-
World Neurosurgery May 2022The use of three-dimensional (3D) printing in neurosurgery has become more prominent in recent years for surgical training, preoperative planning, and patient education.... (Review)
Review
BACKGROUND
The use of three-dimensional (3D) printing in neurosurgery has become more prominent in recent years for surgical training, preoperative planning, and patient education. Several smaller studies are available using 3D printing; however, there is a lack of a concise review. This article provides a systematic review of 3D models in use by neurosurgical residents, with emphasis on training, learning, and simulation.
METHODS
A structured literature search of PubMed and Embase was conducted using PRISMA guidelines to identify publications specific to 3D models trialed on neurosurgical residents. Criteria for eligibility included articles discussing only neurosurgery, 3D models in neurosurgery, and models specifically tested or trialed on residents.
RESULTS
Overall, 40 articles were identified that met inclusion criteria. These studies encompassed different neurosurgical areas including aneurysm, spine, craniosynostosis, transsphenoidal, craniotomy, skull base, and tumor. Most articles were related to brain surgery. Of these studies, vascular surgery had the highest overall, with 13 of 40 articles, which include aneurysm clipping and other neurovascular surgeries. Twenty-two articles discussed cranial plus tumor surgeries, which included skull base, craniotomy, craniosynostosis, and transsphenoidal. Five studies were specific to spine surgery. Subjective outcome measures of neurosurgical residents were most commonly implemented, of which results were almost unanimously positive.
CONCLUSIONS
3D printing technology is rapidly expanding in health care and neurosurgery in particular. The technology is quickly improving, and several studies have shown the effectiveness of 3D printing for neurosurgical residency education and training.
Topics: Craniosynostoses; Humans; Internship and Residency; Models, Anatomic; Neurosurgery; Neurosurgical Procedures; Printing, Three-Dimensional
PubMed: 34648984
DOI: 10.1016/j.wneu.2021.10.069 -
Journal of Stomatology, Oral and... Oct 2022Craniosynostoses affect 1/2000 births and their incidence is currently increasing. Without surgery, craniosynostosis can lead to neurological issues due to restrained...
INTRODUCTION
Craniosynostoses affect 1/2000 births and their incidence is currently increasing. Without surgery, craniosynostosis can lead to neurological issues due to restrained brain growth and social stigma due to abnormal head shapes. Understanding growth patterns is essential to develop surgical planning approaches and predict short- and long-term post-operative results. Here we provide a systematic review of normal and pathological cranial vault growth models.
MATERIAL AND METHODS
The systematic review of the literature identified descriptive and comprehensive skull growth models with the following criteria: full text articles dedicated to the skull vault of children under 2 years of age, without focus on molecular and cellular mechanisms. Models were analysed based on initial geometry, numerical method, age determination method and validation process.
RESULTS
A total of 14 articles including 17 models was reviewed. Four descriptive models were assessed, including 3 models using statistical analyses and 1 based on deformational methods. Thirteen comprehensive models were assessed including 7 finite element models and 6 diffusion models. Results from the current literature showed that successful models combined analyses of cranial vault shape and suture bone formation.
DISCUSSION
Growth modelling is central when assessing craniofacial architecture in young patients and will be a key factor in the development of future customized treatment strategies. Recurrent technical difficulties were encountered by most authors when generalizing a specific craniosynostosis model to all types of craniosynostoses, when assessing the role of the brain and when attempting to relate the age with different stages of growth.
Topics: Child; Cranial Sutures; Craniosynostoses; Head; Humans; Infant; Postoperative Period; Skull
PubMed: 35007781
DOI: 10.1016/j.jormas.2022.01.002 -
Journal of Plastic, Reconstructive &... Apr 2022This study aimed to determine the efficacy and harms of using tranexamic acid (TXA) versus placebo/no intervention to reduce blood loss and the need for transfusion in... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
This study aimed to determine the efficacy and harms of using tranexamic acid (TXA) versus placebo/no intervention to reduce blood loss and the need for transfusion in children undergoing surgical correction of craniosynostosis.
