Publications by authors named "Delaney H"

Background: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder. This study aimed to study the genotype distribution of FCS-causing genes in the United Kingdom, genotype-phenotype correlation, and clinical differences between FCS and multifactorial chylomicronemia syndrome (MCS).

Methods: The study included 154 patients (FCS, 74; MCS, 80) from the UK FCS national registry and the UK arm of the FCS International Quality Improvement and Service Evaluation Project.

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With histopathology results typically taking several days, the ability to stage tumors during interventions could provide a step change in various cancer interventions. X-ray technology has advanced significantly in recent years with the introduction of phase-based imaging methods. These have been adapted for use in standard labs rather than specialized facilities such as synchrotrons, and approaches that enable fast 3D scans with conventional x-ray sources have been developed.

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Background And Aims: Prognosis and management differ between familial chylomicronaemia syndrome (FCS), a rare autosomal recessive disorder, and multifactorial chylomicronaemia syndrome (MCS) or severe mixed hyperlipidaemia. A clinical scoring tool to differentiate these conditions has been devised but not been validated in other populations. The objective of this study was to validate this score in the UK population and identify any additional factors that might improve it.

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Article Synopsis
  • Reducing the time it takes to diagnose rare diseases like Fibrous Dysplasia/McCune Albright Syndrome (FD/MAS) is crucial, as variable symptoms can prolong diagnosis for patients.
  • A study using the UK-based RUDY research database analyzed 51 individuals with FD/MAS, revealing a median diagnosis time of two years, with many patients reporting pain as their first symptom and a significant percentage receiving incorrect initial diagnoses.
  • The findings indicate that many patients experience diagnostic delays, emphasizing the need to improve healthcare pathways for better identification and treatment of FD/MAS.
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Background: Suboptimal or slow recruitment affects 30-50% of trials. Education and training of trial recruiters has been identified as one strategy for potentially boosting recruitment to randomised controlled trials (hereafter referred to as trials). The Training tRial recruiters, An educational INtervention (TRAIN) project was established to develop and assess the acceptability of an education and training intervention for recruiters to neonatal trials.

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We have reviewed the genetic basis of chylomicronaemia, the difference between monogenic and polygenic hypertriglyceridaemia, its effects on pancreatic, cardiovascular, and microvascular complications, and current and potential future pharmacotherapies. Severe hypertriglyceridaemia (TG > 10 mmol/L or 1000 mg/dL) is rare with a prevalence of <1%. It has a complex genetic basis.

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Background/aims: Data are limited on the frequency of 'consensus decisions' between sub-specialists attending a neurovascular multidisciplinary meeting (MDM) regarding management of patients with extracranial carotid/vertebral stenoses and post-MDM 'adherence' to such advice.

Methods: This prospective audit/quality improvement project collated prospectively-recorded data from a weekly Neurovascular/Stroke Centre MDM documenting the proportion of extracranial carotid/vertebral stenosis patients in whom 'consensus management decisions' were reached by neurologists, vascular surgeons, stroke physicians-geriatricians and neuroradiologists. Adherence to MDM advice was analysed in asymptomatic carotid stenosis (ACS), symptomatic carotid stenosis (SCS), 'indeterminate symptomatic status stenosis' (ISS) and vertebral artery stenosis (VAS) patients, including intervals between index event to MDM + / - intervention.

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Background: As COVID-19 continued to impact society and health, maternity care, as with many other healthcare sectors across the globe, experienced tumultuous changes. These changes have the potential to considerably impact on the experience of maternity care. To gain insight and understanding of the experience of maternity care during COVID-19, from the perspectives of women and maternity care providers, we undertook a qualitative evidence synthesis (QES).

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The International Committee of Medical Journal Editors (ICMJE) requires trials submitted for publication to be registered before recruitment of the first participant; however, there is ambiguity around the definition of recruitment and in anchoring the trial start date, end date, and recruitment, or as often interchangeably referred to, enrolment, temporally to trial processes. There is potential for variation in how recruitment is reported and understood in trial protocols and trial reports. We report on a concept analysis of 'trial recruitment' and develop an operational definition of 'trial recruitment'.

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Considerable changes in maternity care provision internationally were implemented in response to COVID-19. Such changes, often occurring suddenly with little advance warning, have had the potential to affect women's and maternity care providers experience of maternity care, both positively and negatively. For this reason, to gain insight and understanding of personal and professional experiences, we will perform a synthesis of the available qualitative evidence on women and maternity care providers' views and experiences of maternity care during COVID-19.

