Epma Journal最新文献

{"title":"Clarifying the effect of gut microbiota on allergic conjunctivitis risk is instrumental for predictive, preventive, and personalized medicine: a Mendelian randomization analysis.","authors":"Kangcheng Liu, Yingjun Cai, Kun Song, Ruolan Yuan, Jing Zou","doi":"10.1007/s13167-023-00321-9","DOIUrl":"https://doi.org/10.1007/s13167-023-00321-9","url":null,"abstract":"<p><strong>Background: </strong>Allergic conjunctivitis is an ocular immune disease which affects the conjunctiva, eyelids, and cornea. Growing evidence implicates the gut microbiota in balancing and modulating immunity response, and in the pathogenesis of allergic disease. As a result, gut microbial imbalance could be a useful indicator for allergic conjunctivitis. From the perspective of predictive, preventive, and personalized medicine (PPPM), clarifying the role of gut microbial imbalance in the development of allergic conjunctivitis could provide a window of opportunity for primary prediction, targeted prevention, and personalized treatment of the disease.</p><p><strong>Working hypothesis and methodology: </strong>In our study, we hypothesized that individuals with microbial dysbiosis may be more susceptible to allergic conjunctivitis due to an increased inflammatory response. To verify the working hypothesis, our analysis selected genetic variants linked with gut microbiota features (<i>N</i> = 18,340) and allergic conjunctivitis (4513 cases, 649,376 controls) from genome-wide association studies. The inverse-variance weighted (IVW) estimate, Mendelian randomization (MR)-Egger, weighted median estimator, maximum likelihood estimator (MLE), and MR robust adjusted profile score (MR.RAPS) were employed to analyze the impact of gut microbiota on the risk of allergic conjunctivitis and identify allergic conjunctivitis-related gut microbes. Ultimately, these findings may enable the identification of individuals at risk of allergic conjunctivitis through screening of gut microbial imbalances, and allow for new targeted prevention and personalized treatment strategies.</p><p><strong>Results: </strong>Genetic liability to <i>Ruminococcaceae_UCG_002</i> (OR, 0.83; 95% CI, 0.70-0.99; <i>P</i> = 4.04×10<sup>-2</sup>), <i>Holdemanella</i> (OR, 0.78; 95% CI, 0.64-0.96; <i>P</i> = 2.04×10<sup>-2</sup>), <i>Catenibacterium</i> (OR, 0.69; 95% CI, 0.56-0.86; <i>P</i> = 1.09×10<sup>-3</sup>), <i>Senegalimassilia</i> (OR, 0.71; 95% CI, 0.55-0.93; <i>P</i> = 1.23×10<sup>-2</sup>) genus were associated with a low risk of allergic conjunctivitis with IVW. Besides, we found suggestive associations of a genetic-driven increase in the <i>Oscillospira</i> (OR, 1.41; 95% CI, 1.00-2.00; <i>P</i> = 4.63×10<sup>-2</sup>) genus with a higher risk of allergic conjunctivitis. Moreover, MLE and MR.RAPS show consistent results with IVW after further validation and strengthened confidence in the true causal associations. No heterogeneity and pleiotropy was detected.</p><p><strong>Conclusions: </strong>Our study suggests that gut microbiota may play a causal role in the development of allergic conjunctivitis and provides new insights into the microbiota-mediated mechanism of the disease. Gut microbiota may serve as a target for future predictive diagnostics, targeted prevention, and individualized therapy in allergic conjunctivitis, facilitating the transition from reactive med","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"14 2","pages":"235-248"},"PeriodicalIF":6.5,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10201039/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9637823","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multi-omics identification of an immunogenic cell death-related signature for clear cell renal cell carcinoma in the context of 3P medicine and based on a 101-combination machine learning computational framework.","authors":"Jinsong Liu, Yanjia Shi, Yuxin Zhang","doi":"10.1007/s13167-023-00327-3","DOIUrl":"10.1007/s13167-023-00327-3","url":null,"abstract":"<p><strong>Background: </strong>Clear cell renal cell carcinoma (ccRCC) is a prevalent urological malignancy associated with a high mortality rate. The lack of a reliable prognostic biomarker undermines the efficacy of its predictive, preventive, and personalized medicine (PPPM/3PM) approach. Immunogenic cell death (ICD) is a specific type of programmed cell death that is tightly associated with anti-cancer immunity. However, the role of ICD in ccRCC remains unclear.