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"Great Ormond Street"

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In the majority of stillbirth cases the cause remains unknown despite a full post-mortem, say researchers from Great Ormond Street Hospital (GOSH) in London.
November 16, 2016: Nursing Standard
J Man, J C Hutchinson, M Ashworth, A E Heazell, I Jeffrey, N J Sebire
OBJECTIVES: Of 780 000 births annually in the UK, around 3300 are stillborn, a rate of approximately 4 per 1000 births. Traditional epidemiological associations are based on historic data. The aim of this study was to document contemporary demographic findings in a large series of > 1000 deaths in utero in London and compare these with national datasets. METHODS: From a dedicated database, including > 400 data fields per case, of fetal, infant and pediatric autopsies performed at Great Ormond Street Hospital and St George's Hospital, London, we extracted information on all intrauterine deaths, excluding terminations of pregnancy, from 2005 to 2013, inclusive...
October 25, 2016: Ultrasound in Obstetrics & Gynecology
J Man, J C Hutchinson, M Ashworth, A E Heazell, S Levine, N J Sebire
OBJECTIVE: According to the classification system used, 15-60% of stillbirths remain unexplained, despite undergoing recommended autopsy examination, with variable attribution of fetal growth restriction (FGR) as a cause of death. Distinguishing small-for-gestational age (SGA) from pathological FGR is a challenge at postmortem examination. This study uses data from a large, well-characterized series of intrauterine death autopsies to investigate the effects of secondary changes such as fetal maceration, intrauterine retention and postmortem interval on body weight...
October 25, 2016: Ultrasound in Obstetrics & Gynecology
N Karsan, P Prabhakar, P J Goadsby
BACKGROUND: The premonitory stage of migraine attacks, when symptomatology outside of pain can manifest hours to days before the onset of the headache, is well recognised. Such symptoms have been reported in adults in a number of studies, and have value in predicting an impending headache. These symptoms have not been extensively studied in children. We aimed to characterise which, if any, of these symptoms are reported in children seen within a Specialist Headache Service. METHODS: We reviewed clinic letters from the initial consultation of children and adolescents seen within the Specialist Headache Service at Great Ormond Street Hospital between 1999 and 2015 with migraine in whom we had prospectively assessed clinical phenotype data...
December 2016: Journal of Headache and Pain
Agnes Trautmann, Derek J Roebuck, Clare A McLaren, Eileen Brennan, Stephen D Marks, Kjell Tullus
OBJECTIVES: Renovascular disease (RVD) is found in about 10 % of secondary childhood hypertension. Digital subtraction angiography (DSA) is the gold standard to diagnose RVD. Non-invasive imaging methods like Doppler ultrasound (US), magnetic resonance angiography (MRA), and computed tomography angiography (CTA) are increasingly used. Our aim was to evaluate the role and accuracy of US, MRA, and CTA compared to DSA in diagnosing RVD in children. PATIENTS AND METHODS: A retrospective review of 127 children with suspected renovascular hypertension was performed in children referred to Great Ormond Street Hospital between 2006 and 2014 due to clinical suspicion of renovascular hypertension and/or findings on US and/or MRA or CTA...
October 17, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Michal Novotný, Jan Rusz, Roman Čmejla, Hana Růžičková, Jiří Klempíř, Evžen Růžička
BACKGROUND: Although increased nasality can originate from basal ganglia dysfunction, data regarding hypernasality in Parkinson's disease (PD) and Huntington's disease (HD) are very sparse. The aim of the current study was to analyze acoustic and perceptual correlates of velopharyngeal seal closure in 37 PD and 37 HD participants in comparison to 37 healthy control speakers. METHODS: Acoustical analysis was based on sustained phonation of the vowel /i/ and perceptual analysis was based on monologue...
2016: PeerJ
Andy Fox, Rodney Gilbert
AIM: We report the effective use of the synthetic parathyroid hormone (PTH) teriparatide to treat a 4 year old boy with autosomal dominant hypocalcaemia. BACKGROUND: Autosomal Dominant hypocalcaemia is characterised by hypocalcaemia with a lack of parathyroid hormone (PTH) response and inappropriately high urinary calcium excretion. It is caused by gain-of-function mutations in the extracellular calcium sensing receptor which then "over-reads" the extracellular fluid concentration of calcium resulting in suppression of PTH secretion...
