Phenomics (Cham, Switzerland)最新文献

{"title":"A Meta-Analysis of the Genome-Wide Association Studies on Two Genetically Correlated Phenotypes Suggests Four New Risk Loci for Headaches.","authors":"Weihua Meng, Parminder S Reel, Charvi Nangia, Aravind Lathika Rajendrakumar, Harry L Hebert, Qian Guo, Mark J Adams, Hua Zheng, Zen Haut Lu, Debashree Ray, Lesley A Colvin, Colin N A Palmer, Andrew M McIntosh, Blair H Smith","doi":"10.1007/s43657-022-00078-7","DOIUrl":"10.1007/s43657-022-00078-7","url":null,"abstract":"<p><p>Headache is one of the commonest complaints that doctors need to address in clinical settings. The genetic mechanisms of different types of headache are not well understood while it has been suggested that self-reported headache and self-reported migraine were genetically correlated. In this study, we performed a meta-analysis of genome-wide association studies (GWAS) on the self-reported headache phenotype from the UK Biobank and the self-reported migraine phenotype from the 23andMe using the Unified Score-based Association Test (metaUSAT) software for genetically correlated phenotypes (<i>N</i> = 397,385). We identified 38 loci for headaches, of which 34 loci have been reported before and four loci were newly suggested. The <i>LDL receptor related protein 1</i> (<i>LRP1</i>)-<i>Signal Transducer and Activator of Transcription 6</i> (<i>STAT6</i>)-<i>S</i> <i>hort chain</i> <i>D</i> <i>ehydrogenase</i>/<i>R</i> <i>eductase family 9C member 7</i> (<i>SDR9C7</i>) region in chromosome 12 was the most significantly associated locus with a leading <i>p</i> value of 1.24 × 10^-62 of rs11172113. The <i>One Cut homeobox 2</i> (<i>ONECUT2</i>) gene locus in chromosome 18 was the strongest signal among the four new loci with a <i>p</i> value of 1.29 × 10^-9 of rs673939. Our study demonstrated that the genetically correlated phenotypes of self-reported headache and self-reported migraine can be meta-analysed together in theory and in practice to boost study power to identify more variants for headaches. This study has paved way for a large GWAS meta-analysis involving cohorts of different while genetically correlated headache phenotypes.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-022-00078-7.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"3 1","pages":"64-76"},"PeriodicalIF":3.7,"publicationDate":"2022-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9883337/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9916267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased Soluble Epoxide Hydrolase Activity Positively Correlates with Mortality in Heart Failure Patients with Preserved Ejection Fraction: Evidence from Metabolomics.","authors":"Liyuan Peng, Ziping Song, Chengcheng Zhao, Kudusi Abuduwufuer, Yanwen Wang, Zheng Wen, Li Ni, Chenze Li, Ying Yu, Yi Zhu, Hualiang Jiang, Jinshan Shen, Xiangrui Jiang, Chen Chen, Xu Zhang, Dao Wen Wang","doi":"10.1007/s43657-022-00069-8","DOIUrl":"10.1007/s43657-022-00069-8","url":null,"abstract":"<p><p>Epoxyeicosatrienoic acids (EETs) have pleiotropic endogenous cardiovascular protective effects and can be hydrolyzed to the corresponding dihydroxyeicosatrienoic acids by soluble epoxide hydrolase (sEH). Heart failure with preserved ejection fraction (HFpEF) has shown an increased prevalence and worse prognosis over the decades. However, the role of sEH activity in HFpEF remains unclear. We enrolled 500 patients with HFpEF and 500 healthy controls between February 2010 and March 2016. Eight types of sEH-related eicosanoids were measured according to target metabolomics, and their correlation with clinical endpoints was also analyzed. The primary endpoint was cardiac mortality, and the secondary endpoint was a composite of cardiac events, including heart failure (HF) readmission, cardiogenic hospitalization, and all-cause mortality. Furthermore, the effect of sEH inhibitors on cardiac diastolic function in HFpEF was investigated in vivo and in vitro. Patients with HFpEF showed significantly enhanced EET degradation by the sEH enzyme compared with healthy controls. More importantly, sEH activity was positively correlated with cardiac mortality in patients with HFpEF, especially in older patients with arrhythmia. A consistent result was obtained in the multiple adjusted models. Decreased sEH activity by the sEH inhibitor showed a significant effective effect on the improvement of cardiac diastolic function by ameliorating lipid disorders in cardiomyocytes of HFpEF mouse model. This study demonstrated that increased sEH activity was associated with cardiac mortality in patients with HFpEF and suggested that sEH inhibition could be a promising therapeutic strategy to improve diastolic cardiac function. Clinical trial identifier: NCT03461107 (https://clinicaltrials.gov).