Epma Journal最新文献

{"title":"Vascular dysregulation in glaucoma: retinal vasoconstriction and normal neurovascular coupling in altitudinal visual field defects.","authors":"Wanshu Zhou,&nbsp;Bernhard A Sabel","doi":"10.1007/s13167-023-00316-6","DOIUrl":"https://doi.org/10.1007/s13167-023-00316-6","url":null,"abstract":"<p><strong>Purpose: </strong>Vision loss in glaucoma is not only associated with elevated intraocular pressure and neurodegeneration, but vascular dysregulation (VD) is a major factor. To optimize therapy, an improved understanding of concepts of predictive, preventive, and personalized medicine (3PM) is needed which is based on a more detailed understanding of VD pathology. Specifically, to learn if the root cause of glaucomatous vision loss is of neuronal (degeneration) or vascular origin, we now studied neurovascular coupling (NVC) and vessel morphology and their relationship to vision loss in glaucoma.</p><p><strong>Methods: </strong>In patients with primary open angle glaucoma (POAG) (<i>n</i> = 30) and healthy controls (<i>n</i> = 22), NVC was studied using dynamic vessel analyzer to quantify retinal vessel diameter before, during, and after flicker light stimulation to evaluate the dilation response following neuronal activation. Vessel features and dilation were then related to branch level and visual field impairment.</p><p><strong>Results: </strong>Retinal arterial and venous vessels had significantly smaller diameters in patients with POAG in comparison to controls. However, both arterial and venous dilation reached normal values during neuronal activation despite their smaller diameters. This was largely independent of visual field depth and varied among patients.</p><p><strong>Conclusions: </strong>Because dilation/constriction is normal, VD in POAG can be explained by chronic vasoconstriction which limits energy supply to retinal (and brain) neurons with subsequent hypo-metabolism (\"silent\" neurons) or neuronal cell death. We propose that the root cause of POAG is primarily of vascular and not neuronal origin. This understanding can help to better personalize POAG therapy of not only targeting eye pressure but also vasoconstriction to prevent low vision, slowing its progression and supporting recovery and restoration.</p><p><strong>Trial registration: </strong>ClinicalTrials.gov, # NCT04037384 on July 3, 2019.</p>","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"14 1","pages":"87-99"},"PeriodicalIF":6.5,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971397/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10816422","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":"Microsatellite instability assessment is instrumental for Predictive, Preventive and Personalised Medicine: status quo and outlook.","authors":"Jakub Styk,&nbsp;Zuzana Pös,&nbsp;Ondrej Pös,&nbsp;Jan Radvanszky,&nbsp;Evelina Hrckova Turnova,&nbsp;Gergely Buglyó,&nbsp;Daniela Klimova,&nbsp;Jaroslav Budis,&nbsp;Vanda Repiska,&nbsp;Bálint Nagy,&nbsp;Tomas Szemes","doi":"10.1007/s13167-023-00312-w","DOIUrl":"https://doi.org/10.1007/s13167-023-00312-w","url":null,"abstract":"<p><p>A form of genomic alteration called microsatellite instability (MSI) occurs in a class of tandem repeats (TRs) called microsatellites (MSs) or short tandem repeats (STRs) due to the failure of a post-replicative DNA mismatch repair (MMR) system. Traditionally, the strategies for determining MSI events have been low-throughput procedures that typically require assessment of tumours as well as healthy samples. On the other hand, recent large-scale pan-tumour studies have consistently highlighted the potential of massively parallel sequencing (MPS) on the MSI scale. As a result of recent innovations, minimally invasive methods show a high potential to be integrated into the clinical routine and delivery of adapted medical care to all patients. Along with advances in sequencing technologies and their ever-increasing cost-effectiveness, they may bring about a new era of Predictive, Preventive and Personalised Medicine (3PM). In this paper, we offered a comprehensive analysis of high-throughput strategies and computational tools for the calling and assessment of MSI events, including whole-genome, whole-exome and targeted sequencing approaches. We also discussed in detail the detection of MSI status by current MPS blood-based methods and we hypothesised how they may contribute to the shift from conventional medicine to predictive diagnosis, targeted prevention and personalised medical services. Increasing the efficacy of patient stratification based on MSI status is crucial for tailored decision-making. Contextually, this paper highlights drawbacks both at the technical level and those embedded deeper in cellular/molecular processes and future applications in routine clinical testing.