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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.
Engineering Saccharomyces cerevisiae for medical applications.
Microb Cell Fact
January 2025
Chair of Biochemistry of Microorganisms, Faculty of Life Sciences: Food, Nutrition and Health, University of Bayreuth, 95326, Kulmbach, Germany.
Background: During the last decades, the advancements in synthetic biology opened the doors for a profusion of cost-effective, fast, and ecologically friendly medical applications priorly unimaginable. Following the trend, the genetic engineering of the baker's yeast, Saccharomyces cerevisiae, propelled its status from an instrumental ally in the food industry to a therapy and prophylaxis aid.
Main Text: In this review, we scrutinize the main applications of engineered S.
Diagnosis, treatment, and management of Mpox in urban Informal Settlements in Southwestern Nigeria: an ethnographic approach.
BMC Public Health
January 2025
Health & Nutrition Cluster, Institute of Development Studies, University of Sussex, Brighton, UK.
Background: Global re-emergence of the zoonotic viral disease, Mpox (Monkeypox) has drawn global attention, leading to its declaration as a Public Health Emergency of International Concern (PHEIC) by World Health Organisation (WHO) in July 2022. Nigeria is a spotlight identified for the viral disease outbreak, with attention drawn on its transmission to non-endemic nations. With the country's healthcare challenges, care seeking practices particularly amongst low-income urban informal settlement populations are diverse - presenting challenges to both case identification and management during an outbreak.
View Article and Find Full Text PDFLong read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.
BMC Pediatr
January 2025
Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, 123 Tianfei Alley, Nanjing, 210004, People's Republic of China.
Background: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance.
Case Presentation: Herein, we report a Chinese girl with intellectual disability, developmental delay, and congenital heart defect, in whom G-banded karyotype analysis identified a de novo paracentric inversion 46,XX, inv(15)(q15q26.
Management of acute myocardial infarction in chronic kidney disease in Germany: an observational study.
BMC Nephrol
January 2025
Department of Internal Medicine II, Universitätsmedizin (Halle), Medical Faculty of the Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Straße 40, 06120, Halle (Saale), Germany.
Background: Managing acute myocardial infarction (AMI) in patients with chronic kidney disease (CKD) or end-stage renal disease on dialysis (renal replacement therapy, RRT) presents challenges due to elevated complication risks. Concerns about contrast-related kidney damage may lead to the omission of guideline-directed therapies like percutaneous coronary intervention (PCI) or coronary artery bypass grafting (CABG) in this population.
Methods: We analysed German-DRG data of 2016 provided by the German Federal Bureau of Statistics (DESTATIS).
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