318 results match your criteria: "Sheffield Children's Hospital NHS Foundation Trust[Affiliation]"
J Pediatr Gastroenterol Nutr
January 2025
Department of Paediatrics, University Medical Centre Maribor, Maribor, Slovenia.
Anaemia is a frequent consequence of many gastrointestinal (GI) diseases in children and it can even be the initial presenting symptom of underlying chronic GI disease. The definition of anaemia is age and gender-dependent and it can be classified based on pathophysiology, red cell morphology, and clinical presentation. Although nutritional deficiencies, including GI malabsorption of nutrients and GI bleeding, play a major role, other pathophysiologic mechanisms seen in chronic GI diseases, whether inflammatory (e.
View Article and Find Full Text PDFEur J Hum Genet
January 2025
Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK.
Genet Med
December 2024
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK; Division of Clinical Medicine, University of Sheffield, Sheffield, UK. Electronic address:
Eur J Hum Genet
December 2024
National EDS Service, London North West University Healthcare NHS Trust, London, UK.
Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in predictive testing, and present data on 63 individuals (23 index cases) with a clinical and genetic diagnosis of vEDS in childhood (<18 years) to address this.
View Article and Find Full Text PDFAmyotroph Lateral Scler Frontotemporal Degener
December 2024
Department of Clinical Genetics, St George's University Hospitals NHS Foundation Trust, South West Thames Centre for Genomics, London, UK.
Eur J Hum Genet
December 2024
Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK.
Eur J Hum Genet
November 2024
Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK.
Eur J Hum Genet
January 2025
Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK.
Eur J Hum Genet
September 2024
Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK.
Surg Endosc
November 2024
Division of Gastroenterology, Hepatology and Nutrition, Department of Paediatrics, University of Lille, Inserm, CHU Lille, U1286 - INFINITE, Lille, France.
Background: Percutaneous endoscopic gastrostomy is commonly used for enteral nutritional access, but gastrocutaneous fistulae (GCF) may persist after tube removal, posing clinical challenges. The use of endoscopic closure devices, including over-the-scope clips (OTSC), has shown promise in managing non-healing fistulae, although data in the pediatric population are limited.
Methods: A retrospective multicenter study analyzed pediatric patients who underwent GCF closure following gastrostomy tube removal.
Evid Based Nurs
September 2024
Department of Nursing and Midwifery, Sheffield Hallam University, Sheffield, UK.
Evid Based Nurs
August 2024
Sheffield Children's Hospital NHS Foundation Trust, Sheffield, South Yorkshire, UK.
Arch Dis Child
September 2024
School of Healthcare, University of Leicester, Leicester, UK.
Background: The use of patient-facing health technologies to manage long-term conditions (LTCs) is increasing; however, children and young people (CYP) may have preferences about health technologies which they interact or engage with, that influence their decision to use these technologies.
Aims: To identify CYP's reported preferences about health technologies to self-manage LTCs.
Methods: We undertook a scoping review, searching MEDLINE, PsycINFO and CINAHL in July 2021.
Acta Neuropathol Commun
August 2024
Developmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.
The two types of craniopharyngioma, adamantinomatous (ACP) and papillary (PCP), are clinically relevant tumours in children and adults. Although the biology of primary craniopharyngioma is starting to be unravelled, little is known about the biology of recurrence. To fill this gap in knowledge, we have analysed through methylation array, RNA sequencing and pERK1/2 immunohistochemistry a cohort of paired primary and recurrent samples (32 samples from 14 cases of ACP and 4 cases of PCP).
View Article and Find Full Text PDFEur J Hum Genet
August 2024
Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK.
Eur J Hum Genet
July 2024
Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK.
Healthcare (Basel)
May 2024
Emergency Department, Sheffield Children's Hospital NHS Foundation Trust, Sheffield S10 2TH, UK.
Convolutional neural network (CNN) models were devised and evaluated to classify infrared thermal (IRT) images of pediatric wrist fractures. The images were recorded from 19 participants with a wrist fracture and 21 without a fracture (sprain). The injury diagnosis was by X-ray radiography.
View Article and Find Full Text PDFEur J Hum Genet
May 2024
Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK.
J Sleep Res
December 2024
Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.
Obstructive sleep apnea is associated with many co-morbidities in children and young people. Obesity has long been recognised as an important risk factor associated with obstructive sleep apnea. Currently, polysomnography is regarded as the gold-standard diagnostic tool for obstructive sleep apnea.
View Article and Find Full Text PDFEur J Hum Genet
April 2024
Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK.
Background: Type 2 diabetes in young people is an aggressive disease with a greater risk of complications leading to increased morbidity and mortality during the most productive years of life. Prevalence in the UK and globally is rising yet experience in managing this condition is limited. There are no consensus guidelines in the UK for the assessment and management of paediatric type 2 diabetes.
View Article and Find Full Text PDFEur J Hum Genet
March 2024
Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK.
Arch Dis Child
December 2024
Paediatric Allergy, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.
Objective: To evaluate the use of a questionnaire-based decision-making algorithm to triage children with reported antibiotic allergies to proceed directly to an oral provocation challenge.
Design: Cohort study.
Setting: Children aged 2-16 years attending paediatric emergency department over 1 year (1 June 2018 till 31 May 2019) or identified from four primary care centres in Sheffield with a recorded antibiotic allergy and no previous testing.
Arch Dis Child Fetal Neonatal Ed
June 2024
Institute for Regeneration and Repair, University of Edinburgh Division of Reproductive and Developmental Sciences, Edinburgh, UK.