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https://www.readbyqxmd.com/read/29184379/neurotransmitters-and-sodium-channelopathies-possible-link
#1
COMMENT
Michael F Hammer, Alejandra D C Encinas
Investigators from the University of British Columbia, Great Ormond Street Hospital for Children, and the National Hospital reported their findings on neurotransmitter deficiencies in two patients with mutations in voltage-gated sodium genes (SCN2A and SCN8A) discovered by whole exome sequencing.
November 2017: Pediatric Neurology Briefs
https://www.readbyqxmd.com/read/29178251/seizure-and-cognitive-outcomes-after-resection-of-glioneuronal-tumors-in-children
#2
Andrew M Faramand, Nicola Barnes, Sue Harrison, Roxanna Gunny, Tom Jacques, Zubair M Tahir, Sophia M Varadkar, Helen J Cross, William Harkness, Martin M Tisdall
OBJECTIVE: Glioneuronal tumors (GNTs) are well-recognized causes of chronic drug-resistant focal epilepsy in children. Our practice involves an initial period of radiological surveillance and antiepileptic medications, with surgery being reserved for those with radiological progression or refractory seizures. We planned to analyze the group of patients with low-grade GNTs, aiming to identify factors affecting seizure and cognitive outcomes. METHODS: We retrospectively reviewed the medical records of 150 children presenting to Great Ormond Street Hospital with seizures secondary to GNTs...
November 26, 2017: Epilepsia
https://www.readbyqxmd.com/read/29148123/donohue-syndrome-a-review-of-literature-case-series-and-anesthetic-considerations
#3
REVIEW
Alana Kirkwood, Grant Stuart, Louise Harding
BACKGROUND: Donohue syndrome is a rare autosomal recessive disorder of insulin resistance, causing a functional defect in insulin receptor function, and affecting the ability of the insulin to bind the receptor. Features include severe hyperinsulinism and fasting hypoglycemia, along with severe failure to thrive despite feeding. An accelerated fasting state results in muscle wasting, decreased subcutaneous fat, and an excess of thick skin. A reduced thoracic diameter is accentuated by increased abdominal distension, which impacts on respiratory reserve...
November 17, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29106578/cancer-risk-in-children-born-after-donor-art
#4
C L Williams, K J Bunch, M F G Murphy, C A Stiller, B J Botting, W H Wallace, M C Davies, A G Sutcliffe
STUDY QUESTION: Do children born after donor ART have an increased risk of developing childhood cancer in comparison to the general population? SUMMARY ANSWER: This study showed no overall increased risk of childhood cancer in individuals born after donor ART. WHAT IS KNOWN ALREADY: Most large population-based studies have shown no increase in overall childhood cancer incidence after non-donor ART; however, other studies have suggested small increased risks in specific cancer types, including haematological cancers...
November 2, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29058318/seizure-outcome-after-corpus-callosotomy-in-a-large-paediatric-series
#5
David Graham, Deepak Gill, Russell C Dale, Martin M Tisdall
AIM: To describe 20 years of experience with corpus callosotomy at Great Ormond Street Hospital for Children, London and the Children's Hospital at Westmead, Sydney. METHOD: Records of patients who underwent corpus callosotomy between January 1995 and December 2015 were reviewed. Complications of surgery and changes in seizure type and frequency, injuries, and use of antiepileptic drugs were recorded. Drop attacks were analysed using Kaplan-Meier event-free survival curves...
October 23, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29046100/analysis-of-intensive-care-admissions-among-paediatric-obstructive-sleep-apnoea-referrals
#6
S D Sharma, S Gupta, M Wyatt, D Albert, B Hartley
Introduction The aim of this study was to identify the proportion of children referred to a paediatric tertiary referral centre who required admission to the paediatric intensive care unit (PICU) following surgery for obstructive sleep apnoea (OSA) and to establish risk factors for these admissions. Methods Retrospective review of case notes and the operative database was performed for all children undergoing adenotonsillectomy for sleep disordered breathing and OSA symptoms in Great Ormond Street Hospital over a 10-year period...
October 19, 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/28940349/charlie-gard-and-the-limits-of-parental-authority
#7
Arthur Caplan, Kelly McBride Folkers
The parents of Charlie Gard, who was born August 4, 2016, with an exceedingly rare and incurable disease called mitochondrial DNA depletion syndrome, fought a prolonged and heated legal battle to allow him access to experimental treatment that they hoped would prolong his life and to prevent his doctors from withdrawing life-sustaining care. Charlie's clinicians at the Great Ormond Street Hospital in London believed that the brain damage Charlie had suffered as a result of frequent epileptic seizures, along with many other severe disabilities, would render any innovative therapy futile, and they disagreed with his parents' wishes to use an experimental therapy...
