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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 -
Journal of Human Genetics Jul 2024Spondylocostal dysostosis (SCDO) encompasses a group of skeletal disorders characterized by multiple segmentation defects in the vertebrae and ribs. SCDO has a complex...
Spondylocostal dysostosis (SCDO) encompasses a group of skeletal disorders characterized by multiple segmentation defects in the vertebrae and ribs. SCDO has a complex genetic etiology. This study aimed to analyze and identify pathogenic variants in a fetus with SCDO. Copy number variant sequencing and whole exome sequencing were performed on a Chinese fetus with SCDO, followed by bioinformatics analyses, in vitro functional assays and a systematic review on the reported SCDO cases with LFNG pathogenic variants. Ultrasound examinations in utero exhibited that the fetus had vertebral malformation, scoliosis and tethered cord, but rib malformation was not evident. We found a novel homozygous variant (c.1078 C > T, p.R360C) within the last exon of LFNG. The variant was predicted to cause loss of function of LFNG by in silico prediction tools, which was confirmed by an in vitro assay of LFNG enzyme activity. The systematic review listed a total of 20 variants of LFNG in SCDO. The mutational spectrum spans across all exons of LFNG except the last one. This study reported the first Chinese case of LFNG-related SCDO, revealing the prenatal phenotypes and expanding the mutational spectrum of the disorder.
Topics: Humans; Female; Exome Sequencing; Fetus; Pregnancy; Abnormalities, Multiple; Mutation; Meningomyelocele; DNA Copy Number Variations; Asian People; East Asian People; Hernia, Diaphragmatic
PubMed: 38565611
DOI: 10.1038/s10038-024-01248-3 -
The British Journal of Oral &... Jan 2024This review provides a comprehensive overview of the literature on velopharyngeal insufficiency, associated anomalies, and speech/language impairment in patients with... (Review)
Review
This review provides a comprehensive overview of the literature on velopharyngeal insufficiency, associated anomalies, and speech/language impairment in patients with craniofacial microsomia (CFM). A systematic search of the literature was conducted to identify records on VPI and speech impairment in CFM from their inception until September 2022 within the databases Embase, PubMed, MEDLINE, Ovid, CINAHL EBSCO, Web of Science, Cochrane, and Google Scholar. Seventeen articles were included, analysing 1,253 patients. Velopharyngeal insufficiency results in hypernasality can lead to speech impairment. The reported prevalence of both velopharyngeal insufficiency and hypernasality ranged between 12.5% and 55%, while the reported prevalence of speech impairment in patients with CFM varied between 35.4% and 74%. Language problems were reported in 37% to 50% of patients. Speech therapy was documented in 45.5% to 59.6% of patients, while surgical treatment for velopharyngeal insufficiency consisted of pharyngeal flap surgery or pharyngoplasty and was reported in 31.6% to 100%. Cleft lip and/or palate was reported in 10% to 100% of patients with CFM; these patients were found to have worse speech results than those without cleft lip and/or palate. No consensus was found on patient characteristics associated with an increased risk of velopharyngeal insufficiency and speech/language impairment. Although velopharyngeal insufficiency is a less commonly reported characteristic of CFM than other malformations, it can cause speech impairment, which may contribute to delayed language development in patients with CFM. Therefore, timely recognition and treatment of speech impairment is essential.
Topics: Humans; Cleft Lip; Cleft Palate; Goldenhar Syndrome; Language Development Disorders; Retrospective Studies; Speech; Speech Disorders; Treatment Outcome; Velopharyngeal Insufficiency
PubMed: 38057178
DOI: 10.1016/j.bjoms.2023.09.008 -
World Neurosurgery Mar 2024The cautionary stance normally taken towards tranexamic acid (TXA) is rooted in concerns regarding its complication profile, namely its purported risk for venous... (Meta-Analysis)
Meta-Analysis Review
Tranexamic Acid Demonstrates Efficacy without Increased Risk for Venous Thromboembolic Events in Cranial Neurosurgery: Systematic Review of the Evidence and Current Applications in Nontraumatic Pathologies.
BACKGROUND
The cautionary stance normally taken towards tranexamic acid (TXA) is rooted in concerns regarding its complication profile, namely its purported risk for venous thromboembolic events (VTEs). In the present review, we intend to bring increased attention to TXA as a remarkably valuable tool that does not appear to increase the risk for VTE when used as indicated in select patients.
