Annals of medicine
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Objective: Given the psychosocial and ethical burden, patients with hypertrophic cardiomyopathy (HCMs) could benefit from the establishment of genetic probability prior to the test. This study aimed to develop a simple tool to provide genotype prediction for HCMs. Methods: A convolutional neural network (CNN) was built with the 12-lead electrocardiogram (ECG) of 124 HCMs who underwent genetic testing (GT), externally tested by predicting the genotype on another HCMs cohort (n = 54), and compared with the conventional methods (the Mayo and Toronto score). ⋯ Compared with the former, patients predicted genotype-positive had a significantly higher HCM risk-SCD (0.04 ± 0.03 vs. 0.03 ± 0.02, p <0.01). Visualization indicated that the prediction was heavily influenced by the limb lead. Conclusions: The network demonstrated a promising ability in genotype prediction and risk assessment in HCM.
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Inflammation is an important pathogenic factor of most malignant tumors. It is essential to understand mechanism underlying inflammation and cancer development, so as to formulate and develop anti-cancer treatment strategies. However, inflammatory-related gene characterization as well as risk model construction in prognosis and response chemotherapy or immunotherapy in NSCLC are still remain unclear. ⋯ Inflammatory-related gene risk-score is the potential chemotherapeutic and immunotherapeutic biomarker for NSCLC, and targeting KRT6A sensitive to mitoxantrone and oxaliplatin in NSCLC.HighlightsInflammatory-related genes can lay a certain foundation for distinguishing high-risk NSCLC cases with dismal prognostic outcome.Risk-score base on inflammatory-related genes is positive correlated with CD274, TGFBR1 and TGFB1 expression.Targeting KRT6A sensitive to mitoxantrone and oxaliplatin in H1299 and HCC827 cells.
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Surgery, the treatment of choice for parotid pleomorphic adenoma (PA), is associated with facial nerve palsy and decreased quality of life. Re-operation for PA recurrence (rPA) significantly increases these risks and constitutes a dilemma for both patient and surgeon. Factors influencing the success of re-operation, as well as the self-reported satisfaction of both sides, have yet to be addressed in the literature. This study aims to improve upon the decision-making schedule in PA re-operations, based on patient expectations, imaging, and concordance with the first operative report (FOpR). ⋯ Accurate pre-operative imaging impacted surgeon satisfaction. The impact of the FOpR on re-operation technicalities and patient satisfaction was minor. Imaging precision should be improved to streamline the decision-making process of PA re-operation. This article proposes suggestions for a future decision-making algorithm as a starting point for a prospective study.Key messagesAccurate pre-operative imaging impacts both surgeon and patient satisfaction.There is no significant relationship between the accuracy of the first operative report and surgeon and patient satisfaction.There is a statistically significant relationship between patient and surgeon satisfaction.
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Orofacial clefts are the most common congenital malformation, but the global burden and trends of orofacial clefts have not been comprehensively analysed. The aim of this study was to assess the global incidence, deaths and disability-adjusted life years (DALYs) of orofacial clefts by countries, regions, sex and sociodemographic index (SDI) from 1990 to 2019. ⋯ Global achievement is evident in the control of the burden of orofacial clefts. The future focus of prevention should be on low-income countries, such as South Asia and Africa, by increasing healthcare resources and improving quality.KEY MESSAGESThis is the most recent estimate of the global epidemiology of orofacial clefts, with some countries not previously assessed.The global burden of orofacial clefts showed downward trends from 1990 to 2019; however, some low-income countries are still suffering from increasing burdens.Effective measures should be taken to reduce the burden of orofacial clefts in the uncontrolled regions.
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This study aims to evaluate the prognostic value of m6A-associated long noncoding RNAs (lncRNAs) and their interaction with tumour microenvironment in thyroid cancer (THCA). ⋯ Eleven of the m6A-associated lncRNAs were identified as a risk model to predict clinical outcomes and provide a novel and efficient immunotherapeutic strategy for THCA patients.Key messagesm6A-associated lncRNAs can be used to predict the clinical outcomes of thyroid cancer patients.An m6A-associated lncRNAs risk model, which can accurately evaluate the immune status and risk stratification in individual thyroid cancer patients, was established.Knockdown/overexpression of representative lncRNAs in the risk model significantly affected the proliferation and migration of papillary thyroid cancer cells.