September 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28937148/transition-from-paediatric-to-adult-ophthalmology-services-what-matters-most-to-young-people-with-visual-impairment
#8
A O Robertson, V Tadić, J S Rahi
PurposeTo identify the views and experiences and thus the transition-related needs of young people with visual impairment (VI), so as to inform future practice and policies.Patients and methodsQualitative study of 17 young people aged 16-19 years (ie the conventional transition age threshold) with VI (best-corrected acuity logMAR worse than 0.48) and without additional impairments, drawn from a sampling frame of paediatric ophthalmology patients attending Great Ormond Street Hospital and Moorfields Eye Hospital (London, UK)...
September 22, 2017: Eye
https://www.readbyqxmd.com/read/28841110/assessment-of-spring-cranioplasty-biomechanics-in-sagittal-craniosynostosis-patients
#9
Alessandro Borghi, Silvia Schievano, Naiara Rodriguez Florez, Roisin McNicholas, Will Rodgers, Allan Ponniah, Greg James, Richard Hayward, David Dunaway, N U Owase Jeelani
OBJECTIVE Scaphocephaly secondary to sagittal craniosynostosis has been treated in recent years with spring-assisted cranioplasty, an innovative approach that leverages the use of metallic spring distractors to reshape the patient skull. In this study, a population of patients who had undergone spring cranioplasty for the correction of scaphocephaly at the Great Ormond Street Hospital for Children was retrospectively analyzed to systematically assess spring biomechanical performance and kinematics in relation to spring model, patient age, and outcomes over time...
November 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28802393/paediatric-injection-medialisation-laryngoplasty-recent-great-ormond-street-hospital-experience
#10
K A Stephenson, L Cavalli, A Lambert, J Fleming, E Lawes, S Gupta, C G Jephson, L A Cochrane
INTRODUCTION: Unilateral vocal fold paresis may significantly impair the vocal quality and laryngeal competence of a child. Relatively little literature relates to injection medialisation laryngoplasty (IML) in children and previous reports have involved small numbers of heterogenous cases. METHODS: A retrospective review was conducted of paediatric patients managed by our multidisciplinary specialist voice clinic undergoing IML for unilateral vocal fold paresis...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28753091/neuroendoscopic-surgery-in-children-does-age-at-intervention-influence-safety-and-efficacy-a-single-center-experience
#11
Amy L Bowes, Josh King-Robson, William J Dawes, Greg James, Kristian Aquilina
OBJECTIVE The aim of this study was to review the safety of pediatric intraventricular endoscopy across separate age groups and to determine whether intraventricular endoscopy is associated with an increased risk of complications or reduced efficacy in infants younger than 1 year. METHODS In this retrospective cohort study, 286 pediatric patients younger than 17 years underwent intraventricular endoscopy at Great Ormond Street Hospital between December 2005 and December 2014. The primary diagnosis, procedure, and complications were recorded...
October 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28674611/reducing-the-number-of-unnecessary-liver-function-tests-requested-on-the-paediatric-intensive-care-unit
#12
Lynn Sinitsky, Joe Brierley
Between January and October 2014, Great Ormond Street Hospital Paediatric Intensive Care Unit (PICU) was spending an average £23,392 on blood tests per month. Blood tests should be requested based on previous results and the patient's clinical condition, medication and nutritional status. However, more blood tests were being ordered than clinically indicated: an audit in October 2014 showed liver function tests (LFTs) were requested daily on most patients, even with previous normal results. A driver diagram identified three primary drivers for blood test requesting: decision-making, situational awareness and computer-based ordering...
2017: BMJ Quality Improvement Reports
https://www.readbyqxmd.com/read/28662944/skeletal-muscle-channelopathies-rare-disorders-with-common-pediatric-symptoms
#13
Emma Matthews, Arpana Silwal, Richa Sud, Michael G Hanna, Adnan Y Manzur, Francesco Muntoni, Pinki Munot
OBJECTIVE: To ascertain the presenting symptoms of children with skeletal muscle channelopathies to promote early diagnosis and treatment. STUDY DESIGN: Retrospective case review of 38 children with a skeletal muscle channelopathy attending the specialist pediatric neuromuscular service at Great Ormond Street Hospital over a 15-year period. RESULTS: Gait disorder and leg cramps are a frequent presentation of myotonic disorders (19 of 29). Strabismus or extraocular myotonia (9 of 19) and respiratory and/or bulbar symptoms (11 of 19) are common among those with sodium channelopathy...