</p>","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"14 1","pages":"143-165"},"PeriodicalIF":6.5,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971410/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10827498","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":"Clarifying sleep characteristics and analyzing risk factors of sleep disorders to promote a predictive, preventive, and personalized medicine in patients with burn scars.","authors":"Huazhen Liu,&nbsp;Futing Shu,&nbsp;Chao Ji,&nbsp;Haiting Xu,&nbsp;Zixuan Zhou,&nbsp;Yuxiang Wang,&nbsp;Haojie Gao,&nbsp;Pengfei Luo,&nbsp;Yongjun Zheng,&nbsp;Kaiyang Lv,&nbsp;Shichu Xiao","doi":"10.1007/s13167-022-00309-x","DOIUrl":"https://doi.org/10.1007/s13167-022-00309-x","url":null,"abstract":"<p><strong>Purpose: </strong>This study assessed sleep quality in patients with burn scars and investigated risk factors of sleep disorders to guide clinical therapy. From the strategy of predictive, preventive, and personalized medicine (PPPM/3PM), we proposed that risk assessment based on clinical indicators could prompt primary prediction, targeted prevention, and personalized interventions to improve the management of sleep disorders present in patients with burn scars.</p><p><strong>Methods: </strong>This retrospective study recruited patients with burn scars and healthy volunteers from the Shanghai Burn Treatment Center between 2017 and 2022. Relevant information and data, including demographic characteristics, scar evaluation, and sleep quality, were obtained through the hospital information system, classical scar scale, and self-report questionnaires. Sleep quality was assessed using the Pittsburgh Sleep Quality Index (PSQI) and monitored using a cardiopulmonary-coupled electrocardiograph. Pain and pruritus were assessed using the visual analog scale (VAS). Scar appearance was assessed using the modified Vancouver scar scale (mVSS).</p><p><strong>Results: </strong>The sample was comprised of 128 hypertrophic scar (HS) patients, with 61.7% males, a mean age of 41.1 ± 11.6 years, and burn area of 46.2 ± 27.9% total body surface area (TBSA). Patients with PSQI ≥ 7 accounted for 76.6%, and the global PSQI score was 9.4 ± 4.1. Objective sleep data showed that initial enter deep sleep time, light sleep time, awakening time, light sleep efficiency, and sleep apnea index were higher but deep sleep time, sleep efficiency, and deep sleep efficiency were lower in HS patients than that in healthy controls. Preliminary univariate analysis showed that age, hyperplasia time of scar, narrow airway, microstomia, VAS for pain and pruritus, and mVSS total (comprised of pigmentation, vascularity, height and pliability) were associated with the PSQI score (<i>p</i> < 0.1). Multivariable linear regression showed narrow airway, VAS for pain and pruritus, and mVSS specifically height, were the risk factors for PSQI score (<i>p</i> < 0.1).</p><p><strong>Conclusions: </strong>This study model identified that narrow airway, pain, pruritus and scar appearance specifically height may provide excellent predictors for sleep disorders in HS patients. Our results provided a basis for the predictive diagnostics, targeted prevention, and individualized therapy of somnipathy predisposition and progression of HS patients in the setting of PPPM/3PM health care system, which contributed to a paradigm shift from reactive cure to advanced therapy.</p>","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"14 1","pages":"131-142"},"PeriodicalIF":6.5,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9838372/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10798951","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":"Integrating oculomics with genomics reveals imaging biomarkers for preventive and personalized prediction of arterial aneurysms.","authors":"Yu Huang,&nbsp;Cong Li,&nbsp;Danli Shi,&nbsp;Huan Wang,&nbsp;Xianwen Shang,&nbsp;Wei Wang,&nbsp;Xueli Zhang,&nbsp;Xiayin Zhang,&nbsp;Yijun Hu,&nbsp;Shulin Tang,&nbsp;Shunming Liu,&nbsp;Songyuan Luo,&nbsp;Ke Zhao,&nbsp;Ify R Mordi,&nbsp;Alex S F Doney,&nbsp;Xiaohong Yang,&nbsp;Honghua Yu,&nbsp;Xin Li,&nbsp;Mingguang He","doi":"10.1007/s13167-023-00315-7","DOIUrl":"https://doi.org/10.1007/s13167-023-00315-7","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;Arterial aneurysms are life-threatening but usually asymptomatic before requiring hospitalization. Oculomics of retinal vascular features (RVFs) extracted from retinal fundus images can reflect systemic vascular properties and therefore were hypothesized to provide valuable information on detecting the risk of aneurysms. By integrating oculomics with genomics, this study aimed to (i) identify predictive RVFs as imaging biomarkers for aneurysms and (ii) evaluate the value of these RVFs in supporting early detection of aneurysms in the context of predictive, preventive and personalized medicine (PPPM).