3,422 results match your criteria: "UCL-Great Ormond Street-Institute of Child Health[Affiliation]"

Participants in the 100,000 Genomes Project (100kGP) could consent to receive additional finding (AF) results, individual variants relating to genes associated with susceptibility to cancer and familial hypercholesterolemia (FH). In the study reported here, qualitative interviews were used to explore the experiences of National Health Service (NHS) professionals from across England who were tasked with returning over 80,000 "no AF" results and 700 positive AF results to 100kGP participants. Interviews were conducted with 45 professionals from a range of backgrounds, including Genetic Counsellors, Clinical Geneticists, FH Clinical Nurse Specialists and Clinical Scientists.

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• For children with growth deficiency, once-weekly injections were less of a burden than once-daily injections. • The safety of weekly was similar to that of daily . • Compared with daily injections, children with growth deficiency may be less likely to miss weekly injections.

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Targeting DLK1 in neuroblastoma.

Cancer Cell

November 2024

UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK. Electronic address:

An ideal cell surface target has ubiquitously high cancer expression, absence from healthy tissues, and an essential role cancer initiation and/or maintenance. In this issue of Cancer Cell, Hamilton et al. combine proteomics, transcriptomics, epigenomics, and dependency databases to identify DLK1, a novel immunotherapeutic target for neuroblastoma.

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The Management of Internal Fistulizing Crohn's Disease in a Child: More Than Meets the Eye.

Gastroenterology

October 2024

Paediatric Gastroenterology, Great Ormand Street Hospital, London, United Kingdom; Juliet Keidan Institute of Pediatric Gastroenterology, The Eisenberg R&D Authority, Shaare Zedek Medical Center, The Hebrew University of Jerusalem, Jerusalem, Israel. Electronic address:

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Purpose: The STAT trial is a multicenter randomized controlled trial in 12 centers worldwide aiming to determine the most effective operation for neonates with necrotizing enterocolitis (NEC) requiring intestinal resection: stoma formation (ST) or primary anastomosis (PA).

Methods: Infants having a primary laparotomy for NEC were randomized intraoperatively to PA or ST if the operating surgeon thought that both were viable treatment options for that patient. The primary outcome (duration of parenteral nutrition [PN]) was evaluated by Cox regression.

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The Impact of Non-Fiscal Mandatory and Voluntary Policies and Interventions on the Reformulation of Food and Beverage Products: A Systematic Review.

Nutrients

October 2024

Population, Policy and Practice Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.

: Low quality diets are a risk factor for non-communicable diseases; therefore, improving diet quality is a public health and policy priority in the UK and elsewhere. Reformulating food/beverage products to make them healthier may be an effective approach. Evidence suggests that fiscal interventions, notably taxes/levies on soft drinks, can lead to reformulation but the evidence for voluntary or mandated non-fiscal interventions is less clear.

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A growing number of patients with Hirschsprung disease are reaching adulthood, of whom a significant minority will require ongoing input from healthcare providers. In order to ensure patients receive the best care possible, it is essential to transition patients appropriately to adult services. This article describes the unmet need and some of the obstacles to this process and explores potential solutions, drawing on model examples for transitional care.

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The adoption and implementation of local government planning policy to manage hot food takeaways near schools in England: A qualitative process evaluation.

Soc Sci Med

December 2024

London School of Hygiene & Tropical Medicine, Population Health Innovation Lab, Department of Public Health, Environments & Society, 15-17 Tavistock Place, London, WC1H 9SH, UK.

Introduction: Access to hot food takeaways, particularly near schools, is of growing concern for policymakers seeking to reduce childhood obesity globally. In England, United Kingdom (UK), local government jurisdictions are implementing planning policies to reduce access by restricting or denying planning permission for new takeaway outlets near schools. We used a qualitative approach to explore local government officers' perspectives on the barriers to and facilitators of the adoption, implementation, and perceived effectiveness of these policies.

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Article Synopsis
  • A survey was conducted among 32 senior clinicians across 20 European countries to understand current practices in postnatal prophylaxis (PNP) and infant feeding guidelines.
  • Twenty-three clinicians responded, revealing that all countries use risk stratification for PNP, but methods and regimens widely differ, with zidovudine being the most commonly used drug.
  • There is significant variation in guidelines regarding infant feeding for babies born to HIV-positive parents, highlighting the need for harmonization in policies to minimize HIV transmission and support informed feeding choices.
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AAV gene therapy for Duchenne Muscular Dystrophy: lessons learned from a phase 3 trial.

