Frontiers in Medicine最新文献

{"title":"Accurate and rapid single nucleotide variation detection in <i>PCSK9</i> gene using nanopore sequencing.","authors":"Ilaria Massaiu, Vincenza Valerio, Valentina Rusconi, Francesca Bertolini, Donato De Giorgi, Veronika A Myasoedova, Paolo Poggio","doi":"10.3389/fmed.2025.1620405","DOIUrl":"10.3389/fmed.2025.1620405","url":null,"abstract":"<p><strong>Background: </strong>Genetic testing is essential for disease screening, diagnosis, prognosis, and pharmacotherapy guidance. Oxford Nanopore Technologies (ONT) offers a cost-effective platform for long-read sequencing, yet its routine use in clinical diagnostics remains under evaluation. We tested different nanopore sequencing pipelines aimed at accurately detecting single-nucleotide variants (SNV) in a gene locus spanning ⁓25 kb.</p><p><strong>Methods: </strong>As a proof of concept, <i>PCSK9</i> was selected for its relevance to cardiovascular disease and suitable sequence structure. Twelve subjects were analyzed using different sequencing flow cells, basecalling models, and SNV calling algorithms. Sanger sequencing served as the reference for performance validation. Sequencing throughput per flow cell was also estimated.</p><p><strong>Results: </strong>The combination of super high accuracy (SUP) basecalling with Longshot variant calling demonstrated the highest performance across flow cells. MinION flow cell reached a perfect F1-score of 100%, while the more cost-effective Flongle flow cell remained a viable alternative (mean F1-score: 98.2% ± 4.2). Throughput analysis indicated that a single MinION flow cell could process up to 96 samples and ⁓40 long sequencing regions, whereas a Flongle flow cell could support sequencing of 96 samples and one long region.</p><p><strong>Conclusion: </strong>The proposed nanopore-based SNV identification workflows may support the development of long-read, targeted gene panels, offering a promising tool for both diagnostic and discovery applications, particularly in multi-gene settings such as oncology and cardiology.</p>","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"12 ","pages":"1620405"},"PeriodicalIF":3.1,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12417156/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145039668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dynamic changes of pulmonary function and immune function in children with mycoplasma pneumonia of different severity and their predictive value for disease prognosis: a retrospective cohort study.","authors":"Zheng Liu, Wen Deng, Wenlin Xu, Linlin Ye, Zhihui Rao","doi":"10.3389/fmed.2025.1624256","DOIUrl":"10.3389/fmed.2025.1624256","url":null,"abstract":"<p><strong>Purpose: </strong>To explore the dynamic changes in pulmonary and immune function among children with Mycoplasma pneumoniae pneumonia (MPP) and evaluate their value in disease severity stratification and prognosis prediction.</p><p><strong>Method: </strong>A retrospective cohort of 225 pediatric patients with varying degrees of MPP severity and disease course was analyzed. Lung function and immunological indices were measured and compared across groups.</p><p><strong>Results: </strong>Children with MPP exhibited significant impairments in pulmonary function and alterations in immune profiles compared to controls. These changes were associated with both disease severity and recovery status.</p><p><strong>Conclusion: </strong>Pulmonary and immune function markers may serve as useful indicators for assessing severity and recovery in pediatric MPP. Their clinical application could improve individualized management strategies.</p>","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"12 ","pages":"1624256"},"PeriodicalIF":3.1,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12419223/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145039780","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"How genomics and multi-modal AI are reshaping precision medicine.","authors":"Han Zhuang","doi":"10.3389/fmed.2025.1660889","DOIUrl":"10.3389/fmed.2025.1660889","url":null,"abstract":"","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"12 ","pages":"1660889"},"PeriodicalIF":3.1,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12417403/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145039734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The relationship between peptic ulcer and cardiovascular disease in elderly population: a study on mortality and disease development.","authors":"Lin He, Qianlei Wang, Yang Qiu, Nan Shen, Peimin Pu, Ruiqing Wang, Hongyu Miao, Haiyan Zhang, Xiao Yu, Dinghong Xiao, Lianjun Xing, Zhidong Liu","doi":"10.3389/fmed.2025.1610867","DOIUrl":"10.3389/fmed.2025.1610867","url":null,"abstract":"<p><strong>Background: </strong>Peptic ulcer (PU) and cardiovascular disease (CVD) are significant chronic illnesses, particularly in the elderly. This study investigates the relationship between PU and CVD in older adults and the impact on mortality risk.</p><p><strong>Methods: </strong>This study was conducted utilizing data from a nationwide health survey of the elderly in China. Kaplan-Meier curves and log-rank tests were applied in survival analysis to evaluate mortality differences between the groups. Stratified models were applied to evaluate the effects of factors.</p><p><strong>Results: </strong>This study included 3,636 participants. CVD was significantly associated with an increased PU risk (OR = 1.31, 95%CI 1.03-1.66, <i>p</i> = 0.04), while PU had no significant effect on CVD incidence (OR = 1.08, 95%CI 0.77-1.51, <i>p</i> = 0.64). Mortality risk was significantly higher in the CVD group (HR = 1.22, 95%CI 1.03-1.45, <i>p</i> = 0.02) compared to the non-comorbid group. No significant difference in mortality was observed between the PU-only and combined PU-CVD groups. Stratified analysis identified advanced age (≥75 years) (HR = 1.45, 95%CI 1.06-1.87, <i>p</i> < 0.01) and male gender (HR = 1.29, 95%CI 1.05-1.62, <i>p</i> < 0.01) as significant mortality risk factors among PU patients.