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This study involved 51,597 UK Biobank participants who had retinal images available to extract oculomics of RVFs. Phenome-wide association analyses (PheWASs) were conducted to identify RVFs associated with the genetic risks of the main types of aneurysms, including abdominal aortic aneurysm (AAA), thoracic aneurysm (TAA), intracranial aneurysm (ICA) and Marfan syndrome (MFS). An aneurysm-RVF model was then developed to predict future aneurysms. The performance of the model was assessed in both derivation and validation cohorts and was compared with other models employing clinical risk factors. An RVF risk score was derived from our aneurysm-RVF model to identify patients with an increased risk of aneurysms.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;PheWAS identified a total of 32 RVFs that were significantly associated with the genetic risks of aneurysms. Of these, the number of vessels in the optic disc ('ntreeA') was associated with both AAA (&lt;i&gt;β&lt;/i&gt; = -0.36, &lt;i&gt;P&lt;/i&gt; = 6.75e-10) and ICA (&lt;i&gt;β&lt;/i&gt; = -0.11, &lt;i&gt;P&lt;/i&gt; = 5.51e-06). In addition, the mean angles between each artery branch ('curveangle_mean_a') were commonly associated with 4 MFS genes (&lt;i&gt;FBN1&lt;/i&gt;: &lt;i&gt;β&lt;/i&gt; = -0.10, &lt;i&gt;P&lt;/i&gt; = 1.63e-12; &lt;i&gt;COL16A1&lt;/i&gt;: &lt;i&gt;β&lt;/i&gt; = -0.07, &lt;i&gt;P&lt;/i&gt; = 3.14e-09; &lt;i&gt;LOC105373592&lt;/i&gt;: &lt;i&gt;β&lt;/i&gt; = -0.06, &lt;i&gt;P&lt;/i&gt; = 1.89e-05; &lt;i&gt;C8orf81/LOC441376&lt;/i&gt;: &lt;i&gt;β&lt;/i&gt; = 0.07, &lt;i&gt;P&lt;/i&gt; = 1.02e-05). The developed aneurysm-RVF model showed good discrimination ability in predicting the risks of aneurysms. In the derivation cohort, the &lt;i&gt;C&lt;/i&gt;-index of the aneurysm-RVF model was 0.809 [95% CI: 0.780-0.838], which was similar to the clinical risk model (0.806 [0.778-0.834]) but higher than the baseline model (0.739 [0.733-0.746]). Similar performance was observed in the validation cohort, with a &lt;i&gt;C&lt;/i&gt;-index of 0.798 (0.727-0.869) for the aneurysm-RVF model, 0.795 (0.718-0.871) for the clinical risk model and 0.719 (0.620-0.816) for the baseline model. An aneurysm risk score was derived from the aneurysm-RVF model for each study participant. The individuals in the upper tertile of the aneurysm risk score had a significantly higher risk of aneurysm compared to those in the lower tertile (hazard ratio = 17.8 [6.5-48.8], &lt;i&gt;P&lt;/i&gt; = 1.02e-05).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;We identified a significant association between ","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"14 1","pages":"73-86"},"PeriodicalIF":6.5,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971392/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10816421","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":"Association of IgG N-glycomics with prevalent and incident type 2 diabetes mellitus from the paradigm of predictive, preventive, and personalized medicine standpoint.","authors":"Xiaoni Meng, Fei Wang, Xiangyang Gao, Biyan Wang, Xizhu Xu, Youxin Wang, Wei Wang, Qiang Zeng","doi":"10.1007/s13167-022-00311-3","DOIUrl":"10.1007/s13167-022-00311-3","url":null,"abstract":"<p><strong>Objectives: </strong>Type 2 diabetes mellitus (T2DM), a major metabolic disorder, is expanding at a rapidly rising worldwide prevalence and has emerged as one of the most common chronic diseases. Suboptimal health status (SHS) is considered a reversible intermediate state between health and diagnosable disease. We hypothesized that the time frame between the onset of SHS and the clinical manifestation of T2DM is the operational area for the application of reliable risk assessment tools, such as immunoglobulin G (IgG) N-glycans. From the viewpoint of predictive, preventive, and personalized medicine (PPPM/3PM), the early detection of SHS and dynamic monitoring by glycan biomarkers could provide a window of opportunity for targeted prevention and personalized treatment of T2DM.</p><p><strong>Methods: </strong>Case-control and nested case-control studies were performed and consisted of 138 and 308 participants, respectively. The IgG N-glycan profiles of all plasma samples were detected by an ultra-performance liquid chromatography instrument.