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Plastic and Reconstructive Surgery Jun 2023The aim of this study was to compare the indications, techniques, and outcomes of vascularized and nonvascularized toe-to-hand transfer surgery in patients with...
BACKGROUND
The aim of this study was to compare the indications, techniques, and outcomes of vascularized and nonvascularized toe-to-hand transfer surgery in patients with congenital hand differences.
METHODS
A systematic review was conducted according to Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines. Studies containing data on indications, surgical technique, and outcomes for patients with congenital absence or deficiency of digits or thumb treated with toe-to-hand transfer were included. Failure was defined as resorption of the transfer or necrosis necessitating removal.
RESULTS
Forty studies published between 1978 and 2020 were included. A total of 319 patients (59.7%) had vascularized transfers, 214 (40.1%) had nonvascularized transfers, and one had both (0.2%). Symbrachydactyly was the most common indication in both groups (46.3% vascularized and 45.3% nonvascularized). The most commonly transplanted toe was the second toe in the vascularized group (72.6 %) and fourth toe in the nonvascularized group (32.2%). Vascularized toe transfers were most commonly used to reconstruct the thumb (53.3%), as were nonvascularized transfers (30%). Vascular complications occurred after 6.8% of vascularized transfers, although 94.7% were ultimately successful after reoperation. Resorption accounted for most complications after nonvascularized transfers. More secondary procedures were required after nonvascularized transfers. In the vascularized group, there was a higher success rate of 98.6% (95% CI, 97.4% to 99.7%), compared with 86.8% (95% CI, 83.6% to 90%) in the nonvascularized group ( P < 0.001).
CONCLUSIONS THE AUTHORS
study found a higher success rate in vascularized transfers. The ideal technique must be assessed on an individual patient basis, accounting for baseline hand structure, in addition to the ultimate aesthetic and functional goals.
Topics: Humans; Hand; Upper Extremity; Thumb; Syndactyly; Toes; Amputation, Traumatic
PubMed: 36728793
DOI: 10.1097/PRS.0000000000010116 -
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 -
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 -
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 -
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 -
The Journal of Craniofacial Surgery Jun 2023Although neurocognitive impairment has been considered as the main argument for the surgical treatment of craniosynostosis (CS), recent studies reported subtle deficits...
Although neurocognitive impairment has been considered as the main argument for the surgical treatment of craniosynostosis (CS), recent studies reported subtle deficits in neurological function even in operated patients. However, the cause of these deficits remains poorly understood. This systematic review sought to examine the impact of CS on the brain microstructure, mainly on functional connectivity, and comprehensively summarize the clinical and experimental research available on this topic. A systematic review was performed considering the publications of the last 20 years in PubMed and Web of Science, including relevant human and animal studies of the types of brain-microstructure disturbances in CS. Among the 560 papers identified, 11 were selected for analysis. Seven of those were conducted in humans and 4 in animal models. Resting-state functional magnetic resonance imaging, task-based magnetic resonance imaging, and diffusion tensor imaging were the main instruments used to investigate brain connectivity in humans. The main findings were increased connectivity of the posterior segment of cingulum gyri, reduced interconnectivity of the frontal lobes, and reduced diffusivity on diffusion tensor imaging, which were associated with hyperactivity behaviors and poorer performance on neurocognitive tests. Conversely, despite the lack of evidence of brain dysfunction in animal studies, they reported a tendency toward the development of hyperactive behaviors and impairment of neurocognitive function. Skull restriction caused by CS apparently chronically increases the intracranial pressure and produces white matter injuries. The current evidence supports the contention that an early surgical approach could minimize brain-connectivity impairment in this context.
Topics: Humans; Diffusion Tensor Imaging; Brain; Magnetic Resonance Imaging; Diffusion Magnetic Resonance Imaging; Craniosynostoses
PubMed: 36184763
DOI: 10.1097/SCS.0000000000009060 -
The Cleft Palate-craniofacial Journal :... Mar 2024Lambdoid craniosynostosis affects approximately 1 in 33 000 live births per year, and surgical correction is often sought in order to achieve normocephaly and allow... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
Lambdoid craniosynostosis affects approximately 1 in 33 000 live births per year, and surgical correction is often sought in order to achieve normocephaly and allow for adequate brain growth. However, the effects of lambdoid synostosis and its treatment on cognitive development are unknown.
DESIGN
Systematic review and meta-analysis.
PATIENTS, PARTICIPANTS
A systematic review of Ovid Medline, Embase, Web of Science, Scopus, Cochrane Central Register of Controlled Trials, and Clinicaltrials.gov was conducted in January 2022. Included studies assessed cognitive development of patients with nonsyndromic unilateral lambdoid craniosynostosis.
