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The Journal of Craniofacial SurgeryBlood loss is a potential cause of morbidity and mortality in craniosynostosis surgery. Recent reports have suggested that the use of tranexamic acid (TXA), an... (Meta-Analysis)
Meta-Analysis
Blood loss is a potential cause of morbidity and mortality in craniosynostosis surgery. Recent reports have suggested that the use of tranexamic acid (TXA), an antifibrinolytic agent, mitigates this blood loss. A comprehensive systematic review and subsequent meta-analysis was undertaken, with the view to clarify the effectiveness of TXA in reducing blood loss and transfusion requirements in craniosynostosis surgery. Medline and PubMed databases were searched using the preferred reporting items for systematic reviews and meta-analyses technique, and 7003 articles were assessed based on predefined selection criteria. Seven trials were identified, of which 2 were randomized controlled trials and the remainder retrospective cohort studies. All trials were assessed using the Jadad and strengthening the reporting of observational studies in epidemiology scores. The meta-analysis found a clear statistical reduction in blood loss in those patients who received TXA perioperatively, with a combined blood loss reduction of 7.06 ml/kg (95% confidence interval -8.97 to -5.15, P < 0.00001). The blood loss reduction was found to extrapolate to a reduction in perioperative transfusion requirements by 8.47 ml/kg in this cohort (95% confidence interval -10.9 to -6.04, P < 00001). There were no TXA-related adverse outcomes recorded in the 258 patients who received TXA across all trials. The trials included in this meta-analysis were limited by underpowered population sizes and significant heterogeneity in blood loss recording techniques. Further, there was significant heterogeneity amongst operations performed. The current literature appears to support the use of TXA in craniosynostosis surgery, but further high quality randomized controlled trials are indicated, ideally including a subgroup analysis between the operations performed.
Topics: Antifibrinolytic Agents; Blood Loss, Surgical; Craniosynostoses; Humans; Retrospective Studies; Tranexamic Acid
PubMed: 34593743
DOI: 10.1097/SCS.0000000000008123 -
Orphanet Journal of Rare Diseases Aug 2019Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies involve the palate in 80% of patients, and the heart in 50-60% of them. The cause of the phenotypic variability is unknown. Patients usually harbor one of three common deletions sizes: 3, 2 and 1.5 Mb, between low copy repeats (LCR) designated A-D, A-C and A-B, respectively. This study aimed to analyze the association between these 3 deletion sizes and the presence of congenital cardiac and/or palatal malformations in individuals with this condition. A systematic review and meta-analysis were conducted, merging relevant published studies with data from Chilean patients to increase statistical power.
RESULTS
Eight articles out of 432 were included; the data from these studies was merged with our own, achieving a total of 1514 and 487 patients to evaluate cardiac and palate malformations, respectively. None of the compared deleted chromosomal segments were statistically associated with cardiac defects (OR: 0.654 [0.408-1.046]; OR : 1.291 [0.860-1.939]) or palate anomalies (OR: 1.731 [0.708-4.234]; OR : 0.628 [0.286-1.382]).
CONCLUSIONS
The lack of association between deletion size and CHD or PA found in this meta-analysis suggests that deletion size does not explain the incomplete penetrance of these 2 major manifestations, and that the critical region for the development of heart and palatal abnormalities is within LCR A-B, the smallest region of overlap among the three deletion sizes.
Topics: Arachnodactyly; Chromosome Deletion; Craniosynostoses; Humans; Marfan Syndrome; Phenotype
PubMed: 31399107
DOI: 10.1186/s13023-019-1170-x -
Journal of Neurosurgery. Pediatrics Jan 2023The current literature on unilateral coronal craniosynostosis is replete with repair techniques and surgical outcomes; however, information regarding neurodevelopment... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
The current literature on unilateral coronal craniosynostosis is replete with repair techniques and surgical outcomes; however, information regarding neurodevelopment remains unclear. Therefore, the aim of this systematic review and meta-analysis was to comprehensively assess the neurodevelopmental outcomes of patients with unicoronal craniosynostosis compared with their healthy peers or normative data.
METHODS
A systematic review of the Ovid MEDLINE, Embase, Web of Science, Scopus, Cochrane Library, and ClinicalTrials.gov databases from database inception to January 19, 2022, was performed. Included studies assessed neurodevelopment of patients with unicoronal craniosynostosis. Two independent reviewers selected studies and extracted data based on a priori inclusion and exclusion criteria. Results of developmental tests were compared with normative data or controls to generate Hedges' g statistics for meta-analysis. The quality of included studies was evaluated using the National Institutes of Health Assessment Tool.