Gene Ther

November 2024

The Dubowitz Neuromuscular Centre, Developmental Neuroscience Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre & Great Ormond Street Hospital NHS Foundation Trust, 30 Guilford Street, London, UK.

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Evolution of radiology staff perspectives during artificial intelligence (AI) implementation for expedited lung cancer triage.

Clin Radiol

September 2024

Department of Clinical Radiology, Great Ormond Street Hospital for Children, London, WC1H 3JH, UK; UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital for Children, London, WC1N 1EH, UK; NIHR Great Ormond Street Hospital Biomedical Research Centre, 30 Guilford Street, Bloomsbury, London, WC1N 1EH, UK. Electronic address:

Article Synopsis
  • The study explores how radiology staff perceives an AI tool designed to expedite lung cancer detection in chest X-rays, surveying staff before and after its implementation.
  • Initial expectations of the AI being time-saving shifted post-implementation to focus on faster patient follow-ups and a recognition of benefits despite integration challenges.
  • Ongoing staff feedback and support are crucial for a smooth AI integration in clinical settings, fostering a positive adaptation towards its usage in patient care.
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Background: Malformations of cortical development (MCDs) in children with focal epilepsy pose significant diagnostic challenges, and a precise radiological diagnosis is crucial for surgical planning. New MRI sequences and the use of artificial intelligence (AI) algorithms are considered very promising in this regard, yet studies evaluating the relative contribution of each diagnostic technique are lacking.

Methods: The study was conducted using a dedicated "EPI-MCD MR protocol" with a 3 Tesla MRI scanner in patients with focal epilepsy and previously negative MRI.

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Resting-state networks in chronic tinnitus: Increased connectivity between thalamus and visual areas.

Hear Res

November 2024

Dean (Research) EPSW, College of Education, Psychology and Social Work, Flinders University, Bedford Park, GPO Box 2100, Adelaide 5001, South Australia. Electronic address:

Article Synopsis
  • * This current study examined eight resting-state networks in a group of tinnitus patients and a matched control group, focusing on functional connectivity, especially with the dorsolateral prefrontal cortex, which relates to tinnitus distress.
  • * Results indicated that tinnitus patients showed stronger connectivity between the thalamus and visual cortex, but no significant differences were found regarding the dorsolateral prefrontal cortex or the other resting-state networks, challenging earlier research findings.
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Non-animal models: Complexity for interactions…Connecting science.

ALTEX

January 2024

Università degli Studi di Milano, Department of Pharmaceutical Sciences (DISFARM), Section of Pharmaceutical Technology and Legislation "M.E. Sangalli", Milan, Italy.

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Article Synopsis
  • The study focuses on "positive epidemiology," highlighting how positive mental health can protect and promote adolescent health during the COVID-19 pandemic crisis.
  • Researchers analyzed data from several longitudinal studies in Australia and the UK to assess the impact of positive mental health on psychological distress, life satisfaction, and health behaviors among adolescents.
  • Results showed that positive mental health was linked to lower psychological distress and higher life satisfaction during the pandemic, but its effect on health behaviors like sleep and alcohol use was less significant.
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Decline in Isotope Dilution Space Ratio Above Age 60 Could Affect Energy Estimates Using the Doubly Labeled Water Method.

J Nutr

December 2024

Institute for Active Health, Kyoto University of Advanced Science, Kyoto, Japan; National Institute of Health and Nutrition, National Institutes of Biomedical Innovation, Health and Nutrition, Tokyo, Japan.

Article Synopsis
  • Doubly labeled water is the most reliable method for measuring total energy expenditure (TEE), but its accuracy can be affected by the isotope dilution space ratio (DSR).
  • This study explored factors like age, sex, ethnicity, body composition, and geographical elevation to see how they influence DSR, using various statistical analysis methods.
  • Results showed that while DSR decreased with age in individuals 60 and older, no significant effects were found from other variables, suggesting that previous estimates of TEE might be overestimating values for older individuals, especially those around 90 years old.
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Wilms tumour (WT) is one of the common and curable childhood cancer types included in the Global Initiative for Childhood Cancer (GICC) to monitor progress. Local evidence is key to finding effective and sustainable solutions to local challenges to improve care and survival. Local evidence generated by the Wilms Africa project is summarised with recommendations for the future.

