Correction of metopic synostosis utilizing an in situ bandeau approach.
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ABSTRACT:
SUBMITTER: Hubli EH
PROVIDER: S-EPMC4154973 | biostudies-other | 2014 Aug
REPOSITORIES: biostudies-other
Similar Datasets
Project description:Sagittal synostosis is the most commonly treated form of craniosynostosis exhibiting an incidence of 1:5000 births.(1) Early closure of the sagittal suture is the cause of the classic phenotypic presentation of an elongated head, which is characterized by a narrow and low occiput, a saddle-shaped parietal region, and noticeable frontal bossing. Early surgical intervention is the treatment of choice and surgical options range from simple suture excision to total cranial vault remodeling. Noting that a significant proportion of patients present with limited frontal bossing and asymmetry that is more pronounced in the posterior cranium, the author developed the functional aesthetic approach to reconstruction. This operative technique addresses the changes noted in the posterior two-thirds of the cranial vault, completely correcting the sequelae associated with early closure of the sagittal suture. As an added advantage, the reconstructive paradigm is designed to create a dynamic temporal-occipital component that will activate when a child rests in the supine position. This enhances widening of the posterior cranium thus improving long-term results.
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2016-11-30 | GSE73549 | GEO
Project description:We present the successful surgical treatment and management of metacarpal synostosis in a near-skeletally mature 15-year-old patient, the significance of which is underscored by an updated review of the literature. We additionally outline a reliable surgical approach for patients with similar clinical presentations and disease severity.
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Project description:We propose a landmark-based, virtual coordinate system, specifically designed for assessment of asymmetrical craniofacial anatomy associated with unicoronal synostosis.MethodCT scans of 33 patients with nonsyndromic unicoronal synostosis were included. Proposed mid-sagittal plane was compared with commonly used sagittal planes: (1) nasion, sella, and basion (N-S-BA); (2) midplane of bilateral frontozygomatic sutures (midFZ); and (3) the skull gravity center plane, to evaluate reliability and validity in the assessments of the anterior and posterior skull base.ResultsThe proposed midplane is similar to the midFZ plane in describing the direction of the anterior skull base. However, it has less bias than the N-S-BA (P < 0.001), and the gravity center planes (P < 0.001). The proposed midplane measures the direction of the posterior skull base plane, similar to the midFZ and gravity center planes, but it has less measurement deviation than the N-S-BA plane (P < 0.001). The most protrusive point on the frontal bone in unicoronal patients is contralateral to the fused suture and distant from the mid-sagittal plane by 13.93 ± 4.01 mm. In addition, it is more anteriorly positioned, by 5.32 mm (P < 0.001), when compared with the corresponding point on the synostotic side. The uppermost point of the supraorbital rim on the synostotic side is cephalic to that of the contralateral side by 4.09 mm (P < 0.001).ConclusionsPrioritized orientation of an averaged Frankfort horizontal plane, followed by the location of the mid-sagittal and coronal planes, can generate a reliable and valid coordinate framework for the assessment of asymmetric skull shape in unicoronal synostosis.
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Project description:[This corrects the article DOI: 10.1371/journal.pone.0232311.].
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Project description:Multiple-synostosis syndrome is an autosomal dominant disorder characterized by progressive symphalangism, carpal/tarsal fusions, deafness, and mild facial dysmorphism. Heterozygosity for functional null mutations in the NOGGIN gene has been shown to be responsible for the disorder. However, in a cohort of six probands with multiple-synostosis syndrome, only one was found to be heterozygous for a NOGGIN mutation (W205X). Linkage studies involving the four-generation family of one of the mutation-negative patients excluded the NOGGIN locus, providing genetic evidence of locus heterogeneity. In this family, polymorphic markers flanking the GDF5 locus were found to cosegregate with the disease, and sequence analysis demonstrated that affected individuals in the family were heterozygous for a novel missense mutation that predicts an R438L substitution in the GDF5 protein. Unlike mutations that lead to haploinsufficiency for GDF5 and produce brachydactyly C, the protein encoded by the multiple-synostosis-syndrome allele was secreted as a mature GDF5 dimer. These data establish locus heterogeneity in multiple-synostosis syndrome and demonstrate that the disorder can result from mutations in either the NOGGIN or the GDF5 gene.
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Project description:BACKGROUND:Hyperopia, or hypermetropia (also known as long-sightedness or far-sightedness), is the condition where the unaccommodating eye brings parallel light to a focus behind the retina instead of on it. Hyperopia can be corrected with both non-surgical and surgical methods, among them photorefractive keratectomy (PRK) and laser assisted In situ keratomileusis (LASIK). There is uncertainty as to whether hyperopic-PRK or hyperopic-LASIK is the better method. OBJECTIVES:The objectives of this review were to determine whether PRK or LASIK leads to more reliable, stable and safe results when correcting a hyperopic refractive error. SEARCH METHODS:We searched CENTRAL (which contains the Cochrane Eyes and Vision Group Trials Register) (The Cochrane Library 2012, Issue 2), MEDLINE (January 1950 to February 2012), EMBASE (January 1980 to February 2012), Latin American and Caribbean Literature on Health Sciences (LILACS) (January 1982 to February 2012), the metaRegister of Controlled Trials (mRCT) (www.controlled-trials.com), ClinicalTrials.gov (www.clinicaltrials.gov) and the WHO International Clinical Trials Registry Platform (ICTRP) (www.who.int/ictrp/search/en). There were no date or language restrictions in the electronic searches for trials. The electronic databases were last searched on 17 February 2012. When trials are included in the review we will search the reference lists of the studies included in the review for information about further trials. We will use the Science Citation Index to search for papers that cite any studies included in this review. We did not handsearch journals or conference proceedings specifically for this review. SELECTION CRITERIA:We planned to include only randomised controlled trials (RCTs) comparing PRK against LASIK for correction of hyperopia and then perform a sensitivity analysis of pre- and post-millennial trials since this is the mid-point in the history of both PRK and LASIK. DATA COLLECTION AND ANALYSIS:We did not identify any studies that met the inclusion criteria for this review. MAIN RESULTS:As no studies met the inclusion criteria for this review, we discussed the results of non-randomised trials comparing hyperopic-PRK with hyperopic-LASIK. AUTHORS' CONCLUSIONS:No robust, reliable conclusions could be reached, but the non-randomised trials reviewed appear to be in agreement that hyperopic-PRK and hyperopic-LASIK are of comparable efficacy. High quality, well-planned open RCTs are needed in order to obtain a robust clinical evidence base.
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