Precision Clinical Medicine最新文献

{"title":"Overexpressed miR-539 exacerbates <i>Pseudomonas aeruginosa</i> puenmonia by promoting inflammatory responses.","authors":"Jianbo Li,&nbsp;Qi Yang,&nbsp;Xinghong Gao,&nbsp;Feng Chen,&nbsp;Xinxia Gu,&nbsp;Xikun Zhou,&nbsp;Lei Chen,&nbsp;Jie Liu,&nbsp;Min Wu","doi":"10.1093/pcmedi/pbad012","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad012","url":null,"abstract":"Pseudomonas aeruginosa is an opportunistic Gr am-negativ e bac-terium that causes a series of life-threatening acute and/or c hr onic infections in humans, often in persons with immunode-ficiency . P . aeruginosa has been listed as one of the priority bacteria that r equir es extensiv e r esearc h and ur gent de v elopment of new antibiotic treatments by the World Health Organization ( WHO ) in 2017. 1 In r ecent years, numer ous studies have shown that miRNAs play an important role in infection and inflammatory responses. 2 , 3 Our earlier r esearc hes suggest that miRNAs are a k e y regulator of","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"6 2","pages":"pbad012"},"PeriodicalIF":5.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0d/3b/pbad012.PMC10273829.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9716788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigating association between gut microbiota and sarcopenia-related traits: a Mendelian randomization study.","authors":"Jiaxi Zhao,&nbsp;Rui Liang,&nbsp;Quhong Song,&nbsp;Shiyu Song,&nbsp;Jirong Yue,&nbsp;Chenkai Wu","doi":"10.1093/pcmedi/pbad010","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad010","url":null,"abstract":"<p><strong>Background: </strong>Observational studies have indicated a potential link between gut microbiota and sarcopenia. However, the underlying mechanisms and a causal relationship have not been established. Thus, the objective of this study is to examine the possible causal association between gut microbiota and sarcopenia-related traits, including low hand-grip strength and appendicular lean mass (ALM), to shed light on the gut-muscle axis.</p><p><strong>Methods: </strong>To investigate the potential impact of gut microbiota on low hand-grip strength and ALM, we utilized a two-sample Mendelian randomization (MR) approach. Summary statistics were obtained from genome-wide association studies of gut microbiota, low hand-grip strength, and ALM. The primary MR analysis employed the random-effects inverse-variance weighted (IVW) method. To assess the robustness, we conducted sensitivity analyses using the MR pleiotropy residual sum and outlier (MR-PRESSO) test to detect and correct for horizontal pleiotropy, as well as the MR-Egger intercept test and leave-one-out analysis.</p><p><strong>Results: </strong><i>Alcaligenaceae, Family XIII</i>, and <i>Paraprevotella</i> were positively associated with the risk of low hand-grip strength (<i>P</i>-values < 0.05). <i>Streptococcaceae</i> were negatively associated with low hand-grip strength (<i>P</i>-values < 0.05). Eight bacterial taxa (<i>Actinomycetales, Actinomycetaceae, Bacteroidaceae, Porphyromonadaceae, Prevotellaceae, Bacteroides, Marvinbryantia</i>, and <i>Phascolarctobacterium)</i> were associated with a higher risk of ALM (<i>P</i>-values < 0.05). <i>Eubacterium fissicatena</i> group was negatively associated with ALM (<i>P</i>-values < 0.05).</p><p><strong>Conclusion: </strong>We found several gut microbiota components causally associated with sarcopenia-related traits. Our findings provided insights into novel strategies for the prevention and treatment of sarcopenia through the regulation of the gut microbiota, contributing to a better understanding of the gut-muscle axis.</p>","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"6 2","pages":"pbad010"},"PeriodicalIF":5.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1e/47/pbad010.PMC10263384.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9656055","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic factors for differentiated thyroid cancer in French Polynesia: new candidate loci.","authors":"Monia Zidane,&nbsp;Marc Haber,&nbsp;Thérèse Truong,&nbsp;Frédérique Rachédi,&nbsp;Catherine Ory,&nbsp;Sylvie Chevillard,&nbsp;Hélène Blanché,&nbsp;Robert Olaso,&nbsp;Anne Boland,&nbsp;Éric Conte,&nbsp;Mojgan Karimi,&nbsp;Yan Ren,&nbsp;Constance Xhaard,&nbsp;Vincent Souchard,&nbsp;Jacques Gardon,&nbsp;Marc Taquet,&nbsp;André Bouville,&nbsp;Jean-François Deleuze,&nbsp;Vladimir Drozdovitch,&nbsp;Florent de Vathaire,&nbsp;Jean-Baptiste Cazier","doi":"10.1093/pcmedi/pbad015","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad015","url":null,"abstract":"<p><strong>Background: </strong>Populations of French Polynesia (FP), where France performed atmospheric tests between 1966 and 1974, experience a high incidence of differentiated thyroid cancer (DTC). However, up to now, no sufficiently large study of DTC genetic factors in this population has been performed to reach definitive conclusion. This research aimed to analyze the genetic factors of DTC risk among the native FP populations.