RESULTS
A total of 19 studies were included and analyzed, with an overall fair reporting quality. A meta-analysis of 325 postoperative patients demonstrated that scores of general neurodevelopment were below average but within one standard deviation of the norm (Hedges' g = -0.68 [95% CI -0.90 to -0.45], p < 0.001). Similarly, postoperative patients exhibited lower scores in verbal, psychomotor, and mathematic outcome assessments.
CONCLUSIONS
This systematic review and meta-analysis found that patients with unicoronal craniosynostosis had poorer neurodevelopment, although scores generally remained within the normal range. These data may guide implementation of regular neurocognitive assessments and early learning support of patients with unicoronal craniosynostosis.
Topics: United States; Humans; Craniosynostoses; Outcome Assessment, Health Care; Databases, Factual
PubMed: 36272117
DOI: 10.3171/2022.9.PEDS22283 -
Global Spine Journal Sep 2019Systematic review (Level 4). (Review)
Review
STUDY DESIGN
Systematic review (Level 4).
OBJECTIVE
To summarize the demographics, clinical presentations, and conditions associated with butterfly vertebrae.
METHODS
A systematic search was performed of multiple databases. A total of 279 articles were identified for screening. Case series or case reports of butterfly vertebrae with adequate clinical detail were complied.
RESULTS
Eighty-two total articles (109 patients) were selected for final inclusion. Sixty-one percent of patients presented with a single butterfly vertebra, while 39% were multiple. The most common location for butterfly vertebrae was T1. Fifty-six percent of cases were associated with a syndrome, the most common being spondylocostal dysostosis. The presence of multiple butterfly vertebra was strongly associated with a syndrome or additional anomalies ( < .001). Overall, the most common presenting complaint was low back pain. Seventy percent of patients had associated spinal disease. Other organ systems affected included musculoskeletal (43%), craniofacial (30%), neurologic (27%), cardiovascular (24%), genitourinary (23%), gastrointestinal (22%), laboratory abnormality (16%), and endocrine (9%).
CONCLUSIONS
This study is the largest collection of butterfly vertebrae cases to date. Butterfly vertebrae are associated with spinal deformity and multiple butterfly vertebrae may indicate a syndromic illness. Low back pain or disc herniation may occur with lumbar butterfly vertebrae however the etiology of this phenomena has not been rigorously explained. Many diseases and syndromes are associated with butterfly vertebrae.
PubMed: 31448202
DOI: 10.1177/2192568218801016 -
Current Pediatric Reviews 2023Silver-Russell syndrome (SRS) is a developmental disorder involving extreme growth failure, characteristic facial features and underlying genetic heterogeneity. As the...
BACKGROUND
Silver-Russell syndrome (SRS) is a developmental disorder involving extreme growth failure, characteristic facial features and underlying genetic heterogeneity. As the clinical heterogeneity of SRS makes diagnosis a challenging task, the worldwide incidence of SRS could vary from 1:30,000 to 1:100,000. Although various chromosomal, genetic, and epigenetic mutations have been linked with SRS, the cause had only been identified in half of the cases.
MATERIAL AND METHODS
To have a better understanding of the SRS clinical presentation and mutation/ epimutation responsible for SRS, a systematic review of the literature was carried out using appropriate keywords in various scientific databases (PROSPERO protocol registration CRD42021273211). Clinical features of SRS have been compiled and presented corresponding to the specific genetic subtype. An attempt has been made to understand the recurrence risk and the role of model organisms in understanding the molecular mechanisms of SRS pathology, treatment, and management strategies of the affected patients through the analysis of selected literature.
RESULTS
156 articles were selected to understand the clinical and molecular heterogeneity of SRS. Information about detailed clinical features was available for 228 patients only, and it was observed that body asymmetry and relative macrocephaly were most prevalent in cases with methylation defects of the 11p15 region. In about 38% of cases, methylation defects in ICRs or genomic mutations at the 11p15 region have been implicated. Maternal uniparental disomy of chromosome 7 (mUPD7) accounts for about 7% of SRS cases, and rarely, uniparental disomy of other autosomes (11, 14, 16, and 20 chromosomes) has been documented. Mutation in half of the cases is yet to be identified. Studies involving mice as experimental animals have been helpful in understanding the underlying molecular mechanism. As the clinical presentation of the syndrome varies a lot, treatment needs to be individualized with multidisciplinary effort.
CONCLUSION
SRS is a clinically and genetically heterogeneous disorder, with most of the cases being implicated with a mutation in the 11p15 region and maternal disomy of chromosome 7. Recurrence risk varies according to the molecular subtype. Studies with mice as a model organism have been useful in understanding the underlying molecular mechanism leading to the characteristic clinical presentation of the syndrome. Management strategies often need to be individualized due to varied clinical presentations.
