394 results match your criteria: "Dublin School of Medicine[Affiliation]"

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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Aims: Atypical ductal hyperplasia and flat epithelial atypia (FEA) have defined diagnostic criteria, yet there is variation in the interpretation of these criteria, particularly when the atypia is present in a background of columnar cell lesions (CCLs). This study focuses upon cases which are especially challenging or difficult to classify reproducibly according to existing criteria.

Methods And Results: Thirteen breast pathology experts were asked to classify 10 challenging cases with CLLs as atypical or non-atypical.

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Aims/objective: Assess the demographic/education backgrounds of team physicians (TPs) in the National Hockey League (NHL) and American Hockey League (AHL).

Materials/methods: Orthopedic Surgeon (O) and Primary Care (PC) TPs for each NHL and AHL team were recorded based on an internet search. Age, sex, and race were collected.

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Neurodiversity refers to the variation in human cognitive, sensory, and communication experiences and reframes deficits as differences. Rates and duration of hospitalisation in neurodiverse children are higher compared to their neurotypical peers. Despite increased admissions, paediatric medical hospitals are poorly equipped to adequately support their unique cognitive, sensory, behavioural, and communication needs, which can have negative impacts on the experiences of patients, families, and staff.

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This article aims to review and comment upon the current "state of play" for research around contact and tackle training in women's rugby, covering tackle injury risk, match contact demands, players' experiences of contact coaching and contact skill preparation. In women's rugby, the tackle is the most common match technical-physical contest, accounting for around two-thirds of all injuries and carrying the greatest injury burden. Players' experience and technical abilities are key determinants of tackle safety and performance.

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Background: Interstitial lung disease (ILD) is rarer in children (chILD) than adults, but with increasing diagnostic awareness, more cases are being discovered. chILD prognosis is often poor, but increasing numbers are now surviving into adulthood.

Aim: To characterize chILD-survivors and identify their impact on adult-ILD centers.

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Guidelines and guidance: what is the path forward for the ISTH?

J Thromb Haemost

November 2024

Division of General Internal Medicine, Department of Medicine, McMaster University, St. Joseph's Healthcare Hamilton, Hamilton, Ontario, Canada; Division of Hematology and Thromboembolism, Department of Medicine, McMaster University, St. Joseph's Healthcare Hamilton, Hamilton, Ontario, Canada. Electronic address:

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Recent advancements in oncology have led to the development of histology-agnostic therapies, which target genetic alterations irrespective of the tumor's tissue of origin. This review aimed to provide a comprehensive update on the current state of histology-agnostic drug development, focusing on key therapies, including pembrolizumab, larotrectinib, entrectinib, dostarlimab, dabrafenib plus trametinib, selpercatinib, trastuzumab deruxtecan, and reprotrectinib. We performed a detailed analysis of each therapy's mechanism of action, clinical trial outcomes, and associated biomarkers.

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Objective: The objective of this study was to describe the rationale and design of two multinational phase 3 clinical trials of survodutide, an investigational glucagon and glucagon-like peptide-1 receptor dual agonist for the treatment of obesity with or without type 2 diabetes (T2D; SYNCHRONIZE-1 and -2).

Methods: In these ongoing double-blind trials, participants were randomized to once-weekly subcutaneous injections of survodutide or placebo added to lifestyle modification. Survodutide doses are uptitrated to 3.

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Background: Procalcitonin-guided antimicrobial decision-making has been shown to be safe in adult intensive care settings. Most antimicrobial exposure in neonatal units is in culture-negative conditions. We hypothesise that Procalcitonin aids antimicrobial stewardship efforts in suspected Late-Onset Neonatal Sepsis.

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Dual agonism of glucagon and glucagon-like peptide-1 (GLP-1) receptors may be more effective than GLP-1 receptor agonism alone in reducing body weight, but the cardiovascular (CV) effects are unknown. The authors describe the rationale and design of SYNCHRONIZE-CVOT, a phase 3, randomized, double-blind, parallel-group, event-driven, CV safety study of survodutide, a dual glucagon and GLP-1 receptor agonist, administered subcutaneously once weekly compared with placebo in adults with a body mass index ≥27 kg/m and established CV disease or chronic kidney disease, and/or at least 2 weight-related complications or risk factors for CV disease. The primary endpoint of SYNCHRONIZE-CVOT is time to first occurrence of the composite adjudicated endpoint of 5-point major adverse CV events.

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Objectives: The aim of this study was to systematically review the literature to assess the application of AI-based interventions in lung cancer screening, and its future implications.

Methods: Relevant published literature was screened using PRISMA guidelines across three databases: PubMed, Scopus, and Web of Science. Search terms for article selection included "artificial intelligence," "radiology," "lung cancer," "screening," and "diagnostic.

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What Makes an Effective Chief of Pediatric Cardiology: Insights From Chiefs of North American Pediatric Programs.

J Am Heart Assoc

November 2024

Department Paediatric Cardiology Children's Health Ireland at Crumlin Dublin Ireland.