</p><p><strong>Methods: </strong>Based on AddModuleScore, single-sample gene set enrichment analysis (ssGSEA), and weighted gene co-expression network (WGCNA) analyses, ICD-related genes were screened at both the single-cell and bulk transcriptome levels. We developed a novel machine learning framework that incorporated 10 machine learning algorithms and their 101 combinations to construct a consensus immunogenic cell death-related signature (ICDRS). ICDRS was evaluated in the training, internal validation, and external validation sets. An ICDRS-integrated nomogram was constructed to provide a quantitative tool for predicting prognosis in clinical practice. Multi-omics analysis was performed, including genome, single-cell transcriptome, and bulk transcriptome, to gain a more comprehensive understanding of the prognosis signature. We evaluated the response of risk subgroups to immunotherapy and screened drugs that target specific risk subgroups for personalized medicine. Finally, the expression of ICD-related genes was validated by qRT-PCR.</p><p><strong>Results: </strong>We identified 131 ICD-related genes at both the single-cell and bulk transcriptome levels, of which 39 were associated with overall survival (OS). A consensus ICDRS was constructed based on a 101-combination machine learning computational framework, demonstrating outstanding performance in predicting prognosis and clinical translation. ICDRS can also be used to predict the occurrence, development, and metastasis of ccRCC. Multivariate analysis verified it as an independent prognostic factor for OS, progression-free survival (PFS), and disease-specific survival (DSS) of ccRCC. The ICDRS-integrated nomogram provided a quantitative tool in clinical practice. Moreover, we observed distinct biological functions, mutation landscapes, and immune cell infiltration in the tumor microenvironment between the high- and low-risk groups. Notably, the immunophenoscore (IPS) score showed a significant difference between risk subgroups, suggesting a better response to immunotherapy in the high-risk group. Potential drugs targeting specific risk subgroups were also identified.</p><p><strong>Conclusion: </strong>Our study constructed an immunogenic cell death-related signature that can serve as a promising tool for prognosis prediction, targeted prevention, and personalized medicine in ccRCC. Incorporating ICD into the PPPM framework will provide a unique opportunity for clinical intelligence and new management approaches.</p><p><strong","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"14 2","pages":"275-305"},"PeriodicalIF":6.5,"publicationDate":"2023-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236109/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9584954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Underexplored reciprocity between genome-wide methylation status and long non-coding RNA expression reflected in breast cancer research: potential impacts for the disease management in the framework of 3P medicine.","authors":"Andrea Kapinova,&nbsp;Alena Mazurakova,&nbsp;Erika Halasova,&nbsp;Zuzana Dankova,&nbsp;Dietrich Büsselberg,&nbsp;Vincenzo Costigliola,&nbsp;Olga Golubnitschaja,&nbsp;Peter Kubatka","doi":"10.1007/s13167-023-00323-7","DOIUrl":"10.1007/s13167-023-00323-7","url":null,"abstract":"<p><p>Breast cancer (BC) is the most common female malignancy reaching a pandemic scale worldwide. A comprehensive interplay between genetic alterations and shifted epigenetic regions synergistically leads to disease development and progression into metastatic BC. DNA and histones methylations, as the most studied epigenetic modifications, represent frequent and early events in the process of carcinogenesis. To this end, long non-coding RNAs (lncRNAs) are recognized as potent epigenetic modulators in pathomechanisms of BC by contributing to the regulation of DNA, RNA, and histones' methylation. In turn, the methylation status of DNA, RNA, and histones can affect the level of lncRNAs expression demonstrating the reciprocity of mechanisms involved. Furthermore, lncRNAs might undergo methylation in response to actual medical conditions such as tumor development and treated malignancies. The reciprocity between genome-wide methylation status and long non-coding RNA expression levels in BC remains largely unexplored. Since the bio/medical research in the area is, per evidence, strongly fragmented, the relevance of this reciprocity for BC development and progression has not yet been systematically analyzed. Contextually, the article aims at:consolidating the accumulated knowledge on both-the genome-wide methylation status and corresponding lncRNA expression patterns in BC