Clinical biochemistryPub Date : 2025-12-01Epub Date: 2025-10-15DOI: 10.1016/j.clinbiochem.2025.111023
Hongmei Yang, Jianxing Guo, Guowei Ye, Dongxia Wang, Yimin Yang
{"title":"HFE related acute porphyria-like attack induced by severe influenza A pneumonia","authors":"Hongmei Yang, Jianxing Guo, Guowei Ye, Dongxia Wang, Yimin Yang","doi":"10.1016/j.clinbiochem.2025.111023","DOIUrl":"10.1016/j.clinbiochem.2025.111023","url":null,"abstract":"<div><div>This case report describes a patient with <em>HFE</em>-related acute porphyria-like attack triggered by severe influenza A pneumonia. The patient was admitted with fever, dyspnea, and abdominal pain and was diagnosed with severe influenza A pneumonia, acute respiratory failure, and septic shock. On the third day of hospitalization, the patient developed profound shock requiring mechanical ventilation and tested positive for influenza A virus. During treatment, significant liver dysfunction was observed, along with clinical manifestations including abdominal pain, loss of consciousness, and bilateral strabismus, suggesting neurological involvement. The diagnosis of acute porphyria-like attack was confirmed by positive urine porphobilinogen testing and genetic detection of a <em>HFE<sup>H63D</sup></em> mutation. This case highlights the importance of maintaining a high index of suspicion for porphyrin metabolism dysfunction in critically ill patients, particularly in the setting of infection or other precipitating factors. Timely diagnosis and management can significantly improve patient outcomes. These findings provide new insights into the clinical recognition of porphyria, especially in critically ill patients, and underscore the importance of multidisciplinary collaboration and meticulous diagnostic evaluation.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111023"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145312149","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":"Assessment of structural and functional characteristics of HDL and LDL in lung cancer patients in order to elucidate mechanisms of cholesterol metabolic pathways disorders","authors":"Milica Belic , Dragana Jovanovic , Milica Miljkovic Trailovic , Miron Sopic , Marina Roksandic-Milenkovic , Vesna Ceriman Krstic , Nemanja Dimic , Jelena Vekic , Aleksandra Zeljkovic , Jelena Kotur-Stevuljevic","doi":"10.1016/j.clinbiochem.2025.111012","DOIUrl":"10.1016/j.clinbiochem.2025.111012","url":null,"abstract":"<div><h3>Introduction</h3><div>Cholesterol metabolism dysregulation is recognized as one of the hallmarks of the cancer with highest mortality rate and the second most common malignancy – lung cancer (LC). LDL and HDL particles, the latter being carriers of the antioxidant paraoxonase-1 (PON1), were already proven to be altered in cancer patients. We have tried to investigate in more depth the cholesterol metabolism perturbances in LC, by analzying content of each of the LDL and HDL subclass and (anti)oxidative activity of each of the HDL subclass separately.</div></div><div><h3>Materials and Methods</h3><div>LDL and HDL subclasses from blood samples of 89 LC patients and 84 healthy subjects were separated and HDL subclasses PON1 activity assessed using Rainwater method and Gugliucci’s zymogram method, respectively.</div></div><div><h3>Results</h3><div>LC patients had higher relative proportion of HDL 2 particles, lower proportion of HDL 3 particles, and significantly lower activity of PON1 compared to control group (CG). Relative proportion of PON1 activity was higher on HDL 2b fraction and lower on all HDL 3 fractions of LC patients compared to CG. Relative proportions of LDL I and LDL II particles were increased, while proportions of LDL IV and small dense LDL particles were decreased in LC patients. Relative proportions of HDL and LDL subfractions and PON1 activities on HDL subfractions were found to be dependent on LC type and size, number of comorbidities and sites of progression, and overall response to therapy.</div></div><div><h3>Conclusion</h3><div>PON1 activity and lipoprotein subfractions distribution seem to be indicators of possible metabolic pathways (disorders) in LC.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111012"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145057324","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}