</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-022-00069-8.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"3 1","pages":"34-49"},"PeriodicalIF":0.0,"publicationDate":"2022-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9883375/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9147974","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adjustment for the Age- and Gender-Related Metabolic Changes Improves the Differential Diagnosis of Parkinsonism.","authors":"Jiaying Lu, Min Wang, Ping Wu, Igor Yakushev, Huiwei Zhang, Sibylle Ziegler, Jiehui Jiang, Stefan Förster, Jian Wang, Markus Schwaiger, Axel Rominger, Sung-Cheng Huang, Fengtao Liu, Chuantao Zuo, Kuangyu Shi","doi":"10.1007/s43657-022-00079-6","DOIUrl":"10.1007/s43657-022-00079-6","url":null,"abstract":"<p><p>Age and gender are the important factors for brain metabolic declines in both normal aging and neurodegeneration, and the confounding effects may influence early and differential diagnosis of neurodegenerative diseases based on the [¹⁸F]fluorodeoxyglucose positron emission tomography ([¹⁸F]FDG PET). We aimed to explore the potential of the adjustment of age- and gender-related confounding factors on [¹⁸F]FDG PET images in differentiation of Parkinson's disease (PD), multiple system atrophy (MSA) and progressive supra-nuclear palsy (PSP). Eight hundred and seventy-seven clinically definitely diagnosed Parkinsonian patients from a benchmark Huashan Parkinsonian PET imaging database were included. An age- and gender-adjusted Z (AGAZ) score was established based on the gender-specific longitudinal metabolic changes on healthy subjects. AGAZ scores and standardized uptake value ratio (SUVR) values were quantified at regional-level and support vector machine-based error-correcting output codes method was applied for classification. Additional references of the classifications based on metabolic pattern scores were included. The feature-based AGAZ score showed the best performance in classification (accuracy for PD, MSA, PSP: 93.1%, 96.3%, 94.8%). In both genders, the AGAZ score consistently achieved the best efficiency, and the improvements compared to the conventional SUVR value for PD, MSA, and PSP mainly laid in specificity (Male: 5.7%; Female: 11.1%), sensitivity (Male: 7.2%; Female: 7.3%), and sensitivity (Male: 7.3%; Female: 17.2%). Female patients benefited more from the adjustment on [¹⁸F]FDG PET in MSA and PSP groups (absolute net reclassification index, <i>p</i> < 0.001). Collectively, the adjustment of age- and gender-related confounding factors may improve the differential diagnosis of Parkinsonism. Particularly, the diagnosis of female Parkinsonian population has the best improvement from this correction.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-022-00079-6.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"3 1","pages":"50-63"},"PeriodicalIF":0.0,"publicationDate":"2022-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9883378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9516053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dopaminergic Dysfunction and Glucose Metabolism Characteristics in Parkin-Induced Early-Onset Parkinson's Disease Compared to Genetically Undetermined Early-Onset Parkinson's Disease.","authors":"Feng-Tao Liu, Jia-Ying Lu, Yi-Min Sun, Ling Li, Yu-Jie Yang, Jue Zhao, Jing-Jie Ge, Ping Wu, Jie-Hui Jiang, Jian-Jun Wu, Chuan-Tao Zuo, Jian Wang","doi":"10.1007/s43657-022-00077-8","DOIUrl":"10.1007/s43657-022-00077-8","url":null,"abstract":"<p><p>While early-onset Parkinson's disease (EOPD) caused by mutations in the parkin gene (<i>PRKN</i>) tends to have a relatively benign course compared to genetically undetermined (GU)-EOPD, the exact underlying mechanisms remain elusive. We aimed to search for the differences between <i>PRKN</i>-EOPD and GU-EOPD by dopamine transporter (DAT) and glucose metabolism positron-emission-tomography (PET) imaging. Twelve patients with <i>PRKN</i>-EOPD and 16 with GU-EOPD who accepted both ¹¹C-2b-carbomethoxy-3b-(4-trimethylstannylphenyl) tropane (¹¹C-CFT) and ¹⁸F-fluorodeoxyglucose PET were enrolled. The ¹¹C-CFT uptake was analyzed on both regional and voxel levels, whereas glucose metabolism was assessed in a voxel-wise fashion. Correlations between DAT and glucose metabolism imaging, DAT imaging and clinical severity, as well as glucose metabolism imaging and clinical severity were explored. Both clinical symptoms and DAT-binding patterns in the posterior putamen were highly symmetrical in patients with <i>PRKN</i>-EOPD, and dopaminergic dysfunction in the ipsilateral putamen was severer in patients with <i>PRKN</i>-EOPD than GU-EOPD. Meanwhile, the DAT binding was associated with the severity of motor dysfunction in  patients with GU-EOPD only. Patients with <i>PRKN</i>-EOPD showed increased glucose metabolism in the contralateral medial frontal gyrus (supplementary motor area (SMA)), contralateral substantia nigra, contralateral thalamus, and contralateral cerebellum. Notably, glucose metabolic activity in the contralateral medial frontal gyrus was inversely associated with regional DAT binding in the bilateral putamen. Patients with <i>PRKN</i>-EOPD showed enhanced metabolic connectivity within the bilateral putamen, ipsilateral paracentral and precentral lobules, and the ipsilateral SMA. Collectively, compared to GU-EOPD, <i>PRKN</i>-EOPD is characterized by symmetrical, more severe dopaminergic dysfunction and relative increased glucose metabolism. Meanwhile, SMA with elevated glucose metabolism and enhanced connectivity may act as compensatory mechanisms in <i>PRKN</i>-EOPD.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-022-00077-8.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"3 1","pages":"22-33"},"PeriodicalIF":0.0,"publicationDate":"2022-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9883374/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9201564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chinese Medicine Phenomics (Chinmedphenomics): Personalized, Precise and Promising.","authors":"Chunchun Yuan, Weiqiang Zhang, Jing Wang, Chen Huang, Bing Shu, Qianqian Liang, Tingrui Huang, Jiucun Wang, Qi Shi, Dezhi Tang, Yongjun Wang","doi":"10.1007/s43657-022-00074-x","DOIUrl":"10.1007/s43657-022-00074-x","url":null,"abstract":"<p><p>The systematicness of phenomics and Traditional Chinese Medicine (TCM) enable these two disciplines to interlink with each other. This article discussed the similarity in theory and application between TCM and phenomics and illustrates their respective advantages in diagnosis and treatment of diseases, forming a new discipline eventually. Chinese medicine phenomics (Chinmedphenomics) is built on classic TCM, combined with phenomics technology, and the development of which needs the mega cohort with TCM syndrome and the characteristics of precision medicine as well as multi-disciplinary cooperation, which is personalized, precise and promising, providing unique scientific insights into understanding human health.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"2 6","pages":"383-388"},"PeriodicalIF":3.7,"publicationDate":"2022-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712866/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9147976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Causal Association of Cardiac Function by Magnetic Resonance Imaging with Frailty Index: A Mendelian Randomization Study.","authors":"Hui Zhang, Meng Hao, Zixin Hu, Yi Li, Xiaoxi Hu, Xiaoyan Jiang, Zuyun Liu, Xuehui Sun, Xiaofeng Wang","doi":"10.1007/s43657-022-00072-z","DOIUrl":"10.1007/s43657-022-00072-z","url":null,"abstract":"<p><p>Owing to the susceptibility of conventional observational studies to confounding factors and reverse causation, the causal association between cardiac function and frailty is unclear. We aimed to investigate whether cardiac function has causal effects on frailty. In this study, a two-sample Mendelian randomization (MR) study was conducted using genetic variants associated with cardiac function assessed by magnetic resonance imaging phenotypes as instrumental variables. Genetic variants associated with cardiac function by magnetic resonance imaging (including seven cardiac function phenotypes) and the frailty index (FI) were obtained from two large genome-wide association studies. MR estimates from each genetic instrument were combined using inverse variance weighted (IVW), weighted median, and MR‒Egger regression methods. We found that the increase in genetically determined stroke volume (beta - 0.13, 95% CI - 0.16 to - 0.10, <i>p</i> = 1.39E-6), rather than other cardiac phenotypes, was associated with lower FI in MR analysis of IVW after Bonferroni correction. Sensitivity analyses examining potential bias caused by pleiotropy or reverse causality revealed similar findings (e.g., intercept [SE], - 0.008 [0.011], <i>p</i> = 0.47 by MR‒Egger intercept test). The leave-one-out analysis indicated that the association was not driven by single nucleotide polymorphisms. No evidence of heterogeneity was found among the genetic variants (e.g., MR‒Egger: <i>Q</i> statistic = 14.4, <i>p</i> = 0.156). In conclusion, we provided evidence that improved cardiac function could contribute to reducing FI. These findings support the hypothesis that enhancing cardiac function could be an effective prevention strategy for frailty.