Expert Review of Molecular Diagnostics最新文献

Elements of liquid biopsies: isolation, analysis and clinical application in cancer diagnosis to prognosis.

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-12-18 DOI: 10.1080/14737159.2024.2445111

Nishtha Mahendra Kumar, Niyati Navaneeth, Abhijith Shettar, Anupama Chelimeswamy

{"title":"Elements of liquid biopsies: isolation, analysis and clinical application in cancer diagnosis to prognosis.","authors":"Nishtha Mahendra Kumar, Niyati Navaneeth, Abhijith Shettar, Anupama Chelimeswamy","doi":"10.1080/14737159.2024.2445111","DOIUrl":"https://doi.org/10.1080/14737159.2024.2445111","url":null,"abstract":"Introduction: The liquid biopsy is a breakthrough in the field of medical diagnostics. It serves as a sentinel that can quietly detect even the subtlest aberrations that indicate the presence of disease. They make it possible to uncover relevant genetic factors of tumors with minimal to no risk to cancer patients. Liquid biopsies allow detailed diagnosis, dynamic treatment monitoring, and accurate prognosis. They are also invaluable in diagnosing other diseases such as infectious diseases and aberrant gene mutations.Areas covered: The present review undertakes an in-depth analysis of the existing status of liquid biopsy diagnostic tools, focusing on their principal components. Furthermore, the review highlights pertinent and recent research in this field to provide a comprehensive understanding of the current state of this technology and its prospects.Expert opinion: Despite new and upcoming research in liquid biopsies, multiple areas need to be further explored before the viable transition into the clinical arena. With the advancements in tools such as artificial intelligence and machine learning and the integration of these technologies with liquid biopsies, these challenges are being addressed and will eventually lead to the development of a highly evolved liquid biopsy diagnostic tools.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Unlocking the power of biomarkers: transforming the diagnosis of acute respiratory distress syndrome.

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-12-18 DOI: 10.1080/14737159.2024.2442574

Denise Battaglini, Sergio Lassola, Marcus J Schultz, Patricia R M Rocco

引用次数: 0

Implementation of molecular diagnostic testing for group a streptococcal pharyngitis: considerations and challenges with a focus on point-of-care environments. A 组链球菌咽炎分子诊断检测的实施：以护理点环境为重点的考虑因素和挑战。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-12-17 DOI: 10.1080/14737159.2024.2443763

Scott M Sugden, Michael Loeffelholz

{"title":"Implementation of molecular diagnostic testing for group a streptococcal pharyngitis: considerations and challenges with a focus on point-of-care environments.","authors":"Scott M Sugden, Michael Loeffelholz","doi":"10.1080/14737159.2024.2443763","DOIUrl":"https://doi.org/10.1080/14737159.2024.2443763","url":null,"abstract":"Introduction: Rapid and accurate detection of group A Streptococcus (GAS) pharyngitis allows for timely initiation of appropriate antibiotic treatment. This is important to prevent empiric antibiotic overuse while simultaneously lowering the risk of post-infection sequelae. Timely treatment may also reduce forward transmission, which could prevent cases of devastating invasive infections. The need for timely and accurate diagnosis of GAS pharyngitis has created an ideal environment for molecular diagnostic (MDx) testing. The high sensitivity of MDx tests mean no culture confirmation is required for negative results, and several MDx tests are approved for point-of-care (PoC) use. As such, MDx technology can lower the barriers to treatment in remote areas of high incidence, where resources are limited. We believe it is time for widespread adoption of MDx testing for GAS pharyngitis.Areas covered: Here we highlight the advantages of MDx GAS pharyngitis testing and discuss challenges to implementation - as well as solutions to these challenges.Expert opinion: In the face of increased GAS-induced disease following the end of the COVID-19 pandemic, evidence supporting the clinical validity and cost-effectiveness of MDx testing for GAS pharyngitis continues to grow. Although hurdles to implementation exist, broad-based implementation of this technology is within practical reach.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142834833","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Diagnosis and management of invasive fungal diseases by next-generation sequencing: are we there yet?

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-12-12 DOI: 10.1080/14737159.2024.2436396

N Esther Babady, Charles Y Chiu, Arryn Craney, David C Gaston, Rachel S Hicklen, Catherine A Hogan, Teny M John, Adam G Stewart