</p><p><strong>Results: </strong>After adjustment for confounders, 22, five, and three IgG N-glycan traits were significantly associated with T2DM in the case-control setting, baseline SHS, and baseline optimal health participants from the nested case-control setting, respectively. Adding the IgG N-glycans to the clinical trait models, the average area under the receiver operating characteristic curves (AUCs) of the combined models based on repeated 400 times fivefold cross-validation differentiating T2DM from healthy individuals were 0.807 in the case-control setting and 0.563, 0.645, and 0.604 in the pooled samples, baseline SHS, and baseline optimal health samples of nested case-control setting, respectively, which presented moderate discriminative ability and were generally better than models with either glycans or clinical features alone.</p><p><strong>Conclusions: </strong>This study comprehensively illustrated that the observed altered IgG N-glycosylation, i.e., decreased galactosylation and fucosylation/sialylation without bisecting GlcNAc, as well as increased galactosylation and fucosylation/sialylation with bisecting GlcNAc, reflects a pro-inflammatory state of T2DM. SHS is an important window period of early intervention for individuals at risk for T2DM; glycomic biosignatures as dynamic biomarkers have the ability to identify populations at risk for T2DM early, and the combination of evidence could provide suggestive ideas and valuable insight for the PPPM of T2DM.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s13167-022-00311-3.</p>","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"14 1","pages":"1-20"},"PeriodicalIF":6.5,"publicationDate":"2022-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971369/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10816419","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":"Global burden of cancers attributable to tobacco smoking, 1990-2019: an ecological study.","authors":"Rajesh Sharma, Bijoy Rakshit","doi":"10.1007/s13167-022-00308-y","DOIUrl":"10.1007/s13167-022-00308-y","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Aim and background: &lt;/strong&gt;Identifying risk factors for cancer initiation and progression is the cornerstone of the preventive approach to cancer management and control (EPMA J. 4(1):6, 2013). Tobacco smoking is a well-recognized risk factor for initiation and spread of several cancers. The predictive, preventive, and personalized medicine (PPPM) approach to cancer management and control focuses on smoking cessation as an essential cancer prevention strategy. Towards this end, this study examines the temporal patterns of cancer burden due to tobacco smoking in the last three decades at global, regional, and national levels.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Data and methods: &lt;/strong&gt;The data pertaining to the burden of 16 cancers attributable to tobacco smoking at global, regional, and national levels were procured from the Global Burden of Disease 2019 Study. Two main indicators, deaths and disability-adjusted life years (DALYs), were used to describe the burden of cancers attributable to tobacco smoking. The socio-economic development of countries was measured using the socio-demographic index (SDI).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Globally, deaths due to neoplasms caused by tobacco smoking increased from 1.5 million in 1990 to 2.5 million in 2019, whereas the age-standardized mortality rate (ASMR) decreased from 39.8/100,000 to 30.6/100,000 and the age-standardized DALY rate (ASDALR) decreased from 948.9/100,000 to 677.3/100,000 between 1990 and 2019. Males accounted for approximately 80% of global deaths and DALYs in 2019. Populous regions of Asia and a few regions of Europe account for the largest absolute burden, whereas countries in Europe and America have the highest age-standardized rates of cancers due to tobacco smoking. In 8 out of 21 regions, there were more than 100,000 deaths due to cancers attributable to tobacco smoking led by East Asia, followed by Western Europe in 2019. The regions of Sub-Saharan Africa (except southern region) had one of the lowest absolute counts of deaths, DALYs, and age-standardized rates. In 2019, tracheal, bronchus, and lung (TBL), esophageal, stomach, colorectal, and pancreatic cancer were the top 5 neoplasms attributable to tobacco smoking, with different burdens in regions as per their development status. The ASMR and ASDALR of neoplasms due to tobacco smoking were positively correlated with SDI, with pairwise correlation coefficient of 0.55 and 0.52, respectively.