Clinical biochemistryPub Date : 2025-12-01Epub Date: 2025-08-31DOI: 10.1016/j.clinbiochem.2025.111005
Mesut Ates , Merve Ates , Mujgan Gurler , Murat Tasci , Ozgur Mehmet Yis
{"title":"How effective is serum FGL1 measurement in assessing disease activity: A cross-sectional study in rheumatoid arthritis","authors":"Mesut Ates , Merve Ates , Mujgan Gurler , Murat Tasci , Ozgur Mehmet Yis","doi":"10.1016/j.clinbiochem.2025.111005","DOIUrl":"10.1016/j.clinbiochem.2025.111005","url":null,"abstract":"<div><h3>Introduction</h3><div>In rheumatoid arthritis, which is an autoimmune inflammatory disease with multisystemic involvement, especially the joints, tracking disease activity is quite valuable in order to improve the quality of life of patients and to develop individualized treatment strategies. In this study, we evaluated the role of Fibrinogen-Like Protein 1 (FGL1), which has recently been shown to be associated with various rheumatological and autoimmune diseases, in disease diagnosis and activity in rheumatoid arthritis (RA).</div></div><div><h3>Material and Methods</h3><div>In this prospective study consisting of 108 RA patients divided into two groups as low disease activity-remission group (LDA) and moderate-high disease activity group (MHA) according to the Disease Activity Score 28-C-reactive protein score and 56 controls, serum FGL1 level was measured by Enzyme Linked ImmunoSorbent Assay (ELISA).</div></div><div><h3>Results</h3><div>Serum FGL1 level was found to be statistically significantly higher in RA patients compared to the control group, and in the MHA group compared to the LDA group. The mean FGL1 level was determined as 805.37 ng/ml in the LDA group, 1055.5 ng/ml in the MHA group and 652.31 ng/ml in the control group (p < 0.001). There was a positive correlation between FGL1 level and CRP, Erythrocyte Sedimentation Rate (ESR), CRP/Albumin levels.</div></div><div><h3>Conclusions</h3><div>Increased serum FGL1 levels were found to increase the likelihood of identifying patients with moderate-to-high disease activity RA. FGL1 is also effective in evaluating disease activity when used together with other inflammation markers, especially CRP/Albumin.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111005"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144921991","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}
Clinical biochemistryPub Date : 2025-12-01Epub Date: 2025-11-01DOI: 10.1016/j.clinbiochem.2025.111037
Liubing Li , Ying Yuan , Siting Yi , Tangdan Ding , Hongji Zhu , Qiong Shi , Hongxia Tan , Runzhao Li , Yuheng Liu , Hongxu Xu , Min Liu , Dong Wang , Ruizhi Wang
{"title":"Assessment of serum sST2 for cardiac involvement in idiopathic inflammatory myopathies","authors":"Liubing Li , Ying Yuan , Siting Yi , Tangdan Ding , Hongji Zhu , Qiong Shi , Hongxia Tan , Runzhao Li , Yuheng Liu , Hongxu Xu , Min Liu , Dong Wang , Ruizhi Wang","doi":"10.1016/j.clinbiochem.2025.111037","DOIUrl":"10.1016/j.clinbiochem.2025.111037","url":null,"abstract":"<div><h3>Objective</h3><div>To assess the diagnostic performance of soluble growth stimulation-expressed gene 2 (sST2) for cardiac involvement in patients with idiopathic inflammatory myopathies (IIMs).</div></div><div><h3>Methods</h3><div>From a cohort of 237 patients with IIMs, 86 were finally included and 18 exhibited cardiac involvement. The comparison of demographic, clinical, and laboratory parameters between IIM patients with and without cardiac involvement was conducted. Additionally, independent predictors for cardiac involvement and the diagnostic performance of sST2 were analyzed.</div></div><div><h3>Results</h3><div>The prevalence of cardiac involvement in IIMs was 20.9 %. The medians (interquartile range, IQR) of sST2 (65.6 [33.7–92.9] <em>vs.</em> 14.5 [7.8–25.4] μg/L) and N-terminal B-type pro-natriuretic peptide (NTproBNP, 120.2 [65.5–324.1] <em>vs.