A functional aesthetic approach to correcting the sequelae of sagittal synostosis.
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ABSTRACT:
SUBMITTER: Hubli EH
PROVIDER: S-EPMC4154977 | biostudies-other | 2014 Aug
REPOSITORIES: biostudies-other
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Project description:Background:Bilambdoid and sagittal synostosis (BLSS), also called "Mercedes Benz synostosis," is a multisutural craniosynostosis that has been described as a specific entity. However, this synostotic pattern can also be found in syndromic craniostenosis. To better define this entity we reviewed our experience with bilambdoid and sagittal synostosis. Methods:We searched our prospective database for cases of bilambdoid and sagittal synostosis among all types of craniosynostosis. Two groups were distinguished - patients with isolated BLSS and the group of syndromic craniostenosis for whom BLSS was observed at initial presentation. We reviewed the clinical findings, associated diseases, and their management specifically for isolated BLSS patients. Results:Thirty-nine patients were diagnosed with bilambdoid and sagittal synostosis among 4250 cases of craniosynostosis treated in our department over a period of 42 years. Among them, 8 were finally diagnosed as Crouzon syndrome. Of the 31 patients identified with isolated bilambdoid and sagittal synostosis, 25 (81%) were males and 6 (19%) were females. The average age at diagnosis was 17 months. At diagnosis, 16% of the population presented with papillary edema and 58% posterior digitate impressions. Two types of craniofacial dysmorphy were observed - a pattern with narrow occiput (71% of cases) and a pattern with dolichocephaly (29% of cases). Cerebellar tonsillar herniation was the most frequently associated malformation (61% of the isolated BLSS). Surgical management evolved during the years, and several surgical techniques were used to treat patients with BLSS, including isolated biparietal vault remodeling, posterior vault remodelling, and posterior vault expansion with internal or external distraction. In some cases, a craniocervical junction decompression was also performed. The mean follow-up was 82 months (7 years). The overall mental development was within normal limits in most children, but a mental delay was found in 25%. Conclusion:Bilambdoid and sagittal synostosis constitute an isolated entity in almost 80% of the cases, whereas in the remaining 20% it is part of a faciocraniosynostosis syndrome. Two phenotypes may be found. Early surgical management is indicated, and several techniques can be used in this heterogeneous population. A cerebellar tonsillar prolapse is present in a majority of cases.
| S-EPMC6194734 | biostudies-other
Project description:ImportanceFindings on the cognitive, behavioral, and psychological functioning of individuals with sagittal synostosis (SS) are highly disparate, limiting their clinical utility.ObjectiveTo identify and review research on individuals with SS and to determine whether, and to what extent, they experience cognitive, behavioral, and psychological difficulties compared with their healthy peers or normative data for each measure.Data sourcesPubMed, Scopus, Embase, and PsycINFO were searched through January 2021 with no date restrictions. Scopus citation searches and manual checks of the reference lists of included studies were conducted.Study selectionStudies included participants of any age who had received a diagnosis of single-suture (isolated or nonsyndromic) SS or scaphocephaly and who had been assessed on cognitive, behavioral, and psychological outcomes.Data extraction and synthesisData were independently extracted by 2 reviewers. Case-control outcomes (individuals with SS vs healthy peers or normative data) were compared using random-effects models with 3 effect sizes calculated: weighted Hedges g (gw), odds ratios (ORs), and mean prevalence rates. This study follows the Meta-analysis of Observational Studies in Epidemiology (MOOSE) reporting guidelines.Main outcomes and measuresFindings were categorized by surgical status (conservatively managed, presurgery, postsurgery, or combined); domain (eg, general cognition); type of cognitive, behavioral, or psychological measure (objective or subjective); and source of comparison data (peers or normative data).ResultsData from 32 studies, involving a pooled sample of 1422 children and adults with SS (mean [SD] age at assessment, 5.7 [6.6] years; median [interquartile range] age, 3.3 [0.5-10.3] years), were analyzed. Data on sex were available for 824 participants, and 642 (78%) were male. Individual study results varied substantially. Objective tests identified significant moderate group differences on 3 of 16 examined domains: presurgical motor functioning (3 studies; gw = -0.42; 95% CI, -0.67 to -0.18; P < .001), postsurgical short-term memory (2 studies; gw = -0.45; 95% CI, -0.72 to -0.17; P < .001), and postsurgical visuospatial ability (6 studies; gw = 0.31; 95% CI, 0.18 to 0.44; P < .001). Prevalence estimates and ORs varied widely, with 15 studies showing prevalence estimates ranging from 3% to 37%, and 3 studies showing ORs ranging from 0.31 (95% CI, 0.01 to 6.12) for processing speed in the conservatively managed sample to 4.55 (95% CI, 0.21 to 98.63) for postsurgical visuospatial abilities.Conclusions and relevanceIn this meta-analysis, findings for the functioning of participants with SS were highly disparate and often of low quality, with small samples sizes and control groups rarely recruited. Nonetheless, the findings suggest that some individuals with SS experience negative outcomes, necessitating routine assessment.