</p><p><strong>Conclusion: </strong>PU does not have a significant impact on overall mortality or the prognosis of CVD patients. CVD was a risk factor for PU, but PU did not significantly increase CVD risk. A higher mortality risk was observed in older and male PU patients. These findings suggest the need for gender-sensitive and age-stratified management strategies for PU in high-risk groups.</p>","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"12 ","pages":"1610867"},"PeriodicalIF":3.1,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12417513/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145039870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial: Case reports in pulmonary medicine 2024.","authors":"Karolina H Czarnecka-Chrebelska, Uday Kishore","doi":"10.3389/fmed.2025.1680815","DOIUrl":"10.3389/fmed.2025.1680815","url":null,"abstract":"","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"12 ","pages":"1680815"},"PeriodicalIF":3.1,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12419221/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145039749","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"How digital health risks recreating the isolation it aims to solve for people with serious mental illness.","authors":"Waseem Jerjes, Daniel Harding, Arnoupe Jhass, Ashley Arif","doi":"10.3389/fmed.2025.1620156","DOIUrl":"10.3389/fmed.2025.1620156","url":null,"abstract":"","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"12 ","pages":"1620156"},"PeriodicalIF":3.1,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12417154/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145039799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enhanced glycolysis is associated with aggressive tumor phenotype and worse outcomes in hepatocellular carcinoma patients.","authors":"Masanori Oshi, Colin Rog, Li Yan, Itaru Endo, Kazuaki Takabe","doi":"10.3389/fmed.2025.1588604","DOIUrl":"10.3389/fmed.2025.1588604","url":null,"abstract":"<p><strong>Background: </strong>Adenosine Triphosphate (ATP) is mainly generated by oxidative phosphorylation in non-malignant cells, whereas malignant cells rely predominantly on glycolysis for energy production, known as the \"Warburg effect.\" This study used the gene set variation analysis (GSVA) algorithm to evaluate glycolysis signaling in hepatocellular carcinoma (HCC), and investigated its relationship with tumor aggressiveness and patient prognosis.</p><p><strong>Methods: </strong>Enhanced level of glycolysis signaling was measured using the \"Hallmark-GLYCOLYSIS\" gene set in the MSigDB, applied via GSVA across multiple independent HCC cohorts.</p><p><strong>Results: </strong>There was no significant difference in glycolysis signaling between HCC and other liver diseases in two cohorts. However, enhanced glycolysis signaling linked to gene sets associated with cell proliferation and cancer-promoting pathways, such as unfolded protein response, epithelial mesenchymal transition, and apoptosis, consistently in both cohorts. HCC with high glycolysis signaling score showed increased homologous recombination deficiency (<i>p</i> = 0.004), intratumor heterogeneity (<i>p</i> = 0.005), and mutation burden (<i>p</i> = 0.022). No consistent associations with glycolysis were observed with immune cells infiltration nor cytolytic activity, except for Th1 cells. Clinically, high glycolysis signaling correlated with advanced tumor stage and significantly worse survival outcomes, serving as an independent prognostic biomarker [hazard ratio (HR) = 6.78 and <i>p</i> < 0.001 in OS, HR = 6.56 and <i>p</i> = 0.027 in DSS].</p><p><strong>Conclusion: </strong>Elevated glycolysis signaling is linked to enhanced malignant pathways, genomic instability, and worse clinical outcomes in HCC, indicating its potential as a prognostic biomarker.</p>","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"12 ","pages":"1588604"},"PeriodicalIF":3.1,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12418714/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145039805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prognostic impact of gene alterations via homologous recombination DNA repair gene alteration status in pancreatic ductal adenocarcinoma.","authors":"Yusuke Kawanaka, Chiaki Inagaki, Masaki Okura, Seiichiro Mitani, Takayuki Takahama, Kimio Yonesaka, Yasutaka Chiba, Kazuhiko Nakagawa, Hisato Kawakami, Hidetoshi Hayashi","doi":"10.3389/fmed.2025.1570731","DOIUrl":"10.3389/fmed.2025.1570731","url":null,"abstract":"<p><strong>Background: </strong>Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal malignancies, with limited treatment options and poor prognosis. Recent advances in cancer genomic analysis enable the identification of actionable gene alterations, opening new opportunities for personalized therapy. Among these, homologous recombination DNA repair (HRR) gene alterations are associated with distinct biological behavior, favorable prognosis, and increased sensitivity to platinum-based chemotherapy. However, the prognostic impact of coexisting mutations in key driver genes-<i>KRAS</i>, <i>TP53</i>, <i>CDKN2A</i>, and <i>SMAD4</i>-within HRR-altered PDAC remains poorly understood.</p><p><strong>Methods: </strong>We retrospectively analyzed PDAC patients who underwent genomic profiling testing with FoundationOne® CDx between June 2019 and December 2021 through the Center for Cancer Genomics and Advanced Therapeutics (C-CAT) database. We compared the prevalence and prognostic significance of key gene alterations between HRR-altered and HRR-wild-type (WT) tumors.