</em> 44.0 [16.8–104.6] ng/L) were significantly elevated in IIM patients with cardiac involvement compared with those without cardiac involvement. Multivariable logistic regression showed elevated levels of sST2 (OR = 3.936, 95 % CI 1.808–8.571, <em>P =</em> 0.001) and NTproBNP (OR = 2.308, 95 % CI 1.302–4.093, <em>P =</em> 0.004) were risk factors for cardiac involvement in IIM patients. The combined receiver operating characteristic (ROC) analysis of sST2 and NTproBNP indicated high diagnostic values in distinguishing IIM patients with cardiac involvement from those without cardiac involvement, with 94.4 % (95 % CI 72.2 %–99.7 %) sensitivity, 87.3 % (95 % CI 76.9 %–93.4 %) specificity, and 0.926 area under the ROC curve (95 % CI 0.840–1.000, <em>P</em> < 0.001).</div></div><div><h3>Conclusion</h3><div>sST2 serves as a valuable biomarker for detecting cardiac involvement in patients with IIMs.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111037"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145430371","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}
Clinical biochemistryPub Date : 2025-12-01Epub Date: 2025-09-29DOI: 10.1016/j.clinbiochem.2025.111020
Katie M. Troike, Adam J. McShane
{"title":"Re-evaluating ferritin thresholds to diagnose iron deficiency","authors":"Katie M. Troike, Adam J. McShane","doi":"10.1016/j.clinbiochem.2025.111020","DOIUrl":"10.1016/j.clinbiochem.2025.111020","url":null,"abstract":"<div><h3>Background</h3><div>Iron deficiency (ID) and iron deficiency anemia (IDA) are prevalent and treatable conditions which disproportionately affect women. Serum ferritin is the most sensitive biomarker for ID and IDA, but its utility in clinical decision making is limited by sex-specific reference intervals (RIs) that are frequently lower than evidence-based recommendations. The inclusion of asymptomatic, iron-depleted individuals in RI studies likely accounts for inappropriate ferritin thresholds, and a lower cutoff of 30 µg/L has been proposed by an expert consensus panel to improve sensitivity.<!--> <!-->In this study, we assessed ferritin RIs for diagnosing ID and IDA in our patient population.</div></div><div><h3>Methods</h3><div>Patient data, including age, sex assigned at birth, hemoglobin, and iron markers, were extracted from the laboratory information system (LIS). Patients were stratified into iron replete (IR), ID, or IDA groups based on measurements for iron, transferrin saturation, and hemoglobin. Ferritin values from the IR group were used to generate new reference ranges and receiver operator characteristic (ROC) curves were plotted to define optimal ferritin cutoffs for diagnosis of ID and IDA.</div></div><div><h3>Results</h3><div>Ferritin RIs generated from the IR group had lower limit cutoffs of 16.9 µg/L and 30 µg/L for females and males, respectively. Youden Index analysis of ROC curves identified optimal cutoffs of 45 µg/L and 70 µg/L for ID in females and males, respectively, improving diagnostic sensitivity by 44 % in the female group.</div></div><div><h3>Conclusions</h3><div>These findings are consistent with recommendations for increasing ferritin cutoffs and demonstrate the need for clinical laboratories to re-examine ferritin RIs, particularly for ID diagnosis in the female patient population.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111020"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205646","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}
Clinical biochemistryPub Date : 2025-12-01Epub Date: 2025-11-01DOI: 10.1016/j.clinbiochem.2025.111033
Ricardo Rubio-Sánchez , Alberto Izquierdo-Martínez , Sara Martínez-Rodríguez , Lucia Mezquita Romero , José Ángel Noval-Padillo , Daniel Fatela-Cantillo , Juan M. Guerrero
{"title":"Diagnosis of patients with IgM monoclonal gammopathy due to analytical interference","authors":"Ricardo Rubio-Sánchez , Alberto Izquierdo-Martínez , Sara Martínez-Rodríguez , Lucia Mezquita Romero , José Ángel Noval-Padillo , Daniel Fatela-Cantillo , Juan M. Guerrero","doi":"10.1016/j.clinbiochem.2025.111033","DOIUrl":"10.1016/j.clinbiochem.2025.111033","url":null,"abstract":"<div><h3>Introduction</h3><div>Blood hyperviscosity is a condition associated, in most cases, with Waldenström’s macroglobulinemia (WM) and other plasma cell dyscrasias, primarily due to the pentameric structure of immunoglobulin (Ig) M. Analytical interference in the determination of alanine aminotransferase with the Abbott Alinity c assay has recently been documented, related to increased blood viscosity as a result of a monoclonal component. The detection of this interference indicates a significant and isolated increase in the concentration of a single immunoglobulin, leading to the diagnosis of a previously unknown monoclonal gammopathy.