andhighlighting the potential benefits of this consolidated multi-professional approach for advanced BC management. Based on a big data analysis and machine learning for individualized data interpretation, the proposed approach demonstrates a great potential to promote predictive diagnostics and targeted prevention in the cost-effective primary healthcare (sub-optimal health conditions and protection against the health-to-disease transition) as well as advanced treatment algorithms tailored to the individualized patient profiles in secondary BC care (effective protection against metastatic disease). Clinically relevant examples are provided, including mitochondrial health control and epigenetic regulatory mechanisms involved.</p>","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"14 2","pages":"249-273"},"PeriodicalIF":6.5,"publicationDate":"2023-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236066/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9587928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ideal cardiovascular health metrics and life expectancy free of cardiovascular diseases: a prospective cohort study.","authors":"Qiuyue Tian, Shuohua Chen, Jie Zhang, Cancan Li, Shouling Wu, Yanxiu Wang, Youxin Wang","doi":"10.1007/s13167-023-00322-8","DOIUrl":"10.1007/s13167-023-00322-8","url":null,"abstract":"<p><strong>Objectives: </strong>Whether cardiovascular health (CVH) metrics impact longevity with and without cardiovascular diseases (CVDs) has not been well established. This study aimed to investigate the association between CVH metrics and life expectancy in participants free of CVD events. We hypothesized that ideal CVH status was associated with increased life expectancy and assessed the effect of CVH status as a prevention target of longevity in the framework of predictive, preventive, and personalized medicine (PPPM/3PM).</p><p><strong>Methods: </strong>A total of 92,795 participants in the Kailuan study were examined and thereafter followed up until 2020. We considered three transitions (from non-CVD events to incident CVD events, from non-CVD events to mortality, and from CVD events to mortality). The multistate lifetable method was applied to estimate the life expectancy.</p><p><strong>Results: </strong>During a median follow-up of 13 years, 12,541 (13.51%) deaths occurred. Compared with poor CVH, ideal CVH attenuated the risk of incident CVD events and mortality without CVD events by approximately 58% and 27%, respectively. Women with ideal CVH at age 35 had a 5.00 (3.23-6.77) year longer life expectancy free of CVD events than did women with poor CVH metrics. Among men, ideal CVH was associated with a 6.74 (5.55-7.93) year longer life expectancy free of CVD events.</p><p><strong>Conclusion: </strong>An ideal CVH status is associated with a lower risk of premature mortality and a longer life expectancy, either in the general population or in CVD patients, which are cost-effective ways for personalized medicine of potential CVD patients. Our findings suggest that the promotion of a higher CVH score or ideal CVH status would result in reduced burdens of CVD events and extended disease-free life expectancy, which offered an accurate prediction for primary care following the concept of PPPM/3PM.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s13167-023-00322-8.</p>","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"14 2","pages":"185-199"},"PeriodicalIF":6.5,"publicationDate":"2023-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236055/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9584949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Short communication: unique metabolic signature of proliferative retinopathy in the tear fluid of diabetic patients with comorbidities - preliminary data for PPPM validation.","authors":"Martina Kropp,&nbsp;Eline De Clerck,&nbsp;Trong-Tin Kevin Steve Vo,&nbsp;Gabriele Thumann,&nbsp;Vincenzo Costigliola,&nbsp;Olga Golubnitschaja","doi":"10.1007/s13167-023-00318-4","DOIUrl":"https://doi.org/10.1007/s13167-023-00318-4","url":null,"abstract":"&lt;p&gt;&lt;p&gt;Type 2 diabetes (T2DM) defined as the adult-onset type that is primarily not insulin-dependent, comprises over 95% of all diabetes mellitus (DM) cases. According to global records, 537 million adults aged 20-79 years are affected by DM that means at least 1 out of 15 persons. This number is projected to grow by 51% by the year 2045. One of the most common complications of T2DM is diabetic retinopathy (DR) with an overall prevalence over 30%. The total number of the DR-related visual impairments