Clinical biochemistry最新文献

{"title":"Prognostic value of human serum alpha-klotho concentrations in patients with heart failure with reduced ejection fraction","authors":"Ajay Mahenthiran ,&nbsp;Silvio Augusto Nunes Jr ,&nbsp;Chia-Feng Liu ,&nbsp;Steven Leon ,&nbsp;Jennifer Wilcox ,&nbsp;W.H. Wilson Tang","doi":"10.1016/j.clinbiochem.2026.111086","DOIUrl":"10.1016/j.clinbiochem.2026.111086","url":null,"abstract":"<div><h3>Objective</h3><div>Heart Failure (HF) is a major health problem with high prevalence and mortality. Identifying new biomarkers involved in controlling heart failure progression has become particularly important. This study evaluated the association between serum α-klotho concentrations and long-term all-cause mortality in patients with stable HF.</div></div><div><h3>Design and methods</h3><div>We analyzed serum α-klotho levels in 230 adults (135 patients with HF with reduced ejection fraction and 95 age and sex-matched healthy controls). A classification and regression tree analysis was used to stratify patients by α-klotho concentration, using all-cause mortality within a 5-year follow-up as the primary endpoint. Differences in log-NT-proBNP levels across α-klotho groups were assessed using the Kruskal-Wallis test with Dunn’s post-hoc comparisons. Kaplan-Meier survival analysis evaluated the association between α-klotho stratified groups and 5-year all-cause mortality.</div></div><div><h3>Results</h3><div>Patients with higher serum α-klotho levels had significantly lower mortality and lower log NT-proBNP across α-klotho groups (χ²(2) = 8.05, p = 0.018) when compared to lower α-klotho concentration levels. Kaplan-Meier curves show the significant difference in survival across α-klotho stratification (log-rank p &lt; 0.01).</div></div><div><h3>Conclusion</h3><div>Patients with higher serum α-klotho concentrations were associated with lower log-NT-proBNP levels and better 5-year survival in all patients as well as in patients with heart failure, compared to those with lower. These findings support the role of α-klotho as a promising cardioprotective biomarker for risk stratification in patients with HF.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"142 ","pages":"Article 111086"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146017552","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}

{"title":"Fibroblast growth factor 23-induced hypophosphatemia in a malignant phosphaturic mesenchymal tumor: presentation of a rare case","authors":"Diver Alexis Chicangana Tuquerres ,&nbsp;Andrés David Sastre Martínez ,&nbsp;Carlos Mário Barrios Herrera ,&nbsp;Paula Andrea Torres Pérez ,&nbsp;Carlos Fernando Acuña Roldán ,&nbsp;Gabriel Jaime Varela Aguirre ,&nbsp;Andres Felipe García Ramos","doi":"10.1016/j.clinbiochem.2026.111090","DOIUrl":"10.1016/j.clinbiochem.2026.111090","url":null,"abstract":"<div><h3>Introduction</h3><div>Tumor-induced osteomalacia is a rare paraneoplastic disorder caused by excess fibroblast growth factor 23 (FGF23), most often produced by phosphaturic mesenchymal tumors. Delayed diagnosis may result in severe metabolic and skeletal complications.</div></div><div><h3>Case presentation</h3><div>We report the case of a 32-year-old woman with a three-year history of progressive weakness and a rapidly enlarging thoracic mass. Imaging revealed an 18 × 13 cm highly vascularized thoracic lesion with multiple lytic bone metastases. Laboratory evaluation showed severe hypophosphatemia (0.9 mg/dL), renal phosphate wasting (fractional excretion of phosphate 24.5%), elevated intact parathyroid hormone, low vitamin D levels, and markedly increased serum FGF23 (7926 kRU/L). Histopathological examination and immunohistochemistry demonstrated a malignant phosphaturic mesenchymal tumor with positivity for CD56, SATB2, and SSTR2A.</div></div><div><h3>Discussion</h3><div>This case highlights the aggressive clinical behavior that malignant phosphaturic mesenchymal tumors may exhibit, including extensive local invasion, metastatic disease, and profound metabolic derangements. The diagnosis of tumor-induced osteomalacia requires a high index of suspicion and an integrated approach combining biochemical evaluation, functional imaging, and detailed pathological assessment.</div></div><div><h3>Conclusions</h3><div>Tumor-induced osteomalacia should be considered in patients with persistent hypophosphatemia and phosphate wasting. Early recognition is essential, as complete surgical resection remains the only curative option. In advanced or unresectable disease, management is challenging and may be limited by tumor burden and access to targeted therapies, including anti-FGF23 agents, which offer biochemical and symptomatic benefit in selected cases.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"142 ","pages":"Article 111090"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146060482","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}

