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Sklia D.,City University London | Kyriacou P.A.,City University London | Petros A.J.,Great Ormond Street Childrens Hospital
IFMBE Proceedings | Year: 2016

Sidestream dark field (SDF) spectral imaging has been used to take pictures of capillaries within the skin. The most common location to place the SDF is the mucosa area in the mouth. However, in neonates the sublingual area is not easily accessible, thus an optimal location on the skin should be found. This feasibility study aims to determine the optimal site, out of five body areas on the neonate from which to obtain image of capillary microcirculation. These preliminary results indicate that the chest wall can be considered as the optimal measurement location on the skin when using the SDF modality. © Springer International Publishing Switzerland 2016.

O'Connor G.,Great Ormond Street Childrens Hospital | O'Connor G.,University College London | Nicholls D.,Foundation Medicine
Nutrition in Clinical Practice | Year: 2013

The rate of adolescents presenting with anorexia nervosa (AN) is increasing. Medically unstable adolescents are admitted to the hospital for nutrition restoration. A lack of global consensus on appropriate refeeding practices of malnourished patients has resulted in inconsistent refeeding practices. Refeeding hypophosphatemia (RH) is the most common complication associated with refeeding the malnourished patient. This review sought to identify the range of refeeding rates adopted globally and the implication that total energy intake and malnutrition may have on RH while refeeding adolescents with anorexia nervosa. Studies were identified by a systematic electronic search of medical databases from 1980 to September 2012. Seventeen publications were identified, including 6 chart reviews, 1 observational study, and 10 case reports, with a total of 1039 subjects. The average refeeding energy intake was 1186 kcal/d, ranging from 125-1900 kcal/d, with a mean percentage median body mass index (% mBMI) of 78%. The average incidence rate of RH was 14%. A significant correlation between malnutrition (% mBMI) and post-refeeding phosphate was identified (R2 = 0.6, P =.01). This review highlights the disparity in refeeding rates adopted internationally in treating malnourished adolescents with anorexia nervosa. Based on this review, the severity of malnutrition seems to be a marker for the development of RH more so than total energy intake. © 2013 American Society for Parenteral and Enteral Nutrition.

Jenkinson M.D.,The Walton Center Foundation Trust | Jenkinson M.D.,University of Liverpool | Gamble C.,University of Liverpool | Hartley J.C.,Great Ormond Street Childrens Hospital | And 7 more authors.
Trials | Year: 2014

Background: Insertion of a ventriculoperitoneal shunt (VPS) for the treatment of hydrocephalus is one of the most common neurosurgical procedures in the UK, but failures caused by infection occur in approximately 8% of primary cases. VPS infection is associated with considerable morbidity and mortality and its management results in substantial cost to the health service. Antibiotic-impregnated (rifampicin and clindamycin) and silver-impregnated VPS have been developed to reduce infection rates. Whilst there is some evidence showing that such devices may lead to a reduction in VPS infection, there are no randomised controlled trials (RCTs) to support their routine use.Methods/design: Overall, 1,200 patients will be recruited from 17 regional neurosurgical units in the UK and Ireland. Patients of any age undergoing insertion of their first VPS are eligible. Patients with previous indwelling VPS, active and on-going cerebrospinal fluid (CSF) or peritoneal infection, multiloculated hydrocephalus requiring multiple VPS or neuroendoscopy, and ventriculoatrial or ventriculopleural shunt planned will be excluded. Patients will be randomised 1:1:1 to either standard silicone (comparator), antibiotic-impregnated, or silver-impregnated VPS. The primary outcome measure is time to VPS infection. Secondary outcome measures include time to VPS failure of any cause, reason for VPS failure (infection, mechanical failure, or patient failure), types of bacterial VPS infection (organism type and antibiotic resistance), and incremental cost per VPS failure averted.Discussion: The British antibiotic and silver-impregnated catheters for ventriculoperitoneal shunts multi-centre randomised controlled trial (the BASICS trial) is the first multi-centre RCT designed to determine whether antibiotic or silver-impregnated VPS reduce early shunt infection compared to standard silicone VPS. The results of this study will be used to inform current neurosurgical practice and may potentially benefit patients undergoing shunt surgery in the future.Trial registration: International Standard Randomised Controlled Trial Number: ISRCTN49474281. © 2014 Jenkinson et al.; licensee BioMed Central Ltd.

Bowl M.R.,University of Oxford | Mirczuk S.M.,University of Oxford | Grigorieva I.V.,University of Oxford | Piret S.E.,University of Oxford | And 14 more authors.
Human Molecular Genetics | Year: 2010

GCMB is a member of the small transcription factor family GCM (glial cells missing), which are important regulators of development, present in vertebrates and some invertebrates. In man, GCMB encodes a 506 amino acid parathyroid gland-specific protein, mutations of which have been reported to cause both autosomal dominant and autosomal recessive hypoparathyroidism. We ascertained 18 affected individuals from 12 families with autosomal recessive hypoparathyroidism and have investigated them for GCMB abnormalities. Four different homozygous germline mutations were identified in eight families that originate from the Indian Subcontinent. These consisted of a novel nonsense mutation R39X; a missense mutation, R47L in two families; a novel missense mutation, R110W; and a novel frameshifting deletion, I298fsX307 in four families. Haplotype analysis, using polymorphic microsatellites from chromosome 6p23-24, revealed that R47L and I298fsX307 mutations arose either as ancient founders, or recurrent de novo mutations. Functional studies including: subcellular localization studies, EMSAs and luciferase-reporter assays, were undertaken and these demonstrated that: the R39X mutant failed to localize to the nucleus; the R47L and R110W mutants both lost DNA-binding ability; and the I298fsX307 mutant had reduced transactivational ability. In order to gain further insights, we undertook 3D-modeling of the GCMB DNA-binding domain, which revealed that the R110 residue is likely important for the structural integrity of helix 2, which forms part of the GCMB/DNA binding interface. Thus, our results, which expand the spectrum of hypoparathyroidism-associated GCMB mutations, help elucidate the molecular mechanisms underlying DNA-binding and transactivation that are required for this parathyroid-specific transcription factor. © The Author 2010. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org.

Bullock P.,Kings College | Dunaway D.,Great Ormond Street Childrens Hospital | McGurk L.,Northumbria University | Richards R.,Cavendish Imaging
International Journal of Oral and Maxillofacial Surgery | Year: 2013

This technical note demonstrates the benefits of preoperative planning, involving the use of rapid prototype models and rehearsal of the surgical procedure, using image-guided navigational surgery. Optimum reconstruction of large defects can be achieved with this technique. © 2013 International Association of Oral and Maxillofacial Surgeons.

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