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-022-00072-z.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"2 6","pages":"430-437"},"PeriodicalIF":0.0,"publicationDate":"2022-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712899/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9500443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Large-Scale Proteomics Data Reveal Integrated Prognosis-Related Protein Signatures and Role of SMAD4 and RAD50 in Prognosis and Immune Infiltrations of Prostate Cancer Microenvironment.","authors":"Aihetaimujiang Anwaier, Shu-Xuan Zhu, Xi Tian, Wen-Hao Xu, Yue Wang, Maierdan Palihati, Wei-Yue Wang, Guo-Hai Shi, Yuan-Yuan Qu, Hai-Liang Zhang, Ding-Wei Ye","doi":"10.1007/s43657-022-00070-1","DOIUrl":"10.1007/s43657-022-00070-1","url":null,"abstract":"<p><p>As prostate cancer (PCa) is one of the most commonly diagnosed cancer worldwide, identifying potential prognostic biomarkers is crucial. In this study, the survival information, gene expression, and protein expression data of 344 PCa cases were collected from the Cancer Proteome Atlas (TCPA) and the Cancer Genome Atlas (TCGA) to investigate the potential prognostic biomarkers. The integrated prognosis-related proteins (IPRPs) model was constructed based on the risk score of each patients using machine-learning algorithm. IPRPs model suggested that Elevated <i>RAD50</i> expression (<i>p</i> = 0.016) and down-regulated <i>SMAD4</i> expression (<i>p</i> = 0.017) were significantly correlated with unfavorable outcomes for PCa patients. Immunohistochemical (IHC) staining and western blot (WB) analysis revealed significant differential expression of <i>SMAD4</i> and <i>RAD50</i> protein between tumor and normal tissues in validation cohort. According to the overall IHC score, patients with low <i>SMAD4</i> (<i>p</i> < 0.0001) expression and high <i>RAD50</i> expression (<i>p</i> = 0.0001) were significantly correlated with poor outcomes. Besides, expression of <i>SMAD4</i> showed significantly negative correlation with most immune checkpoint molecules, and the low <i>SMAD4</i> expression group exhibited significantly high levels of <i>LAG3</i> (<i>p</i> < 0.05), <i>TGFβ</i> (<i>p</i> < 0.001), and <i>PD-L1</i> (<i>p</i> < 0.05) compared with the high <i>SMAD4</i> expression group in the validation cohort. Patients with low <i>SMAD4</i> expression had significantly higher infiltration of memory B cells (<i>p</i> = 0.002), CD8 + T cells (<i>p</i> < 0.001), regulatory T cells (<i>p</i> = 0.006), M2-type macrophages (<i>p</i> < 0.001), and significantly lower infiltration of naïve B cells (<i>p</i> = 0.002), plasma cells (<i>p</i> < 0.001), resting memory CD4 + T cells (<i>p</i> < 0.001) and eosinophils (<i>p</i> = 0.045). Candidate proteins were mainly involved in antigen processing and presentation, stem cell differentiation, and type I interferon pathways.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-022-00070-1.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"2 6","pages":"404-418"},"PeriodicalIF":0.0,"publicationDate":"2022-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712904/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9500440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High-Resolution and Multidimensional Phenotypes Can Complement Genomics Data to Diagnose Diseases in the Neonatal Population.","authors":"Tiantian Xiao, Xinran Dong, Yulan Lu, Wenhao Zhou","doi":"10.1007/s43657-022-00071-0","DOIUrl":"10.1007/s43657-022-00071-0","url":null,"abstract":"<p><p>Advances in genomic medicine have greatly improved our understanding of human diseases. However, phenome is not well understood. High-resolution and multidimensional phenotypes have shed light on the mechanisms underlying neonatal diseases in greater details and have the potential to optimize clinical strategies. In this review, we first highlight the value of analyzing traditional phenotypes using a data science approach in the neonatal population. We then discuss recent research on high-resolution, multidimensional, and structured phenotypes in neonatal critical diseases. Finally, we briefly introduce current technologies available for the analysis of multidimensional data and the value that can be provided by integrating these data into clinical practice. In summary, a time series of multidimensional phenome can improve our understanding of disease mechanisms and diagnostic decision-making, stratify patients, and provide clinicians with optimized strategies for therapeutic intervention; however, the available technologies for collecting multidimensional data and the best platform for connecting multiple modalities should be considered.