{"title":"Hemoglobin Chapel Hill masquerading as hemoglobin S in newborn sickle cell screening: A case study","authors":"Natalia Volodko ,&nbsp;Michelle L. Parker ,&nbsp;Ross Ridsdale ,&nbsp;Lauren MacNeil ,&nbsp;Iveta Sosova ,&nbsp;Mathew P. Estey ,&nbsp;Dustin Proctor ,&nbsp;Lily Olayinka ,&nbsp;Ashley Newbigging ,&nbsp;Pierre Bordeleau ,&nbsp;Maggie Powell ,&nbsp;Victoria Higgins","doi":"10.1016/j.clinbiochem.2026.111081","DOIUrl":"10.1016/j.clinbiochem.2026.111081","url":null,"abstract":"<div><h3>Background</h3><div>Newborn screening for hemoglobinopathies is an effective tool for the early detection of clinically significant conditions, such as sickle cell disease. High-performance liquid chromatography (HPLC) is broadly used as it enables high-throughput automation and detection of clinically significant variants using minimal sample volumes. However, it may misidentify hemoglobin variants due to overlapping retention times.</div></div><div><h3>Case report</h3><div>Abnormal sickle cell screening results in a newborn female, including a peak in the hemoglobin S window, prompted hemoglobinopathy investigation. Capillary electrophoresis results suggested a possible alpha chain variant. Genetic testing revealed four distinct alterations, including a hemizygous HBA2 c.224A &gt; G (p.Asp75Gly) variant, known as Hb Chapel Hill, and a 3.7 kb alpha-globin gene deletion consistent with an alpha-thalassemia silent carrier state.</div></div><div><h3>Conclusion</h3><div>This case represents the first documented occurrence of Hb Chapel Hill in an infant. Gamma globin production alongside Hb Chapel Hill results in a HbS zone peak on both HPLC and capillary electrophoresis, posing an interpretive challenge. Considering the complete pattern of peaks observed in hemoglobin fractionation methods can help distinguish clinically relevant conditions from likely benign profiles. Molecular analysis in complex cases is essential for confirmation of the suspected diagnosis.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"142 ","pages":"Article 111081"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146008949","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}

{"title":"Clinical Labs: Working with planetary health for patient health","authors":"Andre Mattman,&nbsp;Janet Simons","doi":"10.1016/j.clinbiochem.2026.111082","DOIUrl":"10.1016/j.clinbiochem.2026.111082","url":null,"abstract":"<div><div>This article reflects on the relationship between Planetary Health and healthcare workers in 2025. As clinical chemistry specialists working within the healthcare system, attention to the health of the patients who utilize our portion of the healthcare system now extends beyond provision of information. How we provide that information, how often we provide this information, and how extensive the information is that we do provide impacts Planetary Health – the major determinant of health for our patients born this year and thereafter. We summarize the importance of looking at this broader view of health as lab specialists have agency in effecting how clinical labs operate in the remainder of this century. Our position is that this agency should be in alliance with Planetary Health for the benefit of our patient’s health in the next generations. We recognize the patient born today, a 50 year old in 2075, as a Patient Advocate Virtual (PAV) who could symbolically be present in decision making in the clinical lab – and throughout the healthcare system – to remind us of the importance of caring for Planetary health tomorrow while we care for patients today.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"142 ","pages":"Article 111082"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146050640","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}