{"title":"Diagnosis and management of invasive fungal diseases by next-generation sequencing: are we there yet?","authors":"N Esther Babady, Charles Y Chiu, Arryn Craney, David C Gaston, Rachel S Hicklen, Catherine A Hogan, Teny M John, Adam G Stewart","doi":"10.1080/14737159.2024.2436396","DOIUrl":"10.1080/14737159.2024.2436396","url":null,"abstract":"Introduction: Invasive fungal diseases (IFDs) are a serious threat to immunocompromised patients. Routine diagnostic methods have limited performance in identifying IFDs. Next-generation sequencing (NGS), including metagenomic NGS (mNGS) and whole-genome sequencing (WGS), recently emerged as diagnostic methods that could provide more accurate and timely diagnoses and management of IFDs.Areas covered: This article describes the emergence of NGS as a diagnostic tool to address the limitations of current tests. The literature regarding its application and clinical utility in the diagnosis of IFDs is reviewed. Practical considerations, challenges, and opportunities as they relate to the development and implementation of mNGS and WGS for fungal pathogens are discussed.Expert opinion: NGS emerged over a decade ago with the potential to solve many of the challenges in diagnosing infectious diseases, including IFDs. However, published literature has yielded conflicting data about its clinical utility. The increased clinical adoption of NGS is improving our understanding of how to interpret and use its results to guide actionable decisions. Still, several gaps remain. As the cost, effort, and expertise involved in performing NGS decrease and the reporting of its results becomes standardized, NGS is poised to fill current gaps in the diagnosis of IFDs.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-14"},"PeriodicalIF":3.9,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142767491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Integrating pre- and post-treatment biomarkers into prognostic models for chronic lymphocytic leukemia to enhance predictive performance.

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-12-10 DOI: 10.1080/14737159.2024.2438991

Stefano Molica

引用次数: 0

Next-generation sequencing for laboratory diagnosis of infectious diseases.

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-12-10 DOI: 10.1080/14737159.2024.2438175

Susanna K P Lau, Patrick C Y Woo

引用次数: 0

TRIB3 overexpression predicts malignant progression and poor prognosis in human solid tumors: bioinformatics validation and clinical significance.

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-12-09 DOI: 10.1080/14737159.2024.2436391

Kangping Yang, Benjie Li, Xuan Xu, Zilu Yu, Xinmeng Lyu, Kexin Ren, Xiangfei Liu, Shen Chen, Huizi Li

{"title":"TRIB3 overexpression predicts malignant progression and poor prognosis in human solid tumors: bioinformatics validation and clinical significance.","authors":"Kangping Yang, Benjie Li, Xuan Xu, Zilu Yu, Xinmeng Lyu, Kexin Ren, Xiangfei Liu, Shen Chen, Huizi Li","doi":"10.1080/14737159.2024.2436391","DOIUrl":"10.1080/14737159.2024.2436391","url":null,"abstract":"Introduction: Overexpression of tribbles homolog 3 (TRIB3) has been reported in various cancers, yet its clinical significance remains contentious. This study aims to elucidate the association between TRIB3 overexpression and the progression and prognosis of solid tumors.Methods: A comprehensive analysis was conducted using data from published studies and The Cancer Genome Atlas (TCGA) up to May 2023. We evaluated the impact of high TRIB3 expression on tumor malignancy and survival outcomes across different cancer types.Results: Seventeen studies met the inclusion criteria. Our findings revealed that TRIB3 overexpression is significantly associated with increased distant metastasis (OR = 4.01, 95% CI: 2.36-6.74, p < 0.001) and advanced histological stage (OR = 2.68, 95% CI: 1.50-4.78, p < 0.001). Additionally, high TRIB3 expression significantly elevated the risk of reduced overall survival (OS) in cancer patients (HR = 1.52, 95% CI: 1.05-2.20, p < 0.001), indicating a poor prognosis. Analyses of TCGA data among various prognostic indicators corroborated these findings.Conclusions: TRIB3 overexpression is significantly linked to malignant progression and unfavorable prognosis in diverse solid tumors. These results suggest that TRIB3 holds promise as a biomarker and therapeutic target in human cancers.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-12"},"PeriodicalIF":3.9,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142749648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Variants of KLF5 and KLF12 were related to endometrial cancer risk in the Chinese population.

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-12-08 DOI: 10.1080/14737159.2024.2436394

Wenjing Zhang, Junhui Han, Panpan Wan, Man Zhang, Yanting Chang, Yan Yan, Hang Meng, Mengnan Hou, Tianbo Jin

{"title":"Variants of KLF5 and KLF12 were related to endometrial cancer risk in the Chinese population.","authors":"Wenjing Zhang, Junhui Han, Panpan Wan, Man Zhang, Yanting Chang, Yan Yan, Hang Meng, Mengnan Hou, Tianbo Jin","doi":"10.1080/14737159.2024.2436394","DOIUrl":"https://doi.org/10.1080/14737159.2024.2436394","url":null,"abstract":"Objectives: Krüppel‑like factors (KLFs) are implicated in the progression of endometrial cancer (EC). This present study explored the correlation between variants of KLF5, KLF12 and EC risk in the Chinese population.Methods: The Agena MassARRAY technology platform was utilized to genotype six single nucleotide polymorphisms (SNPs) in KLF5 and KLF12 genes among 509 women diagnosed with EC and 506 age-matched healthy women. Subsequently, the relationship between SNPs in KLF5 and KLF12 and EC risk was calculated using logistic regression analysis. The interactions between SNPs in KLF5 and KLF12 were analyzed to predict EC risk using multifactor dimensionality reduction (MDR) analysis.Results: KLF12 rs12429889 was significantly associated with EC risk (codominant: OR = 1.53, p = 0.003; dominant: OR = 1.54, p = 0.004). In addition, rs7329599 was significantly associated with EC risk in participants aged ≤55 years (codominant: OR = 0.63, p = 0.014; dominant: OR = 0.67, p = 0.024), whereas rs12429889 was significantly associated with EC risk in participants aged >55 years (codominant: OR = 1.98, p = 0.004; dominant: OR = 2.06, p = 0.002).Conclusion: Our findings revealed a significant correlation between KLF12 rs12429889 and rs7329599 and EC risk, highlighting their potential as diagnostic biomarkers. [Figure: see text].","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-9"},"PeriodicalIF":3.9,"publicationDate":"2024-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142794616","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Exploring sex-specific genetic architecture of coronary artery disease in Tehran: a cardiometabolic genetic study.

