Advances in laboratory medicine最新文献

{"title":"When rare diseases do not appear as a single entity.","authors":"Isabel Solares, Estibaliz Alegre, Inmaculada Colina, Juan Jose Gavira, Beatriz Alvarez de Sierra, Sara Llorente-Gonzalez, Álvaro Gonzalez","doi":"10.1515/almed-2025-0193","DOIUrl":"10.1515/almed-2025-0193","url":null,"abstract":"<p><strong>Objectives: </strong>The coexistence of multisystemic involvement in a young adult raises the need to consider rare metabolic and mitochondrial disorders. We report a case of late-onset propionic acidemia (PPA) that may have contributed to unmasking Leber hereditary optic neuropathy (LHON), an extremely infrequent association.</p><p><strong>Case presentation: </strong>A 43-year-old woman presented with acute biventricular heart failure following a viral infection. Evaluation revealed severe dilated cardiomyopathy, newly diagnosed type 2 diabetes mellitus, and bilateral sensorineural hearing loss. Genetic testing for cardiomyopathy was unremarkable. Two months later, she developed sudden bilateral blindness due to optic neuropathy. Extended genetic analysis identified a pathogenic <i>RDH12</i> variant consistent with LHON and two <i>POLG</i> variants. Progressive renal dysfunction and long QTc interval prompted metabolic investigation. Urine organic acids showed marked accumulation of propionate-related metabolites, and plasma acylcarnitines revealed elevated C3 and low free carnitine, confirming late-onset PPA. The pattern of cardiac dysfunction, renal impairment, and hearing loss was consistent with chronic multisystem toxicity of PPA.</p><p><strong>Conclusions: </strong>In this patient, mitochondrial dysfunction from PPA may have precipitated the clinical expression of LHON, a condition with incomplete penetrance. This exceptional coexistence highlights that rare diseases may overlap and that unexplained multisystem findings warrant comprehensive metabolic and genetic evaluation.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"7 3","pages":"234-237"},"PeriodicalIF":1.1,"publicationDate":"2026-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13552808/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148914426","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Routine biochemical indices for hepatometabolic stratification across the dysglycaemia spectrum: insulin resistance, fibrosis scores, and machine-learning integration.","authors":"Pedro Villafruela-Rodríguez-Manzaneque, Jordi Tortosa-Carreres, Antonio Sierra-Rivera, Manuela Morales-Garcés, Laura Sahuquillo-Frias, Goitzane Marcaida-Benito","doi":"10.1515/almed-2026-0066","DOIUrl":"10.1515/almed-2026-0066","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the behaviour of insulin resistance indices and non-invasive liver fibrosis scores across the dysglycaemia spectrum using routine laboratory data.</p><p><strong>Methods: </strong>This retrospective observational study included 1,949 outpatients with complete biochemical profiles. Patients were classified into five groups according to fasting plasma glucose and HbA_1c: group A (normoglycaemia), group B (isolated impaired fasting glucose), group C (isolated elevated HbA_1c), group D (combined impairment), and group E (type 2 diabetes mellitus, T2DM). Insulin resistance indices (HOMA-IR, HOMA-β, QUICKI, TyG), liver fibrosis scores (FIB-4, APRI, m-APRI, Forns), and inflammatory markers (CRP, ferritin) were compared across groups. Discriminative performance was assessed using ROC analysis for the identification of T2DM (group E vs. groups A-D) and early dysglycaemic impairment (group D vs. group A). Support vector machine (SVM) models integrating the best-performing indices were constructed with adjustment for age and sex.</p><p><strong>Results: </strong>Insulin resistance indices, fibrosis scores, and CRP showed progressive deterioration across worsening glycaemic stages (p<0.001). TyG showed the highest individual discriminative performance for identifying T2DM (AUC=0.90), whereas QUICKI performed best for detecting combined early glycaemic impairment (AUC=0.78). Among fibrosis scores, the Forns index showed the strongest discriminative capacity (AUC=0.67-0.74) and the broadest correlations with metabolic and inflammatory parameters. SVM models integrating insulin resistance and fibrosis indices improved classification performance compared with individual markers alone (AUC=0.87-0.93).</p><p><strong>Conclusions: </strong>TyG and the Forns index support laboratory-based hepatometabolic stratification across the dysglycaemia spectrum using routine analytical data.