{"title":"Best practice recommendations for laboratory analysis and reporting of cerebrospinal fluid oligoclonal banding and associated tests for multiple sclerosis (MS): a consensus report from the harmonized CSF analysis for MS investigation (hCAMI) subcommittee of the Canadian society of clinical chemists (CSCC)","authors":"Victoria Higgins ,&nbsp;Michelle L. Parker ,&nbsp;Basma Ahmed ,&nbsp;Vipin Bhayana ,&nbsp;Ronald A. Booth ,&nbsp;Yu Chen ,&nbsp;Christine Collier ,&nbsp;Mark S. Freedman ,&nbsp;Myriam Gagné ,&nbsp;Ola Z. Ismail ,&nbsp;Jessica L. Gifford ,&nbsp;Joseph Macri ,&nbsp;Craig S. Moore ,&nbsp;Ashley Newbigging ,&nbsp;Lily Olayinka ,&nbsp;Ilia Poliakov ,&nbsp;Karina Rodriguez-Capote ,&nbsp;Raphael Schneider ,&nbsp;Simon Thebault ,&nbsp;Liju Yang ,&nbsp;Daniel R. Beriault","doi":"10.1016/j.clinbiochem.2026.111098","DOIUrl":"10.1016/j.clinbiochem.2026.111098","url":null,"abstract":"<div><div>Cerebrospinal fluid (CSF) oligoclonal banding (OCB) analysis is an important component in the diagnosis of multiple sclerosis (MS). In the 2024 McDonald Criteria for MS diagnosis, CSF-specific OCB can support MS diagnosis, including in those with relapsing or progressive presentations, as well as radiologically isolated syndrome and other non-specific presentations. Despite its clinical importance, laboratory guidelines for analysis and reporting of CSF OCB testing are largely lacking. To address this gap, the Harmonized CSF Analysis for MS Investigation (hCAMI) Subcommittee of the Canadian Society of Clinical Chemists (CSCC) was established to develop evidence-based best practice recommendations for CSF OCB and associated tests and indices. The hCAMI subcommittee is comprised of clinical chemists representing all Canadian laboratories performing CSF OCB testing, and neurologists and a neuroimmunologist from across Canada. Six key areas were identified for harmonization: quality assurance, specimen pairing and timing, reporting of CSF-specific bands, interpreting mirror patterns, band intensity mismatch, reported panel components, and reference intervals/decision limits. Recommendations were informed by national surveys on laboratory practices and clinician preferences, a comprehensive literature review, and original studies addressing evidence gaps. A modified Delphi process, conducted over three iterations, was used to refine and attempt to achieve consensus on 25 draft statements. Of these, 24 achieved consensus (≥80% agreement) and form the final set of hCAMI recommendations. These best practice recommendations aim to promote consistency, accuracy, and clinical utility of CSF OCB testing for MS diagnosis in Canada. While implementation will depend on local resources and workflows, alternative approaches are discussed where appropriate. This initiative establishes a foundation for national harmonization of CSF OCB analysis and supports future integration of best laboratory practices into clinical guidelines.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"142 ","pages":"Article 111098"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146199888","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}

{"title":"Evaluating prognostic performance for acute delta changes of high-sensitivity cardiac troponin T in emergency department patients","authors":"Fang Wu ,&nbsp;Tanzy Love ,&nbsp;Xueya Cai ,&nbsp;Andrew Mathias ,&nbsp;Kent B. Lewandrowski ,&nbsp;Li Liu","doi":"10.1016/j.clinbiochem.2026.111103","DOIUrl":"10.1016/j.clinbiochem.2026.111103","url":null,"abstract":"<div><h3>Objectives</h3><div>To evaluate the prognostic value of 0/1h and 0/3h high-sensitivity cardiac troponin T (hs-cTnT) delta values for 30-day and 1-year all-cause mortality among emergency department (ED) patients.</div></div><div><h3>Methods</h3><div>This retrospective study included two study cohorts from two academic medical centers. Cohort 1 included 18,022 ED patients with hs-cTnT measured using 0/3h algorithm, and Cohort 2 included 5,003 ED patients with hs-cTnT tested using 0/1h algorithm. hs-cTnT deltas were stratified into four categories: &lt;4, 4–7, 8–11, and ≥12 ng/L for 0/3h testing, and &lt;3, 3–5, 6–8, and ≥9 ng/L for 0/1h testing. Kaplan-Meier analysis, multivariable Cox proportional hazard models, and multivariable logistic regression models were performed to assess the prognostic values of 1 h and 3 h delta hs-cTnT for mortality.</div></div><div><h3>Results</h3><div>0/1h and 0/3h hs-cTnT deltas were significantly higher in patients who died within 30 days or 1 year compared with survivors. After adjustment for baseline hs-cTnT, age, sex, and eGFR, a 3 h delta ≥4 ng/L was associated with approximately 2-fold higher 30-day mortality and 1.6-fold higher 1-year mortality; ≥12 ng/L was associated with approximately 4-fold and 2-fold increases in mortality risk, respectively. The 1 h delta showed similar predictive performance. In continuous log2-transformed models, each doubling of delta hs-cTnT increased the 30-day and 1-year mortality by 22% and 11% in the 0/3h algorithm and by 14% and 10% in the 0/1h algorithm. Incorporating delta hs-cTnT into multivariable logistic models improves model performance, with higher AUCs and lower AICs than models with baseline hs-cTnT alone.</div></div><div><h3>Conclusions</h3><div>Acute hs-cTnT delta changes provide strong and independent prognostic information for all-cause mortality in ED patients. Incorporating delta hs-cTnT into ED risk stratification may support early identification of high-risk patients.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"142 ","pages":"Article 111103"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146775981","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}