</p><p><strong>Methods: </strong>We analyzed more than 300 000 single nucleotide polymorphisms (SNPs) genotyped in 283 DTC cases and 418 matched controls born in FP, most being younger than 15 years old at the time of the first nuclear tests. We analyzed the genetic profile of our cohort to identify population subgroups. We then completed a genome-wide analysis study on the whole population.</p><p><strong>Results: </strong>We identified a specific genetic structure in the FP population reflecting admixture from Asian and European populations. We identified three regions associated with increased DTC risk at 6q24.3, 10p12.2, and 17q21.32. The lead SNPs at these loci showed respective p-values of 1.66 × 10^-7, 2.39 × 10^-7, and 7.19 × 10^-7 and corresponding odds ratios of 2.02, 1.89, and 2.37.</p><p><strong>Conclusion: </strong>Our study results suggest a role of the loci 6q24.3, 10p12.2 and 17q21.32 in DTC risk. However, a whole genome sequencing approach would be better suited to characterize these factors than genotyping with microarray chip designed for the Caucasian population. Moreover, the functional impact of these three new loci needs to be further explored and validated.</p>","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"6 2","pages":"pbad015"},"PeriodicalIF":5.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10294640/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9735912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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: New treatment for osteoarthritis: Gene therapy.","authors":"","doi":"10.1093/pcmedi/pbad016","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad016","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1093/pcmedi/pbad014.].</p>","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"6 2","pages":"pbad016"},"PeriodicalIF":5.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/df/ed/pbad016.PMC10294634.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10201091","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Partial treatment response to alectinib in metastatic non-small cell lung cancer with KIDINS220-ALK fusion.","authors":"Yanna Lei,&nbsp;Shasha Zeng,&nbsp;Xiaoyu Li,&nbsp;Pei Shu,&nbsp;Weiya Wang,&nbsp;Yongsheng Wang","doi":"10.1093/pcmedi/pbad011","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad011","url":null,"abstract":"1 Division of Thoracic Tumor Multimodality Treatment, Cancer Center, West China Hospital, Sichuan University, Chengdu 610041, China 2 Clinical Trial Center , NMP A Key Laboratory for Clinical Research and Evaluation of Innovative Drugs, West China Hospital, Sichuan University, Chengdu 610041, China 3 State Key Laboratory of Biotherapy, Sichuan University, Chengdu 610041, China 4 Department of Pathology, West China Hospital, Sichuan University, Chengdu 610041, China ∗Correspondence: Yongsheng Wang, wangys@scu.edu.cn §Yanna Lei and Shasha Zeng contributed equally to this work.","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"6 2","pages":"pbad011"},"PeriodicalIF":5.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1b/d7/pbad011.PMC10251428.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9612330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of age and tumor size on the development of the Kasabach-Merritt phenomenon in patients with kaposiform hemangioendothelioma: a retrospective cohort study.","authors":"Jiangyuan Zhou,&nbsp;Yuru Lan,&nbsp;Tong Qiu,&nbsp;Xue Gong,&nbsp;Zixin Zhang,&nbsp;Chunshui He,&nbsp;Qiang Peng,&nbsp;Fan Hu,&nbsp;Xuepeng Zhang,&nbsp;Guoyan Lu,&nbsp;Liqing Qiu,&nbsp;Feiteng Kong,&nbsp;Yongbo Zhang,&nbsp;Siyuan Chen,&nbsp;Yi Ji","doi":"10.1093/pcmedi/pbad008","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad008","url":null,"abstract":"<p><strong>Introduction: </strong>The Kasabach-Merritt phenomenon (KMP) is a severe complication of kaposiform hemangioendothelioma (KHE). The risk factors for KMP need further investigation.</p><p><strong>Methods: </strong>The medical records of patients with KHE were reviewed. Univariate and multivariate logistic regression models were used for the risk factors for KMP, and the area under the receiver operator characteristic (ROC) curve was used to assess the predictive power of risk factors.