| S-EPMC8438597 | biostudies-literature
Project description:Frontometaphyseal dysplasia (FMD), also known as Gorlin-Cohen syndrome, is a rare genetic syndrome. This syndrome affects the skeletal system and connective tissue, and causes a wide spectrum of manifestations of the skull, tubular bones, cardiovascular system, urinary system, and/or gastrointestinal system. Craniofacial findings of FMD are characterized by protruding supraorbital ridge, broad nasal bridge, hypertelorism, down-slanting palpebral fissures, and/or micrognathia. We describe a case of a 2-year-old girl diagnosed with sagittal synostosis accompanied with FMD. She presents anterior sagittal synostosis cranial form, compressed cerebrospinal fluid space (which suggested increased intracranial pressure), and the supraorbital hyperostosis. She underwent multi-directional cranial distraction osteogenesis in the calvaria and shaving of the supraorbital ridges. Despite concerns about bone fragility associated with FMD, the surgery was accomplished as usual. The patient had no intra- and postoperative complications. After 6 months of follow-up, the cranial shape has improved and the cerebrospinal fluid space has widened, but the supraorbital ridge has protruded again. Re-protrusion of the supraorbital ridge appears to be due to age-appropriate vigorous osteogenesis. The multi-directional cranial distraction osteogenesis procedure has been useful for treating sagittal synostosis even concomitant with FMD.
| S-EPMC8078314 | biostudies-literature
Project description:Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital malformation characterised by limb and craniofacial anomalies, caused by heterozygous mutation or deletion of GLI3. We report four boys and a girl who were presented with trigonocephaly due to metopic synostosis, in association with pre- and post-axial polydactyly and cutaneous syndactyly of hands and feet. Two cases had additional sagittal synostosis. None had a family history of similar features. In all five children, the diagnosis of GCPS was confirmed by molecular analysis of GLI3 (two had intragenic mutations and three had complete gene deletions detected on array comparative genomic hybridisation), thus highlighting the importance of trigonocephaly or overt metopic or sagittal synostosis as a distinct presenting feature of GCPS. These observations confirm and extend a recently proposed association of intragenic GLI3 mutations with metopic synostosis; moreover, the three individuals with complete deletion of GLI3 were previously considered to have Carpenter syndrome, highlighting an important source of diagnostic confusion.
| S-EPMC3128494 | biostudies-literature
Project description:Background:Categorizing protein coding sequences into one family, if the proteins they encode perform the same biochemical function, and then tabulating the relative abundances among all the families, is a widely-adopted practice for functional profiling of a metagenomic sample. By homology searching of metagenomic sequencing reads against a protein database, the relative abundance of a family can be represented by the number of reads aligned to its members. However, it has been observed that, for short reads generated by next-generation sequencing platforms, some may be erroneously assigned to the functional families they are not associated to. This commonly occurred phenomenon is termed as cross-annotation. Current methods for functional profiling of a metagenomic sample use empirical cutoff values, to select the alignments and ignore such cross-annotation problem, or employ summarized equation to do a simple adjustment. Result:By introducing latent variables, we use the Probabilistic Latent Semantic Analysis to model the proportions of reads assigned to functional families in a metagenomic sample. The approach can be applied on a metagenomic sample after the list of the true functional families being obtained or estimated. It was implemented in metagenomic samples functionally characterized by the database of Clusters of Orthologous Groups of proteins, and successfully addressed the cross-annotation issue on both in vitro-simulated, bioinformatics tool simulated metagenomic samples, and a real-world data. Conclusions:Correcting cross-annotation will increase the accuracy of the functional profiling of a metagenome generated by short reads. It will further benefit differential abundance analysis of metagenomic samples under different conditions.
| S-EPMC5922784 | biostudies-literature
Project description:Metopic craniosynostosis is a common growth disturbance in the infant cranium, second only to sagittal synostosis. Presenting symptoms are usually of a clinical nature and are defined by an angular forehead, retruded lateral brow, bitemporal narrowing, and a broad-based occiput. These changes create the pathognomonic trigonocephalic cranial shape. Aesthetic in nature, these morphological changes do not constitute the only developmental issues faced by children who present with this malady. Recent studies and anecdotal evidence have also demonstrated that children who present with metopic synostosis may face issues with respect to intellectual and/or psychological development. The authors present an elegant approach to the surgical reconstruction of the trigonocephalic cranium using an in situ bandeau approach.
