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Sheffield, United Kingdom

Divecha H.M.,Salford Royal NHS Foundation Trust | Siddique I.,Salford Royal NHS Foundation Trust | Breakwell L.M.,Sheffield Childrens NHS Foundation Trust | Millner P.A.,Leeds General Infirmary
European Spine Journal | Year: 2014

Purpose: To provide a 5-year national overview of corrective spinal deformity surgery in the United Kingdom. Methods: Since 2008, the British Scoliosis Society has collected predefined data on spinal deformity surgeries carried out by its members. Participating units collect and submit annual anonymised data pertaining to the number of deformity surgeries performed, age groups, aetiology (idiopathic versus non-idiopathic), mortality, deep infections and neurological deficit (complete, incomplete without resolution and incomplete with resolution). Overall aetiology proportions and complication rates were calculated, as well as funnel plots with control limits of individual complication rates by cases performed. Results: Between 2008 and 2012, 9,295 corrective spinal deformity procedures were performed. 4,445 (48 %) were recorded as idiopathic and 2,917 (31 %) as non-idiopathic. There were a total of 339 complications (3.6 %). Deep infections occurred in 222 (2.82 %), incomplete neurological deficit with resolution in 59 (0.65 %), incomplete neurological deficit without resolution in 29 (0.32 %), complete neurological deficit in 12 (0.13 %) and mortality in 17 (0.19 %). Conclusion: The complication rates reported in this study compare well with previously published studies. These reported results will hopefully serve to provide a benchmark for units in the UK providing corrective spinal deformity surgery to allow individual units to compare their complication rates against national averages and to provide national complication figures to aid in the consenting process of patients. Use of a spinal deformity registry, such as the British Spine Registry, is required to ensure ongoing service development and optimal healthcare provision. © 2014 Springer-Verlag Berlin Heidelberg.

Balasubramanian M.,Sheffield Clinical Genetics Service | Smith K.,Sheffield Diagnostic Genetics Service | Mordekar S.R.,Sheffield Childrens NHS Foundation Trust | Parker M.J.,Sheffield Clinical Genetics Service
European Journal of Medical Genetics | Year: 2011

Chromosome 16p13.11 has recently been reported as a region of recurrent microdeletion/duplication, which may contribute to a specific clinical phenotype of epilepsy, significant learning difficulties and distinct facial dysmorphism. The 16p13.11 microdeletion syndrome is associated with schizophrenia, developmental delay and idiopathic generalised epilepsy. Haploinsufficiency of genes in 16p13.11 has been suggested as contributing to the pathogenicity of this microdeletion syndrome. We report a three-year-old boy with the 16p13.11 microdeletion syndrome, identified on array CGH, and describe his clinical phenotype, thereby adding to the existing literature on this newly-described microdeletion syndrome. We discuss the function and potential relevance of the genes in this region with regards to the features described in this condition. © 2011 Elsevier Masson SAS.

Balasubramanian M.,Sheffield Clinical Genetics Service | Sprigg A.,Sheffield Childrens NHS Foundation Trust | Johnson D.S.,Sheffield Clinical Genetics Service
American Journal of Medical Genetics, Part A | Year: 2010

IMAGe syndrome is a rare condition, first reported by Vilain et al., in 1999, characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis. We report on a 7-year-old boy with IMAGe syndrome, who in addition to the features in the acronym also has bilateral sensorineural hearing loss which has not been reported in previously published cases of IMAGe syndrome. We discuss the clinical presentation in our patient and review the literature in this rare multisystem disorder. © 2010 Wiley-Liss, Inc.

Peters R.T.,University of Manchester | Burge D.M.,University of Southampton | Marven S.S.,Sheffield Childrens NHS Foundation Trust
Annals of the Royal College of Surgeons of England | Year: 2013

INTRODUCTION Congenital lung malformations are rare lesions that are most commonly diagnosed antenatally. Management of such lesions, particularly those that are asymptomatic, remains controversial. We undertook a survey to ascertain current practice of surgeons in the UK and Ireland. METHODS All consultant members of the British Association of Paediatric Surgeons were asked to complete a survey on congenital lung malformations with respect to antenatal management, symptomatic and asymptomatic lesions, and operative techniques. RESULTS Responses were received from 20 paediatric surgical centres and highlighted the ongoing variability in management of such lesions, particularly those that are asymptomatic. Twenty per cent of surgeons never resect an asymptomatic lesion and twenty-four per cent always do. The remainder intervene selectively, with size being the most commonly stated indication. Most resections are undertaken via thoracotomy although 35% of surgeons use thoracoscopy for some procedures. CONCLUSIONS National data based on congenital anomaly registers are needed to determine the natural history of these malformations and to guide future management.

Roberts J.,Sheffield Childrens NHS Foundation Trust
Current Opinion in Urology | Year: 2010

Purpose of review: Hypospadias surgery has been in continuous evolution for many years with steadily improving reported results. Despite this many unanswered questions on its cause, management and outcomes remain. Recent research has done little to clarify most matters. Recent findings: There is increasing evidence of a balance of genetic and developmental factors in the development of hypospadias, but there is doubt whether the incidence of hypospadias is increasing or not. Many technical aspects of hypospadias repair and variations of perioperative management seem to have little effect on outcome, whereas the age at which surgery is performed may. Although efforts are being made to relate anatomical findings to outcome, a lack of objective assessment and standardization is a handicap. Severe hypospadias, particularly that associated with significant chordee, remains challenging although strategies for management are being developed. The future may lie in development of autologous tissue culture for these severe cases. Summary: Further development of hypospadias surgery would benefit from objective, standardized methods of describing anatomy and outcome measures to facilitate effective comparison of techniques and procedures. © 2010 Wolters Kluwer Health | Lippincott Williams & Wilkins.

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