is on the rise, due to the growing T2DM population. Proliferative diabetic retinopathy (PDR) is the progressing DR and leading cause of preventable blindness in working-age adults. Moreover, PDR with characteristic systemic attributes including mitochondrial impairment, increased cell death and chronic inflammation, is an independent predictor of the cascading DM-complications such as ischemic stroke. Therefore, early DR is a reliable predictor appearing upstream of this \"domino effect\". Global screening, leading to timely identification of DM-related complications, is insufficiently implemented by currently applied reactive medicine. A personalised predictive approach and cost-effective targeted prevention shortly - predictive, preventive and personalised medicine (PPPM / 3PM) could make a good use of the accumulated knowledge, preventing blindness and other severe DM complications. In order to reach this goal, reliable stage- and disease-specific biomarker panels are needed characterised by an easy way of the sample collection, high sensitivity and specificity of analyses. In the current study, we tested the hypothesis that non-invasively collected tear fluid is a robust source for the analysis of ocular and systemic (DM-related complications) biomarker patterns suitable for differential diagnosis of stable DR versus PDR. Here, we report the first results of the comprehensive ongoing study, in which we correlate individualised patient profiles (healthy controls versus patients with stable D as well as patients with PDR with and without co-morbidities) with their metabolic profiles in the tear fluid. Comparative mass spectrometric analysis performed has identified following metabolic clusters which are differentially expressed in the groups of comparison: acylcarnitines, amino acid & related compounds, bile acids, ceramides, lysophosphatidyl-choline, nucleobases & related compounds, phosphatidyl-cholines, triglycerides, cholesterol esters, and fatty acids. Our preliminary data strongly support potential clinical utility of metabolic patterns in the tear fluid indicating a unique metabolic signature characteristic for the DR stages and PDR progression. This pilot study creates a platform for validating the tear fluid biomarker patterns to stratify T2DM-patients predisposed to the PDR. Moreover, since PDR is an independent predictor of severe T2DM-related complications such as ischemic stroke, our international project aims to create an analytical pro","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"14 1","pages":"43-51"},"PeriodicalIF":6.5,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944425/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10270713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"New insight of metabolomics in ocular diseases in the context of 3P medicine.","authors":"Quyan Zhang,&nbsp;Nan Wang,&nbsp;Yuhua Rui,&nbsp;Yang Xia,&nbsp;Siqi Xiong,&nbsp;Xiaobo Xia","doi":"10.1007/s13167-023-00313-9","DOIUrl":"https://doi.org/10.1007/s13167-023-00313-9","url":null,"abstract":"<p><p>Metabolomics refers to the high-through untargeted or targeted screening of metabolites in biofluids, cells, and tissues. Metabolome reflects the functional states of cells and organs of an individual, influenced by genes, RNA, proteins, and environment. Metabolomic analyses help to understand the interaction between metabolism and phenotype and reveal biomarkers for diseases. Advanced ocular diseases can lead to vision loss and blindness, reducing patients' quality of life and aggravating socio-economic burden. Contextually, the transition from reactive medicine to the predictive, preventive, and personalized (PPPM / 3P) medicine is needed. Clinicians and researchers dedicate a lot of efforts to explore effective ways for disease prevention, biomarkers for disease prediction, and personalized treatments, by taking advantages of metabolomics. In this way, metabolomics has great clinical utility in the primary and secondary care. In this review, we summarized much progress achieved by applying metabolomics to ocular diseases and pointed out potential biomarkers and metabolic pathways involved to promote 3P medicine approach in healthcare.