METHODS
We queried three databases to identify reporting use of TXA during nontraumatic cranial neurosurgery procedures (excluded traumatic brain injury). Data gathered included VTE complications, deep venous thrombosis, use of allogeneic blood transfusions, estimated blood loss, and operative duration.
RESULTS
Twenty-eight studies were deemed eligible for inclusion in the present meta-analysis, including nine studies on surgical resection of intracranial neoplasms, ten studies on aneurysmal subarachnoid hemorrhage, and nine studies on craniosynostosis. In brain tumor surgery, TXA appears to successfully reduce blood loss without predisposing patients to VTE or seizure (P < 0.01). However, it does not appear to reduce rates of vasospasm in aneurysmal subarachnoid hemorrhage (P = 0.27), and its administration is not associated with clinically meaningful differences in long term neurological outcomes. For pediatric patients undergoing craniosynostosis procedures, TXA similarly reduces blood loss (P < 0.01). Nonetheless, low dosing protocols should be used because they appear effective and the effects of high dose TXA in children have not been studied.
CONCLUSIONS
TXA is an effective hemostatic agent that can be administered to reduce blood loss and transfusion requirements for a wide range of neurosurgical applications in a broad spectrum of patient populations.
Topics: Humans; Child; Tranexamic Acid; Venous Thromboembolism; Antifibrinolytic Agents; Neurosurgery; Subarachnoid Hemorrhage; Blood Loss, Surgical; Venous Thrombosis; Craniosynostoses
PubMed: 38052364
DOI: 10.1016/j.wneu.2023.11.148 -
Orthodontics & Craniofacial Research Jun 2024The study aimed to summarize current knowledge regarding the use of orthopaedic functional appliances (OFA) in managing unilateral craniofacial microsomia (UCM). The... (Review)
Review
The study aimed to summarize current knowledge regarding the use of orthopaedic functional appliances (OFA) in managing unilateral craniofacial microsomia (UCM). The eligibility criteria for the review were (1) assessing use of OFA as a stand-alone treatment and (2) using OFA in combination during or after MDO. The PICO (population, intervention, comparison and outcome) format formulated clinical questions with defined inclusion and exclusion criteria. No limitations concerning language and publication year were applied. Information sources: A literature search of Medline, Scopus, Embase, Cochrane Central Register of Controlled Trials, Web of Science databases without restrictions up to 30 September 2022. The risk of bias was assessed. According to Cochrane and PRISMA guidelines, two independent authors conducted data extraction. The level of evidence for included articles was evaluated based on the Oxford evidence-based medicine database. Due to the heterogeneity of studies and insufficient data for statistical pooling, meta-analysis was not feasible. Therefore, the results were synthesized narratively. A total of 437 articles were retrieved. Of these, nine met inclusion criteria: five assessing OFA and four assessing OFA during or after MDO. There is limited evidence to suggest that stand-alone and combination treatment with OFA is beneficial for treating mild-to-moderate UCM-related dentofacial deformities in short term. No studies assessed the burden of care. In the management of UCM, there is insufficient evidence supporting the efficacy of OFA as a stand-alone treatment or when combined with MDO. Additionally, there is a lack of evidence regarding treatment protocols and the effect on the condyles and the TMJ. The study was registered at Prospero database number CRD42020204969.
Topics: Humans; Goldenhar Syndrome; Orthodontic Appliances, Functional
PubMed: 37987216
DOI: 10.1111/ocr.12729 -
American Journal of Speech-language... Jan 2024Craniofacial microsomia (CFM) is a complex congenital condition primarily affecting the ear, mandible, facial nerve and muscles, and tongue. Individuals with CFM are at... (Review)
Review
INTRODUCTION
Craniofacial microsomia (CFM) is a complex congenital condition primarily affecting the ear, mandible, facial nerve and muscles, and tongue. Individuals with CFM are at increased risk of hearing loss, obstructive sleep apnea, and feeding/swallowing difficulties. The purpose of this scoping review was to summarize evidence pertaining to speech production in CFM.
METHOD
All articles reporting any characteristic of speech production in CFM were included and screened by two independent reviewers by title, abstract, and full text. Data charting captured details related to study population and design, CFM diagnostic criteria, speech outcome measurement, and key findings. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews checklist guided reporting of results. Our protocol was registered on the Open Science Framework (https://osf.io/npr94/) and published elsewhere.