{"title":"Inter-laboratory variability in vancomycin measurement in an external quality assessment scheme 2016–2025","authors":"Anders Larsson ,&nbsp;Jonathan Cedernaes ,&nbsp;Mats B. Eriksson ,&nbsp;Anders Helldén ,&nbsp;Moa Skarin ,&nbsp;Päivi Ranta ,&nbsp;Mathias Karlsson ,&nbsp;Anna-Karin Hamberg","doi":"10.1016/j.clinbiochem.2026.111096","DOIUrl":"10.1016/j.clinbiochem.2026.111096","url":null,"abstract":"<div><h3>Introduction</h3><div>Vancomycin is a critical antibiotic for treating severe Gram-positive infections. Due to its narrow therapeutic window, reliable plasma concentration measurements are essential for dose adjustment and avoiding toxicity. However, method-dependent analytical variability between immunoassay platforms may compromise result comparability.</div></div><div><h3>Methods</h3><div>Data from 78 external quality assurance (EQA) samples distributed between 2016 and 2025 by Labquality (Helsinki, Finland) and Equalis (Uppsala, Sweden) were analyzed. Results from laboratories using immunoassays from Abbott Laboratories (n = 1391), Beckman Coulter (n = 172), Roche Diagnostics (n = 3584), Ortho Clinical Diagnostics (n = 78), Siemens Healthineers (n = 1670), Thermo Fisher (n = 152), and ARK Diagnostics (n = 33) were included (total = 7104). The mean consensus value for each sample was used as reference.</div></div><div><h3>Results</h3><div>Across the study period, Abbott Laboratories (+4.7%), Thermo Fisher (+12%), Ortho Clinical Diagnostics (−4.6%), and Siemens Healthineers (−4.9%) showed systematic biases relative to the consensus mean, whereas Beckman Coulter (−0.3%), Roche Diagnostics (&lt;0.1%), and ARK Diagnostics (−2.4%) displayed good agreement. Temporal trends indicated method-specific drifts, most notably for Beckman Coulter (−20.2%) and Siemens Healthineers (+12.5%). Coefficients of variation ranged from 0.9% (ARK Diagnostics) to 12.1% (Beckman Coulter).</div></div><div><h3>Conclusion</h3><div>Considerable intermethod bias and temporal drift exist among commonly used vancomycin immunoassays, underscoring the need for improved calibration harmonization and traceability to ensure consistent therapeutic drug monitoring.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"142 ","pages":"Article 111096"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146140606","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}