| S-EPMC4154973 | biostudies-other
Project description:BACKGROUND:Fine particulate matter (PM2.5) is associated with various adverse health outcomes. The MicroPEM (RTI, NC), a miniaturized real-time portable particulate sensor with an integrated filter for collecting particles, has been widely used for personal PM2.5 exposure assessment. Five-day deployments were targeted on a total of 142 deployments (personal or residential) to obtain real-time PM2.5 levels from children living in New York City and Baltimore. Among these 142 deployments, 79 applied high-efficiency particulate air (HEPA) filters in the field at the beginning and end of each deployment to adjust the zero level of the nephelometer. However, unacceptable baseline drift was observed in a large fraction (> 40%) of acquisitions in this study even after HEPA correction. This drift issue has been observed in several other studies as well. The purpose of the present study is to develop an algorithm to correct the baseline drift in MicroPEM based on central site ambient data during inactive time periods. METHOD:A running baseline & gravimetric correction (RBGC) method was developed based on the comparison of MicroPEM readings during inactive periods to ambient PM2.5 levels provided by fixed monitoring sites and the gravimetric weight of PM2.5 collected on the MicroPEM filters. The results after RBGC correction were compared with those using HEPA approach and gravimetric correction alone. Seven pairs of duplicate acquisitions were used to validate the RBGC method. RESULTS:The percentages of acquisitions with baseline drift problems were 42%, 53% and 10% for raw, HEPA corrected, and RBGC corrected data, respectively. Pearson correlation analysis of duplicates showed an increase in the coefficient of determination from 0.75 for raw data to 0.97 after RBGC correction. In addition, the slope of the regression line increased from 0.60 for raw data to 1.00 after RBGC correction. CONCLUSIONS:The RBGC approach corrected the baseline drift issue associated with MicroPEM data. The algorithm developed has the potential for use with data generated from other types of PM sensors that contain a filter for weighing as well. In addition, this approach can be applied in many other regions, given widely available ambient PM data from monitoring networks, especially in urban areas.
| S-EPMC5911226 | biostudies-literature
Project description:In observational studies, misclassification of exposure is ubiquitous and can substantially bias the estimated association between an outcome and an exposure. Although misclassification in a single observational study has been well studied, few papers have considered it in a meta-analysis. Meta-analyses of observational studies provide important evidence for health policy decisions, especially when large randomized controlled trials are unethical or unavailable. It is imperative to account properly for misclassification in a meta-analysis to obtain valid point and interval estimates. In this paper, we propose a novel Bayesian approach to filling this methodological gap. We simultaneously synthesize two (or more) meta-analyses, with one on the association between a misclassified exposure and an outcome (main studies), and the other on the association between the misclassified exposure and the true exposure (validation studies). We extend the current scope for using external validation data by relaxing the "transportability" assumption by means of random effects models. Our model accounts for heterogeneity between studies and can be extended to allow different studies to have different exposure measurements. The proposed model is evaluated through simulations and illustrated using real data from a meta-analysis of the effect of cigarette smoking on diabetic peripheral neuropathy.
| S-EPMC6779051 | biostudies-literature
Project description:The aesthetic value of landscapes contributes to human well-being. However, studies which have investigated the link between biodiversity and ecosystem services have not taken aesthetic value into account. In this study we evaluated how the aesthetics of coralligenous reefs, a key marine ecosystem in the Mediterranean, is perceived by the general public and how aesthetic preferences are related to biodiversity facets (taxonomic, phylogenetic and functional diversities). We performed both biodiversity measures and online-surveys of aesthetic perception on photographic quadrats sampled along the French Mediterranean coast. Our results show that species richness and functional richness have a significant positive effect on aesthetic value. Most of the ecological literature, exploring the relationship between biodiversity and ecosystem functioning and service has focused so far on 'economical' aspects of biodiversity (provision or regulation). Our results illustrate that cultural facets, such as 'beauty', should also be central in our motivations to preserve ecological diversity.
| S-EPMC5039688 | biostudies-literature
Project description:MOTIVATION:The rapid development of genotyping technology and extensive cataloguing of single nucleotide polymorphisms (SNPs) across the human genome have made genetic association studies the mainstream for gene mapping of complex human diseases. For many diseases, the most practical approach is the population-based design with unrelated individuals. Although having the advantages of easier sample collection and greater power than family-based designs, unrecognized population stratification in the study samples can lead to both false-positive and false-negative findings and might obscure the true association signals if not appropriately corrected. METHODS:We report PHYLOSTRAT, a new method that corrects for population stratification by combining phylogeny constructed from SNP genotypes and principal coordinates from multi-dimensional scaling (MDS) analysis. This hybrid approach efficiently captures both discrete and admixed population structures. RESULTS:By extensive simulations, the analysis of a synthetic genome-wide association dataset created using data from the Human Genome Diversity Project, and the analysis of a lactase-height dataset, we show that our method can correct for population stratification more efficiently than several existing population stratification correction methods, including EIGENSTRAT, a hybrid approach based on MDS and clustering, and STRATSCORE , in terms of requiring fewer random SNPs for inference of population structure. By combining the flexibility and hierarchical nature of phylogenetic trees with the advantage of representing admixture using MDS, our hybrid approach can capture the complex population structures in human populations effectively. SOFTWARE AVAILABILITY:Codes can be downloaded from http://people.pcbi.upenn.edu/ approximately lswang/phylostrat/ CONTACT:mingyao@upenn.edu; iswang@upenn.edu. SUPPLEMENTARY INFORMATION:Supplementary data are available at Bioinformatics online.
| S-EPMC2832820 | biostudies-literature