RESULTS
Forty-five articles were included in the detailed review. Most articles originated from the United States, were published in the past decade, and utilized case report/series study design. A speech-language pathologist authored 29%. The prevalence of velopharyngeal insufficiency ranged from 19% to 55% among studies. Oral distortion of alveolar and palatal fricatives and affricates primarily characterized articulation errors. Studies identified increased disordered speech and lower intelligibility in adolescents with CFM compared to unaffected peers. Evidence pertaining to phonatory and respiratory speech findings is limited.
CONCLUSIONS
Evidence supports that individuals with CFM are at increased risk of both velopharyngeal and articulatory speech differences. Additional information is needed to develop speech screening guidelines for children with CFM. Heterogeneity in study design and outcome measurement precludes comparisons across studies.
SUPPLEMENTAL MATERIAL
https://doi.org/10.23641/asha.24424555.
Topics: Child; Adolescent; Humans; United States; Goldenhar Syndrome; Speech; Speech Disorders; Communication Disorders; Phenotype
PubMed: 37931079
DOI: 10.1044/2023_AJSLP-23-00152 -
Developmental Biology Jan 2024Congenital craniofacial abnormalities are congenital anomalies of variable expressivity and severity with a recognizable set of abnormalities, which are derived from... (Review)
Review
Congenital craniofacial abnormalities are congenital anomalies of variable expressivity and severity with a recognizable set of abnormalities, which are derived from five identifiable primordial structures. They can occur unilaterally or bilaterally and include various malformations such as cleft lip with/without palate, craniosynostosis, and craniofacial microsomia. To date, the molecular etiology of craniofacial abnormalities is largely unknown. Noncoding RNAs (ncRNAs), including microRNAs, long ncRNAs, circular RNAs and PIWI-interacting RNAs, function as major regulators of cellular epigenetic hallmarks via regulation of various molecular and cellular processes. Recently, aberrant expression of ncRNAs has been implicated in many diseases, including craniofacial abnormalities. Consequently, this review focuses on the role and mechanism of ncRNAs in regulating craniofacial development in the hope of providing clues to identify potential therapeutic targets.
Topics: Humans; RNA, Untranslated; MicroRNAs; RNA, Long Noncoding; Craniofacial Abnormalities; Craniosynostoses
PubMed: 37923186
DOI: 10.1016/j.ydbio.2023.10.007 -
The Journal of Craniofacial SurgeryThe purpose of this study is to describe the treatment strategies and outcomes of nonsyndromic single-suture sagittal craniosynostosis based on the patient's age at...
The purpose of this study is to describe the treatment strategies and outcomes of nonsyndromic single-suture sagittal craniosynostosis based on the patient's age at intervention. Studies from MEDLINE, Scopus, and Cochrane Central Register of Controlled Trials were systematically searched for patients with nonsyndromic single-suture sagittal craniosynostosis. Inclusion criteria encompassed studies with follow-up of at least 12 months, minimum of 25 patients per cohort, and first-time surgical intervention. The risk of bias in nonrandomized studies of intervention tool [Risk Of Bias In Non-randomized Studies-of Interventions (ROBINS-I)] was applied. A total of 49 manuscripts with 3316 patients met criteria. Articles were categorized based on age at intervention; 0 to 6, older than 6 to 12, and older than 12 months. Fifteen of the manuscripts described interventions in more than 1 age group. From the 49 articles, 39 (n=2141) included patients 0 to 6 months old, 15 (n=669) discussed patients older than 6 to 12 months old, and 9 (n=506) evaluated patients older than 12 months old. Follow-up ranged from 12 to 144 months. Over 8 types of open surgical techniques were identified and 5 different minimally invasive procedures were described. Minimally invasive procedures were exclusively seen in the youngest patient cohort, while open cranial vault reconstructions were often seen in the 2 older cohorts. Endoscopic surgery and open conservative procedures are indicated for younger patients, while complex open cranial vault reconstructions are common in older patients. However, there is no consensus on one approach over the other. Even with the analysis of this review, we cannot factor a strong conclusion on a specific technique.
Topics: Humans; Aged; Infant, Newborn; Infant; Craniosynostoses; Skull; Neurosurgical Procedures; Endoscopy; Treatment Outcome
PubMed: 37772869
DOI: 10.1097/SCS.0000000000009752 -
Annals of Plastic Surgery Oct 2023Although craniosynostoses involving the major sutures have been well described, the frequency of isolated minor suture craniosynostoses is much lower. Squamosal...
