Great Ormond Street

OBJECTIVE: Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort. METHODS: Modified Mercuri scoring of lower limb MRI in genetically characterised NM patients referred to the highly specialised service for congenital myopathies at Great Ormond Street Hospital. Findings were compared to clinical data and MRI patterns derived from collated published data. RESULTS: Twenty-seven patients with MRI were identified (8 NEB-NM, 13 ACTA1-NM, 6 TPM3-NM)...

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BACKGROUND: EEG-fMRI is a useful additional test to localize the epileptogenic zone (EZ) particularly in MRI negative cases. However subject motion presents a particular challenge owing to its large effects on both MRI and EEG signal. Traditionally it is assumed that prospective motion correction (PMC) of fMRI precludes EEG artifact correction. METHODS: Children undergoing presurgical assessment at Great Ormond Street Hospital were included into the study. PMC of fMRI was done using a commercial system with a Moiré Phase Tracking marker and MR-compatible camera...

Inborn errors of thymic stromal cell development and function which are associated with congenital athymia result in life-threatening immunodeficiency with susceptibility to infections and autoimmunity. Athymic patients can be treated by thymus transplantation using cultured donor thymus tissue. Outcomes in patients treated at Duke University Medical Center and Great Ormond Street Hospital (GOSH) over the past three decades have shown that sufficient T-cell immunity can be recovered to clear and prevent infections, but post-treatment autoimmune manifestations are relatively common...

BACKGROUND: The UK Government has a policy focus on the early years (children younger than 5 years old) as a timepoint to intervene and improve child health. However, implementation of interventions that reduce child health inequalities has not always been successful. One challenge lies in identifying appropriate target populations, which requires a better understanding of how disadvantage is used and measured in practice. We aimed to conceptualise disadvantage measured in child health literature and explore the associations between disadvantage and child health using these measures...

INTRODUCTION: Crouzon syndrome is characterised by complex craniosynostosis and midfacial hypoplasia. Where frontofacial monobloc advancement (FFMBA) is indicated, the method of distraction used to achieve advancement holds an element of equipoise. This two-centre retrospective cohort study quantifies the movements produced by internal or external distraction methods used for FFMBA. Using shape analysis, this study evaluates if the different distraction forces cause plastic deformity of the frontofacial segment, producing distinct morphological outcomes...

PURPOSE: To evaluate the role of visual electrodiagnostic testing in children with neurofibromatosis type 1 (NF1) despite improved accessibility to magnetic resonance imaging (MRI). METHODS: The records from 39 children (78 eyes, 15 boys, 24 girls, average age at last visit of 11.5 ± 4.3 years, average follow-up time of 7.8 ± 3.9 years) with genetically confirmed NF1 were retrospectively analysed. They all underwent a thorough ophthalmological investigation, including age-appropriate visual acuity testing, anterior segment evaluation for Lisch nodules and a dilated fundus examination...

OBJECTIVE: To identify clinical features that could distinguish children presenting with autistic-like features and a history of severe early maltreatment from children with idiopathic autism spectrum disorders (ASDs). DESIGN: Matched-comparison study. SETTING: Great Ormond Street Hospital, UK. PARTICIPANTS: 46 children with a history of early maltreatment, mean (SD) age 10.6 (3.3) years and 47 children with an ASD, mean (SD) age 10...

Submucous cleft palate (SMCP) is an uncommon subtype of cleft palate that is associated with symptoms of velopharyngeal insufficiency (VPI), the most common being hypernasal speech. A high proportion of patients also suffer from conductive hearing loss, which is thought to be due to eustachian tube dysfunction. A number of surgical techniques have been proposed to correct the anatomical defect that is responsible for VPI. This exploratory study aims to describe surgical techniques and clinical outcomes in a series of patients who underwent surgical repair of SMCP at a single regional specialist cleft centre between 1999 and 2018...

Virtual reality has been incorporated into clinical practice for planning complex congenital cardiac operations at the Great Ormond Street Hospital for Children since 2018 [1]. Virtual reality allows for 3-dimensional exploration of patient-specific models, created through the segmentation of 3-dimensional imaging data sets. Along with 3-dimensional printed models and 3-dimensional PDFs, this technology has enabled a new approach in planning and reviewing surgical interventions. It is particularly important in intracardiac repairs involving ventricular septal defects [2] and double outlet right ventricle cases presenting with various phenotypes of interventricular communication [3,4]...