{"title":"Application of thrombosis-related biomarkers in the diagnosis and thrombosis risk stratification of heparin-induced thrombocytopenia patients","authors":"Huiping Wang ,&nbsp;Pengju Lv ,&nbsp;Chenxue Qu ,&nbsp;Shoukui Hu","doi":"10.1016/j.clinbiochem.2026.111095","DOIUrl":"10.1016/j.clinbiochem.2026.111095","url":null,"abstract":"<div><h3>Objective</h3><div>To evaluate thrombomodulin (TM), thrombin–antithrombin complex (TAT), plasmin–α2-plasmin inhibitor complex (PIC), tissue-plasminogen activator–inhibitor complex (t-PAIC), and D-dimer for diagnosing heparin-induced thrombocytopenia (HIT) and stratifying thrombosis risk.</div></div><div><h3>Methods</h3><div>A total of 221 patients with suspected HIT were classified as HIT-positive (HIT+) or HIT-negative (HIT−), with HIT+ further stratified by thrombosis (HITT+/HITT − ). We collected clinical variables and identified HIT risk factors using multivariable logistic regression. Group differences in TM, TAT, PIC, t-PAIC, and D-dimer were assessed, diagnostic performance was examined using receiver operating characteristic (ROC) curves, and correlations were tested with Spearman’s rank correlation. Kaplan–Meier analysis estimated the 15-day cumulative incidence of thrombosis in HIT patients stratified by TAT.</div></div><div><h3>Results</h3><div>Elevated 4T scores and HIT antibody levels were independent risk factors for HIT. TM, TAT, and D-dimer levels were higher in HIT+ versus HIT−. Only TAT was elevated in HITT+ versus HITT−, correlating positively with HIT antibodies. For diagnosing HIT, the areas under the curve (AUCs) for TM, TAT, and D-dimer were 0.712, 0.735, and 0.721, respectively. The combination of these three markers yielded the highest efficacy (AUC = 0.807). TAT showed predictive value for thrombosis among HIT patients; a threshold of 12.11 µg/L yielded the best performance. Kaplan–Meier analysis demonstrated a significantly higher 15-day thrombosis risk for patients with TAT ≥ 12.11 µg/L vs. &lt; 12.11 µg/L.</div></div><div><h3>Conclusion</h3><div>TM, TAT, and D-dimer can serve as auxiliary biomarkers for HIT diagnosis, with combined use improving accuracy. Notably, TAT may be useful in guiding risk-stratified anticoagulation therapy based on thrombotic risk.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"142 ","pages":"Article 111095"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146141273","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}

{"title":"Genomic sequencing enhances metabolic newborn screening in Thailand","authors":"Chulaluck Kuptanon ,&nbsp;Pawinee Innark ,&nbsp;Kannikar Punnapum ,&nbsp;Supaporn Nammoonnoy ,&nbsp;Rotjanapan Pankanjanato ,&nbsp;Maliwan Numnuan ,&nbsp;Orapan Sripichai ,&nbsp;Sukanya Wattanapokayakit ,&nbsp;Punna Kunhapan ,&nbsp;Ekke Kunphol","doi":"10.1016/j.clinbiochem.2026.111107","DOIUrl":"10.1016/j.clinbiochem.2026.111107","url":null,"abstract":"<div><h3>Objectives</h3><div>Thailand expanded metabolic newborn screening (NBS) program to include inherited metabolic diseases (IMDs) using tandem mass spectrometry since 2022. Molecular testing has increasingly been used as a second-tier tool to clarify ambiguous results or confirm diagnosis for abnormal metabolic NBS screening. This study aimed to assess the performance of whole genome sequencing (WGS) as a second-tier test for abnormal IMD screening results in Thai neonates.</div></div><div><h3>Design and methods</h3><div>From August 2023 to December 2024, neonates with abnormal IMD screens were recruited for WGS, in addition to the routine biochemical confirmation.</div></div><div><h3>Results</h3><div>Seventy-four newborns and 27 mothers were included in the study. Biochemical testing confirmed 40 IMDs, 12 borderline, and 21 normal cases, while WGS identified 3 additional IMDs and 8 carriers. Among 73 newborns, WGS identified 41 IMD cases and 32 normal (22 carriers), achieving 95% sensitivity, 100% specificity, 100% positive predictive value, and 97% negative predictive value. WGS refined disease subtypes, resolved borderline amino acid abnormalities, and guided individualized management. Limitations included missed large structural variants and lower sensitivity for detecting single heterozygous variants, emphasizing that molecular testing complements rather than replaces biochemical confirmation.</div></div><div><h3>Conclusions</h3><div>WGS as a second-tier test enhances diagnostic precision, clarifies ambiguous NBS results, supports early, targeted intervention, and precision care in Thai newborns.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"142 ","pages":"Article 111107"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147269573","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}

{"title":"Laboratory medicine and sustainability: towards a green lab","authors":"Andre Mattman,&nbsp;Janet Simons","doi":"10.1016/j.clinbiochem.2025.111072","DOIUrl":"10.1016/j.clinbiochem.2025.111072","url":null,"abstract":"<div><div>This article introduces the special issue of Clinical Biochemistry that focuses on sustainability in laboratory medicine.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"142 ","pages":"Article 111072"},"PeriodicalIF":2.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145917212","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}