BACKGROUND
Although craniosynostoses involving the major sutures have been well described, the frequency of isolated minor suture craniosynostoses is much lower. Squamosal craniosynostosis (SQS) is a rare form of cranial synostosis, and the paucity of literature has made the creation of a standardized treatment plan difficult. We present a systematic review of the literature on isolated SQS to identify disease characteristics that lead to a need for operative intervention and to delineate patterns in surgical management.
METHODS
A systematic literature review was performed using the electronic databases of PubMed, Scopus, and MEDLINE and the key words "squamosal AND craniosynostosis," "squamous AND craniosynostosis," "squamosal craniosynostosis, "squamosal suture craniosynostosis," and "isolated squamosal craniosynostosis." Only human studies that described presentation and management of SQS were included. A blinded, 2-reviewer analysis of the articles was performed. Data collected included patient and disease characteristics, imaging workup, and treatment specifics, which were analyzed by descriptive statistics.
RESULTS
A total of 19 studies examining 119 patients with SQS were reviewed, with 97 (82%) multisutural cases and 22 isolated cases (18%). Of the isolated cases, 6 (27%) required surgical craniosynostosis repair, of which 1 (17%) had unilateral sutural involvement and 5 (83%) had bilateral involvement. Of the patients with isolated SQS, 7 (32%) had a congenital syndrome and comprised 33% of patients who required surgical intervention. The nonsyndromic patients with isolated SQS who required surgery presented with a wide array of phenotypic findings; 3 patients underwent some form of cranial vault remodeling, whereas 1 patient underwent ventriculoperitoneal shunt only. Of the 4 nonsyndromic patients with isolated SQS who underwent surgical repair, half required operative intervention because of elevated intracranial pressure and the other half because of dysmorphic head shape.
CONCLUSION
The findings of this updated systematic review suggest a trend toward surgical management in bilateral SQS versus unilateral SQS, and that patients with isolated SQS, previously considered to be a nonsurgical finding, should be carefully monitored, as there remains risk of increased intracranial pressure. Pooled systematic review data suggest isolated SQS has a 27% operative intervention rate, with the presence of coexisting syndromic diagnoses increasing that risk.
Topics: Humans; Infant; Tomography, X-Ray Computed; Craniosynostoses; Skull; Cranial Sutures; Plastic Surgery Procedures; Retrospective Studies
PubMed: 37553899
DOI: 10.1097/SAP.0000000000003642 -
Orthodontics & Craniofacial Research Feb 2024Hypoplastic asymmetry due to hemifacial microsomia (HFM) often represents the most difficult reconstruction in the craniomaxillofacial clinic. Although autogenous grafts... (Review)
Review
Hypoplastic asymmetry due to hemifacial microsomia (HFM) often represents the most difficult reconstruction in the craniomaxillofacial clinic. Although autogenous grafts are generally used for temporomandibular joint reconstruction (TMJR), the use of TMJR prostheses is not well established. The aim of this review was to identify, collect and analyse the use of extended TMJR (eTMJR) prostheses in patients with HFM, describing clinical features, surgical procedures and postoperative complications. Online searches of all major databases were performed according to PRISMA guidelines. All studies with HFM patients treated with the eTMJR prostheses were included. Descriptive statistics were used for data analysis. A total of 19 studies, including 08 case studies, 06 case series and 05 retrospective cohort studies, met the inclusion criteria, where a total of 42 HFM patients were reported from 18 countries, mostly from the United States (05; 26%). Fifteen of the 42 cases (~36%) were male. The mean ± SD (range) age of patients in all studies was 19.79 ± 5.81 (9-36) years. The mean ± SD (range) of patient follow-up was 41.30 ± 35.50 (6-136) months. A total of 5 (10.6%) patients were implanted with bilateral eTMJR prostheses. The Pruzansky classification was used in 18 (~89.5%) studies, OMENS classification in 01 (~5%) study, whereas no classification was reported in one study. Only 01 (7.1%) study had documented the eTMJR classification for the prosthesis used. In growing patients with or without a history of failed autogenous tissues, TMJR prostheses may provide a viable alternative. Randomized studies with large cohorts are warranted to validate these preliminary results.
Topics: Adolescent; Adult; Female; Humans; Male; Young Adult; Facial Asymmetry; Goldenhar Syndrome; Joint Prosthesis; Retrospective Studies; Temporomandibular Joint; Temporomandibular Joint Disorders; Child
PubMed: 37533308
DOI: 10.1111/ocr.12695