7,831 results match your criteria: "Great Ormond Street Hospital for Children.[Affiliation]"
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.
HGG Adv
January 2025
Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA; ELLIS-European Laboratory for Learning and Intelligent Systems. Electronic address:
Article Synopsis
- The GA4GH Phenopacket Schema, released in 2022 and approved as a standard by ISO, allows the sharing of clinical and genomic data, including phenotypic descriptions and genetic information, to aid in genomic diagnostics.
- Phenopacket Store Version 0.1.19 offers a collection of 6668 phenopackets linked to various diseases and genes, making it a crucial resource for testing algorithms and software in genomic research.
- This collection represents the first extensive case-level, standardized phenotypic information sourced from medical literature, supporting advancements in diagnostic genomics and machine learning applications.
The Challenges of Performing Exome Sequencing in Structurally Normal Fetuses.
Prenat Diagn
October 2024
Centre for Public Health, Queen's University Belfast, Belfast, UK.
Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES).
Orphanet J Rare Dis
October 2024
St. John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Article Synopsis
- Pain is a significant issue for individuals with epidermolysis bullosa (EB), impacting their quality of life and identified as a priority for improved treatments.
- The Prospective EB Longitudinal Evaluation Study (PEBLES) gathered data over eight years from 61 participants to evaluate pain characteristics and treatments in different RDEB subtypes.
- Results showed that 93% of participants experienced pain, with a median background pain score of 40 and procedural pain score of 52; many did not use medication for pain management despite its severity.
Pituitary gland duplication syndrome - An international imaging analysis.
AJNR Am J Neuroradiol
October 2024
From the Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK (U.L.,F.D.), Laboratory of Developmental Biology, CNRS, Sorbonne-University, IPBS, Paris, France (M.C.), Department of Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, United States (M.H.L.), Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy (R.P.), Department of Radiology, Tartu University Hospital, Tartu, Estonia (P.I., D.L., A.T.), Department of Radiology, The University of Tartu, Tartu, Estonia (P.I.), UOC Neuroradiologia, ASST Papa Giovanni XXIII, Bergamo, Italy (G.P.), Department of Radiology, Leeds Teaching Hospitals NHS Trust, Leeds, UK (I.C.), Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.S., A.R.) and Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy (A.R.).
Article Synopsis
- Duplication of the pituitary gland is a rare condition, typically associated with various craniofacial malformations; this study reviewed ten patients to explore imaging features and potential causes of these anomalies.
- The imaging review focused on identifying the duplicated pituitary stalk and gland, along with noting distinct features of the hypothalamic region and associated abnormalities in the brain and spinal cord.
- The findings revealed normal imaging of the pituitary structures but several significant malformations and genetic mutations in the patients, indicating a complex interplay of developmental issues related to this anomaly.
Pediatric MOG-Ab-Associated Encephalitis: Supporting Early Recognition and Treatment.
Neurol Neuroimmunol Neuroinflamm
December 2024
From the Department of Neurology (N.N.K., O.A.-M., Y.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Department of Neuroinflammation (N.N.K., D.C., O.A.-M., C.H., O.C., Y.H.), Institute of Neurology, University College London; Children's Neurosciences (M.E., V.L., M.L., T.R.), Evelina London Children's Hospital, Guy's and St Thomas NHS Foundation Trust; Department of Women and Children's Health (M.E., M.L., T.R.), School of Life Course Sciences (SoLCS), King's College London; Department of Paediatrics (A.S., S.R., J.P.), Children's Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust; Department of Paediatric Neurology (M.V.C.), Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust; Translational and Clinical Research Sir James Spence Institute (R.F.), University of Newcastle, Royal Victoria Infirmary; Department of Neurology (R.F.), Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust; Department of Neurology (R.K.), Alder Hey Children's Hospital, Alder Hey Children's NHS Foundation Trust, Liverpool; Department of Paediatric Neurology (D.R., Siobhan West), Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust; Department of Neurology (E.W., Sukhvir Wright), Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust; Department of Neuroradiology (A.B., K.M.), Great Ormond Street Hospital, Great Ormond Street Hospital Trust, London, United Kingdom; Department of Neurology (E.P.F.), Laboratory Medicine and Pathology and Center for Multiple Sclerosis and Autoimmune Neurology, Rochester, MN; NIHR University College London Hospitals Biomedical Research Centre (O.C.); and Department of Neuroinflammation (O.C.), National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, United Kingdom.