</p><p><strong>Results: </strong>A total of 338 patients with KHE were enrolled. The incidence of KMP was 45.9%. Age of onset (<i>P</i> < 0.001, odds ratio [OR] 0.939; 95% confidence interval [CI] 0.914-0.966), lesion size (<i>P</i> < 0.001, OR 1.944; 95% CI 1.646-2.296), mixed type (<i>P</i> = 0.030, OR 2.428; 95% CI 1.092-5.397), deep type (<i>P</i> = 0.010, OR 4.006; 95% CI 1.389-11.556), and mediastinal or retroperitoneal lesion location (<i>P</i> = 0.019, OR 11.864; 95% CI 1.497-94.003) were correlated with KMP occurrence through multivariate logistic regression. ROC curve analysis revealed that the optimal cutoffs were 4.75 months for the age of onset (<i>P</i> < 0.001, OR 7.206, 95% CI 4.073-12.749) and a lesion diameter of 5.35 cm (<i>P</i> < 0.001, OR 11.817, 95% CI 7.084-19.714). Bounded by a lesion size of 5.35 cm, we found significant differences in tumor morphology, age of onset, treatments, and hematological parameters. Using an onset age of 4.75 months as a cutoff, we found significant differences in tumor morphology, lesion size, hematological parameters, and prognosis.</p><p><strong>Conclusion: </strong>For KHE patients with an onset age <4.75 months and/or lesion diameter >5.35 cm, clinicians should be wary of the occurrence of KMP. Active management is recommended to improve the prognosis.</p>","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"6 2","pages":"pbad008"},"PeriodicalIF":5.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9f/01/pbad008.PMC10249050.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9638034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pig-to-Human xenotransplantation: Moving toward organ customization.","authors":"Mengyu Gao,&nbsp;Jie Zhang,&nbsp;Rui Wang,&nbsp;Guang Yang,&nbsp;Ji Bao","doi":"10.1093/pcmedi/pbad013","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad013","url":null,"abstract":"a","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"6 2","pages":"pbad013"},"PeriodicalIF":5.3,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ee/38/pbad013.PMC10266333.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10029877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dysregulated miRNAs modulate tumor microenvironment associated signaling networks in pancreatic ductal adenocarcinoma.","authors":"Tiantian Liu, Zhong Chen, Wanqiu Chen, Ryan Evans, Jane Xu, Mark E Reeves, Michael E de Vera, Charles Wang","doi":"10.1093/pcmedi/pbad004","DOIUrl":"10.1093/pcmedi/pbad004","url":null,"abstract":"<p><p>The desmoplastic and complex tumor microenvironment of pancreatic ductal adenocarcinoma (PDAC) has presented tremendous challenges for developing effective therapeutic strategies. Strategies targeting tumor stroma, albeit with great potential, have met with limited success due to the lack of knowledge on the molecular dynamics within the tumor microenvironment (TME). In pursuit of a better understanding of the influence of miRNAs on TME reprogramming and to explore circulating miRNAs as diagnostic and prognostic biomarkers for PDAC, using RNA-seq, miRNA-seq, and single-cell RNA-seq (scRNA-seq), we investigated the dysregulated signaling pathways in PDAC TME modulated by miRNAs from plasma and tumor tissue. Our bulk RNA-seq in PDAC tumor tissue identified 1445 significantly differentially expressed genes with extracellular matrix and structure organization as the top enriched pathways. Our miRNA-seq identified 322 and 49 abnormally expressed miRNAs in PDAC patient plasma and tumor tissue, respectively. We found many of the TME signaling pathways were targeted by those dysregulated miRNAs in PDAC plasma. Combined with scRNA-seq from patient PDAC tumor, our results revealed that these dysregulated miRNAs were closely associated with extracellular matrix (ECM) remodeling, cell-ECM communication, epithelial-mesenchymal transition, as well as immunosuppression orchestrated by different cellular components of TME. The findings of this study could assist the development of miRNA-based stromal targeting biomarkers or therapy for PDAC patients.