Topics: Humans; Animals; Mice; Mice, Inbred ICR; Silver-Russell Syndrome; Uniparental Disomy; Genomic Imprinting
PubMed: 35293298
DOI: 10.2174/1573396318666220315142542 -
Clinical Neurology and Neurosurgery Jul 2024Craniosynostosis, a developmental craniofacial anomaly, can impair brain development and cause abnormal skull shape due to premature closure of one or more cranial... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Craniosynostosis, a developmental craniofacial anomaly, can impair brain development and cause abnormal skull shape due to premature closure of one or more cranial sutures. Traditional surgical treatments have evolved from open operations to minimally invasive endoscopic techniques. This systematic review and meta-analysis aim to evaluate the effectiveness and safety of the endoscopic approach in craniosynostosis correction.
METHODS
Adhering to Cochrane Group standards and the PRISMA framework, this review utilized databases like PubMed, Embase, and Web of Science, focusing on clinical and surgical outcomes of endoscopic craniosynostosis operations up to December 2023. Inclusion criteria emphasized studies with at least five patients undergoing endoscopic procedures, while exclusion criteria involved non-English papers, incomplete texts, and overlapping data. Statistical analysis used R software with various packages, and methodological bias was assessed using the ROBINS-I framework.
RESULTS
The review included 30 studies (4 prospective, 26 retrospective) with 2561 patients. The median age at operation was 3.20 months. Findings showed a mean operative time of 68.06 min, median hospital stay of 1.28 days, and mean blood loss of 29.89 ml. Blood transfusion was required in 9.97% of cases. Helmet therapy post-operation was common, with a median duration of 9 months. The rate of postoperative complications was 1.86%, and the reoperation rate was 3.07%. No procedure-related mortality was observed. The study noted substantial variations in the handling of craniosynostosis and a lack of consensus on the optimal timing and surgical approach.
CONCLUSION
Endoscopic techniques for craniosynostosis repair demonstrate safety and effectiveness, characterized by low complication risks and favorable surgical outcomes. However, due to the limitations of observational studies and inherent heterogeneity, further comprehensive and controlled trials are needed to validate these findings and understand the long-term outcomes of the endoscopic approach.
Topics: Craniosynostoses; Humans; Neuroendoscopy; Treatment Outcome; Postoperative Complications; Endoscopy; Infant; Operative Time; Length of Stay
PubMed: 38749357
DOI: 10.1016/j.clineuro.2024.108296 -
The Journal of Clinical Pediatric... Sep 2022To systematically review literature on therapeutic options for treating hemifacial microsomia (HFM), in young patients with growth potential, classifying and comparing...
OBJECTIVE
To systematically review literature on therapeutic options for treating hemifacial microsomia (HFM), in young patients with growth potential, classifying and comparing the different dentofacial treatment methods.
STUDY DESIGN
An independent review of databases (Scopus, Embase, Ovid, Cochrane Library and PubMed) following the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA), conducted by four evaluators. The protocol of this study was registered in International prospective register of systematic reviews (PROSPERO), under the number CRD42021293076.
RESULTS
Between 1970-2021, a total number of 1137 articles were published of which 27 were included in this study according to the selection criteria: one randomized multicentric trial, two case-control studies, three case series and 21 case reports.
CONCLUSIONS
The most common orthopedic treatments provide vertical stimulation of the maxillary process in the affected side. Orthodontic approaches are mainly applied for vertical correction and stabilization of the occlusal plane. Other treatment options include orthognathic surgery, osteogenic distraction, temporomandibular reconstruction and grafting. It is recommended that prospective clinical randomized controlled studies be conducted using homogeneous pediatric groups with long-term follow-up, to establish recommended evidence-based methods for treating each set of hemifacial microsomia symptoms.
Topics: Humans; Child; Goldenhar Syndrome; Facial Asymmetry; Treatment Outcome; Retrospective Studies; Prospective Studies; Mandible; Randomized Controlled Trials as Topic
PubMed: 36624910
DOI: 10.22514/jocpd.2022.003 -
Archives of Orthopaedic and Trauma... Dec 2023To analyze the outcome of surgical treatment of tarsal coalition, assess the role of the surgical technique, as well as of coalition size and type on outcomes. (Review)
Review
PURPOSE
To analyze the outcome of surgical treatment of tarsal coalition, assess the role of the surgical technique, as well as of coalition size and type on outcomes.
METHODS
The search followed the Preferred Reporting Items of Systematic Review and Meta-Analysis and was performed in four databases: MEDLINE, Central, Scopus and Web of Science. The protocol has been registered in the international prospective register of systematic reviews. Patient-reported outcomes (PROMs), complications, revisions and radiographic recurrence were collected. Risk of bias was assessed using MINORS criteria. A random-effects model for meta-analysis was applied for analysis of data heterogeneity.