METHODS
We searched MEDLINE (OVID), EMBASE, LILACS, CENTRAL, and other sources. We included clinical trials, prospective, retrospective observational studies, case-control studies, and cohort studies. The primary outcomes were blood loss and the need for a transfusion, and secondary outcomes were hemoglobin, hematocrit, and adverse effects. We assessed the risk of bias with the Cochrane Collaboration tool. We performed the statistical analysis in R and reported information about the mean difference (MD) with a 95% confidence interval (CI). We evaluated heterogeneity with the I2 test. We produced forest plots to show the amount of evidence available for each outcome and made subgroup analyses.
RESULTS
We included 11 studies in qualitative and quantitative analysis accounting for 752 patients. In general, the risk of all bias was assessed as low for non-randomized studies, and we found high performance and detection bias in one randomized study. TXA significantly reduced blood loss and need for transfusion compared to placebo/no intervention with an MD of -15.47 (95%CI -23.82, -7.11) and -8.18 (95%CI -12.24, -4.11), respectively. These differences were maintained regardless of the type of study, secondary outcomes also favored TXA, and there was no report of adverse effects.
CONCLUSIONS
TXA reduces blood loss and the need for transfusion when compared to placebo/no intervention. The available studies on this topic suggest its use in these patients and its implementation in surgery protocols.
Topics: Antifibrinolytic Agents; Blood Loss, Surgical; Child; Craniosynostoses; Humans; Prospective Studies; Retrospective Studies; Tranexamic Acid
PubMed: 34949570
DOI: 10.1016/j.bjps.2021.11.064 -
Clinical Genetics Feb 2023Treacher Collins syndrome (TCS, OMIM: 154500) is a rare congenital craniofacial disorder that is caused by variants in the genes TCOF1, POLR1D, POLR1C, and POLR1B.... (Review)
Review
Treacher Collins syndrome (TCS, OMIM: 154500) is a rare congenital craniofacial disorder that is caused by variants in the genes TCOF1, POLR1D, POLR1C, and POLR1B. Studies on the association between phenotypic variability and their relative variants are very limited. This systematic review summarized the 53 literatures from PubMed and Scopus to explore the potential TCS genotype-phenotype correlations with statistical analysis. Studies reporting both complete molecular genetics and clinical data were included. We identified that the molecular anomaly within TCOF1 (88.71%) accounted for most TCS cases. The only true hot spot for TCOF1 was detected in exon 24, with recurrent c.4369_4373delAAGAA variant is identified. While the hot spot for POLR1D, POLR1C, and POLR1B were identified in exons 3, 8, and 15, respectively. Our result suggested that the higher severity level was likely to be observed in Asian patients harboring TCOF1 variants rather than POLR1. Moreover, common 5-bp deletions tended to have a higher severity degree in comparison to any variants within exon 24 of TCOF1. In summary, this report suggested the relationship between genetic and clinical data in TCS. Our findings could be used as a reference for clinical diagnosis and further biological studies.
Topics: Humans; DNA-Directed RNA Polymerases; Genetic Association Studies; Mandibulofacial Dysostosis; Mutation
PubMed: 36203321
DOI: 10.1111/cge.14243 -
PeerJ 2022FGF10, as an FGFR2b-specific ligand, plays a crucial role during cell proliferation, multi-organ development, and tissue injury repair. The developmental importance of...
FGF10, as an FGFR2b-specific ligand, plays a crucial role during cell proliferation, multi-organ development, and tissue injury repair. The developmental importance of has been emphasized by the identification of abnormalities in human congenital disorders affecting different organs and systems. Single-nucleotide variants in or -involving copy-number variant deletions have been reported in families with lacrimo-auriculo-dento-digital syndrome, aplasia of the lacrimal and salivary glands, or lethal lung developmental disorders. Abnormalities involving have also been implicated in cleft lip and palate, myopia, or congenital heart disease. However, the exact developmental role of and large phenotypic heterogeneity associated with disruption remain incompletely understood. Here, we review human and animal studies and summarize the data on mechanism of action, expression, multi-organ function, as well as its variants and their usefulness for clinicians and researchers.