MAIN OUTCOME MEASURES
Results of developmental tests were compared to normative data or controls to generate Hedges' g for meta-analysis.
RESULTS
Nine studies met the inclusion criteria. Meta-analysis of 3 studies describing general cognition showed that cases scored significantly lower than their peers, but within 1 standard deviation ( = 0.37, 95% CI [-0.64, -0.10], = .01). Meta-analysis of verbal and psychomotor development showed no significant differences in children with lambdoid synostosis. Studies were of fair quality and had moderate-to-high heterogeneity.
CONCLUSIONS
Patients with lambdoid craniosynostosis may score slightly below average on tests of general cognition in comparison to normal controls, but results in other domains are variable. Analyses were limited by small sample sizes. Multidisciplinary care and involvement of a child psychologist may be helpful in identifying areas of concern and providing adequate scholastic support. Further research recruiting larger cohorts will be necessary to confirm these findings and extend them to other developmental domains such as attention and executive function.
Topics: Child; Humans; Craniosynostoses; Cognition; Head; Brain
PubMed: 36177519
DOI: 10.1177/10556656221129978 -
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 -
Molecular Genetics and Genomics : MGG Sep 2022Disorders that result from de-arrangement of growth, development and/or differentiation of the appendages (limbs and digit) are collectively called as inherited...
Disorders that result from de-arrangement of growth, development and/or differentiation of the appendages (limbs and digit) are collectively called as inherited abnormalities of human appendicular skeleton. The bones of appendicular skeleton have central role in locomotion and movement. The different types of appendicular skeletal abnormalities are well described in the report of "Nosology and Classification of Genetic skeletal disorders: 2019 Revision". In the current article, we intend to present the embryology, developmental pathways, disorders and the molecular genetics of the appendicular skeletal malformations. We mainly focused on the polydactyly, syndactyly, brachydactyly, split-hand-foot malformation and clubfoot disorders. To our knowledge, only nine genes of polydactyly, five genes of split-hand-foot malformation, nine genes for syndactyly, eight genes for brachydactyly and only single gene for clubfoot have been identified to be involved in disease pathophysiology. The current molecular genetic data will help life sciences researchers working on the rare skeletal disorders. Moreover, the aim of present systematic review is to gather the published knowledge on molecular genetics of appendicular skeleton, which would help in genetic counseling and molecular diagnosis.
Topics: Brachydactyly; Clubfoot; Humans; Limb Deformities, Congenital; Molecular Biology; Polydactyly; Syndactyly
PubMed: 35907958
DOI: 10.1007/s00438-022-01930-1 -
The Cleft Palate-craniofacial Journal :... Dec 2023Surgical correction of craniosynostosis can involve significant blood loss. Rates of allogenic blood transfusion have been reported to approach 100%. Multiple...
Surgical correction of craniosynostosis can involve significant blood loss. Rates of allogenic blood transfusion have been reported to approach 100%. Multiple interventions have been described to reduce blood loss and transfusion requirements. The aim of this study was to analyze various approaches over the last 4 decades to optimize blood loss and management during craniosynostosis surgery. PRISMA guidelines for systematic reviews were followed. PubMed and Cochrane database searches identified studies analyzing approaches to minimizing blood loss or transfusion rate in craniosynostosis surgery. Primary outcomes included rate or amount of allogenic or autologous blood transfusion, estimated blood loss (EBL), postoperative hemoglobin (Hg), or hematocrit (Hct) levels. Secondary outcomes were examined when reported. Fifty-two studies met inclusion criteria. There was marked heterogeneity regarding design, inclusion criteria, surgical intervention, and endpoints. The majority of the studies were nonrandomized and noncomparative. Four studies analyzed erythropoietin (EPO), 6 analyzed various cell-saver (CS) technologies, 18 analyzed antifibrinolytics (tranexamic acid [TXA], aminocaproic acid [ACA], and aprotinin [APO]), 8 analyzed various alternatives, and 16 analyzed multimodal pathways & protocols. Some studies analyzed multiple approaches. Although the majority of studies reviewed represent level III/IV evidence, several high-quality level I studies were identified and included. Level I evidence supported an improvement in blood outcomes by utilizing EPO, CS, and TXA, individually or in concert with one another. Thus, this review suggests that a multi-prong approach may be the most effective means to optimize blood loss and transfusion outcomes in craniosynostosis surgery.
Topics: Humans; Blood Loss, Surgical; Antifibrinolytic Agents; Tranexamic Acid; Blood Transfusion; Craniosynostoses
PubMed: 35903885
DOI: 10.1177/10556656221116007