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Article Synopsis
  • - Over 16 million children were born HIV-free despite exposure during pregnancy by 2022, but those who are HIV-free exhibit worse health and development outcomes, leading to the need for further research on their long-term effects compared to unexposed children.
  • - The SHINE trial in rural Zimbabwe tracked growth and cognitive development in children born HIV-free compared to unexposed children, evaluating participants at age 7 using a variety of assessments that included measurements of height, haemoglobin, cognitive abilities, and physical fitness.
  • - The study aimed to understand the differences in health outcomes between the two groups and utilized advanced statistical methods to analyze the collected data, considering various demographic and socioeconomic factors affecting the children's development.
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Article Synopsis
  • Spinal muscular atrophy (SMA) is a genetic disorder resulting from mutations in the SMN1 gene, with a study aiming to track changes in motor function over 4 years using the Hammersmith Functional Motor Scale Expanded (HFMSE).
  • The research involved analyzing data from multiple countries, focusing on factors like age, functional status, and the number of SMN2 gene copies in SMA types II and III.
  • Results showed SMA type II patients had a mean decline of -2.20 points, while type III experienced a -2.75 point decline over 4 years, with age and baseline scores being significant predictors of these changes, suggesting the need for detailed assessment in specific SMA subgroups.
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Patient-derived tau and amyloid-β facilitate long-term depression : role of tumour necrosis factor-α and the integrated stress response.

Brain Commun

September 2024

Department of Pharmacology & Therapeutics, School of Medicine, and Institute of Neuroscience, Trinity College, Dublin 2, Dublin, Ireland.

Article Synopsis
  • Alzheimer's disease is marked by cognitive decline due to the buildup of amyloid-β and tau proteins, which affect synaptic function and correlate with cognitive status.
  • The study investigates the effects of synaptotoxic tau and amyloid-β on long-term depression in the hippocampus using animal models and various sources of these proteins.
  • Results demonstrated that tau and amyloid-β from different origins similarly enhance long-term synaptic weakening, suggesting they both contribute to cognitive dysfunction in Alzheimer's disease.
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The role of ketogenic diets in the treatment of status epilepticus.

Epilepsy Behav

November 2024

UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK; Great Ormond Street Hospital for Children, Great Ormond Street, London WC1N 3JH, UK. Electronic address:

Article Synopsis
  • * Recent research examines the effectiveness of ketogenic diets as a potential treatment for patients with refractory status epilepticus.
  • * The article summarizes discussions from the 9th London-Innsbruck Colloquium, focusing on the practical aspects of applying ketogenic diets in critical care settings.
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Article Synopsis
  • The study aims to investigate whether children conceived through assisted reproductive technology (ART) have a higher risk of developing Langerhans cell histiocytosis (LCH) compared to the general population.
  • After analyzing data from over 118,000 children, it found 8 cases of LCH, which is higher than the expected 3.75 cases, but this result was not statistically significant.
  • The research indicated a notable association between increased LCH cases and specific ART methods like intracytoplasmic sperm injection (ICSI), especially in instances of male factor infertility, suggesting more research is needed despite the overall low risk.
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Article Synopsis
  • Community pharmacists play a crucial role in implementing pharmacogenomics by educating other healthcare professionals about its significance and promoting its use in practice in the UAE.
  • A survey conducted among 586 community pharmacists revealed that they had an average knowledge score of 75.1% and an attitude score of 67.5% regarding pharmacogenomics, with certain groups showing better scores based on experience, training, and pharmacy type.
  • The study highlights the importance of targeted training for pharmacists to enhance their understanding and attitudes towards pharmacogenomics, as it could impact patient care and medication management.
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Article Synopsis
  • Scientists are collecting a lot of genetic information from many people around the world to help improve medicine and health care for everyone.
  • To make the most out of this data, we need to work together and make it easier to share it safely and fairly.
  • The article talks about ways to get better at sharing this data, including using new technology and engaging with communities, and suggests 12 important steps we can all take to make this happen.
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