Topics: Animals; Humans; Cleft Lip; Cleft Palate; Lacrimal Apparatus Diseases; Lacrimal Apparatus; Syndactyly; Lung Diseases; Fibroblast Growth Factor 10
PubMed: 36124135
DOI: 10.7717/peerj.14003 -
Child's Nervous System : ChNS :... Dec 2021The optimal protocol for diagnostic workup of craniosynostosis and the role of specific imaging modalities remain controversial. Skull X-rays and 3-dimensional head CTs... (Review)
Review
INTRODUCTION
The optimal protocol for diagnostic workup of craniosynostosis and the role of specific imaging modalities remain controversial. Skull X-rays and 3-dimensional head CTs are options when physical exam is equivocal but involve ionizing radiation. Ultrasound has emerged as an alternative modality for visualization of cranial sutures, but its use is not widespread.
METHODS
The authors performed a systematic review of the literature on the use of ultrasound for the diagnosis of craniosynostosis.
RESULTS
A total of 12 studies involving 1062 patients were included. Overall, 300 patients (28.2%) were diagnosed with craniosynostosis. A total of 369 (34.7%) patients had their diagnosis (craniosynostosis vs. patent sutures) confirmed with another imaging modality in addition to ultrasound. Among studies, the specificity of ultrasound ranged from 86 to 100%, and the sensitivity from 71 to 100%.
CONCLUSIONS
Ultrasonography of cranial sutures is a feasible and accurate tool for the diagnosis of single-suture craniosynostosis when physical exam findings are insufficient. Although technical aspects of ultrasonography and its interpretation have an associated learning curve, ultrasound can achieve high sensitivity and specificity among patients with suspected craniosynostosis.
Topics: Cranial Sutures; Craniosynostoses; Humans; Infant; Radiography; Sutures; Ultrasonography
PubMed: 34611761
DOI: 10.1007/s00381-021-05301-w -
Child's Nervous System : ChNS :... Mar 2023The objective of this literature review was to provide a comprehensive and up-to-date overview of the current understanding of the genetic etiology for non-syndromic... (Review)
Review
PURPOSE
The objective of this literature review was to provide a comprehensive and up-to-date overview of the current understanding of the genetic etiology for non-syndromic sagittal craniosynostosis.
METHODS
Using the PubMed database and Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA), we systematically reviewed relevant records on germline genetics in children with non-syndromic sagittal craniosynostosis.
RESULTS
Two hundred two records were identified, of which 25 were included following title and abstract screening and subsequent full-text review. The 25 records in combination included 829 children with non-syndromic sagittal craniosynostosis. A likely pathogenic or pathogenic germline variant was reported for 9.8% of the 827 patients for whom germline genetic testing was performed. The reported variants were distributed across 50 different genes, with more than one variant detected in 13 genes.
CONCLUSION
Based on the existing literature, genetic predisposition is likely to play a role in at least 9% of children with non-syndromic sagittal craniosynostosis. Future studies will benefit from international consensus in terms of diagnostic nomenclature and a higher level of standardization across study methodologies and bioinformatic approaches.
Topics: Child; Humans; Craniosynostoses; Genetic Testing; Genetic Predisposition to Disease; Databases, Factual
PubMed: 36400978
DOI: 10.1007/s00381-022-05736-9 -
Pediatric Neurosurgery 2022Craniosynostosis is a condition characterized by the premature fusion of 2 or more skull bones. Craniosynostosis of the lambdoid suture is one of the rarest forms,...
BACKGROUND
Craniosynostosis is a condition characterized by the premature fusion of 2 or more skull bones. Craniosynostosis of the lambdoid suture is one of the rarest forms, accounting for 1-4% of all craniosynostoses. Documented cases are separated into simple (single suture), complex (bilateral), and associated with adjacent synostoses ("Mercedes Benz" Pattern) or syndromes (i.e., Crouzon, Sathre-Chotzen, Antley-Bixler). This condition can manifest phenotypic deformities and neurological sequelae that can lead to impaired cognitive function if improperly treated or left undiagnosed. Preferred surgical techniques have varied over time but all maintain the common goals of establishing proper head shape and preventing of complications that could contribute to aforementioned sequelae.