September 2016: Archives of Disease in Childhood
M Al-Obaidi, D Saunders, S Brown, L Ramsden, N Martin, E Moraitis, C A Pilkington, P A Brogan, D Eleftheriou
The aim of this study was to describe the abnormalities identified with conventional MRI in children with neuropsychiatric systemic lupus erythematosus (NPSLE). This was single-centre (Great Ormond Street Hospital, London) retrospective case series of patients with juvenile NPSLE seen in 2003-2013. Brain MR images of the first episode of active NPSLE were reviewed. All patients fulfilled the 1999 ACR case definitions for NPSLE syndromes. Presenting neuropsychiatric manifestations, immunological findings and treatment are reported...
October 2016: Clinical Rheumatology
Catherine Peters, Ivan Brooke, Simon Heales, Adeboye Ifederu, Shirley Langham, Peter Hindmarsh, Tim J Cole
CONTEXT: There is variability in the congenital hypothyroidism (CH) newborn screening TSH cutoff across the United Kingdom. OBJECTIVE: To determine the influences of year, gender, and ethnicity on screening variability and examine whether there is an optimal operational TSH cutoff. DESIGN AND SETTING: Single center, retrospective population study using blood spot TSH cards received by the Great Ormond Street Hospital Screening Laboratory between 2006 and 2012...
September 2016: Journal of Clinical Endocrinology and Metabolism
Yazeed Almuhizi, Anette Leser, Marie Pegelow
BACKGROUND: The Great Ormond Street, London and Oslo, Norway (GOSLON) yardstick and the modified Huddart and Bodenham (MHB) index are two indices for evaluating study models to discern the effects of treatment in individuals born with unilateral cleft lip and palate (UCLP). GOSLON is a tool for ranking study models based on their sagittal, vertical, and transversal planes that requires calibration of the examiners. MHB is a tool for scoring the arch constriction between the jaws for each tooth pair, with scores ranging from +1 to -3...
August 2016: European Journal of Orthodontics
Daniel A Morgenstern, Gulrukh Ahsan, Margaret Brocklesby, Stuart Ings, Carmen Balsa, Paul Veys, Penelope Brock, John Anderson, Persis Amrolia, Nicholas Goulden, Catherine M Cale, Michael J Watts
Standard quality assurance (QA) of cryopreserved peripheral blood stem cells (PBSC) uses post-thaw viable CD34(+) cell counts. In 2013, concerns arose at Great Ormond Street Hospital (GOSH) about 8 patients with delayed engraftment following myeloablative chemotherapy with cryopreserved cell rescue, despite adequate post-thaw viable cell counts in all cases. Root cause analysis was undertaken; investigations suggested the freeze process itself was a contributing factor to suboptimal engraftment. Experiments were undertaken in which a single PBSC product was divided into three and cryopreserved in parallel using a control-rate freezer (CRF) or passive freezing method (-80°C freezer) at GOSH, or the same passive freezing at another laboratory...
September 2016: British Journal of Haematology
Sira Nanthapisal, Claire Murphy, Ebun Omoyinmi, Ying Hong, Ariane Standing, Stefan Berg, Maria Ekelund, Stephen Jolles, Lorraine Harper, Taryn Youngstein, Kimberly Gilmour, Nigel J Klein, Despina Eleftheriou, Paul A Brogan
OBJECTIVE: To describe the clinical features, genotype, and treatment in a series of subjects with confirmed adenosine deaminase 2 (ADA2) deficiency. METHODS: All symptomatic subjects were referred for genetic testing for suspected ADA2 deficiency; relatives of index cases were also screened. Demographic, clinical, and laboratory characteristics and treatments were recorded. Genetic analyses included whole-exome sequencing in 4 subjects and Sanger sequencing of CECR1 (the gene for cat eye syndrome chromosome region candidate 1) in all subjects...
September 2016: Arthritis & Rheumatology
Despina Eleftheriou, Hugo Gale, Clarissa Pilkington, Matthew Fenton, Neil J Sebire, Paul A Brogan
OBJECTIVE: To describe the presenting clinical features, treatment and outcome in children with eosinophilic granulomatosis with polyangiitis (EGPA) and to define factors that predicted mortality. METHODS: A retrospective case notes review of patients fulfilling the Chapel Hill Consensus Conference definition and/or ACR criteria for EGPA seen at Great Ormond Street Hospital, London. Demographics, clinical features, histopathology, treatment and outcomes were recorded...