Article Synopsis
  • The study aimed to clarify the roles, responsibilities, and qualifications of pediatric cardiology chiefs by surveying those currently in the position across North America, addressing a gap in the literature.* -
  • A total of 62% of pediatric cardiology chiefs participated in a mixed-methods survey, revealing key attributes necessary for the role, including communication skills, honesty, and conflict resolution, while also highlighting concerns about administrative demands and a lack of diversity.* -
  • The findings emphasize the importance of communication and mentorship in leadership roles and suggest that future research should explore broader perspectives, including faculty and international viewpoints.*
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Article Synopsis
  • Acute portomesenteric venous thrombosis (PVT) is a serious condition that can occur in individuals without liver cirrhosis, requiring careful management.
  • Initial treatment often involves anticoagulation therapy, but researchers are still investigating the best interventional techniques available.
  • The article also examines the relevance of acute PVT in today's health issues, including its connections to COVID-19, vaccine-related blood clots, and liver transplantation.
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Article Synopsis
  • The study was a retrospective analysis of traumatic spinal cord injuries (SCI) in Ireland, aiming to gather recent epidemiological data before a new trauma strategy was introduced and assess any effects of the COVID-19 pandemic.
  • The study included patients discharged from major rehabilitation and healthcare centers between 2017 and 2022, revealing a crude incidence rate of 14 per million per year, with 12.7% of patients not surviving to discharge.
  • The findings indicated that the majority of patients were male (75.7%), with a mean age of 50.1 years at injury onset, and the leading cause of injury was falls, particularly among older individuals, consistent with previous studies on the topic.
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Ready-to-eat, shelf-stable tortillas contain several phosphorus- and aluminum-containing additives that may increase the risk of adverse events in patients with chronic kidney disease (CKD). The present study analyzes and compares the elemental content of wheat flour and corn tortillas with special reference to dietary aluminum and phosphorus burden. Twenty-one elements were quantified by ICP-MS and ICP-OES in 14 corn and 13 wheat flour tortilla brands purchased from local supermarkets in Southern California.

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Recent advances in therapy and the promulgation of multidisciplinary pulmonary embolism teams show great promise to improve management and outcomes of acute pulmonary embolism (PE). However, the absence of randomized evidence and lack of consensus leads to tremendous variations in treatment and compromises the wide implementation of new innovations. Moreover, the changing landscape of health care, where quality, cost, and accountability are increasingly relevant, dictates that a broad spectrum of outcomes of care must be routinely monitored to fully capture the impact of modern PE treatment.

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Bicuspid aortic valve (BAV), the most common congenital heart defect, is a major cause of aortic valve disease requiring valve interventions and thoracic aortic aneurysms predisposing to acute aortic dissections. The spectrum of BAV ranges from early onset valve and aortic complications (EBAV) to sporadic late onset disease. Rare genomic copy number variants (CNVs) have previously been implicated in the development of BAV and thoracic aortic aneurysms.

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Background: Factors associated with severe COVID-19 infection have been identified; however, the impact of infection on longer-term outcomes is unclear. The objective of this study was to examine the impact of COVID-19 infection on the trajectory of lung function and nutritional status in people with cystic fibrosis (pwCF).

Methods: This is a retrospective global cohort study of pwCF who had confirmed COVID-19 infection diagnosed between January 1, 2020 and December 31, 2021.

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Impedance threshold device as a countermeasure for spaceflight associated neuro-ocular syndrome (SANS): Mitigating mechanisms in proposed pathophysiology.

Life Sci Space Res (Amst)

August 2024

Center for Space Medicine, Baylor College of Medicine, Houston, Texas, United States; Department of Ophthalmology, Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas, United States; The Houston Methodist Research Institute, Houston Methodist Hospital, Houston, Texas, United States; Departments of Ophthalmology, Neurology, and Neurosurgery, Weill Cornell Medicine, New York, New York, United States; Department of Ophthalmology, University of Texas Medical Branch, Galveston, Texas, United States; University of Texas MD Anderson Cancer Center, Houston, Texas, United States; Texas A&M College of Medicine, Bryan, Texas, United States; Department of Ophthalmology, The University of Iowa Hospitals and Clinics, Iowa City, Iowa, United States. Electronic address:

Article Synopsis
  • - Long-duration spaceflight (LDSF) poses specific health risks, notably Spaceflight Associated Neuro-ocular Syndrome (SANS), linked to changes in fluid dynamics and increased pressure in the brain due to microgravity.
  • - SANS is unique to space environments, as there is no equivalent condition on Earth, although some studies attempt to simulate space conditions through bed rest and head-down tilting.
  • - Proposed solutions to combat SANS include using thigh cuffs for blood flow regulation and devices like the impedance threshold device (ITD) to help reduce intracranial pressure.
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Lower body negative pressure as a research tool and countermeasure for the physiological effects of spaceflight: A comprehensive review.

Life Sci Space Res (Amst)

August 2024

Center for Space Medicine, Baylor College of Medicine, Houston, TX, United States; Department of Ophthalmology, Blanton Eye Institute, Houston Methodist Hospital, Houston, TX, United States; The Houston Methodist Research Institute, Houston Methodist Hospital, Houston, TX, United States; Departments of Ophthalmology, Neurology, and Neurosurgery, Weill Cornell Medicine, New York, NY, United States; Department of Ophthalmology, University of Texas Medical Branch, Galveston, TX, United States; University of Texas MD Anderson Cancer Center, Houston, TX, United States; Texas A&M College of Medicine, TX, United States; Department of Ophthalmology, The University of Iowa Hospitals and Clinics, Iowa City, IA, United States. Electronic address:

Article Synopsis
  • Lower Body Negative Pressure (LBNP) helps shift blood from the upper body to the lower body, potentially helping astronauts deal with fluid redistribution effects in space.
  • Over the past 50 years, advancements in LBNP technology have increased our understanding of how spaceflight affects various bodily systems, particularly in reducing bone loss.
  • This study aims to review the historical development of LBNP and its potential uses in addressing the diverse physiological challenges astronauts face, while advocating for its broader application in ensuring astronaut health during space missions.
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