RESULTS
Twenty-five studies including 760 tarsal coalitions were included and had a weighted average follow-up of 44 months. Studies scored fair to poor on the risk of bias assessment with a mean MINORS score of 67% (44-81%). In 77.8% (37.5-100%) of surgically treated tarsal coalitions, good/excellent/non-limiting or improved PROMs were reported. Calculated data heterogeneity was moderate (I = 57%). Open bar resection with material interposition had a clinical success rate of 78.8% (50-100%). Complications occurred in 4.96% of cases. Coalition size did not prove to be a determining factor in postoperative outcome. The influence of the coalition type was not investigated by any of the studies.
CONCLUSION
Data on outcomes of surgical management for tarsal coalitions is limited to retrospective case series with high risk of bias and moderate data heterogeneity. In about ¾ of cases, open resection and interposition of material results in improved PROMs. The arbitrary margin of ≥ 50% of TC coalition size in relation to the posterior facet has little importance in surgical decision-making. None of the studies reported on the influence of the coalition type on postoperative clinical success.
Topics: Humans; Retrospective Studies; Synostosis; Systematic Reviews as Topic; Tarsal Bones; Tarsal Coalition
PubMed: 37462747
DOI: 10.1007/s00402-023-04982-z -
Science Progress 2023The purpose of this meta-analysis was to strengthen the credibility of primary research results by combining open-source scientific material, namely a comparison of... (Meta-Analysis)
Meta-Analysis Review
The purpose of this meta-analysis was to strengthen the credibility of primary research results by combining open-source scientific material, namely a comparison of craniofacial features (Cfc) between Crouzon's syndrome (CS) patients and non-CS populations. All articles published up to October 7, 2021, were included in the search of PubMed, Google Scholar, Scopus, Medline, and Web of Science. The PRISMA guidelines were followed to conduct this study. PECO framework was applied in the following ways: Those who have CS are denoted by the letter P, those who have been diagnosed with CS via clinical or genetic means by the letter E, those who do not have CS by the letter C, and those who have a Cfc of CS by the letter O. Independent reviewers collected the data and ranked the publications based on their adherence to the Newcastle-Ottawa Quality Assessment Scale. A total of six case-control studies were reviewed for this meta-analysis. Due to the large variation in cephalometric measures, only those published in at least two previous studies were included. This analysis found that CS patients had a smaller skull and mandible volumes than those without CS.in terms of SNA° (MD = -2.33, = <0.001, = 83.6%) and ANB°(MD = -1.89, = <0.005, = 93.1%)), as well as ANS (MD = -1.87, = 0.001, = 96.5%)) and SN/PP (MD = -1.99, = 0.036, = 77.3%)). In comparison to the general population, people with CS tend to have shorter and flatter cranial bases, smaller orbital volumes, and cleft palates. They differ from the general population in having a shorter skull base and more V-shaped maxillary arches.
Topics: Humans; Craniofacial Dysostosis; Case-Control Studies
PubMed: 36803068
DOI: 10.1177/00368504231156297 -
Children (Basel, Switzerland) Jan 2022(1) Background: Congenital pseudoarthrosis of the clavicle is a rare condition due to the failure of the union process of the ossification nuclei of the clavicle. The... (Review)
Review
(1) Background: Congenital pseudoarthrosis of the clavicle is a rare condition due to the failure of the union process of the ossification nuclei of the clavicle. The aim of this study was to conduct a systematic review of relevant case series about the argument to find an up-to-date base of evidence for treatment choice. (2) Methods: an electronic literature research of Ovid, MEDLINE and the Cochrane Library databases was conducted, and articles were selected based on inclusion criteria. Demographic data, clinical features, treatment options, outcomes and complications were analyzed. (3) Results: 21 articles met the inclusion criteria, showing a poor overall study quality; 231 pediatric patients (240 clavicles) were analyzed. The condition was typically right sided, showed no sex predominance and no clear predisposing factors. 156 patients underwent surgical treatment, mainly open debridement and refresh of bony ends, fixation with pin or plate and bone graft, with a successful union rate of 87.4%. The nonunion rate was significantly higher in the allograft group (44.4%, = 0.019). (4) Conclusions: this paper presents an updated systematic review about treatment of congenital pseudoarthrosis of the clavicle. We confirm the generally satisfactory results of surgery, demonstrating that successful union is achievable in 87.4% of cases with a prevalence of 15.7% of major complications. Nonetheless our results should be interpreted with caution due to several limitations.
PubMed: 35204869
DOI: 10.3390/children9020147