Advances in Laboratory Markers of Human Disease

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Laboratory Medicine".

Deadline for manuscript submissions: 30 September 2025 | Viewed by 4417

Special Issue Editor


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Guest Editor
Department of Laboratory Medicine, Konkuk University School of Medicine, Seoul 05030, Republic of Korea
Interests: biomarker research; diagnostic hematology; transfusion medicine; molecular genetics
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Special Issue Information

Dear Colleagues,

Current clinical practice largely depends on biomarkers, and emerging biomarkers, as well as conventional biomarkers, are widely used for early detection, risk stratification, and prognosis prediction in a variety of human diseases. Advanced research on laboratory biomarkers is also essential in the realm of translational medicine, bridging the basic and clinical fields. I would like to invite outstanding researchers to contribute their excellent studies to this Special Issue. The targeted articles include, but not limited to, the researches related to the laboratory medicine, from genomic or proteomic researches, molecular diagnostics, clinical chemistry, immunology, hematology, microbiology to digitalized and artificial intelligence-related markers. I believe that this broad collection of research will highlight our current understanding and utility on laboratory markers and form the fundamental basis on further advances in laboratory markers of human disease.

Prof. Dr. Mina Hur
Guest Editor

Manuscript Submission Information

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Keywords

  • laboratory biomarkers
  • genomic
  • proteomics
  • molecular diagnostics
  • clinical chemistry
 

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Published Papers (4 papers)

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Research

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14 pages, 1465 KiB  
Article
A Comparative Study on the Paradoxical Relationship Between Heavy Metal Exposure and Kidney Function
by Jee Hyun Rho, Seungho Lee, Jung-Yeon Kwon and Young-Seoub Hong
Diagnostics 2025, 15(1), 86; https://doi.org/10.3390/diagnostics15010086 - 2 Jan 2025
Viewed by 409
Abstract
Introduction: Korea has higher levels of heavy metals compared to other countries, raising the need to study the health impacts on vulnerable populations. This study examined the effects of heavy metal exposure—lead, mercury, and cadmium—on kidney function in residents of environmentally vulnerable [...] Read more.
Introduction: Korea has higher levels of heavy metals compared to other countries, raising the need to study the health impacts on vulnerable populations. This study examined the effects of heavy metal exposure—lead, mercury, and cadmium—on kidney function in residents of environmentally vulnerable areas compared to the general population in Korea. Methods: Epidemiological studies in vulnerable areas and official data from the Fourth Korean National Environmental Health Survey were analyzed to assess blood levels of lead and mercury and urinary cadmium. An integrated heavy metal concentration was calculated, combining the levels of these metals. Kidney function was evaluated using the estimated glomerular filtration rate (eGFR), classified into normal, mildly reduced, and impaired. Correlation and logistic regression analyses were used to examine relationships between heavy metal levels and eGFR. Results: The integrated heavy metal concentration in vulnerable areas was higher than in the general population. In the general population, increased heavy metal levels were associated with a decrease in eGFR, whereas in vulnerable areas, eGFR increased with higher heavy metal levels. In the general population, a rise in urinary cadmium increased the risk of eGFR decline by 19.9%, while in vulnerable areas, higher urinary cadmium reduced this risk by 23.3%. Conclusions: Contrasting relationships between heavy metal exposure and eGFR in vulnerable areas versus the general population may be due to long-term exposure and reduced renal excretion. This study underscores the need for continued monitoring in vulnerable areas, and future research should identify eGFR thresholds that correlate with heavy metal level shifts. Full article
(This article belongs to the Special Issue Advances in Laboratory Markers of Human Disease)
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12 pages, 3412 KiB  
Article
Towards Meaningful Interpretation of Molecular Data: Insights Gained from HMMD Challenges in Salmonella Detection for Future NGS Integration in Clinical Microbiology
by Hyunji Kim, Soo Hyun Seo, Jae-Seok Kim, Kwang Jun Lee and Kyoung Un Park
Diagnostics 2025, 15(1), 77; https://doi.org/10.3390/diagnostics15010077 - 31 Dec 2024
Viewed by 407
Abstract
Background: With advancements in molecular diagnostics, including Highly Multiplexed Microbiological/Medical Countermeasure Diagnostic Devices (HMMDs) and the impending integration of Next-Generation Sequencing (NGS) into clinical microbiology, interpreting the flood of nucleic acid data in a clinically meaningful way has become a crucial challenge. This [...] Read more.
Background: With advancements in molecular diagnostics, including Highly Multiplexed Microbiological/Medical Countermeasure Diagnostic Devices (HMMDs) and the impending integration of Next-Generation Sequencing (NGS) into clinical microbiology, interpreting the flood of nucleic acid data in a clinically meaningful way has become a crucial challenge. This study focuses on the Luminex xTAG Gastrointestinal Pathogen Panel (GPP) for Salmonella detection, evaluating the impact of MFI threshold adjustments on diagnostic accuracy and exploring the need for an “indeterminate” result category to enhance clinical utility in molecular diagnostics. Methods: A retrospective review of Salmonella-positive cases detected via the Luminex xTAG GPP was conducted from June 2016 to November 2023. Key metrics included patient symptoms, stool culture results, and potential infection sources. Results were analyzed using the assay’s MFI cutoffs in Versions 1.11 and 1.12. Statistical comparisons between culture-confirmed and non-confirmed cases were performed using Kruskal–Wallis tests to assess MFI value distributions. Results: Among 2573 tests, 212 were Salmonella-positive under Version 1.11, while 185 were positive under Version 1.12. Adjusting the MFI threshold in Version 1.12 reduced false positives from 40.6% to 38.4% but led to one culture-confirmed positive case being missed. Statistically significant MFI differences were observed between culture-positive and culture-negative cases, suggesting that fixed binary cutoffs may not always yield clinically accurate interpretations. Discussion: The MFI threshold adjustment decreased false positives without fundamentally improving diagnostic accuracy, highlighting the limitations of binary interpretations in HMMDs. Introducing an “indeterminate” category, especially for cases with low MFI values, could aid clinicians in integrating molecular results with patient context. This approach offers a framework for future NGS integration, where nuanced interpretation will be essential to differentiate clinically significant findings from incidental data. Conclusions: Implementing an “indeterminate” interpretation category for HMMDs could enhance clinical decision-making and refine public health surveillance by focusing on clinically relevant findings. As NGS moves toward clinical application, establishing similar interpretive standards will be essential to manage the complexity and volume of molecular data effectively. Full article
(This article belongs to the Special Issue Advances in Laboratory Markers of Human Disease)
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16 pages, 2479 KiB  
Article
Diagnostic and Prognostic Utilities of Pancreatic Stone Protein in Patients with Suspected Sepsis
by Gun-Hyuk Lee, Hanah Kim, Hee-Won Moon, Yeo-Min Yun, Mikyoung Park, Seungho Lee and Mina Hur
Diagnostics 2024, 14(18), 2076; https://doi.org/10.3390/diagnostics14182076 - 19 Sep 2024
Viewed by 931
Abstract
Background/Objectives: Pancreatic stone protein (PSP) is an emerging biomarker of sepsis that is secreted from pancreas sensing remote organ damages. We explored the diagnostic and prognostic utilities of PSP in patients with suspected sepsis. Methods: In a total of 285 patients (suspected sepsis, [...] Read more.
Background/Objectives: Pancreatic stone protein (PSP) is an emerging biomarker of sepsis that is secreted from pancreas sensing remote organ damages. We explored the diagnostic and prognostic utilities of PSP in patients with suspected sepsis. Methods: In a total of 285 patients (suspected sepsis, n = 148; sepsis, n = 137), we compared PSP with procalcitonin (PCT) and sequential organ failure assessment (SOFA) score. Sepsis diagnoses were explored using receiver operating characteristic curve analyses with area under the curves (AUCs). Clinical outcomes (in-hospital mortality, 30-day mortality, and kidney replacement therapy [KRT]) were explored using the Kaplan–Meier method and a multivariate analysis with hazard ratio (HR). Results: PCT and PSP were comparable for sepsis diagnosis (AUC = 0.71–0.72, p < 0.001). The sepsis proportion was significantly higher when both biomarkers increased than when either one or both biomarkers did not increase (89.0% vs. 21.3–47.7%, p < 0.001). Each biomarker quartile (Q1–Q4) differed significantly according to their SOFA score (all p < 0.001). Compared with Q1, the Q2–Q4 groups showed worse clinical outcomes (p = 0.002–0.041). Both biomarkers added to the SOFA score showed higher HRs than the SOFA score alone (3.3–9.6 vs. 2.8–4.2, p < 0.001–0.011), with nearly 2.5-fold higher HR (9.6 vs. 4.2) for predicting KRT. Conclusions: Although PCT and PSP did not independently predict clinical outcomes in the multivariate analysis, PSP demonstrated diagnostic and prognostic utilities in patients with suspected sepsis, especially for predicting kidney dysfunction. PSP, alone or in combination with PCT, would be a valuable tool that can be added to clinical assessments. Full article
(This article belongs to the Special Issue Advances in Laboratory Markers of Human Disease)
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Review