September 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28584070/the-natural-history-of-prenatally-diagnosed-congenital-cystic-lung-lesions-long-term-follow-up-of-119-cases
#14
James Cook, Lyn S Chitty, Paolo De Coppi, Michael Ashworth, Colin Wallis
BACKGROUND: A paucity of evidence regarding the natural history of congenital pulmonary airway malformations (CPAMs) and pulmonary sequestration (PS) has resulted in a divergence in management strategy of asymptomatic cases. METHODS: We describe the long-term clinical course of 119 children diagnosed with these lesions treated at Great Ormond Street Hospital (GOSH). Cases were identified via the GOSH patient database. Study entry required the identification of a cystic lung lesion on prenatal ultrasound and confirmation of CPAM/PS on postnatal CT imaging...
September 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28550406/statistical-shape-modelling-to-aid-surgical-planning-associations-between-surgical-parameters-and-head-shapes-following-spring-assisted-cranioplasty
#15
Naiara Rodriguez-Florez, Jan L Bruse, Alessandro Borghi, Herman Vercruysse, Juling Ong, Greg James, Xavier Pennec, David J Dunaway, N U Owase Jeelani, Silvia Schievano
PURPOSE: Spring-assisted cranioplasty is performed to correct the long and narrow head shape of children with sagittal synostosis. Such corrective surgery involves osteotomies and the placement of spring-like distractors, which gradually expand to widen the skull until removal about 4 months later. Due to its dynamic nature, associations between surgical parameters and post-operative 3D head shape features are difficult to comprehend. The current study aimed at applying population-based statistical shape modelling to gain insight into how the choice of surgical parameters such as craniotomy size and spring positioning affects post-surgical head shape...
May 26, 2017: International Journal of Computer Assisted Radiology and Surgery
https://www.readbyqxmd.com/read/28545823/novel-molecular-subgroups-for-clinical-classification-and-outcome-prediction-in-childhood-medulloblastoma-a-cohort-study
#16
Edward C Schwalbe, Janet C Lindsey, Sirintra Nakjang, Stephen Crosier, Amanda J Smith, Debbie Hicks, Gholamreza Rafiee, Rebecca M Hill, Alice Iliasova, Thomas Stone, Barry Pizer, Antony Michalski, Abhijit Joshi, Stephen B Wharton, Thomas S Jacques, Simon Bailey, Daniel Williamson, Steven C Clifford
BACKGROUND: International consensus recognises four medulloblastoma molecular subgroups: WNT (MBWNT), SHH (MBSHH), group 3 (MBGrp3), and group 4 (MBGrp4), each defined by their characteristic genome-wide transcriptomic and DNA methylomic profiles. These subgroups have distinct clinicopathological and molecular features, and underpin current disease subclassification and initial subgroup-directed therapies that are underway in clinical trials. However, substantial biological heterogeneity and differences in survival are apparent within each subgroup, which remain to be resolved...
July 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28513387/-i-wanted-to-be-a-blue-peter-presenter
#17
(no author information available yet)
Ruth Butler qualified as a registered general nurse and registered sick children's nurse in the 1980s, working at London's Great Ormond Street Hospital for Children NHS Trust. Last year, she was crowned winner of the child health award at the RCNi Nurse Awards, and has been in her current role as research associate at Central London Community Healthcare NHS Trust since October 2016.
May 17, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28422603/factors-responsible-for-unfavorable-dental-arch-relationship-in-non-syndromic-unilateral-cleft-lip-and-palate-children
#18
Sanjida Haque, Mohammad Khursheed Alam, Mohd Fadhli Khamis
OBJECTIVES: Multiple factors are whispered to be crucial cause of unfavourable dental arch relationship in cleft lip and palate (CLP).This study aims to evaluate the dental arch relationship of Bangladeshi children with non syndromic unilateral cleft lip and palate (UCLP) following cheiloplasty and palatoplasty. Also to explore the various congenital (UCLP type, UCLP side, family history of cleft, family history of class III) and environmental (cheiloplasty, palatoplasty) factors that affects dental arch relationship of UCLP patients...
2017: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28398897/book-reviews-great-ormond-street-handbook-of-paediatrics-2nd-edn-edited-by-stephan-strobel-lewis-spitz-stephen-d-marks-crc-press-2016-price-%C3%A2-63-99-pp-736-isbn-9781482222791-stroke-medicine-2nd-edn-hugh-markus-anthony-pereira-geoffrey-cloud-oxford-university
#19
https://www.readbyqxmd.com/read/28176567/-don-t-be-afraid-to-ask-questions
#20
(no author information available yet)
Katie De Freitas started her midwifery career in 2008 after graduating from City University in London. She has worked in clinical and project roles, and in October 2013 won a Mary Seacole Award for her project to develop midwives' cultural competency. She has been in her current role as quality improvement lead at Great Ormond Street Hospital for Children since March 2015.
February 8, 2017: Nursing Standard
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