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The Journal of Hand Surgery... Mar 2020Different techniques are used to release simple and complex congenital syndactyly in order to create an adequate web space, and to separate the fingers to allow...
Different techniques are used to release simple and complex congenital syndactyly in order to create an adequate web space, and to separate the fingers to allow independent function. This article is a systematic review of the literature, aiming to evaluate the evidence for the different techniques and outcome measures utilised. The studies consisted mainly of retrospective, non-controlled descriptive series and a few retrospective cohort studies. The level of evidence is predominantly poor. Although recommendations in favour of any particular surgical technique cannot be given based on evidence, a number of conclusions can be drawn out of the existing literature with regards to the design of the incisions for finger separation, use of pulp flaps and grafts.
Topics: Fingers; Humans; Orthopedic Procedures; Surgical Flaps; Syndactyly
PubMed: 32000609
DOI: 10.1142/S2424835520300017 -
Orthodontics & Craniofacial Research Feb 2020To provide an overview on the prevalence and types of dental anomalies in patients with craniofacial microsomia (CFM). Eligibility criteria: Inclusion criteria were...
OBJECTIVE
To provide an overview on the prevalence and types of dental anomalies in patients with craniofacial microsomia (CFM). Eligibility criteria: Inclusion criteria were CFM and dental anomalies. The following data were extracted: number of patients, methodology, mean age, sex, affected side, severity of mandibular hypoplasia, dentition stage and dental anomalies.
INFORMATION SOURCES
Cochrane, EMBASE, PubMed, MEDLINE Ovid, Web of Science, CINAHL EBSCOhost and Google Scholar, searched until the 30 August 2019. Risk of bias: The quality was examined with the OCEBM Levels of Evidence.
INCLUDED STUDIES
In total, 13 papers were included: four retrospective cohort studies, four prospective cohort studies, four case-control studies and one case series. Synthesis of results: The studies reported information on dental agenesis, delayed dental development, tooth size anomalies, tooth morphology and other dental anomalies. Description of the effect: Dental anomalies are more often diagnosed in patients with CFM than in healthy controls and occur more often on the affected than on the non-affected side. Strengths and limitations of evidence: This is the first systematic review study on dental anomalies in CFM. However, most articles were of low quality.
INTERPRETATION
Dental anomalies are common in CFM, which might be linked to the development of CFM. The pathophysiology of CFM is not entirely clear, and further research is needed.
Topics: Anodontia; Goldenhar Syndrome; Humans; Prevalence; Prospective Studies; Retrospective Studies
PubMed: 31608577
DOI: 10.1111/ocr.12351 -
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 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 -
Journal of Pediatric Orthopedics. Part B Nov 2021Congenital radioulnar synostosis (CRUS) is one of the most common congenital disorders affecting the elbow and forearm, with the forearm being fixed in a range of...
Congenital radioulnar synostosis (CRUS) is one of the most common congenital disorders affecting the elbow and forearm, with the forearm being fixed in a range of positions usually varying from neutral rotation to severe pronation. The aim of this study, apart from a systematic review of all surgical procedures described for CRUS, is to derive any correlation between various influencing factors, outcomes and complications. This review was performed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses format by an electronic literature search of Ovid, MEDLINE and the Cochrane Library databases. Grading was according to the Newcastle-Ottawa scale and the Modified Coleman Methodology Score. Demographic data, surgical procedures, outcomes and complications were analyzed. Outcome data were pooled to establish means and ranges across all studies. Spearman correlations were performed. A total of 23 articles, showing a poor overall study quality (all Level of Evidence IV), met the inclusion criteria. A total of 374 forearms with a mean age of 6.7 years (2.0-18.8) were analyzed. Derotational surgeries were more commonly performed (91%) than motion-preserving surgeries (9%). The mean deformity improved from 64.8° pronation (-75° to 110°) to a mean of 2.8° pronation (-50° to 80°). In total, 17.9% of patients presented with complications. A significant correlation was noted between age and major complications, proximal osteotomies and complications, and postoperative loss of reduction and double level osteotomies as the primary treatment modality. Most of the complications occurred above the threshold of 65-70° of correction and in children 7 years and above. Surgery is essential to improve the quality of life of children with CRUS. However, each type of surgery is associated with complications, along with the respective hardware being used in rotation osteotomies. Caution is, nevertheless, warranted in interpreting these results in view of the inherent limitations of the included studies.
