RESUMO
PURPOSE: Hand function outcomes of primary nerve reconstruction for total brachial plexus birth injury (BPBI) are confounded by nerve roots left in continuity, inclusion of secondary procedures, and no assessment of the ability to perform activities of daily living. The purpose of this study was to evaluate the long-term hand function outcomes in a cohort of patients with a complete BPBI who had no nerve root in continuity prior to primary nerve reconstruction targeting the lower trunk. METHODS: This single-center retrospective case series of complete BPBI included patients who underwent primary nerve reconstruction. The outcomes were assessed using the active movement scale (AMS) and brachial plexus outcome measure preoperatively and at the age of 4 and 8 years. RESULTS: Fifty patients with a complete BPBI, of whom 82% (41/50) had an avulsion of C8-T1, underwent primary nerve reconstruction at a mean age of 4.1 months. Compared with the preoperative AMS scores, a statistically significant increase of AMS scores was observed at 4 and 8 years of age for all movements except forearm pronation. Between 4 and 8 years of age, there was a statistically significant improvement of external rotation of the shoulder and elbow flexion as well as diminution of thumb flexion. In the brachial plexus outcome measure assessment, there were 83% (24/29) at 4 years and 81% (21/26) at 8 years who had sufficient functional movement to perform wrist, finger, and thumb activities. CONCLUSIONS: Functional hand outcome was restored to sufficiently perform bimanual activity tasks in 81% (21/26) of patients with a complete BPBI at 8 years of age. This affirmed that primary nerve reconstruction reinnervating the lower trunk can result in a functional extremity. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.
Assuntos
Traumatismos do Nascimento , Neuropatias do Plexo Braquial , Plexo Braquial , Transferência de Nervo , Atividades Cotidianas , Traumatismos do Nascimento/cirurgia , Plexo Braquial/lesões , Plexo Braquial/cirurgia , Neuropatias do Plexo Braquial/cirurgia , Criança , Pré-Escolar , Humanos , Lactente , Estudos RetrospectivosRESUMO
BACKGROUND: Vascular anomalies comprise highly variable pathophysiology and commonly pose diagnostic and management dilemmas. Consequently, patients often benefit from input from multiple specialists. This study describes the inception of a multidisciplinary team (MDT) Vascular Anomaly Clinic (VAC) in a tertiary paediatric centre, and the subsequent experience managing this complex patient group. METHODS: This was a retrospective study of paediatric patients (< 18 years old) attending an MDT VAC from its inception in October 2012 until November 2019. Patient demographics, presentation, diagnosis and management were reviewed. RESULTS: One hundred and thirty-three paediatric patients were seen over 7 years with a median age of 9.8 years. Vascular malformations were the most common diagnosis (88%), with venous malformations predominating (27%). The most common symptoms were pain (46%) and swelling (34%). Patients often required ≥ 2 investigations, with Doppler ultrasound (86%) and magnetic-resonance imaging (61%) being most common. Management included surgery (27%), sclerotherapy (26%), compression garments (23%), analgesia (12%), laser (15%), embolisation (5%) and sirolimus (3%). CONCLUSIONS: The complex nature of vascular anomalies and high proportion of patients requiring multi-specialty management justified the establishment of an MDT VAC in our centre. Our experience demonstrates the success of an efficient one-stop MDT environment in the management of these challenging conditions. LEVEL OF EVIDENCE: IV.
Assuntos
Embolização Terapêutica/métodos , Imageamento por Ressonância Magnética/métodos , Escleroterapia/métodos , Malformações Vasculares/terapia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Resultado do Tratamento , Malformações Vasculares/diagnósticoRESUMO
The Oberg, Manske, and Tonkin (OMT) classification of congenital hand and upper limb anomalies was proposed in 2010 as a replacement for the Swanson International Federation of Societies for Surgery of the Hand classification system, which has been the accepted system of classification for the international surgical community since 1976. The OMT system separates malformations from deformations and dysplasias. Malformations are subdivided according to the axis of formation and differentiation that is primarily affected and whether the anomalies involve the whole limb or the hand plate. This review outlines the development of classification systems and explores the difficulty of incorporating our current knowledge of limb embryogenesis at a molecular level into current systems. An assessment of the efficacy of the OMT classification demonstrates acceptable inter- and intraobserver reliability. A prospective review of 101 patients confirms that all diagnoses could be classified within the OMT system. Consensus expert opinion allowed classification of those conditions for which there is not a clear understanding of the mechanism of dysmorphology. A refined and expanded OMT classification is presented.
