Twin concordance rates provide insight into the possibility of a genetic background for a disease. These concordance rates are usually estimated within a frequentistic framework. Here we take a Bayesian approach. For rare diseases, estimation methods based on asymptotic theory cannot be applied due to very low cell probabilities. Moreover, a Bayesian approach allows a straightforward incorporation of prior information on disease prevalence coming from non-twin studies that is often available. An MCMC estimation procedure is tested using simulation and contrasted with frequentistic analyses. The Bayesian method is able to include prior information on both concordance rates and prevalence rates at the same time and is illustrated using twin data on cleft lip and rheumatoid arthritis.
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http://dx.doi.org/10.1007/s10519-012-9547-9 | DOI Listing |
BMC Emerg Med
January 2025
Department of Emergency Medicine, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, No.138, Sheng Li Road, Tainan city, 704, Taiwan.
Background: Out-of-hospital cardiac arrest (OHCA) presents significant challenges with low survival rates, emphasizing the need for effective bystander CPR training. In Basic Life Support (BLS) training, the role of instructors is pivotal as they assess and correct learners' cardiopulmonary resuscitation (CPR) techniques to ensure proficiency in life-saving skills. This study evaluates the concordance between CPR quality assessments by Basic Life Support (BLS) instructors and those determined through Quantitative CPR (QCPR) devices, utilizing data from BLS courses conducted at National Cheng Kung University Hospital from October 2017 to April 2018.
View Article and Find Full Text PDFAnal Chem
January 2025
Center of Clinical Laboratory Medicine, Zhongda Hospital, Medical School of Southeast University, Nanjing 210009, Jiangsu, China.
The incidence of cervical cancer continues to rise in underdeveloped regions due to low human papillomavirus (HPV) vaccination rates and inadequate screening systems. To achieve convenient, rapid, and accurate detection of HPV, we developed a three-wire lateral flow strip assay system based on dual-OR logic gates for rapid and simultaneous detection of HPV subtypes 16 and 18 in a single test. The system combines three-branch-catalytic hairpin assembly (TCHA)-mediated signal amplification with simple OR logic gate-based signal output to improve detection rates while enabling HPV 16/18 subtype identification.
View Article and Find Full Text PDFJ Mol Diagn
February 2025
Daiichi Sankyo, Inc., Basking Ridge, New Jersey.
This study demonstrates the analytical and clinical validity of the approved (United States and Japan) plasma-based Guardant360 companion diagnostic (CDx) test for selecting patients with human epidermal growth factor receptor 2 (HER2 [ERBB2])-mutated (HER2m) non-small-cell lung cancer (NSCLC) for trastuzumab deruxtecan (T-DXd) treatment. Concordance between the Guardant360 CDx test and the plasma-based AVENIO ctDNA Expanded Kit Assay (AVENIO), as well as the tissue-based clinical trial assays (CTAs) was investigated. Clinical utility was assessed by comparing T-DXd clinical efficacy results of patients in DESTINY-Lung01/02 who tested positive for HER2 mutations using the Guardant360 CDx test to benchmark efficacy results from DESTINY-Lung01/02.
View Article and Find Full Text PDFJMIR Med Inform
January 2025
Department of Systems Design Engineering, Faculty of Engineering, University of Waterloo, Waterloo, ON, Canada.
Background: While expert optometrists tend to rely on a deep understanding of the disease and intuitive pattern recognition, those with less experience may depend more on extensive data, comparisons, and external guidance. Understanding these variations is important for developing artificial intelligence (AI) systems that can effectively support optometrists with varying degrees of experience and minimize decision inconsistencies.
Objective: The main objective of this study is to identify and analyze the variations in diagnostic decision-making approaches between novice and expert optometrists.
J Gen Intern Med
January 2025
Icahn School of Medicine at Mount Sinai, Institute for Health Equity Research, New York, USA.
Background: Over 60 million patients in the USA have limited English proficiency (LEP) and experience barriers in care. Still, there exists no standardized method of monitoring the utilization of language interpreting services (LIS).
Objective: To introduce a methodological approach to systematically monitor utilization of LIS for LEP patients.
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