</p><p><strong>Results: </strong>Of 2,381 PDAC patients, 274 (11.5%) harbored HRR alterations. These patients showed significantly longer overall survival (OS) than those with HRR-WT tumors (HR = 0.66, <i>p</i> = 0.002). The frequencies of <i>KRAS</i>, <i>TP53</i>, and <i>CDKN2A</i> mutations were less frequent in HRR-altered tumors. <i>TP53</i> mutation was independently associated with poorer OS across both HRR subgroups, while <i>CDKN2A</i> alteration was a poor prognostic factor in HRR-WT tumors. Interestingly, <i>SMAD4</i> alteration was linked to improved survival in the HRR-altered group.</p><p><strong>Conclusion: </strong>HRR-altered PDAC has a distinct genomic profile and is associated with a favorable prognosis. Our findings demonstrate that coexisting alterations are significant prognostic factors in both HRR-altered and HRR-wild-type tumors. These results highlight the clinical relevance of incorporating comprehensive genomic profiling into routine care to stratify patient prognosis better and inform individualized treatment strategies in PDAC.</p>","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"12 ","pages":"1570731"},"PeriodicalIF":3.1,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12415010/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145029203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Aspects of power sensitivity among social workers and social work students: a comparative study.","authors":"Melanie Misamer, Claudia Bartels, Michael Belz","doi":"10.3389/fmed.2025.1580234","DOIUrl":"10.3389/fmed.2025.1580234","url":null,"abstract":"<p><p>The asymmetrical nature of the relationship between social workers and their clients may lead to abuse of power due to a human trait or corruption. A high level of power sensitivity is thus crucial to counteract power abuse. Ideally, this topic should be covered during studies, as the risk of corruption rises with everyday working life. In this study, we aimed to assess basic and specific aspects of power sensitivity both for 271 students and 414 professionals, covering (1) general differences for the total sample, (2) differences between both groups and (3) differences between subgroups (semesters, professional years, field of profession; ratings from 0 to 100%). While importance of power sensitivity (94.7%) and professional ethics/principles (91.9%) were rated higher than all other items (<i>p</i> < 0.001), a stark difference was found between the participants' own vs. the anticipated professional groups' power sensitivity (73.9% vs. 53.4%, <i>p</i> < 0.001). A hypothetical individual change for the worse through the power as social worker was rated significantly lower than all other items on the respective scale (61.5%, <i>p</i> < 0.001). Professionals rated the experience of stereotypical ideas and prejudices towards clients (78.5, 75.2%) to be significantly stronger than students (69.4, 67.4% all <i>p</i> < 0.001). For students, power sensitivity generally increased with semesters (<i>p</i> < 0.001), while it remained stable over professional years for social workers. Differences between fields of profession did not reach significance. In summary, both students and professionals emphasized the importance of power sensitivity, but seemed to show a self-serving bias if they compared themselves to their group - considering a possible corruption effect, this may at least be interpreted as problematic. We discuss room for improvement in terms of sensitization, whether in the context of further training (professionals) or curricula (students).</p>","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"12 ","pages":"1580234"},"PeriodicalIF":3.1,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12415015/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145029515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case Report: Sarcoidosis or tuberculosis? A continuous challenge.","authors":"Irina Ruxandra Strambu, Ana Beer","doi":"10.3389/fmed.2025.1602370","DOIUrl":"10.3389/fmed.2025.1602370","url":null,"abstract":"<p><p>Sarcoidosis is a multisystem granulomatous disorder of unknown etiology, characterized by the formation of non-caseating granulomas in affected tissues and organs. In over half of the cases, the disease undergoes spontaneous remission. In contrast, tuberculosis (TB) is an infectious disease caused by <i>Mycobacterium tuberculosis</i>, which, if left untreated, can be fatal. Sarcoidosis and tuberculosis exhibit numerous overlapping clinical, radiological, and histopathological features, including the presence of epithelioid cell granulomas with multinucleated giant cells. Historically, a potential etiological role of <i>M. tuberculosis</i> in sarcoidosis has been proposed; however, this hypothesis has not been conclusively supported by current evidence or therapeutic outcomes. Differentiating between these two entities presents a significant diagnostic challenge, particularly in regions with a high prevalence of tuberculosis. The diagnostic complexity is further heightened in cases where a concomitant occurrence of both conditions is suspected. In such scenarios, the absence of a definitive biomarker hampers the ability to discern whether the diseases coexist independently or share a pathogenic link. This article reviews current evidence on the association between sarcoidosis and tuberculosis and explores potential pathways to elucidate their etiological interrelationship.</p>","PeriodicalId":12488,"journal":{"name":"Frontiers in Medicine","volume":"12 ","pages":"1602370"},"PeriodicalIF":3.1,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12414987/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145029554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}