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"7 3","pages":"211-221"},"PeriodicalIF":1.1,"publicationDate":"2026-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13552813/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148914504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Systematic Duffy phenotyping reveals high prevalence of Duffy-null genotype among neutropenic patients.","authors":"Leire Saiz Sierra, Núria Ferrando Núñez, Maite Serrando Querol, Anna Marull Arnall","doi":"10.1515/almed-2026-0059","DOIUrl":"10.1515/almed-2026-0059","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"7 3","pages":"238-240"},"PeriodicalIF":1.1,"publicationDate":"2026-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13552807/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148914439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of LN34 real-time PCR assay for detection of rabies virus in human and animal specimens.","authors":"Lonika Lodha, Manoor Ananda Ashwini, Sathya Priya Manuel, Arpita Maladakar, Shubhangi Chandel, Preeti Soundarya Bhalke, Shrinivas Navya, Kuntanahalli Narayanaswamy Krupa, Shrikrishna Isloor, Balaji Chandrashekar, Anita Mahadevan, Reeta S Mani","doi":"10.1515/almed-2025-0197","DOIUrl":"10.1515/almed-2025-0197","url":null,"abstract":"<p><strong>Objectives: </strong>Rabies, a neglected zoonotic encephalitis caused by lyssaviruses, claims around 59,000 lives annually. PCR-based methods are pivotal for laboratory confirmation of rabies in humans and animals. The LN34 pan-lyssavirus real time PCR assay has demonstrated good diagnostic performance in detecting rabies viral RNA in extensive evaluations with animal brain tissues. However, its application has not been adequately evaluated on human samples.</p><p><strong>Methods: </strong>This study assessed the utility of the LN34 assay on human brain tissues, and antemortem samples such as cerebrospinal fluid, saliva and nuchal skin. Furthermore, this assay was also evaluated using postmortem dog saliva samples, in addition to animal brain samples.</p><p><strong>Results: </strong>Compared to the gold-standard fluorescent antibody test (FAT), the LN34 assay showed 100 % sensitivity and specificity for both human and animal brain samples. For human antemortem samples, there was perfect agreement between the LN34 assay and routine real-time RT-PCR for detection of rabies virus (RABV). Similarly, there was complete agreement between the two assays when testing dog saliva samples. The sensitivity and specificity of saliva LN34 assay in laboratory-confirmed rabid dogs was 50 and 100 % respectively.</p><p><strong>Conclusions: </strong>The LN34 assay is a suitable alternative for diagnosis and surveillance of rabies in humans and animals in an area endemic for rabies lyssavirus.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"7 3","pages":"222-228"},"PeriodicalIF":1.1,"publicationDate":"2026-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13552806/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148914415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular genetics in laboratory medicine: from foundations to the future of precision diagnostics.","authors":"Giuseppe Lippi, Giorgia Beffagna","doi":"10.1515/almed-2026-0087","DOIUrl":"10.1515/almed-2026-0087","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"7 3","pages":"167-170"},"PeriodicalIF":1.1,"publicationDate":"2026-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13552802/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148914406","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Modern LDL-C estimation equations and therapeutic reclassification: a laboratory medicine perspective.","authors":"Jordi Tortosa-Carreres, Begoña Laiz-Marro","doi":"10.1515/almed-2026-0074","DOIUrl":"10.1515/almed-2026-0074","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"7 3","pages":"241-244"},"PeriodicalIF":1.1,"publicationDate":"2026-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13552809/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148914436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Medium-term biological variation of sodium, potassium and chloride in whole blood in cohorts of healthy individuals and hemodialysis patients.","authors":"Berta Sufrate-Vergara, Isabel Moreno-Parro, Pilar Fernández-Calle, Aasne K Aarsand, Sverre Sandberg, Anna Carobene, Roberto Mora Corcovado, Daniel Prieto Arribas, Antonio Buño Soto, Paloma Oliver, Blanca Beumer Prieto, José Manuel Hidalgo, Ana Cristina Mendoza, Sara Julia Molina, Nuria Alert, Ana Monreal, Jorge Díaz-Garzón Marco","doi":"10.1515/almed-2026-0012","DOIUrl":"10.1515/almed-2026-0012","url":null,"abstract":"<p><strong>Objectives: </strong>Biological variation (BV) refers to the fluctuation of the concentration of a measurand around its homeostatic set-point. While BV has been extensively studied in healthy populations, robust data for patients with chronic diseases, particularly using whole blood measurements, remain scarce. The aim of this study was to obtain BV estimates for electrolytes in whole blood for a cohort of healthy individuals and one of hemodialysis patients (HD) and compare them with each other.</p><p><strong>Methods: </strong>A prospective BV study was conducted in 18 stable HD patients and 26 healthy individuals. Whole blood potassium, sodium and chloride concentrations were measured weekly for 12 consecutive weeks using a direct potentiometry blood gas analyser. Preanalytical conditions were standardised. BV estimates were delivered using both CV-ANOVA and Bayesian methods. Population homogeneity was assessed using the Harris-Brown heterogeneity ratio, and the index of individuality was calculated for each measurand.