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;As a preventive tool, tobacco smoking cessation has the biggest potential among all risk factors for preventing millions of cancer deaths every year. Cancer burden due to tobacco smoking is found to be higher in males and is positively associated with socio-economic development of countries. As tobacco smoking begins mostly at younger ages and the epidemic is unfolding in several parts of the world, more accelerated efforts are required towards tobacco cessation and preventing youth from entering this addiction.","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"14 1","pages":"167-182"},"PeriodicalIF":6.5,"publicationDate":"2022-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971393/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10827496","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":"Body mass index-based predictions and personalized clinical strategies for colorectal cancer in the context of PPPM.","authors":"Yun-Jia Gu,&nbsp;Li-Ming Chen,&nbsp;Mu-En Gu,&nbsp;Hong-Xiao Xu,&nbsp;Jing Li,&nbsp;Lu-Yi Wu","doi":"10.1007/s13167-022-00306-0","DOIUrl":"https://doi.org/10.1007/s13167-022-00306-0","url":null,"abstract":"<p><p>Currently colorectal cancer (CRC) is the third most prevalent cancer worldwide. Body mass index (BMI) is frequently used in CRC screening and risk assessment to quantitatively evaluate weight. However, the impact of BMI on clinical strategies for CRC has received little attention. Within the framework of the predictive, preventive, and personalized medicine (3PM/PPPM), we hypothesized that BMI stratification would affect the primary, secondary, and tertiary care options for CRC and we conducted a critical evidence-based review. BMI dynamically influences CRC outcomes, which helps avoiding adverse treatment effects. The outcome of surgical and radiation treatment is adversely affected by overweight (BMI ≥ 30) or underweight (BMI < 20). A number of interventions, such as enhanced recovery after surgery and robotic surgery, can be applied to CRC at all levels of BMI. BMI-controlling modalities such as exercise, diet control, nutritional therapy, and medications may be potentially beneficial for patients with CRC. Patients with overweight are advised to lose weight through diet, medication, and physical activity while patients suffering of underweight require more focus on nutrition. BMI assists patients with CRC in better managing their weight, which decreases the incidence of adverse prognostic events during treatment. BMI is accessible, noninvasive, and highly predictive of clinical outcomes in CRC. The cost-benefit of the PPPM paradigm in developing countries can be advanced, and the clinical benefit for patients can be improved with the promotion of BMI-based clinical strategy models for CRC.</p>","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"13 4","pages":"615-632"},"PeriodicalIF":6.5,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9727065/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10698431","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":"Mutual effect of homocysteine and uric acid on arterial stiffness and cardiovascular risk in the context of predictive, preventive, and personalized medicine.","authors":"Zhiyuan Wu,&nbsp;Haiping Zhang,&nbsp;Zhiwei Li,&nbsp;Haibin Li,&nbsp;Xinlei Miao,&nbsp;Huiying Pan,&nbsp;Jinqi Wang,&nbsp;Xiangtong Liu,&nbsp;Xiaoping Kang,&nbsp;Xia Li,&nbsp;Lixin Tao,&nbsp;Xiuhua Guo","doi":"10.1007/s13167-022-00298-x","DOIUrl":"https://doi.org/10.1007/s13167-022-00298-x","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Arterial stiffness is a major risk factor and effective predictor of cardiovascular diseases and a common pathway of pathological vascular impairments. Homocysteine (Hcy) and uric acid (UA) own the shared metabolic pathways to affect vascular function. Serum uric acid (UA) has a great impact on arterial stiffness and cardiovascular risk, while the mutual effect with Hcy remains unknown yet. This study aimed to evaluate the mutual effect of serum Hcy and UA on arterial stiffness and 10-year cardiovascular risk in the general population. From the perspective of predictive, preventive, and personalized medicine (PPPM/3PM), we assumed that combined assessment of Hcy and UA provides a better tool for targeted prevention and personalized intervention of cardiovascular diseases via suppressing arterial stiffness.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This study consisted of 17,697 participants from Beijing Health Management Cohort, who underwent health examination between January 2012 and December 2019. Brachial-ankle pulse wave velocity (baPWV) was used as an index of arterial stiffness.