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24 pages, 1155 KiB  
Review
The Role of Biomarkers in HPV-Positive Head and Neck Squamous Cell Carcinoma: Towards Precision Medicine
by Antea Krsek, Lara Baticic, Vlatka Sotosek and Tamara Braut
Diagnostics 2024, 14(13), 1448; https://doi.org/10.3390/diagnostics14131448 - 7 Jul 2024
Cited by 4 | Viewed by 2071
Abstract
Head and neck cancer (HNC) represents a significant global health challenge, with squamous cell carcinomas (SCCs) accounting for approximately 90% of all HNC cases. These malignancies, collectively referred to as head and neck squamous cell carcinoma (HNSCC), originate from the mucosal epithelium lining [...] Read more.
Head and neck cancer (HNC) represents a significant global health challenge, with squamous cell carcinomas (SCCs) accounting for approximately 90% of all HNC cases. These malignancies, collectively referred to as head and neck squamous cell carcinoma (HNSCC), originate from the mucosal epithelium lining the larynx, pharynx, and oral cavity. The primary risk factors associated with HNSCC in economically disadvantaged nations have been chronic alcohol consumption and tobacco use. However, in more affluent countries, the landscape of HNSCC has shifted with the identification of human papillomavirus (HPV) infection, particularly HPV-16, as a major risk factor, especially among nonsmokers. Understanding the evolving risk factors and the distinct biological behaviors of HPV-positive and HPV-negative HNSCC is critical for developing targeted treatment strategies and improving patient outcomes in this complex and diverse group of cancers. Accurate diagnosis of HPV-positive HNSCC is essential for developing a comprehensive model that integrates the molecular characteristics, immune microenvironment, and clinical outcomes. The aim of this comprehensive review was to summarize the current knowledge and advances in the identification of DNA, RNA, and protein biomarkers in bodily fluids and tissues that have introduced new possibilities for minimally or non-invasive cancer diagnosis, monitoring, and assessment of therapeutic responses. Full article
(This article belongs to the Special Issue Advances in Laboratory Markers of Human Disease)
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