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Objective study validity diagnostics: a framework requiring pre-specified, empirical verification to increase trust in the reliability of real-world evidence.
J Am Med Inform Assoc
January 2025
Coordinating Center, Observational Health Data Science and Informatics, New York City, NY 10032, United States.
Objective: Propose a framework to empirically evaluate and report validity of findings from observational studies using pre-specified objective diagnostics, increasing trust in real-world evidence (RWE).
Materials And Methods: The framework employs objective diagnostic measures to assess the appropriateness of study designs, analytic assumptions, and threats to validity in generating reliable evidence addressing causal questions. Diagnostic evaluations should be interpreted before the unblinding of study results or, alternatively, only unblind results from analyses that pass pre-specified thresholds.
An (un)answered cry for help: a qualitative study exploring the subjective meaning of eating disorders in the context of transgenerational trauma.
J Eat Disord
January 2025
Bodywhys - The Eating Disorders Association of Ireland, 105, Blackrock, Co. Dublin, Ireland.
Background: Current research on the transmission of trauma and eating disorders across generations is limited. However, quantitative studies suggest that the influence of parents' and grandparents' eating disorders and their prior exposure to trauma are associated with the development of eating disorders in future generations. Qualitative research exploring personal accounts of the impact of transgenerational trauma on the development of eating disorders has been largely unexplored.
View Article and Find Full Text PDFImplementation of a program to strengthen oral hygiene in patient with cleft deformities: a prospective randomized controlled clinical trial.
Trials
January 2025
INSERM, Regenerative Medicine and Skeleton, RMeS, CHU Nantes, Nantes Université, UMR 1229, Nantes, 44000, France.
Background: Cleft lip and/or palate is the most common congenital orofacial deformity, affecting 1/800 births. A thorough review of the literature has shown that children with cleft have poorer oral hygiene and dental health than other children, with higher levels of caries in both temporary and permanent teeth and poorer periodontal health. Cleft patients are treated by a multidisciplinary team that aims to provide comprehensive care from pre- or post-natal diagnosis to early adulthood and the end of growth.
View Article and Find Full Text PDFQuality of life in people with syndromic heritable thoracic aortic disease and their relatives: a qualitative interview based study.
Orphanet J Rare Dis
January 2025
Department of Social Work, Child Welfare and Social Policy, Faculty of Social Science, Oslo Metropolitan University, Oslo, Norway.
Introduction: The purpose of this study was to investigate perceptions and opinions on what constitutes determinants for quality of life (QoL) in individuals with syndromic Heritable Aortic Disease (sHTAD), utilizing a qualitative study approach. Further to discuss clinical implications and direction for research.
Method: A qualitative focus group interview study was conducted of 47 adults (Marfan syndrome (MFS) = 14, Loeys-Dietz syndrome (LDS) = 11, vascular Ehlers Danlos syndrome (EDS) = 11, relatives = 11).
Neonatal meconium aspiration syndrome associated with ABCA3 gene mutation and mycoplasma infection: a case report.
BMC Pediatr
January 2025
Department of Pediatrics II (Neonatology), Medical University of Innsbruck, Innsbruck, Austria.
Preterm infants are at high risk of developing respiratory distress syndrome (RDS). Mutations in the genes encoding for surfactant proteins B and C or the ATP-binding cassette transporter A3 (ABCA3) are rare but known to be associated with severe RDS and interstitial lung diseases. The exact prevalence of these mutations in the general population is difficult to determine, as they are usually studied in connection with clinical symptoms.
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