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Individuals with both high Hcy and UA had the highest baPWV, compared with those with low Hcy and low UA (&lt;i&gt;β&lt;/i&gt;: 30.76, 95% CI: 18.36-43.16 in males; &lt;i&gt;β&lt;/i&gt;: 53.53, 95% CI: 38.46-68.60 in females). In addition, these individuals owned the highest 10-year cardiovascular risk (OR: 1.49, 95% CI: 1.26-1.76 in males; OR: 7.61, 95% CI: 4.63-12.68 in females). Of note, males with high homocysteine and low uric acid were significantly associated with increased cardiovascular risk (OR: 1.30, 95% CI: 1.15-1.47), but not the high uric acid and low homocysteine group (OR: 1.02, 95% CI: 0.90-1.16).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;This study found the significantly mutual effect of Hcy and UA on arterial stiffness and cardiovascular risk using a large population and suggested the clinical importance of combined evaluation and control of Hcy and UA for promoting cardiovascular health. The adverse effect of homocysteine on arteriosclerosis should be addressed beyond uric acid, especially for males. Monitoring of the level of both Hcy and UA provides a window opportunity for PPPM/3PM in the progression of arterial stiffness and prevention of CVD. Hcy provides a novel predictor beyond UA of cardiovascular health to identify individuals at high risk of arterial stiffness for the primary prevention and early treatment of CVD. In the progressive stage of arterial stiffness, active control of Hcy and UA levels from the aspects of dietary behavior and medication treatment is conducive to alleviating the level of arterial stiffness and reducing the risk of CVD. Further studies are needed to evaluate the clinical effect of Hcy and UA targeted intervention on arterial stiffness and cardiovascular health.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Supplementary information: &lt;/strong&gt;The online version contains supplementary material available at 10.1007/s131","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"13 4","pages":"581-595"},"PeriodicalIF":6.5,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9727018/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10332391","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":"Radiomics based on readout-segmented echo-planar imaging (RS-EPI) diffusion-weighted imaging (DWI) for prognostic risk stratification of patients with rectal cancer: a two-centre, machine learning study using the framework of predictive, preventive, and personalized medicine.","authors":"Zonglin Liu,&nbsp;Yueming Wang,&nbsp;Fu Shen,&nbsp;Zhiyuan Zhang,&nbsp;Jing Gong,&nbsp;Caixia Fu,&nbsp;Changqing Shen,&nbsp;Rong Li,&nbsp;Guodong Jing,&nbsp;Sanjun Cai,&nbsp;Zhen Zhang,&nbsp;Yiqun Sun,&nbsp;Tong Tong","doi":"10.1007/s13167-022-00303-3","DOIUrl":"https://doi.org/10.1007/s13167-022-00303-3","url":null,"abstract":"<p><strong>Background: </strong>Currently, the rate of recurrence or metastasis (ROM) remains high in rectal cancer (RC) patients treated with the standard regimen. The potential of diffusion-weighted imaging (DWI) in predicting ROM risk has been reported, but the efficacy is insufficient.</p><p><strong>Aims: </strong>This study investigated the potential of a new sequence called readout-segmented echo-planar imaging (RS-EPI) DWI in predicting the ROM risk of patients with RC using machine learning methods to achieve the principle of predictive, preventive, and personalized medicine (PPPM) application in RC treatment.</p><p><strong>Methods: </strong>A total of 195 RC patients from two centres who directly received total mesorectal excision were retrospectively enrolled in our study. Machine learning methods, including recursive feature elimination (RFE), the synthetic minority oversampling technique (SMOTE), and the support vector machine (SVM) classifier, were used to construct models based on clinical-pathological factors (clinical model), radiomic features from RS-EPI DWI (radiomics model), and their combination (merged model). The Harrell concordance index (C-index) and the area under the time-dependent receiver operating characteristic curve (AUC) were calculated to evaluate the predictive performance at 1 year, 3 years, and 5 years. Kaplan‒Meier analysis was performed to evaluate the ability to stratify patients according to the risk of ROM.</p><p><strong>Findings: </strong>The merged model performed well in predicting tumour ROM in patients with RC at 1 year, 3 years, and 5 years in both cohorts (AUC = 0.887/0.813/0.794; 0.819/0.795/0.783) and was significantly superior to the clinical model (AUC = 0.87 [95% CI: 0.80-0.93] vs. 0.71 [95% CI: 0.59-0.81], <i>p</i> = 0.009; C-index = 0.83 [95% CI: 0.76-0.90] vs. 0.68 [95% CI: 0.56-0.79], <i>p</i> = 0.002). It also had a significant ability to differentiate patients with a high and low risk of ROM (HR = 12.189 [95% CI: 4.976-29.853], <i>p</i> < 0.001; HR = 6.427 [95% CI: 2.265-13.036], <i>p</i> = 0.002).