Article Synopsis
- A study assessed children under 18 with antibodies to myelin oligodendrocyte glycoprotein (MOG-Ab), focusing on those with encephalitis who didn’t fit the criteria for acute disseminated encephalitis (ADEM), comparing them to those with ADEM.
- Out of 235 MOG-Ab positive patients, 33 had encephalitis and 74 had ADEM, with common symptoms including headache, seizures, and fever; 24% had a normal initial brain MRI.
- Findings indicated that children with encephalitis were generally older, more often admitted to intensive care, and had a delayed start of steroid treatment, suggesting MOG-Ab testing is essential for suspected encephalitis
Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded.
Eur J Neurol
December 2024
Pediatric Neurology Unit, Catholic University, Rome, Italy.
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.
Nitrous Oxide Manifold and Other Reduction of Emissions (NoMoreGas): a multicentre observational study evaluating pre-utilisation loss of nitrous oxide.
Br J Anaesth
December 2024
Department of Anaesthesia, Barts Health NHS Trust, London, UK.
Article Synopsis
- Nitrous oxide (NO) is a major greenhouse gas contributing to the healthcare sector's carbon footprint, with pre-utilisation losses of up to 95%, which can potentially be minimized by decommissioning NO manifolds.
- A study involving 18 hospitals in Greater London collected data on NO utilization over five days, revealing that only 18% of procured NO was utilized, leading to estimated pre-utilisation losses of over 5 million liters.
- The results indicated strong support among anaesthetists for decommissioning manifolds, highlighting both environmental and economic advantages in improving NO management.
Article Synopsis
- The study aimed to explore patient and healthcare professional (HCP) interactions during hospital admissions by applying temporal network analytics to electronic patient records (EPR) data.
- By analyzing structured EPR data from renal transplantation admissions between May 2019 and June 2023, researchers constructed individual interaction networks for each admission day, observing how HCPs connected with patients based on their location (ICU or ward).
- The results indicated that network analysis can reveal intricate patterns and dynamics of HCP interactions, offering valuable insights that traditional analysis methods may miss, which could enhance understanding and operation of hospital patient care.
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.
Enhanced Recovery After Surgery (ERAS) consensus recommendations for opioid-minimising pharmacological neonatal pain management.
BMJ Paediatr Open
October 2024
Department of Surgery, University of Calgary Cumming School of Medicine, Calgary, Canada.
Article Synopsis
- The study focused on creating consensus recommendations for managing neonatal pain during surgery, emphasizing evidence-based strategies to enhance recovery and minimize opioid use.
- An international guideline development committee involved paediatric anaesthesiologists, surgeons, and ERAS experts in defining patient eligibility and selecting relevant pain management topics.
- Ultimately, the committee recommended using regular acetaminophen and considering locoregional analgesia, while noting a need for further research on non-opioid options for effective pain control in neonates.
Antiviral Treatment and Risk of Hearing Loss in Asymptomatic and Mild Symptomatic Infants With Congenital Cytomegalovirus.
Pediatr Infect Dis J
October 2024
From the Pediatric Infectious Diseases Unit, Hospital Universitario 12 de Octubre, Universidad Complutense de Madrid, Madrid, Spain.
Article Synopsis
- The study aimed to evaluate hearing outcomes at 24 months for infants with mild congenital cytomegalovirus (cCMV) infection, comparing those who received antiviral treatment to those who did not.