</div></div><div><h3>Case description</h3><div>Thanks to the described interference and the expansion of analytical testing by the clinical laboratory, 15 patients with a previously unknown IgM monoclonal component were identified over 7 months. IgM levels ranged from 8.37 g/L, with a monoclonal component of 2.4 g/L, to 82.43 g/L, with a monoclonal component of 40.9 g/L. Ten patients were diagnosed with IgM monoclonal gammopathy of undetermined significance, one with asymptomatic biclonal gammopathy, and one with WM who presented with hyperviscosity syndrome, requiring plasmapheresis and treatment with rituximab-bendamustine.</div></div><div><h3>Discussion</h3><div>These cases highlight the importance of investigating laboratory test interferences, as they may be related to subclinical pathologies, such as monoclonal gammopathies. Detecting this interference and expanding laboratory testing can detect the pathology even before the appearance of related symptoms. This early identification allows for patient referral to the Hematology Department for appropriate follow-up, improving the prevention of complications and helping to make more timely therapeutic decisions.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111033"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145430376","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":"Phenotyping and genotyping for the dihydropyrimidine dehydrogenase test in Italy: a precise diagnostic strategy to detect rare variants and improve drug administration","authors":"Maria Lucia Tommolini , Mirco Zucchelli , Alberto Frisco , Rossella Ferrante , Beatrice Dufrusine , Claudia Palmarini , Luca Natale , Patrizia Ballerini , Liborio Stuppia , Luca Federici , Damiana Pieragostino , Ilaria Cicalini","doi":"10.1016/j.clinbiochem.2025.111010","DOIUrl":"10.1016/j.clinbiochem.2025.111010","url":null,"abstract":"<div><h3>Introduction</h3><div>Dihydropyrimidine dehydrogenase (DPD) is the enzyme implicated in the catabolism of the fluoropyrimidines (FP), a class of chemotherapeutics used to treat many cancers. The <em>DPYD</em> gene is known to have a huge number of variants potentially associated with DPD deficiency. Therefore, phenotypic and genotypic characterization of DPD is fundamental for cancer patients before undergoing treatment with FP. The AIOM (Italian Association of Medical Oncology) requires genetic analysis, with the purpose to identify a panel of 5 single nucleotide polymorphisms associated with 5-fluorouracil (5-FU)-induced toxicity, while the biochemical test, which measures uracil levels to predict the residual activity of DPD, is only recommended and not mandatory.</div></div><div><h3>Methods</h3><div>Single nucleotide polymorphisms were analyzed by real-time polymerase chain reaction (PCR) from peripheral blood. Uracil and dihydrouracil were quantified using an ultra-performance liquid chromatography/tandem mass spectrometry system in plasma obtained from patients before 5-FU treatment. Sanger sequencing was performed for the <em>DPYD</em> gene.</div></div><div><h3>Results</h3><div>Here, we describe the case of a 70-year-old Caucasian male patient with pancreatic cancer for whom real-time PCR highlighted a heterozygous pathogenic variant c.1905 + 1G > A associated with a 50 % reduction of DPD enzymatic activity. This finding was not confirmed by the biochemical test which revealed a complete absence of DPD activity. By performing Sanger sequencing, we highlighted the concomitant presence of a likely pathogenic variant c.2622 + 1G > A, not compatible with the administration of 5-FU.</div></div><div><h3>Conclusion</h3><div>Thus far, guidelines provide a limited panel for the identification of pathogenic or likely pathogenic variants of the <em>DPYD</em> gene, therefore we encourage the mandatory use of biochemical tests as a precise diagnostic strategy to detect rare variants and improve drug administration.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111010"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145052220","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}