Assuntos
Deformidades Congênitas da Mão/classificação , Deformidades Congênitas das Extremidades Superiores/classificação , Desenvolvimento Embrionário , Humanos , Inquéritos e QuestionáriosRESUMO
PURPOSE: To demonstrate the utility of computed tomography angiographic planning of a single-stage, complete release of syndactyly in Apert syndrome. METHODS: Computed tomography angiograms were performed as a preoperative planning tool in 6 patients. Five came to surgery. All had a single-stage operation for complete release of their syndactyly. RESULTS: Five patients, ranging from Upton type 1 to type 3 Apert hand deformities, have had preoperative computed tomography angiography that delineated the vascular anatomy. This allowed planning and execution of a single-stage syndactyly release in all patients. The preoperative imaging identified noteworthy abnormalities in vascular anatomy that were incorporated into surgical planning. CONCLUSIONS: The protocol presented allows preoperative planning and single-stage operation for complete release of syndactyly in patients with Apert syndrome.
Assuntos
Angiografia/métodos , Dedos/anormalidades , Procedimentos Ortopédicos/métodos , Sindactilia/diagnóstico por imagem , Sindactilia/cirurgia , Acrocefalossindactilia/diagnóstico por imagem , Acrocefalossindactilia/cirurgia , Criança , Pré-Escolar , Feminino , Dedos/cirurgia , Seguimentos , Deformidades Congênitas da Mão/diagnóstico por imagem , Deformidades Congênitas da Mão/cirurgia , Humanos , Lactente , Masculino , Estudos Retrospectivos , Medição de Risco , Estudos de Amostragem , Tomografia Computadorizada por Raios X/métodos , Resultado do TratamentoAssuntos
Nervo Mediano , Tendões , Mãos , Humanos , Nervo Mediano/diagnóstico por imagem , Músculos , Tendões/diagnóstico por imagem , Tendões/cirurgia , PolegarRESUMO
We present a draft assembly of the genome of European pear (Pyrus communis) 'Bartlett'. Our assembly was developed employing second generation sequencing technology (Roche 454), from single-end, 2 kb, and 7 kb insert paired-end reads using Newbler (version 2.7). It contains 142,083 scaffolds greater than 499 bases (maximum scaffold length of 1.2 Mb) and covers a total of 577.3 Mb, representing most of the expected 600 Mb Pyrus genome. A total of 829,823 putative single nucleotide polymorphisms (SNPs) were detected using re-sequencing of 'Louise Bonne de Jersey' and 'Old Home'. A total of 2,279 genetically mapped SNP markers anchor 171 Mb of the assembled genome. Ab initio gene prediction combined with prediction based on homology searching detected 43,419 putative gene models. Of these, 1219 proteins (556 clusters) are unique to European pear compared to 12 other sequenced plant genomes. Analysis of the expansin gene family provided an example of the quality of the gene prediction and an insight into the relationships among one class of cell wall related genes that control fruit softening in both European pear and apple (Malus × domestica). The 'Bartlett' genome assembly v1.0 (http://www.rosaceae.org/species/pyrus/pyrus_communis/genome_v1.0) is an invaluable tool for identifying the genetic control of key horticultural traits in pear and will enable the wide application of marker-assisted and genomic selection that will enhance the speed and efficiency of pear cultivar development.
Assuntos
Cromossomos de Plantas/genética , Genes de Plantas , Genoma de Planta , Pyrus/genética , Mapeamento Cromossômico , DNA de Plantas/genética , Europa (Continente) , Evolução Molecular , Marcadores Genéticos , Genômica , Sequenciamento de Nucleotídeos em Larga Escala , Malus/genética , Filogenia , Polimorfismo de Nucleotídeo Único/genética , Proteoma/análise , RNA de Plantas/genética , Sequências Repetitivas de Ácido NucleicoRESUMO
Quilted full thickness skin grafts were used to cover surgical defects in the lower limb following excision of skin lesions in 92 cases. Patients were mobilised early and discharged home. 93.4% of grafted area had taken by 2 weeks post operatively. Minimal after care is required and highly acceptable cosmetic donor and graft sites were achieved.