- Utilizing data from the European Registry of Children with cCMV, researchers included infants diagnosed with cCMV early in life, who had normal physical exams and mild imaging findings.
- Results showed that 34.7% of the 196 participants received antiviral treatment, but there was no significant difference in hearing loss prevalence between treated (4.6%) and untreated groups (6.3%) after two years.
Named entity recognition of pharmacokinetic parameters in the scientific literature.
Sci Rep
October 2024
Institute for Global Health, University College London, London, UK.
The development of accurate predictions for a new drug's absorption, distribution, metabolism, and excretion profiles in the early stages of drug development is crucial due to high candidate failure rates. The absence of comprehensive, standardised, and updated pharmacokinetic (PK) repositories limits pre-clinical predictions and often requires searching through the scientific literature for PK parameter estimates from similar compounds. While text mining offers promising advancements in automatic PK parameter extraction, accurate Named Entity Recognition (NER) of PK terms remains a bottleneck due to limited resources.
View Article and Find Full Text PDFDevelopment of CARRA/PReS-endorsed consensus Core and Expanded Datasets in childhood-onset systemic lupus erythematosus for international registry-based research.
Ann Rheum Dis
October 2024
Department of Women's & Children's Health, University of Liverpool, Liverpool, UK
Article Synopsis
- Some experts and patients worked together to create a set of important data to help study childhood lupus, a disease that affects children.
- They made two datasets: a Core Dataset with 46 necessary items and an Expanded Dataset with 26 extra items, to help gather more information.
- This new information will help researchers around the world study childhood lupus better by using the same important facts and details.
Spinal presentations in children with spinal muscular atrophy type 1 following gene therapy treatment with onasemnogene abeparvovec - The SMA REACH UK network experience.
Neuromuscul Disord
November 2024
Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine, King's College London, London, UK. Electronic address:
Spinal muscular atrophy (SMA) is a neuromuscular disorder of mainly early onset and variable severity. Prior to the introduction of disease modifying therapies (DMTs), children with SMA type 1 typically died before 2 years of age and management was primarily palliative. Onasemnogene abeparvovec (OA), nusinersen, and risdiplam are novel DMTs which ameliorate the effects of the underlying genetic defect at least partially making SMA a treatable condition.
View Article and Find Full Text PDFPopulation pharmacokinetic modeling of ceftriaxone in cerebrospinal fluid in children: should we be using once- or twice-daily dosing for meningitis?
Antimicrob Agents Chemother
November 2024
Department of General Medicine and Laboratory Services, The Royal Children's Hospital Melbourne, Parkville, Australia.
Article Synopsis
- Guidelines suggest giving kids with bacterial meningitis a medicine called ceftriaxone in certain doses.
- Researchers studied how well this medicine enters the brain's protective fluid in kids and found that the once-daily method works better than the twice-daily method for some bacteria.
- They learned that while the once-a-day dose is better, neither dose worked well enough for treating all kinds of meningitis.
A call to action to scale up research and clinical genomic data sharing.
Nat Rev Genet
October 2024
Genomics England, London, UK.
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.
Risk factors and early outcomes associated with prolonged pleural effusion/chylothorax after paediatric cardiac surgery.
Eur J Cardiothorac Surg
October 2024
Cardiology and Intensive Care Departments, Bristol Royal Hospital for Children and the Heart Institute, Bristol, UK.
Article Synopsis
- Prolonged pleural effusion/chylothorax (PPE/C) is a complication in pediatric cardiac surgery that has not been thoroughly studied, prompting this investigation into its incidence, risk factors, and impact on outcomes.
- A multicentre study collected data on multiple post-operative complications across 5 UK hospitals, finding that PPE/C occurred in 6.5% of patients, typically 6 days after surgery, and increased mortality primarily in patients with multiple other complications.