</p>","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"14 1","pages":"53-71"},"PeriodicalIF":6.5,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971428/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10827493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multi-omics and immune cells' profiling of COVID-19 patients for ICU admission prediction: in silico analysis and an integrated machine learning-based approach in the framework of Predictive, Preventive, and Personalized Medicine.","authors":"Kun Zhu,&nbsp;Zhonghua Chen,&nbsp;Yi Xiao,&nbsp;Dengming Lai,&nbsp;Xiaofeng Wang,&nbsp;Xiangming Fang,&nbsp;Qiang Shu","doi":"10.1007/s13167-023-00317-5","DOIUrl":"https://doi.org/10.1007/s13167-023-00317-5","url":null,"abstract":"<p><strong>Background: </strong>Intensive care unit admission (ICUA) triage has been urgent need for solving the shortage of ICU beds, during the coronavirus disease 2019 (COVID-19) surge. In silico analysis and integrated machine learning (ML) approach, based on multi-omics and immune cells (ICs) profiling, might provide solutions for this issue in the framework of predictive, preventive, and personalized medicine (PPPM).</p><p><strong>Methods: </strong>Multi-omics was used to screen the synchronous differentially expressed protein-coding genes (SDEpcGs), and an integrated ML approach to develop and validate a nomogram for prediction of ICUA. Finally, the independent risk factor (IRF) with ICs profiling of the ICUA was identified.</p><p><strong>Results: </strong>Colony-stimulating factor 1 receptor (CSF1R) and peptidase inhibitor 16 (PI16) were identified as SDEpcGs, and each fold change (FC_ij) of CSF1R and PI16 was selected to develop and validate a nomogram to predict ICUA. The area under curve (AUC) of the nomogram was 0.872 (95% confidence interval (CI): 0.707 to 0.950) on the training set, and 0.822 (95% CI: 0.659 to 0.917) on the testing set. CSF1R was identified as an IRF of ICUA, expressed in and positively correlated with monocytes which had a lower fraction in COVID-19 ICU patients.</p><p><strong>Conclusion: </strong>The nomogram and monocytes could provide added value to ICUA prediction and targeted prevention, which are cost-effective platform for personalized medicine of COVID-19 patients. The log₂fold change (log₂FC) of the fraction of monocytes could be monitored simply and economically in primary care, and the nomogram offered an accurate prediction for secondary care in the framework of PPPM.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s13167-023-00317-5.</p>","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"14 1","pages":"101-117"},"PeriodicalIF":6.5,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9942629/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10828639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to: A nomogram model for the risk prediction of type 2 diabetes in healthy eastern China residents: a 14‑year retrospective cohort study from 15,166 participants.","authors":"Tiancheng Xu,&nbsp;Decai Yu,&nbsp;Weihong Zhou,&nbsp;Lei Yu","doi":"10.1007/s13167-022-00297-y","DOIUrl":"https://doi.org/10.1007/s13167-022-00297-y","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1007/s13167-022-00295-0.].</p>","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"14 1","pages":"183"},"PeriodicalIF":6.5,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971528/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10821326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic accuracy of autoverification and guidance system for COVID-19 RT-PCR results.","authors":"Yingmu Cai,&nbsp;Mengyu Liu,&nbsp;Zhiyuan Wu,&nbsp;Cuihong Tian,&nbsp;Song Qiu,&nbsp;Zhen Li,&nbsp;Feng Xu,&nbsp;Wei Li,&nbsp;Yan Zheng,&nbsp;Aijuan Xu,&nbsp;Longxu Xie,&nbsp;Xuerui Tan","doi":"10.1007/s13167-022-00310-4","DOIUrl":"https://doi.org/10.1007/s13167-022-00310-4","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;To date, most countries worldwide have declared that the pandemic of COVID-19 is over, while the WHO has not officially ended the COVID-19 pandemic, and China still insists on the personalized dynamic COVID-free policy. Large-scale nucleic acid testing in Chinese communities and the manual interpretation for SARS-CoV-2 nucleic acid detection results pose a huge challenge for labour, quality and turnaround time (TAT) requirements. To solve this specific issue while increase the efficiency and accuracy of interpretation, we created an autoverification and guidance system (AGS) that can automatically interpret and report the COVID-19 reverse transcriptase-polymerase chain reaction (RT-PCR) results relaying on computer-based autoverification procedure and then validated its performance in real-world environments. This would be conductive to transmission risk prediction, COVID-19 prevention and control and timely medical treatment for positive patients in the context of the predictive, preventive and personalized medicine (PPPM).