Precision Clinical Medicine最新文献

{"title":"PBS: a prospective longitudinal multi-omics bariatric surgery cohort","authors":"Y. Jiao, Jiaming Xue, Shuai Chen, Wei Sun, Xiangqing Kong, Lianmin Chen, Liming Tang","doi":"10.1093/pcmedi/pbad032","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad032","url":null,"abstract":"","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"75 10","pages":""},"PeriodicalIF":5.3,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139008172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prealbumin as a prognostic indicator for hospital readmission of ulcerative colitis patients","authors":"Chao Ye, Anmin Wang, Wei Li, Wenyuan Li, Qi shen, Zhangfei Wang, Li Xie, Qiuxia Jiang, Kaiguang Zhang, Shu Zhu","doi":"10.1093/pcmedi/pbad026","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad026","url":null,"abstract":"","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":" 392","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135186888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Loss of chromosome 9p21 is associated with a poor prognosis in adenosquamous carcinoma of the pancreas","authors":"Yina Jiang, YinYing Wu, Liwen Zhang, Yan Wang, Guiping Xu, Yuan Deng, Liang Han, Enxiao Li, Qingyong Ma, Mian Xu, Zheng Wu, Zheng Wang","doi":"10.1093/pcmedi/pbad030","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad030","url":null,"abstract":"Abstract Adenosquamous carcinoma of the pancreas (ASCP) is a rare histological subtype of pancreatic cancer with a poor prognosis and a high metastasis rate. However, little is known about its genomic landscape and prognostic biomarkers. Forty-eight ASCP specimens and 98 pancreatic ductal adenocarcinoma (PDAC) tumours pecimens were sequenced to explore the genomic landscape and prognostic biomarkers. The homozygous deletion of the 9p21.3 region (including CDKN2A, CDKN2B, and MTAP) (9p21 loss) occurred in both ASCP and PDAC, and a higher frequency of 9p21 loss was observed in ASCP (12.5% vs. 2.0%, p = 0.022). Notably, 9p21 loss was significantly associated with poor disease-free survival (DFS) in ASCP patients (mDFS = 4.17 vs. 7.33 months, HR = 3.70, p = 0.009). The most common gene alterations in patients with ASCP were KRAS (96%), TP53 (81%), CDKN2A (42%), SMAD4 (21%), CDKN2B (13%), and FAT3 (13%). The mutation rates of ACVR2A (6.25% vs. 0), FANCA (6.25% vs. 0), RBM10 (6.25% vs. 0), and SPTA1 (8.33% vs. 1.02%) were significantly higher in ASCP than in PDAC. In conclusion, we have comprehensively described the genomic landscape of the largest cohort of ASCP patients to date and highlight that 9p21 loss may be a promising prognostic biomarker for ASCP, which provides a molecular basis for prognosis prediction and new therapeutic strategies for ASCP.","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"121 11","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135541640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A pairwise radiomics algorithm - lesion pair relation estimation (PRE) model for distinguishing multiple primary lung cancer (MPLC) from intrapulmonary metastasis (IPM)","authors":"Ting-Fei Chen, Lei Yang, Hai-Bin Chen, Zhi-Guo Zhou, Zhen-Tian Wu, Hong-He Luo, Qiong Li, Ying Zhu","doi":"10.1093/pcmedi/pbad029","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad029","url":null,"abstract":"Abstract Background Distinguishing multiple primary lung cancer (MPLC) from intrapulmonary metastasis (IPM) is critical for their disparate treatment strategy and prognosis. This study aimed to establish a non-invasive model to make the differentiation pre-operatively. Methods We retrospectively studied 168 patients with multiple lung cancers (307 pairs of lesions) including 118 cases for modeling and internal validation, and 50 cases for independent external validation. Radiomic features on computed tomography (CT) were extracted to calculate the absolute deviation of paired lesions. Features were then selected by correlation coefficients and random forest classifier five-fold cross-validation, based on which the lesion pair relation estimation (PRE) model was developed. A major voting strategy was used to decide diagnosis for cases with multiple pairs of lesions. Cases from another institute were included as the external validation set for the PRE model to compete with two experienced clinicians. Results Seven radiomic features were selected for the PRE model construction. With major voting strategy, the mean area under receiver operating characteristic curve (AUC), accuracy, sensitivity, and specificity of the training vs. internal validation vs. external validation cohort to distinguish MPLC were 0.983 vs. 0.844 vs. 0.793, 0.942 vs. 0.846 vs. 0.760, 0.905 vs. 0.728 vs. 0.727, and 0.962 vs. 0.910 vs. 0.769, respectively. AUCs of the two clinicians were 0.619 and 0.580. Conclusions The CT radiomic feature-based lesion PRE model is potentially an accurate diagnostic tool for the differentiation of MPLC and IPM, which could help with clinical decision making.","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"4 ","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136069325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigating the gut microbiota's influence on psoriasis and psoriatic arthritis risk: a Mendelian randomization analysis.","authors":"Nianzhou Yu, Jiayi Wang, Yuancheng Liu, Yeye Guo","doi":"10.1093/pcmedi/pbad023","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad023","url":null,"abstract":"<p><strong>Background: </strong>Numerous investigations have revealed the interplay between gut microbiota (GM) and psoriasis (Ps) and psoriatic arthritis (PsA). However, the causal relationship between them remains unknown.</p><p><strong>Methods: </strong>We curated a collection of genetic variants (<i>P</i> < 1 × 10^-5) associated with GM (<i>n</i> = 18 340) derived from the MiBioGen study. To explore the intricate relationship between GM and Ps as well as PsA, we harnessed the comprehensive resources of the FinnGen database, encompassing a vast cohort of individuals, including 4510 Ps cases and 212 242 controls and 1637 PsA cases and 212 242 controls. Mendelian randomization (MR) was used, including an inverse variance weighting method, followed by a sensitivity analysis to verify the robustness of the results.