Topics: Child; Data Analysis; Humans; Quality of Life; Radius; Synostosis; Treatment Outcome; Ulna
PubMed: 33315801
DOI: 10.1097/BPB.0000000000000841 -
Plastic and Reconstructive Surgery Feb 2024Genetic research in nonsyndromic craniosynostosis remains limited compared with syndromic craniosynostosis. This systematic review aimed to comprehensively summarize the...
BACKGROUND
Genetic research in nonsyndromic craniosynostosis remains limited compared with syndromic craniosynostosis. This systematic review aimed to comprehensively summarize the genetic literature of nonsyndromic craniosynostosis and highlight key signaling pathways.
METHODS
The authors performed a systematic literature search of PubMed, Ovid, and Google Scholar databases from inception until December of 2021 using search terms related to nonsyndromic craniosynostosis and genetics. Two reviewers screened titles and abstract for relevance, and three reviewers independently extracted study characteristics and genetic data. Gene networks were constructed using Search Tool for Retrieval of Interacting Genes/Proteins (version 11) analysis.
RESULTS
Thirty-three articles published between 2001 and 2020 met inclusion criteria. Studies were further classified into candidate gene screening and variant identification studies ( n = 16), genetic expression studies ( n = 13), and common and rare variant association studies ( n = 4). Most studies were good quality. Using our curated list of 116 genes extracted from the studies, two main networks were constructed.
CONCLUSIONS
This systematic review concerns the genetics of nonsyndromic craniosynostosis, with network construction revealing TGF-β/BMP, Wnt, and NF-κB/RANKL as important signaling pathways. Future studies should focus on rare rather than common variants to examine the missing heritability in this defect and, going forward, adopt a standard definition.
Topics: Humans; Craniosynostoses; Genomics; Signal Transduction; Databases, Factual
PubMed: 37070824
DOI: 10.1097/PRS.0000000000010522 -
The Journal of Craniofacial SurgeryCraniosynostosis can be associated with raised intracranial pressure (ICP), which can pose deleterious effects on the brain and vision if untreated. Estimating ICP in...
OBJECTIVE
Craniosynostosis can be associated with raised intracranial pressure (ICP), which can pose deleterious effects on the brain and vision if untreated. Estimating ICP in children is challenging, whilst gold standard direct intracranial measurement of ICP is invasive and carries risk. This systematic review aims to evaluate the role of optical coherence tomography (OCT), a noninvasive imaging technique, for detecting raised ICP in children with craniosynostosis.
METHODS
The authors conducted a systematic review of the literature published from inception until 19 August, 2019 in the Cochrane Central Register of Controlled Trials, PubMed, MEDLINE, and EMBASE. Eligible studies evaluated the role of OCT in detecting raised ICP in children aged 0 to 16 years with craniosynostosis. Main outcome measures were sensitivity and specificity of OCT parameters for raised ICP. Quality assessment was performed using the National Institutes of Health Quality Assessment Tool for Observational Cohort and Cross-sectional Studies.
RESULTS
Out of 318 records identified, data meeting the inclusion criteria were obtained from 3 studies. The quality of 2 studies was poor whilst 1 was fair. Optical coherence tomography demonstrated higher sensitivity and specificity for detecting raised ICP compared to fundus examination, clinical history, radiological testing, and visual field testing.
CONCLUSIONS
This systematic review demonstrated a lack of quality evidence for OCT as a screening tool for children with craniosynostosis. Further research is required to clarify the strength of OCT in this role and to determine which OCT parameters are most appropriate.
Topics: Child; Craniosynostoses; Cross-Sectional Studies; Humans; Intracranial Hypertension; Intracranial Pressure; Tomography, Optical Coherence
PubMed: 33185414
DOI: 10.1097/SCS.0000000000006771 -
The Journal of Clinical Endocrinology... Mar 2020P450 oxidoreductase deficiency (PORD) is a rare genetic disorder that is associated with significant morbidity. However there has been limited analysis of reported PORD... (Meta-Analysis)
Meta-Analysis
CONTEXT
P450 oxidoreductase deficiency (PORD) is a rare genetic disorder that is associated with significant morbidity. However there has been limited analysis of reported PORD cases.