Clinical biochemistryPub Date : 2025-12-01Epub Date: 2025-09-29DOI: 10.1016/j.clinbiochem.2025.111021
Yun Huang , Brendan Ly
{"title":"Establishing indicators to monitor the utilization of POC glucose meters in glycemic control","authors":"Yun Huang , Brendan Ly","doi":"10.1016/j.clinbiochem.2025.111021","DOIUrl":"10.1016/j.clinbiochem.2025.111021","url":null,"abstract":"<div><h3>Objectives</h3><div>The use of point-of-care (POC) glucose meters and effectiveness of glycemic control should be monitored as part of quality assurance practices. This study is the first to establish indicators to evaluate the utilization of glucose meters in our academic hospital.</div></div><div><h3>Methods</h3><div>Patient results from glucose meters located in emergency department (ED), intensive care units (ICUs), general wards, and neonatal units were extracted from the data management system for the months of October to December from 2021 to 2023. Six indicators were developed and compared across clinical units, including: glucose test number per meter, daily frequency of patient glucose testing 1–4 times (%), ratio of POC to core lab glucose testing, and percentages of patient glucose results within target ranges, below critical level 2.5 mmol/L, or above 25.0 mmol/L.</div></div><div><h3>Results</h3><div>The six indicators varied greatly between clinical units due to the differences in patient populations, clinical scenarios, and clinical guidelines. About 90 % of patients in general wards, ED and neonatal units were tested glucose 1–4 times/day, while 27.1 % patients in ICUs were tested glucose 5–10 times/day or more. The average POC/core lab glucose testing ratio in neonatal units, general wards, ICUs, and ED was 17.6, 14.9, 2.2, and 0.3, respectively. Overall, 69.6 % of patient glucose results in all clinical units fell within the target ranges. Percentages of patient glucose results below 2.5 mmol/L or above 25.0 mmol/L were both under 0.6 % across clinical units.</div></div><div><h3>Conclusions</h3><div>In this study, the indicators were able to assess the use of POC glucose meters and the effectiveness of glycemic control and to identify opportunities for quality improvement. The approach can be readily applied in other hospitals.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111021"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205702","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}
Clinical biochemistryPub Date : 2025-12-01Epub Date: 2025-10-22DOI: 10.1016/j.clinbiochem.2025.111030
Yubin Lei , Anik Forest , Caroline Daneault , Ying Liu , Kostas Pantopoulos , Adisak Tantiworawit , Arintaya Phrommintikul , Siriporn Chattipakorn , Nipon Chattipakorn , Christine Des Rosiers , Gary Sweeney
{"title":"Correlation of plasma lipidomic profiles with cardiometabolic disease in transfusion-dependent thalassemia patients with six-month N-acetylcysteine intervention: A prospective cohort study","authors":"Yubin Lei , Anik Forest , Caroline Daneault , Ying Liu , Kostas Pantopoulos , Adisak Tantiworawit , Arintaya Phrommintikul , Siriporn Chattipakorn , Nipon Chattipakorn , Christine Des Rosiers , Gary Sweeney","doi":"10.1016/j.clinbiochem.2025.111030","DOIUrl":"10.1016/j.clinbiochem.2025.111030","url":null,"abstract":"<div><h3>Objectives</h3><div>Oxidative stress, driven by iron imbalance from recurrent blood transfusions, is a major contributor to cardiometabolic complications in transfusion-dependent thalassemia (TDT). N-acetylcysteine (NAC), a glutathione precursor, is a well-known antioxidant with cardioprotective effects achieved by mitigating the impact of oxidative stress on cell metabolism. Current study aimed to evaluate the effect of a six-month NAC intervention by focusing on previously reported changes in the plasma lipidome in TDT patients.</div><div>Design & Methods</div><div>A randomized cohort of 62 Thai TDT patients was divided into two groups: both received six months of cocktail therapy involving standardized blood transfusions and iron chelator therapy, with the intervention group additionally receiving 600 mg oral NAC daily and the control group receiving a placebo. Plasma lipidomic profiling was performed using mass spectrometry to assess 339 previously annotated lipid features significantly altered in TDT patients. Clinical parameters, including heart rate variability (HRV), were measured before and after the intervention.