</p>","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"6 1","pages":"pbad004"},"PeriodicalIF":5.3,"publicationDate":"2023-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10052370/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9595475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Workup of difficult-to-treat asthma: implications from treatable traits.","authors":"Qing Zhang,&nbsp;Wen Wen Wu,&nbsp;Lei Li,&nbsp;Vanessa M McDonald,&nbsp;Yu Cheng Chen,&nbsp;Gang Wang,&nbsp;Peter G Gibson","doi":"10.1093/pcmedi/pbad003","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad003","url":null,"abstract":"<p><p>Traditional stepwise approach usually adjusts the treatment regimen based on changes in asthma symptoms and severity to achieve good asthma control. However, due to the generalized heterogeneity and complexity of asthma, its therapeutic efficacy in difficult-to-treat asthma is limited. Recently, a precision medicine approach based on the identification and intervention of treatable traits of chronic airway disease has been proposed and appears to be of greater benefit to asthmatics. We reported a 71-year-old male with uncontrolled asthma and multiple exacerbations over the past year. He complained of persistent dyspnea despite high-dose of inhaled corticosteroids plus other controllers. Does this patient have some potential treatable traits contributing to difficult-to-treat asthma? Through a multidimensional assessment of three domains including pulmonary, extrapulmonary, and behavioral/risk factors, 15 treatable traits were identified in the patient, mainly including airflow limitation, eosinophilic airway inflammation, small airway dysfunction, exacerbation prone, dilated cardiomyopathy, diabetes mellitus, inhaler device polypharmacy, smoking, and the absence of an asthma action plan. After targeted treatment for these treatable traits, the patient experienced significant improvement in dyspnea and he could maintain good asthma control with low-dose inhaled corticosteroids and long-acting β₂-agonist. This study shows that, in response to the limitation of a stepwise approach to therapy, treatable traits is a new strategy where patients are individually assessed for a specified set of treatable problems, and an individualized treatment program is developed and implemented based on this multidimensional assessment, especially for difficult-to-treat asthma.</p>","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"6 1","pages":"pbad003"},"PeriodicalIF":5.3,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c9/91/pbad003.PMC10037422.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9274915","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CAS Array: design and assessment of a genotyping array for Chinese biobanking.","authors":"Zijian Tian,&nbsp;Fei Chen,&nbsp;Jing Wang,&nbsp;Benrui Wu,&nbsp;Jian Shao,&nbsp;Ziqing Liu,&nbsp;Li Zheng,&nbsp;You Wang,&nbsp;Tao Xu,&nbsp;Kaixin Zhou","doi":"10.1093/pcmedi/pbad002","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad002","url":null,"abstract":"Abstract Background Chronic diseases are becoming a critical challenge to the aging Chinese population. Biobanks with extensive genomic and environmental data offer opportunities to elucidate the complex gene–environment interactions underlying their aetiology. Genome-wide genotyping array remains an efficient approach for large-scale genomic data collection. However, most commercial arrays have reduced performance for biobanking in the Chinese population. Materials and methods Deep whole-genome sequencing data from 2 641 Chinese individuals were used as a reference to develop the CAS array, a custom-designed genotyping array for precision medicine. Evaluation of the array was performed by comparing data from 384 individuals assayed both by the array and whole-genome sequencing. Validation of its mitochondrial copy number estimating capacity was conducted by examining its association with established covariates among 10 162 Chinese elderly. Results The CAS Array adopts the proven Axiom technology and is restricted to 652 429 single-nucleotide polymorphism (SNP) markers. Its call rate of 99.79% and concordance rate of 99.89% are both higher than for commercial arrays. Its imputation-based genome coverage reached 98.3% for common SNPs and 63.0% for low-frequency SNPs, both comparable to commercial arrays with larger SNP capacity. After validating its mitochondrial copy number estimates, we developed a publicly available software tool to facilitate the array utility. Conclusion Based on recent advances in genomic science, we designed and implemented a high-throughput and low-cost genotyping array. It is more cost-effective than commercial arrays for large-scale Chinese biobanking.","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"6 1","pages":"pbad002"},"PeriodicalIF":5.3,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10031742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9192775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}