318 results match your criteria: "Sheffield Children's Hospital NHS Foundation Trust[Affiliation]"

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.

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Welcome to 2025 from EJHG.

Eur J Hum Genet

January 2025

Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK.

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Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

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:

Article Synopsis
  • The TAOK proteins are important kinases involved in various cellular functions and are linked to neurodevelopmental disorders (NDDs) like those caused by TAOK1 and TAOK2 variants.
  • A study analyzed clinical and genetic data from individuals with these variants, revealing that TAOK1 variants lead to significant neurodevelopmental issues and some novel characteristics, while TAOK2 variants are tied to neurodevelopmental abnormalities, autism, and obesity.
  • This research expands the understanding of these disorders by presenting the largest cohort of individuals with TAOK1-NDD and identifying new variants and phenotypes associated with both TAOK1 and TAOK2.
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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.

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New guidelines for rare cancer syndromes.

Eur J Hum Genet

December 2024

Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK.

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Article Synopsis
  • Motor neuron disease (MND), commonly known as amyotrophic lateral sclerosis (ALS), can be caused by genetic factors in some cases, primarily through autosomal dominant inheritance.
  • The demand for genetic testing and counselling is increasing among individuals affected by MND, but there are currently no established guidelines for predictive genetic testing in this area.
  • The paper discusses the genetic basis of MND, addresses its complex nature, and highlights the need for better understanding and support regarding the psychosocial impacts of genetic testing on patients and families.
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Over-the-scope clip for closure of persistent gastrocutaneous fistula after gastrostomy tube removal: a multicenter pediatric experience.

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.

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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.

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Recurrent adamantinomatous craniopharyngiomas show MAPK pathway activation, clonal evolution and rare TP53-loss-mediated malignant progression.

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).

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Summer reading in EJHG.

Eur J Hum Genet

August 2024

Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK.

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Hitting the heights with CiteScore.

Eur J Hum Genet

July 2024

Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK.

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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.

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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.

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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.

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Solving medical mysteries with genomics.

Eur J Hum Genet

March 2024

Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK.

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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.

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