</p><p><strong>Results: </strong>For Ps, some bacterial taxa, including <i>Lactococcus, Ruminiclostridium 5</i>, and <i>Eubacterium fissicatena</i>, were identified as risk factors; but <i>Odoribacter</i> demonstrated a protective effect against Ps. In the case of PsA, <i>Lactococcus, Verrucomicrobiales, Akkermansia, Coprococcus 1</i>, and <i>Verrucomicrobiaceae</i> were identified as risk factors; <i>Odoribacter</i> and <i>Rikenellaceae</i> exhibited a protective effect against the development of PsA.</p><p><strong>Conclusion: </strong>Our study establishes a causal link between the GM and Ps and PsA. These findings provide insights into the underlying mechanisms and suggest potential therapeutic targets.</p>","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"6 3","pages":"pbad023"},"PeriodicalIF":5.3,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10680138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138463075","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 apolipoprotein A1 on tumor immune microenvironment, clinical prognosis and genomic landscape in hepatocellular carcinoma.","authors":"Ying Wang, Shipeng Chen, Xiao Xiao, Fan Yang, Jinhan Wang, Hui Zong, Yuzhen Gao, Chenjun Huang, Xuewen Xu, Meng Fang, Xiaoyan Zhang, Chunfang Gao","doi":"10.1093/pcmedi/pbad021","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad021","url":null,"abstract":"<p><strong>Background: </strong>Current knowledge on apolipoprotein A1 (APOA1) in hepatocellular carcinoma (HCC) is fragmented and even contradictory. Multi-dimensional analyses are required to comprehensively elucidate its value and underlying mechanism.</p><p><strong>Methods: </strong>We collected 49 RNA-seq datasets, 40 cell line types data and 70 scRNA pan-cancer datasets public available, including 17 HCC datasets (1754 tumor samples), and enrolled 73 pairs of HCC tissue and 516 blood samples independently from our clinics. APOA1 impacting on the HCC tumor microenvironment (TME) was analyzed using intensive data mining. Methylation sequencing, flow cytometry, quantitative PCR, western blot, immunohistochemistry and clinical chemistry assays were conducted for wet experimental investigation.</p><p><strong>Results: </strong>The APOA1 ontology fingerprint indicated that it played various crucial biological roles in HCC, primarily involved in cholesterol efflux. Consistent findings at histology, serology, and clinical follow-up revealed that high APOA1 was a good prognosis indicator of HCC. Hypermethylation in the APOA1 promoter region was found in clinical samples which is in accordance with the reduction of APOA1 in HCC. The cell cycle, DNA replication, mismatch repair pathways, and tumor cell proliferation were less observed in the HCC APOA1^high subgroup. The favorable immunoregulatory abilities of APOA1 showed interesting findings: a positive correlation between APOA1 and anti-tumor immune cells (NK, CD8⁺ T cells) and a negative association with immune cells exerting immunosuppressive effects, including M2 macrophages.</p><p><strong>Conclusion: </strong>This is an integrative multidimensional exploration of APOA1 using bioinformatics and experiments. Both the prognostic value and anti-tumor effects based on APOA1 panoramic exploration in the HCC TME demonstrate a new potential clinical target for HCC assessment and intervention in the future.</p>","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"6 3","pages":"pbad021"},"PeriodicalIF":5.3,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10680024/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138463074","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":"Advances in diagnosis and prediction for aggression of pure solid T1 lung cancer.","authors":"Junhao Mu, Jing Huang, Min Ao, Weiyi Li, Li Jiang, Li Yang","doi":"10.1093/pcmedi/pbad020","DOIUrl":"https://doi.org/10.1093/pcmedi/pbad020","url":null,"abstract":"<p><p>A growing number of early-stage lung cancers presenting as malignant pulmonary nodules have been diagnosed because of the increased adoption of low-dose spiral computed tomography. But pure solid T1 lung cancer with ≤3 cm in the greatest dimension is not always at an early stage, despite its small size. This type of cancer can be highly aggressive and is associated with pathological involvement, metastasis, postoperative relapse, and even death. However, it is easily misdiagnosed or delay diagnosed in clinics and thus poses a serious threat to human health. The percentage of nodal or extrathoracic metastases has been reported to be >20% in T1 lung cancer. As such, understanding and identifying the aggressive characteristics of pure solid T1 lung cancer is crucial for prevention, diagnosis, and therapeutic strategies, and beneficial to improving the prognosis. With the widespread of lung cancer screening, these highly invasive pure solid T1 lung cancer will become the main advanced lung cancer in future. However, there is limited information regarding precision medicine on how to identify these \"early-stage\" aggressive lung cancers. To provide clinicians with new insights into early recognition and intervention of the highly invasive pure solid T1 lung cancer, this review summarizes its clinical characteristics, imaging, pathology, gene alterations, immune microenvironment, multi-omics, and current techniques for diagnosis and prediction.</p>","PeriodicalId":33608,"journal":{"name":"Precision Clinical Medicine","volume":"6 3","pages":"pbad020"},"PeriodicalIF":5.3,"publicationDate":"2023-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10680022/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138463073","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":"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}