Precision Clinical Medicine最新文献

{"title":"The latest breakthrough on genetic characteristics of inflammatory bowel disease in Chinese and other East Asian ancestries.","authors":"Han Gao,&nbsp;Zhanju Liu","doi":"10.1093/pcmedi/pbad017","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad017","url":null,"abstract":"<p><p>Inflammatory bowel diseases (IBDs) are complex chronic disorders of the gastrointestinal tract with the following two subtypes: Crohn's disease and ulcerative colitis. Disease presentation and progression within and across IBDs, especially Crohn's disease, are highly heterogeneous in the location, severity of inflammation, intestinal stenosis and obstruction, and extraintestinal manifestations. Clinical classifications fail to accurately predict the disease course and response to therapies. To date, most IBD genetic associations are derived from individuals of European ancestries, leading to a limitation of the discovery and application of IBD genetics in the rest of the world populations. In this mini-review, we summarize the latest progress of genome-wide association studies of IBD across global ancestries especially the Chinese population, the similarities and differences in genetic architecture between European and East Asian ancestries, as well as, the clinical significances relevant to IBD genetic study.</p>","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"6 3","pages":"pbad017"},"PeriodicalIF":5.3,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ab/8d/pbad017.PMC10346401.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9828935","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":"Construction of regulatory network for alopecia areata progression and identification of immune monitoring genes based on multiple machine-learning algorithms.","authors":"Jiachao Xiong,&nbsp;Guodong Chen,&nbsp;Zhixiao Liu,&nbsp;Xuemei Wu,&nbsp;Sha Xu,&nbsp;Jun Xiong,&nbsp;Shizhao Ji,&nbsp;Minjuan Wu","doi":"10.1093/pcmedi/pbad009","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad009","url":null,"abstract":"<p><strong>Objectives: </strong>Alopecia areata (AA) is an autoimmune-related non-cicatricial alopecia, with complete alopecia (AT) or generalized alopecia (AU) as severe forms of AA. However, there are limitations in early identification of AA, and intervention of AA patients who may progress to severe AA will help to improve the incidence rate and prognosis of severe AA.</p><p><strong>Methods: </strong>We obtained two AA-related datasets from the gene expression omnibus database, identified the differentially expressed genes (DEGs), and identified the module genes most related to severe AA through weighted gene co-expression network analysis. Functional enrichment analysis, construction of a protein-protein interaction network and competing endogenous RNA network, and immune cell infiltration analysis were performed to clarify the underlying biological mechanisms of severe AA. Subsequently, pivotal immune monitoring genes (IMGs) were screened through multiple machine-learning algorithms, and the diagnostic effectiveness of the pivotal IMGs was validated by receiver operating characteristic.</p><p><strong>Results: </strong>A total of 150 severe AA-related DEGs were identified; the upregulated DEGs were mainly enriched in immune response, while the downregulated DEGs were mainly enriched in pathways related to hair cycle and skin development. Four IMGs (LGR5, SHISA2, HOXC13, and S100A3) with good diagnostic efficiency were obtained. As an important gene of hair follicle stem cells stemness, we verified <i>in vivo</i> that LGR5 downregulation may be an important link leading to severe AA.</p><p><strong>Conclusion: </strong>Our findings provide a comprehensive understanding of the pathogenesis and underlying biological processes in patients with AA, and identification of four potential IMGs, which is helpful for the early diagnosis of severe AA.</p>","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"6 2","pages":"pbad009"},"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/7e/f9/pbad009.PMC10268596.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9716786","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":"New treatment for osteoarthritis: Gene therapy.","authors":"Xinyu Li,&nbsp;Leyao Shen,&nbsp;Zhenghan Deng,&nbsp;Zeyu Huang","doi":"10.1093/pcmedi/pbad014","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad014","url":null,"abstract":"<p><p>Osteoarthritis is a complex degenerative disease that affects the entire joint tissue. Currently, non-surgical treatments for osteoarthritis focus on relieving pain. While end-stage osteoarthritis can be treated with arthroplasty, the health and financial costs associated with surgery have forced the search for alternative non-surgical treatments to delay the progression of osteoarthritis and promote cartilage repair. Unlike traditional treatment, the gene therapy approach allows for long-lasting expression of therapeutic proteins at specific sites. In this review, we summarize the history of gene therapy in osteoarthritis, outlining the common expression vectors (non-viral, viral), the genes delivered (transcription factors, growth factors, inflammation-associated cytokines, non-coding RNAs) and the mode of gene delivery (direct delivery, indirect delivery). We highlight the application and development prospects of the gene editing technology CRISPR/Cas9 in osteoarthritis. Finally, we identify the current problems and possible solutions in the clinical translation of gene therapy for osteoarthritis.</p>","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"6 2","pages":"pbad014"},"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/a6/19/pbad014.PMC10273835.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9840308","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":"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}