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Neuroinflammation contributes to Alzheimer's disease (AD) progression. Secondary inflammatory insults trigger delirium and can accelerate cognitive decline. Individual cellular contributors to this vulnerability require elucidation.

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Background: Raising awareness of the importance of fetal movements (FMs) and advising women on the appropriate action to take if they experience reduced FMs, is important for minimising or avoiding adverse perinatal outcomes. To gain insight and understanding of women's perspectives of assessing FMs in pregnancy, we conducted a qualitative evidence synthesis.

Methods: A qualitative evidence synthesis using thematic synthesis was conducted.

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Background: The COVID-19 pandemic has created a sense of urgency in the research community in their bid to contribute to the evidence required for healthcare policy decisions. With such urgency, researchers experience methodological challenges to maintain the rigour and transparency of their work. With this in mind, we offer reflections on our recent experience of undertaking a rapid Cochrane qualitative evidence synthesis (QES).

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Introduction: Extracorporeal membrane oxygenation (ECMO) is a classic low-volume high-risk procedure that requires just in time and/or refresher training through animal or simulation modalities. This manuscript evaluated the performance of ECMO personnel trained with both modalities to determine which is better suited for ECMO skills training.

Methods: Participants (physicians, nurses and respiratory/medical technicians) completed a series of ECMO scenarios with synthetic tissue cannulation task trainer as well as a live tissue model.

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Background: Osteogenesis imperfecta, fibrous dysplasia/McCune-Albright syndrome and X-linked hypophosphatemia are three rare musculoskeletal diseases characterised by bone deformities, frequent fractures and pain. Little high-quality research exists on appropriate treatment and long-term management of these conditions in adults. This is further worsened by limited research funding in rare diseases and a general mismatch between the existing research priorities and those of the patients.

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Article Synopsis
  • - This review focuses on identifying the barriers and facilitators that healthcare workers face when trying to follow infection prevention and control (IPC) guidelines during the COVID-19 pandemic, highlighting the importance of these guidelines in managing respiratory infectious diseases.
  • - The study emphasizes the need for proper support from authorities and healthcare facilities, recognizing that adherence to IPC strategies like using personal protective equipment can be challenging and time-consuming for healthcare workers.
  • - The review utilized qualitative and mixed-methods studies to gather insights into healthcare workers' experiences with IPC guidelines, aiming to better understand what helps or hinders their compliance in various healthcare settings.
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Background And Aims: Standardized tobacco packaging was introduced in the United Kingdom in May 2016, together with larger graphic warnings. This study explored young Scottish people's awareness of and perceptions about standardized tobacco packaging in the United Kingdom.

Design: Qualitative study using 16 focus groups conducted February-March 2017.

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Objective: Task-oriented role assignment (TORA) is the assignment of a specific role, a list of tasks, and a location to stand to each resuscitation team member. We performed this study to examine the impact of TORA training during a Neonatal Resuscitation Program (NRP) course on neonatal resuscitation team technical performance and behavioral skills.

Study Design: Participants were cluster randomized into either a standard NRP course (control) or an NRP course with TORA training.

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Researchers detecting heterogeneity of regression in a treatment outcome study including a covariate and random assignment to groups often want to investigate the simple treatment effect at the sample grand mean of the covariate and at points one standard deviation above and below that mean. The estimated variances of the simple treatment effect that have traditionally been used in such tests were derived under the assumption that the covariate values were fixed constants. We derive results appropriate for a two-group experiment that instead presume the covariate is a normally distributed random variable.

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Introduction: Mounting evidence suggests that practice on simulators leads to improved operative skills and patient safety. With restrictions on resident work hours resulting in less exposure to procedures, simulation is the key to developing operative skills during residency and beyond. Residency programs struggle with implementing a simulation program due to timing and availability of residents.

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Objective: The objective of this study was to examine the effectiveness of education and training interventions on recruitment to randomized and non-randomized trials.

Study Design And Setting: A systematic review of the effectiveness of education and training interventions for recruiters to trials. The review included randomized and non-randomized controlled trials of any type of education and training intervention for recruiters to trials, within any health care field.

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Background: Simulation is widely used in graduate medical education. A prior survey showed that 80% of Neonatal-Perinatal Medicine (NPM) fellowship programs in the U.S.

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Alagille syndrome (AGS) is an autosomal-dominant, multisystem disorder caused by mutations in the JAG1 gene. A 34-year-old man was referred to our service 10 years ago with focal seizures with impaired awareness and transient slurred speech. He had a 5-year history of intermittent left monocular low-flow retinopathy.

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