- The study concludes that while PPE/C is associated with increased mortality, it does not significantly extend hospital length of stay in cases with multiple complications, highlighting the need for effective prevention and management strategies for PPE/C in complex post-operative care.
Use of an ambient artificial intelligence tool to improve quality of clinical documentation.
Future Healthc J
September 2024
TORTUS AI, Holborn Town Hall, London, UK.
Background: Electronic health records (EHRs) have contributed to increased workloads for clinicians. Ambient artificial intelligence (AI) tools offer potential solutions, aiming to streamline clinical documentation and alleviate cognitive strain on healthcare providers.
Objective: To assess the clinical utility of an ambient AI tool in enhancing consultation experience and the completion of clinical documentation.
Facilitating the use of routine data to evaluate artificial intelligence solutions: lessons from the NIHR/RCR data curation workshop.
Clin Radiol
December 2024
Department of Surgery & Cancer, Imperial College London, London, UK.
Article Synopsis
- Radiology is leading the way in using artificial intelligence (AI) in medicine, which is important for improving how patients are cared for.
- To help with this, three workshops are being organized for experts and industry leaders to share ideas and tackle challenges.
- The first workshop focused on using everyday data to evaluate AI, discussing ethics, data management, sharing methods, and the importance of considering patients' perspectives.
Meeting report from the 3rd ISCBH-ERN BOND Achondroplasia Workshop on Long Bone Pathology in Children with Achondroplasia, Salzburg, Austria 22nd June 2024.
Bone
January 2025
Children's Hospital, Otto-von-Guericke-University, Magdeburg, Germany.
Article Synopsis
- * The workshop aimed to address the lack of understanding among physicians about the pathophysiology, radiology, and orthopedic options for managing long bone deformities in children with achondroplasia.
- * The event featured presentations from a multinational survey, lectures, a debate, and interactive discussions, attracting 150 participants from 71 cities across 31 countries.
Pineal gland ADC values in children aged 0 to 4 years: normative data and usefulness in the differential diagnosis with trilateral retinoblastoma.
Neuroradiology
December 2024
Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Article Synopsis
- The study aimed to establish normative ADC values for the pineal gland in children aged 0-4, which can assist in diagnosing conditions like trilateral retinoblastoma, particularly when tumors are small.
- Researchers analyzed MRI data from 64 children with normal findings, calculating gland size and ADC values while grouping them by age.
- Results showed that normal ADC values were significantly higher than those found in patients with trilateral retinoblastoma, indicating that DWI/ADC could be useful in identifying small tumors in young children.
Pediatric oncology nutritional practices in high-income countries: A survey from the International Society of Paediatric Oncology (SIOP).
Pediatr Blood Cancer
December 2024
Division of Human Health, Department of Nuclear Sciences and Applications, International Atomic Energy Agency, Wien, Austria.
Background: Optimal nutrition in pediatric oncology can influence cancer-related outcomes. To establish an understanding of nutrition practice and perceptions of best practice, we queried nutrition providers practicing in pediatric oncology care centers in high-income countries.
Methods: An electronic, multidisciplinary, cross-sectional survey of nutrition practices was conducted among pediatric oncology nutrition practitioners.
Equity and timeliness as factors in the effectiveness of an ethical prenatal sequencing service: reflections from parents and professionals.
Eur J Hum Genet
October 2024
The Ethox Centre, Nuffield Department of Population Health and Wellcome Centre for Ethics and Humanities, University of Oxford, Oxford, UK.
Prenatal sequencing tests are being introduced into clinical practice in many developed countries. In part due to its greater ability to detect genetic variation, offering prenatal sequencing can present ethical challenges. Here we review ethical issues arising following the implementation of prenatal sequencing in the English National Health Service (NHS).
View Article and Find Full Text PDFClinical guideline for static renal cortical scintigraphy in paediatrics.
Nucl Med Commun
December 2024
Department of Radiology, Royal United Hospital, Bath, UK.