OBJECTIVE
To determine, based on the cohort of reported PORD cases, genotype-phenotype relationships for skeletal malformations, maternal virilisation in pregnancy, adrenal insufficiency, and disorders of sexual development (DSD).
DATA SOURCES
PubMed and Web of Science from January 2004 to February 2018.
STUDY SELECTION
Published case reports/series of patients with PORD. Eligible patients were unique, had biallelic mutations, and their clinical features were reported.
DATA EXTRACTION
Patient data were manually extracted from the text of case reports/series. A malformation score, representing the severity of skeletal malformations, was calculated for each patient.
DATA SYNTHESIS
Of the 211 patients published in the literature, 90 were eligible for inclusion. More than 60 unique mutations were identified in this cohort. Four groups of mutations were identified, through regression modeling, as having significantly different skeletal malformation scores. Maternal virilization in pregnancy, reported for 21% of patients, was most common for R457H mutations. Adrenal insufficiency occurred for the majority of patients (78%) and was typically mild, with homozygous R457H mutations being the least deficient. DSD affected most patients (72%), but were less common for males (46XY) with homozygous R457H mutations.
CONCLUSIONS
PORD is a complex disorder with many possible mutations affecting a large number of enzymes. By analyzing the cohort of reported PORD cases, this study identified clear relationships between genotype and several important phenotypic features.
Topics: Adrenal Insufficiency; Antley-Bixler Syndrome Phenotype; Female; Genotype; Humans; Male; Musculoskeletal Abnormalities; Mutation; Phenotype
PubMed: 31825489
DOI: 10.1210/clinem/dgz255 -
Neurogastroenterology and Motility Jun 2022Nocebo effects occurring in patients receiving placebo frequently impact on adverse events reported in randomized controlled trials (RCTs) in irritable bowel syndrome... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Nocebo effects occurring in patients receiving placebo frequently impact on adverse events reported in randomized controlled trials (RCTs) in irritable bowel syndrome (IBS). Therefore, we conducted a systematic review and meta-analysis to assess the proportion of patients randomized to placebo or active drug experiencing any adverse event in trials of licensed drugs for IBS with constipation (IBS-C) or diarrhea (IBS-D), and to estimate the risk of developing adverse events among patients randomized to placebo.
METHODS
We searched MEDLINE, EMBASE CLASSIC and EMBASE, and the Cochrane central register of controlled trials (through June 2021) to identify RCTs comparing licensed drugs with placebo in adults with IBS-C or IBS-D. We generated Forest plots of pooled adverse event rates in both active drug and placebo arms and pooled risk differences (RDs) with 95% confidence intervals (CIs).
KEY RESULTS
There were 21 RCTs of licensed drugs versus placebo in IBS-C (5953 patients placebo) and 17 in IBS-D (3854 patients placebo). Overall, 34.9% and 46.9% of placebo patients in IBS-C and IBS-D trials, respectively, developed at least one adverse event, with a statistically significantly higher risk of any adverse event and withdrawal due to an adverse event with active drug. In IBS-C and IBS-D trials, rates of each individual adverse event were generally higher with active drug. However, in IBS-C trials, only diarrhea or headache was significantly more common with active drug (RD 0.066 (95% CI 0.043-0.088) and RD 0.011 (95% CI 0.002-0.021), respectively), and in IBS-D trials only constipation, nausea, or abdominal pain (RD 0.096 (95% CI 0.054-0.138), 0.014 (95% CI 0.002-0.027), and 0.018 (95% CI 0.002-0.034), respectively).
CONCLUSIONS & INFERENCES
Patients with IBS randomized to placebo have a high risk of reporting adverse events, which might relate to both nocebo and non-nocebo factors. Although patients' expectations and psychosocial factors may be involved, further understanding of the mechanisms are important to control or optimize these effects in RCTs, as well as in clinical practice.
Topics: Abdominal Pain; Adult; Constipation; Craniosynostoses; Diarrhea; Humans; Intellectual Disability; Irritable Bowel Syndrome; Nocebo Effect; Randomized Controlled Trials as Topic
PubMed: 34672052
DOI: 10.1111/nmo.14279