Executive summary

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No abstract text is available yet for this article.

Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-driven ascertainment of novel genetic conditions. The degree to which reported phenotype data in discovery-focused studies address informational priorities for clinicians and families is unclear. We identified reports published from 2017 to 2021 in 10 genetics journals of novel Mendelian disorders. We adjudicated the quality and detail of the phenotype data via 46 questions pertaining to six priority domains: (I) Development, cognition, and mental health; (II) Feeding and growth; (III) Medication use and treatment history; (IV) Pain, sleep, and quality of life; (V) Adulthood; and (VI) Epilepsy...

AIM: Blood Sampling Guidelines have been developed to target European emergency medicine-related professionals involved in the blood sampling process (e.g. physicians, nurses, phlebotomists working in the ED), as well as laboratory physicians and other related professionals. The guidelines population focus on adult patients. The development of these blood sampling guidelines for the ED setting is based on the collaboration of three European scientific societies that have a role to play in the preanalytical phase process: EuSEN, EFLM, and EUSEM...

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Background: ChatGPT is an artificial intelligence tool, which utilizes machine learning to analyze and generate human-like text. The user-friendly accessibility of this tool enables patients conveniently access medical information without intricate terminology challenges. The objective of this study was to assess the accuracy of ChatGPT in providing insights into indications and management of complications after tonsillectomy, a common pediatric otolaryngology procedure. Methods: The responses generated by ChatGPT were compared to the "Clinical practice guidelines: tonsillectomy in children-executive summary" developed by the American Academy of Otolaryngology-Head and Neck Surgery Foundation (AAO-HNSF)...

OBJECTIVE: Critical thinking and accurate case analysis is difficult to quantify even within the context of routine morbidity and mortality reporting. We designed and implemented a HIPAA-compliant adverse outcome reporting system that collects weekly resident assessments of clinical care across multiple domains (case summary, complications, error analysis, Clavien-Dindo Harm, cognitive bias, standard of care, and ACGME core competencies). We hypothesized that incorporation of this system into the residency program's core curriculum would allow for identification of areas of cognitive weakness or strength and provide a longitudinal evaluation of critical thinking development...

INTRODUCTION: One of the most common musculoskeletal pain that causes disability in healthcare settings is low back pain that presents without a specific cause and is known as nonspecific low back pain (NSLBP). NSLBP can cause impairment in motor control, which is the ability of the body to execute a precise and stabilized movement in space. Many factors affect motor control dysfunction and lead to different physical impairments, consequently requiring different approaches in clinical settings...

Lesion mapping studies allow us to evaluate the potential causal contribution of specific brain areas to human cognition and complement other cognitive neuroscience methods, as several authors have recently pointed out. Here, we present an updated summary of the findings from the Vietnam Head Injury Study (VHIS) focusing on the studies conducted over the last decade, that examined the social mind and its intricate neural and cognitive underpinnings. The VHIS is a prospective, long-term follow-up study of Vietnam veterans with penetrating traumatic brain injury (pTBI) and healthy controls (HC)...

BACKGROUND: Diabetes mellitus (DM) stands as the most prevalent endocrine abnormality affecting the physiological systems and organs and impairing the male reproductive functions. Type 2 Diabetes Mellitus (T2DM), accounting for about 90-95% of DM, is closely associated with male infertility. However, the magnitude of the causal relationships between T2DM and male infertility remains unclear. The current investigation was to explore the causal relationship between T2DM and male infertility utilizing the Mendelian Randomization (MR) analysis...

Our institute established an eye plaque interstitial brachytherapy (EPIBT) program in 2007 using the Collaborative Ocular Melanoma Study (COMS) eye plaque. In this case report, we demonstrated an eye plaque treatment planned and executed using Eye Physics Plaque (Los Alamitos, CA) for a 72-year-old male patient with an extra-large tumor with a maximum width of 18.6 mm and height of 13.7 mm. The use of a customized eye plaque, manufactured through three-dimensional (3D) printing, has empowered us to plan and administer treatment for this patient with uveal melanoma...

The National Trauma Research Action Plan (NTRAP) project successfully engaged multidisciplinary experts to define opportunities to advance trauma research and has fulfilled the recommendations related to trauma research from the National Academies of Sciences, Engineering and Medicine (NASEM) report. These panels identified more than 4,800 gaps in our knowledge regarding injury prevention and the optimal care of injured patients and laid out a priority framework and tools to support researchers to advance this field...

The Kidney Disease: Improving Global Outcomes (KDIGO) Clinical Practice Guideline for the Evaluation and Management of Chronic Kidney Disease (CKD) updates the KDIGO 2012 guideline and has been developed with patient partners, clinicians, and researchers around the world, using robust methodology. This update, based on a substantially broader base of evidence than has previously been available, reflects an exciting time in nephrology. New therapies and strategies have been tested in large and diverse populations that help to inform care; however, this guideline is not intended for people receiving dialysis nor those who have a kidney transplant...

Purpose: The purpose of this study was to determine the effects of nonimmersive virtual reality (VR) and task-oriented circuit training on gait, balance, cognitive domains, and quality of life among the elderly population. Methods: This is a single-blind randomized control trial in which 28 elderly individuals between 60 and 75 years were selected. The participants were divided into two groups, task-oriented circuit training and the other receiving nonimmersive VR treatment, with 14 participants in each group...

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In the context of the COVID-19 pandemic, there has been a scarcity of resources with various effects on the care of cancer patients. This paper provides an English summary of a German guideline on prioritization and resource allocation for colorectal and pancreatic cancer in the context of the pandemic. Based on a selective literature review as well as empirical and ethical analyses, the research team of the CancerCOVID Consortium drafted recommendations for prioritizing diagnostic and treatment measures for both entities...

OBJECTIVE: The history of airbags for occupant protection in frontal crashes is reviewed from the perspective of a former Senior Executive at NHTSA from the early 1970's to the late 1980's. This paper summarizes the factors that led to regulatory delays as well as those that led to voluntary adoption of airbags by several manufacturers. METHODS: The regulatory history and interactions with airbag suppliers and vehicle manufactures is recounted citing key steps in the evolution of frontal airbags...

BACKGROUND: The American Radium Society (ARS) Central Nervous System (CNS) committee reviewed literature on epidermal growth factor receptor mutated (EGFRm) and ALK-fusion (ALK+) tyrosine kinase inhibitors (TKIs) for the treatment of brain metastases (BrMs) from non-small cell lung cancers (NSCLC) to generate appropriate use guidelines addressing use of TKIs in conjunction with or in lieu of radiotherapy (RT). METHODS: The panel developed three key questions to guide systematic review: can radiotherapy be deferred in patients receiving EGFR or ALK TKIs at 1) diagnosis or 2) recurrence? Should TKI be administered concurrently with RT (3)? Two literature searches were performed (May 2019 and December 2023)...

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ObjectiveIt is widely understood that a key means of improving health systems and patient outcomes is through research - accessing, understanding, generating and applying research evidence-based practice. To promote more targeted and strategic research in Allied Health practice, this study sought to establish the principles, areas and priorities for clinical research as perceived by Allied Health leaders in the South Australian public health system.MethodsThe study used a mixed-methods design (full, sequential and equal model)...