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-12-05 DOI: 10.1080/14737159.2024.2436399

Leila Najd-Hassan-Bonab, Maryam S Daneshpour, Mojtaba Jafarinia, Mahdi Akbarzadeh, Maryam Moazzam-Jazi, Sara Asgarian, Davood Khalili

{"title":"Exploring sex-specific genetic architecture of coronary artery disease in Tehran: a cardiometabolic genetic study.","authors":"Leila Najd-Hassan-Bonab, Maryam S Daneshpour, Mojtaba Jafarinia, Mahdi Akbarzadeh, Maryam Moazzam-Jazi, Sara Asgarian, Davood Khalili","doi":"10.1080/14737159.2024.2436399","DOIUrl":"https://doi.org/10.1080/14737159.2024.2436399","url":null,"abstract":"Background: The development of coronary artery disease (CAD) is influenced by sex and genetic factors. Genome-wide association studies (GWAS) have linked genetic loci to CAD, mostly in European populations. The study aims to find sex-related genetic differences in the Iranian population.Research design and methods: We conducted a sex-stratified GWAS with 4519 subjects (1832 males and 2687 females) in the discovery group and 922 subjects (495 males and 427 females) in the confirmation group of an Iranian cohort. We analyzed 9,141,124 variants using a genome-wide complex trait analysis (GCTA) tool.Results: We detected distinct genetic variants associated with CAD in males: rs34952209 [OR = 1.79; p = 5.216E-8], rs1432687863 [OR = 1.95; p = 8.477E-8], and in females, rs7314741 [OR = 1.67; p = 7.142-8E] positively influenced CAD risk. The CAD-associated SNPs that were obtained have been confirmed using independent samples. Rs3495229 May impact histone mark and Pou2f2 motifs, while rs7314741 in the LEM Domain Containing 3 (LEMD3) promoter may affect a regulatory motif for the STAT transcription factor. According to Roadmap and ENCODE data, Rs1432687863 is a new variant affecting CAD in males, potentially through H3K9me3 in the heart.Conclusions: Our findings highlight the role of sex-specific genetic differences in CAD development, providing novel insights into disease pathways which is not appropriate using a sex-combined strategy. [Figure: see text].","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-10"},"PeriodicalIF":3.9,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142784488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

HNF1B polymorphisms and endometrial cancer risk: validation of identified loci and evaluation of novel variants.

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-12-04 DOI: 10.1080/14737159.2024.2436397

Fang Liu, Chunmei Li, Man Di, Boqi Shu, Xifeng Xiao

{"title":"HNF1B polymorphisms and endometrial cancer risk: validation of identified loci and evaluation of novel variants.","authors":"Fang Liu, Chunmei Li, Man Di, Boqi Shu, Xifeng Xiao","doi":"10.1080/14737159.2024.2436397","DOIUrl":"https://doi.org/10.1080/14737159.2024.2436397","url":null,"abstract":"Background: This study aimed to validate HNF1B single nucleotide polymorphisms (SNPs) associated with endometrial cancer risk in a Chinese Han population and explore novel SNPs. Our findings enhance the understanding of genetic components and are crucial for detection strategies and personalized medicine.Methods: We genotyped four HNF1B SNPs in 637 patients and 667 controls using Agena MassARRAY. Logistic regression calculated odds ratios (ORs) and 95% CI. Forest plots visualize stratified analyses. Multiple comparisons tested genetic loci-clinical indicator associations.Results: The study confirmed that rs4430796 (A>G) reduced endometrial cancer risk (OR = 0.83, 95% CI: 0.70-0.99, p = 0.041). Additionally, novel HNF1B mutations were associated with endometrial cancer risk: rs7405776 in individuals under the age of 55 (OR = 047, 95% CI: 0.25-0.91, p = 0.025) and nonsmokers (OR = 0.42, 95% CI: 0.23-0.75, p = 0.004), and rs11651755 in drinkers (OR = 0.39, 95% CI: 0.17-0.90, p = 0.027) and nonsmokers (OR = 0.43, 95% CI: 0.23-0.81, p = 0.009). The SNP rs4430796 was also associated with the CA125 level (p < 0.05).Conclusion: HNF1B polymorphisms influence endometrial cancer risk in the Chinese Han population. Further studies are needed to explore the functional roles and clinical practicality of these SNPs.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-8"},"PeriodicalIF":3.9,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142779535","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0