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A diagnostic accuracy test was conducted with 380,693 participants from two COVID-19 test sites in China, the Hong Kong Hybribio Medical Laboratory (&lt;i&gt;n&lt;/i&gt; = 266,035) and the mobile medical shelter at a Shanghai airport (&lt;i&gt;n&lt;/i&gt; = 114,658). These participants underwent SARS-CoV-2 RT-PCR from March 28 to April 10, 2022. All RT-PCR results were interpreted by laboratorians and by using AGS simultaneously. Considering the manual interpretation as gold standard, the sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and accuracy were applied to evaluate the diagnostic value of the AGS on the interpretation of RT-PCR results.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Among the 266,035 samples in Hong Kong, there were 16,356 (6.15%) positive, 231,073 (86.86%) negative, 18,606 (6.99%) indefinite, 231,073 (86.86%, negative) no retest required and 34,962 (13.14%, positive and indefinite) retest required; the 114,658 samples in Shanghai consisted of 76 (0.07%) positive, 109,956 (95.90%) negative, 4626 (4.03%) indefinite, 109,956 (95.90%, negative) no retest required and 4702 (4.10%, positive and indefinite) retest required. Compared to the fashioned manual interpretation, the AGS is a procedure of high accuracy [99.96% (95%CI, 99.95-99.97%) in Hong Kong and 100% (95%CI, 100-100%) in Shanghai] with perfect sensitivity [99.98% (95%CI, 99.97-99.98%) in Hong Kong and 100% (95%CI, 100-100%) in Shanghai], specificity [99.87% (95%CI, 99.82-99.90%) in Hong Kong and 100% (95%CI, 99.92-100%) in Shanghai], PPV [99.98% (95%CI, 99.97-99.99%) in Hong Kong and 100% (95%CI, 99.99-100%) in Shanghai] and NPV [99.85% (95%CI, 99.80-99.88%) in Hong Kong and 100% (95%CI, 99.90-100%) in Shanghai]. The need for manual interpretation of total samples was dramatically reduced from 100% to 13.1% and the interpretation time fell from 53 h to 26 min in Hong Kong; while","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"14 1","pages":"119-129"},"PeriodicalIF":6.5,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9755791/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10794430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diabetic retinopathy as the leading cause of blindness and early predictor of cascading complications-risks and mitigation.","authors":"Martina Kropp,&nbsp;Olga Golubnitschaja,&nbsp;Alena Mazurakova,&nbsp;Lenka Koklesova,&nbsp;Nafiseh Sargheini,&nbsp;Trong-Tin Kevin Steve Vo,&nbsp;Eline de Clerck,&nbsp;Jiri Polivka,&nbsp;Pavel Potuznik,&nbsp;Jiri Polivka,&nbsp;Ivana Stetkarova,&nbsp;Peter Kubatka,&nbsp;Gabriele Thumann","doi":"10.1007/s13167-023-00314-8","DOIUrl":"https://doi.org/10.1007/s13167-023-00314-8","url":null,"abstract":"<p><p>Proliferative diabetic retinopathy (PDR) the sequel of diabetic retinopathy (DR), a frequent complication of diabetes mellitus (DM), is the leading cause of blindness in the working-age population. The current screening process for the DR risk is not sufficiently effective such that often the disease is undetected until irreversible damage occurs. Diabetes-associated small vessel disease and neuroretinal changes create a vicious cycle resulting in the conversion of DR into PDR with characteristic ocular attributes including excessive mitochondrial and retinal cell damage, chronic inflammation, neovascularisation, and reduced visual field. PDR is considered an independent predictor of other severe diabetic complications such as ischemic stroke. A \"domino effect\" is highly characteristic for the cascading DM complications in which DR is an early indicator of impaired molecular and visual signaling. Mitochondrial health control is clinically relevant in DR management, and multi-omic tear fluid analysis can be instrumental for DR prognosis and PDR prediction. Altered metabolic pathways and bioenergetics, microvascular deficits and small vessel disease, chronic inflammation, and excessive tissue remodelling are in focus of this article as evidence-based targets for a predictive approach to develop diagnosis and treatment algorithms tailored to the individual for a cost-effective early prevention by implementing the paradigm shift from reactive medicine to predictive, preventive, and personalized medicine (PPPM) in primary and secondary DR care management.</p>","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"14 1","pages":"21-42"},"PeriodicalIF":6.5,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971534/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10816420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}