Various methodologies for the genetic analysis of longitudinal data have been proposed and applied to data from large-scale genome-wide association studies (GWAS) to identify single nucleotide polymorphisms (SNPs) associated with traits of interest and to detect SNP-time interactions. We recently proposed a grid-based Bayesian mixed model for longitudinal genetic data and showed that our Bayesian method increased the statistical power compared to the corresponding univariate method and well detected SNP-time interactions. In this paper, we further analyze longitudinal obesity-related traits such as body mass index, hip circumference, waist circumference, and waist-hip ratio from Korea Association Resource data to evaluate the proposed Bayesian method. We first conducted GWAS analyses of cross-sectional traits and combined the results of GWAS analyses through a meta-analysis based on a trajectory model and a random-effects model. We then applied our Bayesian method to a subset of SNPs selected by meta-analysis to further discover SNPs associated with traits of interest and SNP-time interactions. The proposed Bayesian method identified several novel SNPs associated with longitudinal obesity-related traits, and almost 25% of the identified SNPs had significant p-values for SNP-time interactions.

Objectives: Although medical artificial intelligence (AI) systems that assist healthcare professionals in critical care settings are expected to improve healthcare, skepticism exists regarding whether their potential has been fully actualized. Therefore, we aimed to conduct a qualitative study with physicians and nurses to understand their needs, expectations, and concerns regarding medical AI; explore their expected responses to recommendations by medical AI that contradicted their judgments; and derive strategies to implement medical AI in practice successfully. Methods: Semi-structured interviews were conducted with 15 healthcare professionals working in the emergency room and intensive care unit in a tertiary teaching hospital in Seoul. The data were interpreted using summative content analysis. In total, 26 medical AI topics were extracted from the interviews. Eight were related to treatment recommendation, seven were related to diagnosis prediction, and seven were related to process improvement. Results: While the participants expressed expectations that medical AI could enhance their patients’ outcomes, increase work efficiency, and reduce hospital operating costs, they also mentioned concerns regarding distortions in the workflow, deskilling, alert fatigue, and unsophisticated algorithms. If medical AI decisions contradicted their judgment, most participants would consult other medical staff and thereafter reconsider their initial judgment. Conclusions Healthcare professionals wanted to use medical AI in practice and emphasized that artificial intelligence systems should be trustworthy from the standpoint of healthcare professionals. They also highlighted the importance of alert fatigue management and the integration of AI systems into the workflow.

Stroke is an ischemic disease caused by clotted vessel-induced cell damage. It is characterized by high morbidity and mortality and is typically treated with a tissue plasminogen activator (tPA). However, this therapy is limited by temporal constraints. Recently, several studies have focused on cell therapy as an alternative treatment. Most researches have used fixed donor cell administration, and hence, the effect of donor-dependent cell administration is unknown. In this study, we administered 3 types of donor-derived human umbilical cord blood mesenchymal stem cells (hUCB-MSCs) in the ischemic boundary zone of the ischemic stroke rat model. We then performed functional and pathological characterization using rotarod, the limb placement test, and immunofluorescent staining. We observed a significant decrease in neuron number, and notable stroke-like motor dysfunction, as assessed by the rotarod test (~40% decrease in time) and the limb placement test (4.5 point increase) in control rats with ischemic stroke. The neurobehavioral performance of the rats with ischemic stroke that were treated with hUCB-MSCs was significantly better than that of rats in the vehicle-injected control group. Regardless of which donor cells were used, hUCB-MSC transplantation resulted in an accumulation of neuronal progenitor cells, and angiogenic and tissue repair factors in the ischemic boundary zone. The neurogenic and angiogenic profiles of the 3 types of hUCB-MSCs were very similar. Our results suggest that intraparenchymal administration of hUCB-MSCs results in significant therapeutic effects in the ischemic brain regardless of the type of donor.
Animals ; Brain ; Brain Ischemia* ; Cell- and Tissue-Based Therapy ; Extremities ; Fetal Blood ; Humans* ; Ischemia ; Mesenchymal Stromal Cells* ; Models, Animal ; Mortality ; Neurogenesis ; Neurons ; Rats* ; Rotarod Performance Test ; Stem Cells ; Stroke ; Tissue Donors ; Tissue Plasminogen Activator ; Umbilical Cord*

BACKGROUND: Using analysis of air samples from the workplace, we report on one case of pneumoconiosis in an individual who has been working in a polytetrafluoroethylene (PTFE) spraying process for 28 years. CASE PRESENTATION: The patient was diagnosed with granulomatous lung disease caused by PTFE using computed tomography (CT), lung biopsy and electron microscopy. To assess the qualitative and quantitative exposure to PTFE in workplace, Fourier transform infrared spectroscopy (FT-IR), energy-dispersive X-ray spectroscopy (EDX) and thermogravimetric analysis (TGA) were performed on air samples from the workplace. The presence of PTFE particles was confirmed, and the airborne concentration of PTFE was estimated to be 0.75 mg/m3. CONCLUSIONS: This case demonstrates that long-term exposure to PTFE spraying can cause granulomatous lung lesions such as pneumoconiosis; such lesions appear to be caused not by the degradation products of PTFE from high temperatures but by spraying the particles of PTFE. Along with air-sampling analysis, we suggest monitoring the concentration of airborne PTFE particles related to chronic lung disease.
Biopsy ; Humans ; Hygiene ; Lung ; Lung Diseases ; Microscopy, Electron ; Occupational Diseases ; Pneumoconiosis ; Polytetrafluoroethylene ; Spectroscopy, Fourier Transform Infrared ; Spectrum Analysis