3,173 results match your criteria: "Royal Hospital for Sick Children[Affiliation]"

Let's hear it for the boys.

Hum Reprod

January 2021

Medical Research Council (MRC) Centre for Reproductive Health, The University of Edinburgh, The Queen's Medical Research Institute, Edinburgh, EH16 4TJ, UK.

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Managing nonspecific abdominal pain in children and young people.

CMAJ

November 2020

Department of Paediatrics (Chanchlani), Royal Devon and Exeter Hospital, Exeter, UK; Department of Paediatric Gastroenterology (Walters), The Hospital for Sick Children, Toronto, Ont.; Department of Paediatric Gastroenterology (Russell), Royal Hospital for Sick Children, Edinburgh, UK.

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The mechanisms linking maternal stress in pregnancy with infant neurodevelopment in a sexually dimorphic manner are poorly understood. We tested the hypothesis that maternal hypothalamic-pituitary-adrenal axis activity, measured by hair cortisol concentration (HCC), is associated with microstructure, structural connectivity, and volume of the infant amygdala. In 78 mother-infant dyads, maternal hair was sampled postnatally, and infants underwent magnetic resonance imaging at term-equivalent age.

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Aims: Severe spinal deformity in growing patients often requires surgical management. We describe the incidence of spinal deformity surgery in a National Health Service.

Methods: Descriptive study of prospectively collected data.

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Reconstitution of rat fetal testis during the masculinisation programming window induces focal dysgenesis consistent with testicular dysgenesis syndrome.

Sci Rep

November 2020

MRC Centre for Reproductive Health, The Queen's Medical Research Institute, The University of Edinburgh, 47 Little France Crescent, Edinburgh, EH16 4TJ, Scotland, UK.

Focal dysgenesis is a consistent feature of testicular dysgenesis syndrome (TDS) in humans. Rodent studies show that perturbation of androgens (e.g.

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Objectives: Uncertainty around clinical heterogeneity and outcomes for patients with JDM represents a major burden of disease and a challenge for clinical management. We sought to identify novel classes of patients having similar temporal patterns in disease activity and relate them to baseline clinical features.

Methods: Data were obtained for n = 519 patients, including baseline demographic and clinical features, baseline and follow-up records of physician's global assessment of disease (PGA), and skin disease activity (modified DAS).

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Gonadal dysfunction and infertility after cancer treatment are major concerns for childhood cancer survivors and their parents. Uncertainty about fertility or being diagnosed with infertility has a negative impact on quality of survival. In this article, determinants of gonadal damage are reviewed and consequences for fertility and pregnancies are discussed.

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Fertility preservation in the cancer setting, known as oncofertility, is a field that requires cross-disciplinary interaction between physicians, basic scientists, clinical researchers, ethicists, lawyers, educators, and religious leaders. Funded by the National Institutes of Health, the Oncofertility Consortium (OC) was formed to be a scientifically grounded, transparent, and altruistic resource, both intellectual and monetary, for building this new field of practice capable of addressing the unique needs of young patients with cancer. The OC has expanded its attention to include other nonmalignant conditions that can threaten fertility, and the work of the OC now extends around the globe, involving partners who together have created a community of shared effort, resources, and practices.

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Purpose: As new evidence is available, the International Late Effects of Childhood Cancer Guideline Harmonization Group has updated breast cancer surveillance recommendations for female survivors of childhood, adolescent, and young adult cancer.

Methods: We used evidence-based methods to apply new knowledge in refining the international harmonized recommendations developed in 2013. The guideline panel updated the systematic literature review, developed evidence summaries, appraised the evidence, and updated recommendations on the basis of evidence, clinical judgement, and consideration of benefits versus the harms of the surveillance interventions while attaining flexibility in implementation across different health care systems.

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Article Synopsis
  • Understanding treatment delays for uncomplicated malaria (UM) is crucial as delays can increase the risk of developing severe malaria (SM).
  • A meta-analysis involving 13 studies with nearly 4,000 SM patients and over 5,700 UM cases found that longer delays in treatment are significantly linked to higher odds of severe disease, particularly in children.
  • The findings suggest that quicker access to treatment could potentially reduce the incidence of severe malaria, emphasizing the importance of effective treatment interventions like 'test-and-treat' policies.
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Purpose: Undetected and prolonged epileptic seizures can result in hypoxic brain damage or death and occur most often when the victim is in bed alone or unsupervised. Sudden unexpected death in epilepsy may not always be preventable but it is believed that timely assistance with rescue medication and body re-positioning may overcome respiratory compromise in some cases. A novel algorithm based on a real time moving 9 s epoch, calculating 25 % percentage heart rate change and/or an oxygen saturation trigger level of <85 % was developed using photoplethysmography and incorporated into a prototype data storage device.

