facial harmony, and exhibited ethnicity-specific variations in hierarchical importance of other proportion indices. The highly coordinated diamond-and-triangle geometric framework distinguished the attractive faces from the ordinary, with cross-ethnic similarities between Caucasian and Asian females. The machine learning-powered model, integrated with the diamond-and-triangle geometry, provides references for cross-ethnic facial analysis and customized treatment planning.
4 May 2026
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