SUMMARY
This comprehensive review highlights demographic distributions, embryological development, pathogenesis, clinical presentation, neurological sequelae, radiologic findings, surgical techniques, surgical outcomes, and postoperative considerations of patients with lambdoid craniosynostosis presentation. In addition, a systematic review was conducted to explore the operative management of lambdoid craniosynostosis using PubMed, Embase, and Scopus databases, with 38 articles included after screening. Key Messages: Due to a low volume of published cases, diagnosis and treatment can vary. Large overlap in presentation can occur in patients that display lambdoid craniosynostosis and posterior plagiocephaly, furthering the need for comprehensive analysis. Possessing the knowledge and tools to properly assess patients with lambdoid craniosynostosis will allow for more precise care and improved outcomes.
Topics: Cranial Sutures; Craniosynostoses; Humans; Infant; Neurosurgical Procedures; Plagiocephaly; Skull
PubMed: 34864743
DOI: 10.1159/000519175 -
International Journal of Pediatric... Oct 2021Craniosynostosis is a bony dysmorphism of the calvarium due to premature suture fusion and is classified as syndromic (part of congenital syndrome) or nonsyndromic... (Review)
Review
BACKGROUND
Craniosynostosis is a bony dysmorphism of the calvarium due to premature suture fusion and is classified as syndromic (part of congenital syndrome) or nonsyndromic (isolated). Deformational plagiocephaly (DP) is due to external positional forces on the skull after birth. This review aims to investigate the various quality of life (QoL) metrics across syndromic, nonsyndromic and DP patients.
METHODS
Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, a literature search was done through EMBASE, MEDLINE, PubMed and Web of Science. After two stages of screening by two authors, seventeen articles met inclusion criteria; 11 on syndromic, 4 nonsyndromic, and 2 DP.
RESULTS
The literature suggests syndromic patients have more severe consequences on QoL, especially on psychological well-being, social functioning, and obstructive sleep apnea (OSA), leading to behavioral difficulties. Nonsyndromic patients show a less clear trend across QoL measures, but a majority stated QoL is comparable to the general population. DP patients noted motor development and QoL improvement as well as improved subjective aesthetic outcomes after orthotic helmet molding therapy (HMT).
CONCLUSIONS
While a majority of literature classifies QoL in syndromic craniosynostosis alone, this review highlights the importance of these factors in nonsyndromic craniosynostosis and plagiocephaly patients. Psychological well-being, social functioning, and secondary health impacts such as OSA are important to consider in comprehensive craniofacial care in all calvaria deformities.
Topics: Craniosynostoses; Humans; Infant; Plagiocephaly; Plagiocephaly, Nonsynostotic; Quality of Life; Skull
PubMed: 34380097
DOI: 10.1016/j.ijporl.2021.110873 -
Paediatric Anaesthesia Feb 2021This article describes the methodology used for the Pediatric Craniofacial Collaborative Group (PCCG) Consensus Conference.
OBJECTIVE
This article describes the methodology used for the Pediatric Craniofacial Collaborative Group (PCCG) Consensus Conference.
DESIGN
This is a novel Consensus Conference of national experts in Pediatric Craniofacial Surgery and Anesthesia, who will follow standards set by the Institute of Medicine and using the Research and Development/University of California, Los Angeles appropriateness method, modeled after the Pediatric Critical Care Transfusion and Anemia Expertise Initiative. Topics related to pediatric craniofacial anesthesia for open cranial vault surgery were divided into twelve subgroups with a systematic review of the literature.
SETTING
A group of 20 content experts met virtually between 2019 and 2020 and will collaborate in their selected topics related to perioperative management for pediatric open cranial vault surgery for craniosynostosis. These groups will also identify where future research is needed.
CONCLUSIONS
Experts in pediatric craniofacial surgery and anesthesiology are developing recommendations on behalf of the Pediatric Craniofacial Collaborative Group for perioperative management of patients undergoing open cranial vault surgery for craniosynostosis and identifying future research priorities.
Topics: Anemia; Blood Transfusion; Child; Craniosynostoses; Critical Care; Humans; Infant; Skull
PubMed: 33174262
DOI: 10.1111/pan.14066