</div></div><div><h3>Results</h3><div>NAC treatment significantly altered 152 plasma lipid features (P < 0.03), 78 of which were also altered in the placebo group. Importantly, 29 lipid features (26 unique lipids) were restored toward healthy control levels following NAC treatment. Within this subset, circulating diacylglycerophosphocholines PC(14:0_20:4) and cholesteryl ester CE 18:3 positively correlated with HRV, a clinical marker markedly improved in NAC-treated patients.</div></div><div><h3>Conclusions</h3><div>Six-month oral NAC intervention modified the plasma lipidomic profile in TDT patients, partially restoring lipid species likely disrupted by chronic oxidative stress. The observed correlation between NAC-responsive lipids and improved HRV suggests a potential cardioprotective effect. These findings highlight the potential of NAC as an adjunctive therapy to mitigate cardiometabolic complications in TDT.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111030"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145358079","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}
Clinical biochemistryPub Date : 2025-12-01Epub Date: 2025-10-10DOI: 10.1016/j.clinbiochem.2025.111028
Tiziana Zangardi , Sara Altinier , Monica Maria Mion , Michele Cennamo , Ada Aita , Silvia Bressan , Daniela Basso
{"title":"Myocardial damage in a 4-year old who ingested bisoprolol and hydrochlorothiazide – Incidental CK-BB highlighted other tissue toxicity","authors":"Tiziana Zangardi , Sara Altinier , Monica Maria Mion , Michele Cennamo , Ada Aita , Silvia Bressan , Daniela Basso","doi":"10.1016/j.clinbiochem.2025.111028","DOIUrl":"10.1016/j.clinbiochem.2025.111028","url":null,"abstract":"<div><h3>Introduction</h3><div>A 4-year-old girl accidentally ingested an unknown quantity of bisoprolol (2.5 mg)-hydrochlorothiazide (6.25 mg) pills. Initialy asymptomatic, laboratory testing revealed elevated concentrations of cardiac and skeletal muscle injury markers. This case provided insight into potential myocardial toxicity and bone remodeling effects of these antihypertensive medications following acute overdose ingestion.</div></div><div><h3>Materials and methods</h3><div>Upon admission, the patient underwent clinical and laboratory evaluations, which included electrocardiogram (ECG), echocardiography, blood gas analysis, and assessment of biochemical markers for cardiac injury (high sensitivity troponin [hs-TnI], N-terminal pro brain natriuretic peptide [NT-proBNP]) and bone turnover (parathyroid hormone [PTH], vitamin D, bone alkaline phosphatase [bALP], beta cross-laps [CTX]). Bisoprolol was measured in plasma and urine. Creatine kinase (CK) isoenzymes were performed on agarose gel electrophoresis. Activated charcoal was administered; fluids and electrolytes were closely monitored. Clinical and laboratory follow-up continued for two months.</div></div><div><h3>Results</h3><div>The child’s vital signs were stable, but a reduced heart rate (75 bpm) developed within 24 h. Elevated hs-TnI and NT-proBNP levels indicated myocardial stress, despite normal ECG and echocardiography findings. The CK-BB isoenzyme increased to 8 % of total CK by day 3. An increase of CTX along with decreased PTH and bALP, suggested thiazide-induced osteoclastic activation. Bisoprolol concentrations quickly decreased over 12 h. The patient was discharged in good condition after 36 h. All biomarkers normalized progressively during follow-up.</div></div><div><h3>Conclusions</h3><div>This case highlights subclinical myocardial toxicity and an unexpected bone remodeling after a pediatric overdose of bisoprolol-hydrochlorothiazide. CK-BB elevation, likely due to osteoclast activity, underscores the importance of monitoring skeletal biomarkers in thiazide exposures. Clinical recovery can occur before biochemical normalization, emphasizing the need for extended follow-up even in asymptomatic cases.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"140 ","pages":"Article 111028"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145273981","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}