Annals of medicine
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Chromosomal microarray analysis (CMA) has been widely applied to genetic diagnosis in miscarriages in clinical practice. However, the prognostic value of CMA testing of products of conception (POCs) after the first clinical miscarriage remains unknown. The aim of this study was to evaluate the reproductive outcomes after embryonic genetic testing by CMA in SM couples. ⋯ SM couples with chromosomally abnormal miscarriage manifested with a similar reproductive prognosis to couples with chromosomally normal miscarriage. Key messagesCMA testing of POCs could provide an accurate genetic diagnosis for couples with SM.The live birth rate of couples with partial aneuploid miscarriage was as high as couples with chromosomally normal miscarriage, despite a higher risk of adverse pregnancy event.Among couples with the most common single aneuploid miscarriage, the cumulative live birth rates of couples with trisomy 16, sex chromosomal abnormalities and trisomy 22 were 94.1%, 95.8% and 84.0%, respectively.
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Chronic diseases often accumulate with musculoskeletal (MSK) pain. However, less evidence is available on idiosyncratic patterns of chronic diseases and their relationships with the severity of MSK pain in general MSK pain populations. ⋯ Distinct patterns of chronic disease accumulation can be identified in the general MSK pain population. It seems that mental and metabolic health are at interplay with severe MSK pain. These findings suggest a potential need to screen for psychiatric and metabolic entities of health when treating working-aged people with MSK pain.Key messagesThis large study on middle-aged people with musculoskeletal pain aimed to examine the idiosyncratic patterns of chronic diseases and their relationships with the severity of musculoskeletal pain. Latent class cluster analysis identified three chronic disease clusters: Psychiatric, Metabolic, and Relatively Healthy. People with accumulated mental (Psychiatric cluster) or metabolic diseases (Metabolic cluster) experienced more severe pain than people who were relatively healthy (Relatively Healthy cluster). These findings suggest a potential need to screen for psychiatric and metabolic entities of health when treating working-aged people with MSK pain.
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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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To evaluate diagnostic performance of metagenomic next-generation sequencing (mNGS) for Pneumocystis jirovecii pneumonia (PCP), in comparison with polymerase chain reaction (PCR), Gomori methenamine silver (GMS) staining and serum 1,3-β-d-Glucan (BG) assay. ⋯ mNGS shows superiority over several common clinical methods in the diagnosis of suspected PCP. Serum BG in conjunction with mNGS further improved the diagnostic efficacy of mNGS.
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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.