</p><p><strong>Conclusion: </strong>Our developed merged model based on RS-EPI DWI accurately predicted and effectively stratified patients with RC according to the ROM risk at an early stage with an individualized profile, which may be able to assist physicians in individualizing the treatment protocols and promote a meaningful paradigm shift in RC treatment from traditional reactive medicine to PPPM.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s13167-022-00303-3.</p>","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"13 4","pages":"633-647"},"PeriodicalIF":6.5,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9727035/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10332384","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":"Ischemic stroke of unclear aetiology: a case-by-case analysis and call for a multi-professional predictive, preventive and personalised approach.","authors":"Olga Golubnitschaja,&nbsp;Pavel Potuznik,&nbsp;Jiri Polivka,&nbsp;Martin Pesta,&nbsp;Olga Kaverina,&nbsp;Claus C Pieper,&nbsp;Martina Kropp,&nbsp;Gabriele Thumann,&nbsp;Carl Erb,&nbsp;Alexander Karabatsiakis,&nbsp;Ivana Stetkarova,&nbsp;Jiri Polivka,&nbsp;Vincenzo Costigliola","doi":"10.1007/s13167-022-00307-z","DOIUrl":"https://doi.org/10.1007/s13167-022-00307-z","url":null,"abstract":"&lt;p&gt;&lt;p&gt;Due to the reactive medical approach applied to disease management, stroke has reached an epidemic scale worldwide. In 2019, the global stroke prevalence was 101.5 million people, wherefrom 77.2 million (about 76%) suffered from ischemic stroke; 20.7 and 8.4 million suffered from intracerebral and subarachnoid haemorrhage, respectively. Globally in the year 2019 - 3.3, 2.9 and 0.4 million individuals died of ischemic stroke, intracerebral and subarachnoid haemorrhage, respectively. During the last three decades, the absolute number of cases increased substantially. The current prevalence of stroke is 110 million patients worldwide with more than 60% below the age of 70 years. Prognoses by the World Stroke Organisation are pessimistic: globally, it is predicted that 1 in 4 adults over the age of 25 will suffer stroke in their lifetime. Although age is the best known contributing factor, over 16% of all strokes occur in teenagers and young adults aged 15-49 years and the incidence trend in this population is increasing. The corresponding socio-economic burden of stroke, which is the leading cause of disability, is enormous. Global costs of stroke are estimated at 721 billion US dollars, which is 0.66% of the global GDP. Clinically manifested strokes are only the \"tip of the iceberg\": it is estimated that the total number of stroke patients is about 14 times greater than the currently applied reactive medical approach is capable to identify and manage. Specifically, lacunar stroke (LS), which is characteristic for silent brain infarction, represents up to 30% of all ischemic strokes. Silent LS, which is diagnosed mainly by routine health check-up and autopsy in individuals without stroke history, has a reported prevalence of silent brain infarction up to 55% in the investigated populations. To this end, silent brain infarction is an independent predictor of ischemic stroke. Further&lt;b&gt;,&lt;/b&gt; small vessel disease and silent lacunar brain infarction are considered strong contributors to cognitive impairments, dementia, depression and suicide, amongst others in the general population. In sub-populations such as diabetes mellitus type 2, proliferative diabetic retinopathy is an independent predictor of ischemic stroke. According to various statistical sources, cryptogenic strokes account for 15 to 40% of the entire stroke incidence. The question to consider here is, whether a cryptogenic stroke is fully referable to unidentifiable aetiology or rather to underestimated risks. Considering the latter, translational research might be of great clinical utility to realise innovative predictive and preventive approaches, potentially benefiting high risk individuals and society at large. In this position paper, the consortium has combined multi-professional expertise to provide clear statements towards the paradigm change from reactive to predictive, preventive and personalised medicine in stroke management, the crucial elements of which are:Consolidation o","PeriodicalId":54292,"journal":{"name":"Epma Journal","volume":"13 4","pages":"535-545"},"PeriodicalIF":6.5,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9670046/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10736925","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}