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"3 2","pages":"204-215"},"PeriodicalIF":0.0,"publicationDate":"2022-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10110825/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9489239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"International Nuclear Medicine Consensus on the Clinical Use of Amyloid Positron Emission Tomography in Alzheimer's Disease.","authors":"Mei Tian,&nbsp;Chuantao Zuo,&nbsp;Ali Cahid Civelek,&nbsp;Ignasi Carrio,&nbsp;Yasuyoshi Watanabe,&nbsp;Keon Wook Kang,&nbsp;Koji Murakami,&nbsp;Valentina Garibotto,&nbsp;John O Prior,&nbsp;Henryk Barthel,&nbsp;Yihui Guan,&nbsp;Jiaying Lu,&nbsp;Rui Zhou,&nbsp;Chentao Jin,&nbsp;Shuang Wu,&nbsp;Xiaohui Zhang,&nbsp;Yan Zhong,&nbsp;Hong Zhang","doi":"10.1007/s43657-022-00068-9","DOIUrl":"10.1007/s43657-022-00068-9","url":null,"abstract":"<p><p>Alzheimer's disease (AD) is the main cause of dementia, with its diagnosis and management remaining challenging. Amyloid positron emission tomography (PET) has become increasingly important in medical practice for patients with AD. To integrate and update previous guidelines in the field, a task group of experts of several disciplines from multiple countries was assembled, and they revised and approved the content related to the application of amyloid PET in the medical settings of cognitively impaired individuals, focusing on clinical scenarios, patient preparation, administered activities, as well as image acquisition, processing, interpretation and reporting. In addition, expert opinions, practices, and protocols of prominent research institutions performing research on amyloid PET of dementia are integrated. With the increasing availability of amyloid PET imaging, a complete and standard pipeline for the entire examination process is essential for clinical practice. This international consensus and practice guideline will help to promote proper clinical use of amyloid PET imaging in patients with AD.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"3 4","pages":"375-389"},"PeriodicalIF":0.0,"publicationDate":"2022-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10425321/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10395631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Low Concordance Between Blood Pressures Measured in Periodic Health Examinations and in a Workplace-Based Hypertension Management Program.","authors":"Jun-Xiang Chen, Yan-Feng Zhou, Tingting Geng, Simiao Chen, Shuohua Chen, Guodong Wang, Yan-Bo Zhang, Yi Wang, Zhou-Zheng Tu, Gang Liu, Shouling Wu, An Pan","doi":"10.1007/s43657-022-00067-w","DOIUrl":"10.1007/s43657-022-00067-w","url":null,"abstract":"<p><p>Poor adherence to standard protocols of blood pressure (BP) measurement in routine clinical practice leads to higher readings than \"research-quality\" measurements. Whether this phenomenon exists in periodic health examinations was unknown. We aimed to explore the concordance between BP measurements in periodic health examinations and those measured following a standard measurement protocol. We used data from the Kailuan Study, an ongoing longitudinal cohort study in China, of which participants received biennial health examinations in health management centers. In addition, BPs were measured following standard protocols in a workplace-based hypertension management program nested in the Kailuan Study. We compared BP readings of the same person between the two settings using generalized linear mixed-effects models. A total of 3988 men (the mean age was 44.9 years) had at least two BP measurements both in health examinations and management program with a time interval between the two settings that less than 90 days. The mean systolic blood pressures (SBP) and diastolic blood pressures (DBP) in health examinations were 4.2 (95% CI 3.9-4.5) mm Hg and 3.3 (95% CI 3.1-3.5) mm Hg higher than those in the management program, respectively. Bland-Altman analyses showed the wide agreement intervals ranging from - 27.7- to 36.5-mm Hg for SBP and - 18.3- to 24.7-mm Hg for DBP. In conclusion, BP measurements in periodic health examinations were generally higher than BPs measured following a standard protocol. Our findings highlight the importance of standard BP measurement to avoid overestimation of hypertension prevalence and treatment initiation.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-022-00067-w.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"2 6","pages":"419-429"},"PeriodicalIF":0.0,"publicationDate":"2022-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712859/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9147973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}