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PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.

Genes Dev

November 2020

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, the University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.

DNA replication is fundamental for cell proliferation in all organisms. Nonetheless, components of the replisome have been implicated in human disease, and here we report encoding the catalytic subunit of DNA primase as a novel disease gene. Using a variant classification agnostic approach, biallelic mutations in PRIM1 were identified in five individuals.

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Purpose: Lamins are the major component of nuclear lamina, maintaining structural integrity of the nucleus. Lamin A/C variants are well established to cause a spectrum of disorders ranging from myopathies to progeria, termed laminopathies. Phenotypes resulting from variants in LMNB1 and LMNB2 have been much less clearly defined.

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The Medical Management of Paediatric Crohn's Disease: an ECCO-ESPGHAN Guideline Update.

J Crohns Colitis

October 2020

Assistance Publique- Hôpitaux de Paris, Hôpital Necker Enfants Malades, Pediatric Gastroenterology, Paris, France.

Article Synopsis
  • The study aimed to update the ECCO-ESPGHAN guidelines for the medical management of pediatric Crohn's disease by developing 17 clinical questions and conducting a systematic literature search from 1991 to 2019.
  • A consensus meeting refined 30 preliminary statements into 22 that achieved over 80% agreement, focusing on identifying high-risk patients and optimizing treatment strategies.
  • Key recommendations include using anti-TNF agents for severe cases, exclusive enteral nutrition for low-risk patients, and regular monitoring through faecal calprotectin or imaging to adjust treatments effectively.
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Introduction: Coeliac disease (CD) is a systemic immune-mediated disorder triggered by gluten in genetically predisposed individuals. CD is diagnosed using a combination of serology tests and endoscopic biopsy of the small intestine. However, because of non-specific symptoms and heterogeneous clinical presentation, diagnosing CD is challenging.

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Fertility Preservation in Childhood Cancer: Endocrine Activity in Prepubertal Human Testis Xenografts Exposed to a Pubertal Hormone Environment.

Cancers (Basel)

September 2020

Medical Research Council (MRC) Centre for Reproductive Health, The University of Edinburgh, The Queen's Medical Research Institute, 47 Little France Crescent, Edinburgh EH16 4TJ, UK.

Survivors of childhood cancer are at risk for long-term treatment-induced health sequelae, including gonadotoxicity and iatrogenic infertility. At present, for prepubertal boys there are no viable clinical options to preserve future reproductive potential. We investigated the effect of a pubertal induction regimen with gonadotrophins on prepubertal human testis xenograft development.

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Paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 [PIMS-TS] is a newly described condition. It has a spectrum of presentations proposed to occur as part of a post-infectious immune response. We report the first case of PIMS-TS in a child on established anti-tumour necrosis factor alpha [anti-TNFα] therapy; a 10 year-old girl with ulcerative colitis treated with infliximab.

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Supraglottic airway devices for administration of surfactant to newborn infants with respiratory distress syndrome: a narrative review.

Arch Dis Child Fetal Neonatal Ed

May 2021

Women, Children and Families, Central Coast Local Health District, Gosford, New South Wales, Australia.

Surfactant is an effective treatment for respiratory distress syndrome, being particularly important for infants in whom continuous positive airway pressure (CPAP) provides insufficient support. Supraglottic airway devices present an attractive option for surfactant delivery, particularly as an alternative to methods dependent on direct laryngoscopy, a procedural skill that is both difficult to learn and in which to maintain competence. Published studies provide encouraging data that surfactant administration by supraglottic airway device can be performed with a high rate of success and may reduce the need for subsequent intubation compared with either continued CPAP or surfactant administration via endotracheal tube.

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Background A 'limping child' commonly presents to the emergency department (ED). In the absence of trauma, many are diagnosed with irritable hip (IH). The aetiology of IH is not well understood and there may be geographical and seasonal variations.

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In the PDA-TOLERATE trial, persistent (even for several weeks) moderate to large patent ductus arteriosus (PDA) was not associated with an increased risk of BPD when the infant required <10 days of intubation. However, in infants requiring intubation for ≥10 days, prolonged PDA exposure (≥11 days) was associated with an increased risk of moderate/severe BPD.

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