BACKGROUND AND OBJECTIVES: A group AB D-positive child presented 1 year after haematopoietic stem cell transplant (HSCT) from a group O D-negative donor as group A D-negative. Engraftment remained at 100% in white cell lineages. The reason for the unusual result was explored, and the scarcely reported phenomenon of adsorption of secreted antigen was considered. This study also investigated the prevalence of secreted antigen adsorbed onto donor-derived group O red blood cells (RBCs) in children after HSCT and defined a process for laboratory management...

BACKGROUND: The UK Government has a policy focus on the early years (children younger than 5 years old) as a timepoint to intervene and improve child health. However, implementation of interventions that reduce child health inequalities has not always been successful. One challenge lies in identifying appropriate target populations, which requires a better understanding of how disadvantage is used and measured in practice. We aimed to conceptualise disadvantage measured in child health literature and explore the associations between disadvantage and child health using these measures...

BACKGROUND: The UK Government has a policy focus on the early years (children younger than 5 years old) as a timepoint to intervene and improve child health. However, implementation of interventions that reduce child health inequalities has not always been successful. One challenge lies in identifying appropriate target populations, which requires a better understanding of how disadvantage is used and measured in practice. We aimed to conceptualise disadvantage measured in child health literature and explore the associations between disadvantage and child health using these measures...

BACKGROUND: Lennox Gastaut Syndrome (LGS) is an epilepsy syndrome presenting in childhood, classically characterised by a triad of cognitive or developmental impairment, multiple seizure types and EEG features of slow-spike waves (SWW), with or without paroxysmal fast activity (PFA) in sleep. There is increasing scientific opinion in favour of a less rigid approach to LGS diagnosis and this clinical audit attempts to shed light on how the LGS diagnostic criteria used may have changed over time, in a large tertiary paediatric neurology unit (Great Ormond Street Hospital (GOSH), London, UK)...

BACKGROUND: The majority of those infected by ancestral Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) during the UK first wave (starting March 2020) did not require hospitalisation. Most had a short-lived mild or asymptomatic infection, while others had symptoms that persisted for weeks or months. We hypothesized that the plasma proteome at the time of first infection would reflect differences in the inflammatory response that linked to symptom severity and duration. METHODS: We performed a nested longitudinal case-control study and targeted analysis of the plasma proteome of 156 healthcare workers (HCW) with and without lab confirmed SARS-CoV-2 infection...

Professor Marc de Leval (16 April 1941-26 June 2022) was a pioneer in the field of congenital cardiothoracic surgery and former chair of the British Congenital Cardiac Association (https://www.bcca-uk.org/). Professor de Leval was appointed as a Consultant Cardiothoracic Surgeon at Great Ormond Street Hospital in 1974. Throughout his distinguished career at Great Ormond Street Hospital, he worked with dedication to improve outcomes for cardiothoracic surgery. His contribution to academic cardiothoracic surgery was significant and far-reaching with over 300 peer-reviewed publications...

To assess the global research landscape in the field of Posterior urethral valve (PUV), a scientometric study was conducted to determine the quantity and quality of the research output and get insight into the key research areas and pattern of collaboration in the research community. METHODS: Primary data was acquired from the Scopus® database. Various parameters like the total research productivity, citations, citations per publication, citations per year, citations per publication per year, the scientific output of countries, institutions, authors, and journals were calculated...

BACKGROUND: Randomised controlled trials (RCTs) inform prescription guidelines, but stringent eligibility criteria exclude individuals with vulnerable characteristics, which we define as comorbidities, concomitant medication use, and vulnerabilities due to age. Poor external validity can result in inadequate treatment decision information. Our first aim was to quantify the extent of exclusion of individuals with vulnerable characteristics from RCTs for all prescription drugs. Our second aim was to quantify the prevalence of individuals with vulnerable characteristics from population electronic health records who are actively prescribed such drugs...

This manuscript is a personal tribute to Professor Marc de Leval from two of his colleagues: Professor Martin J. Elliott and Professor John E. Deanfield. As stated by the authors: "Marc's career history is presented in the accompanying eulogy from the current Heart & Lung Team at Great Ormond Street Hospital (GOSH), allowing us to highlight Marc's personal qualities that made him such an inspirational colleague. … Marc was, as we have said, the cardiologist's surgeon. He was also the surgeon's cardiologist, bridging the two disciplines and fusing the team...

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an inherited autosomal dominant heart disease, characterized by increased left ventricular wall thickness and abnormal loading conditions. Imaging modalities are the first choice for diagnosis and risk stratification. Although heart dimensions have been characterized widely in HCM adults from cardiac imaging, there is limited information about children affected by HCM. The aim of this study is to evaluate left ventricular function and left heart dimensions in a small population of children diagnosed with HCM...