July 2016: Rheumatology
Valerija Tadić, Andrew Cooper, Phillippa Cumberland, Gillian Lewando-Hundt, Jugnoo S Rahi
PURPOSE: To report piloting and initial validation of the VQoL_CYP, a novel age-appropriate vision-related quality of life (VQoL) instrument for self-reporting by children with visual impairment (VI). METHODS: Participants were a random patient sample of children with VI aged 10-15 years. 69 patients, drawn from patient databases at Great Ormond Street Hospital and Moorfields Eye Hospital, United Kingdom, participated in piloting of the draft 47-item VQoL instrument, which enabled preliminary item reduction...
2016: PloS One
A Medsinge, E Gajdosova, W Moore, K K Nischal
PURPOSE: To assess the outcome of early therapeutic penetrating keratoplasty (PKP) for corneal melt leading to perforation in children. METHODS: Case notes of all the consecutive patients presenting with acute corneal perforation that underwent urgent therapeutic PKP between 2000 and 2010 to the practice of one of the authors, both NHS at Great Ormond Street Hospital for Children and private, were retrospectively reviewed. Onset of perforation, underlying cause, medical and surgical treatment, pre- and post-operative visual acuity, graft clarity, length of follow-up, and post-operative complications were recorded...
April 2016: Eye
Victoria Rebecca Carol Alexander, Joseph George Manjaly, Christopher M Pepper, Sonna N Ifeacho, Richard J Hewitt, Benjamin E J Hartley
OBJECTIVE: Head and neck teratomas are rare and malignant change is rarer still. This is a report detailing all of the teratomas treated by the ear, nose and throat or craniofacial teams over the last 28 years at our institution. Examining the common presenting and radiological features as well as our success rates compared to the current literature. METHOD: A retrospective review of all cases presenting to our institution with a head and neck teratoma were analysed...
December 2015: International Journal of Pediatric Otorhinolaryngology
Lisa Kirwan
THE PAST 10 months have been eventful to say the least. I went straight from finishing my nursing internship to volunteering in a hospice for abandoned children in China. On my return I moved from Ireland to London and started my first job as a staff nurse in the paediatric intensive care unit (PICU) at Great Ormond Street Hospital.
November 2015: Nursing Children and Young People
Ying Hong, Despina Eleftheriou, Nigel J Klein, Paul A Brogan
INTRODUCTION: Previously, we demonstrated that children with active systemic vasculitis (SV) have higher circulating CD34 + CD133 + KDR+ endothelial progenitor cells (EPC); the function of these EPCs, and their relationship with disease activity in vasculitis remains largely unexplored. We hypothesized that although EPC numbers are higher, EPC function is impaired in active SV of the young. The aims of this study were therefore to: 1. investigate the relationship between disease activity and EPC function in children with SV; and 2...
October 16, 2015: Arthritis Research & Therapy
Anna Rybak, Carlos Tutau Gomez, Keith Lindley, Nikhil Thapar, Mohamed Mutalib
INTRODUCTION AND AIM: Diagnosis of aerophagia is based on clinical symptoms and described in Rome III Criteria. The aim of this study was to estimate the normal and pathological values for air swallows measured with pH-impedance in children. MATERIAL AND METHODS: We analysed features of air swallowing in pH-impedance for patients hospitalized in the Great Ormond Street Hospital in 2008-2014, with the clinical symptoms of aerophagia, who have met the Rome III Criteria...
October 2015: Journal of Pediatric Gastroenterology and Nutrition
Dr L Meran, Dr V Li, Professor P De Coppi
INTRODUCTION: Irreversible intestinal failure (IF) due to anatomical or functional loss is a devastating condition is associated with significant morbidity and mortality. Patients referred for intestinal transplantation suffer low survival rates due to the high graft-rejection rate and sepsis as a consequence long-term immunosuppression. These clinical challenges reveal an urgent need for research into new treatments for IF. Here, we present recent advances in our work on intestinal tissue engineering...
October 2015: Journal of Pediatric Gastroenterology and Nutrition
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