Articles: phenotype.
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Background and Objectives: Breast cancer is a leading cause of cancer-related deaths globally. This study investigates the impact of genetic polymorphisms in DNA methyltransferases (DNMT1 and DNMT3A) on breast cancer pathomorphology and patient prognosis. Specifically, we focused on DNMT1 polymorphisms rs2228611 and rs2228612 and DNMT3A polymorphisms rs2276598 and rs752208. ⋯ Conclusions: This study suggests that the DNMT1 and DNMT3A polymorphisms may influence breast cancer pathomorphology and prognosis. The DNMT1 rs2228611 G allele may be associated with earlier onset, and the DNMT3A rs752208 T allele might correlate with less aggressive tumors. These findings underscore the potential of DNMT gene polymorphisms as prognostic biomarkers in breast cancer, warranting further investigation with larger sample sizes.
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Chiari type-1 malformation (CM1) and syringomyelia (SM) are common related pediatric neurosurgical conditions with heterogeneous clinical and radiological presentations that offer challenges related to diagnosis and management. Artificial intelligence (AI) techniques have been used in other fields of medicine to identify different phenotypic clusters that guide clinical care. In this study, we use a novel, combined data-driven and clinician input feature selection process and AI clustering to differentiate presenting phenotypes of CM1 + SM. ⋯ This is the first study that uses an AI clustering algorithm combining a data-driven feature selection process with clinical expertise to identify different presenting phenotypes of CM1 + SM.
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Patients with sepsis-induced hypotension are generally treated with a combination of intravenous fluids and vasopressors. The attributes of patients receiving a liberal compared to a restrictive fluid strategy have not been fully characterized. We use machine learning (ML) techniques to identify key predictors of restrictive versus liberal fluids strategy, and the likelihood of receiving each strategy in distinct patient phenotypes. ⋯ We identified key predictors of restrictive versus liberal fluids strategy and distinct patient phenotypes for sepsis-induced hypotension.
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Prolonged labor, defined as labor extending beyond 20 hours for nulliparas and 14 hours for multiparas, poses significant risks to both maternal and neonatal health. The inflammatory response plays a crucial role in the pathophysiology of prolonged labor, with neutrophils being key players in this process. Neutrophils, the most abundant leukocytes, exhibit diverse phenotypes and functions in response to prolonged labor, influencing both the onset and progression of labor through their inflammatory actions. ⋯ Therapeutic strategies targeting neutrophil recruitment, NETosis, and cytokine production hold promise for managing prolonged labor. Modulating chemokine pathways, regulating NET formation, and balancing cytokine profiles may reduce inflammation and improve labor outcomes. Further research into the mechanisms of neutrophil regulation and the development of targeted therapies is essential for mitigating the adverse effects of prolonged labor and enhancing maternal and neonatal health.
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The reversal of microcirculation dysfunction is crucial for assessing the success of shock resuscitation and significantly influences patient prognosis. However hemodynamic incoherence is observed when microcirculatory dysfunction persists despite the restoration of macrocirculatory function post-resuscitation. Recent advancements in technology have enabled bedside assessment of microcirculation in shock patients, allowing for direct visualization of microcirculatory morphology and quantitative evaluation of its functional status. ⋯ Some classification frameworks have been proposed to enhance our understanding of these phenotypes. By integrating pathophysiological mechanisms, clinical symptoms, indicators of macrocirculation, microcirculation, tissue metabolism, and biomarkers, we can summarize certain clinical features of phenotypes in hemodynamic incoherence to form a conceptual framework. Additionally, strategies for creating targeted treatments based on different phenotypes require further validation.