</p><p><strong>Results: </strong>Significant differences in BV estimates were observed between groups. BV estimates were higher in HD patients for most measurands. Within the healthy group, whole blood within-subject (CV_I) estimates were higher than those reported for serum/plasma in the literature. Heterogeneity analyses indicated non-homogeneous CV_I distributions for sodium and potassium in HD patients.</p><p><strong>Conclusions: </strong>This study provides the first BIVAC-compliant BV estimates for electrolytes measured in whole blood. These results highlight significant disease-related differences in BV and support the need for disease- and matrix-specific reference tools to enable personalised interpretation of electrolyte results in hemodialysis monitoring.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"7 3","pages":"193-201"},"PeriodicalIF":1.1,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13552970/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148914431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A machine-learning capillary electrophoresis-based pattern to identify suspected sickle cell trait and α-thalassemia co-inheritance.","authors":"David Ceacero-Marín, Anna Cortés Bosch de Basea, Isabel Puig-Pey Comas, Mónica Vidal Pla, Lourdes Sánchez Navarro","doi":"10.1515/almed-2026-0045","DOIUrl":"10.1515/almed-2026-0045","url":null,"abstract":"<p><strong>Objectives: </strong>Sickle cell trait (HbAS) and α-thalassemia are common conditions. Although their hematological laboratory findings have been extensively characterized individually, there is limited evidence on the hematological pattern when they are co-inherited. Early and simple diagnosis of HbAS/α-thalassemia allows for optimization of the clinical approach and provision of appropriate genetic counselling. The objective is to identify, using machine learning algorithms, the most relevant hematological quantities and to establish a useful cut-off value for screening patients with suspected HbAS/α-thalassemia.</p><p><strong>Methods: </strong>A database containing 235 patients carrying HbAS was obtained from the laboratory information system. The following variables were collected: hemoglobin and erythrocytes concentration, mean corpuscular volume (MCV), and the fractions of hemoglobin S (%HbS), A (%HbA), A2 and F. A multivariate clustering analysis was performed using the k-means algorithm to divide the dataset into two subgroups: HbAS and suspected HbAS/α-thalassemia. ROC curve was constructed for each variable to identify patients with suspected HbAS/α-thalassemia.</p><p><strong>Results: </strong>Patients with %HbS <37.6 % and %HbA >59 % were classified as suspected HbAS/α-thalassemia with 100 % sensitivity, 97.7 % specificity and AUC [95 % CI] of 0.989 [0.977-0.997]. Patients with suspected HbAS/α-thalassemia exhibited significantly lower hemoglobin concentrations (p=0.008), MCV (p<0.001) and %HbS (p<0.001). In contrast, significantly higher erythrocyte concentrations and %HbA (p<0.001) were observed, compared to HbAS alone.</p><p><strong>Conclusions: </strong>The proposed discriminant values enable suspected cases of HbAS/α-thalassemia to be identified. This facilitates the prioritization of genetic testing for α-thalassemia to be conducted, the provision of genetic and family counselling, and the risk to be accurately assessed for these patients.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"7 3","pages":"202-210"},"PeriodicalIF":1.1,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13552811/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148914441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recommendations for optimizing the use of dysmorphic red blood cell counts in the clinical laboratory.","authors":"Oscar D Pons-Belda, María José Ferri, Alejandro Almería-Lafuente, Cristina Izquierdo-Álvarez, Sergio Luis-Lima, Miriam Menacho-Román, Mario Román-Cabezas, Marta Sáenz-Valls, Elena Togores-Pérez, Patricia Fernández-Riejos","doi":"10.1515/almed-2026-0048","DOIUrl":"10.1515/almed-2026-0048","url":null,"abstract":"<p><p>The assessment of dysmorphic red blood cells (RBCs) is of significant clinical interest in the evaluation of haematuria, particularly as a key tool for suggesting a possible glomerular origin. However, its actual utility depends on cautious, context-based interpretation supported by well-defined technical requirements. The lack of universal standardization, interobserver variability, and the influence of preanalytical factors continue to contribute to the heterogeneous implementation of this test in clinical practice. This document provides recommendations aimed at optimizing its use in the clinical laboratory. It reviews the underlying pathophysiological basis, principal indications, and the preanalytical and analytical conditions required to ensure reliable evaluation, as well as its integration with other findings from urinalysis and renal biochemistry. In this regard, erythrocyte dysmorphism should not be considered an isolated test, but rather a complementary parameter whose diagnostic performance improves when interpreted alongside proteinuria or albuminuria, renal function, the presence of pathological casts, and the patient's clinical context. Furthermore, the importance of a selective approach is emphasized, prioritizing clinical scenarios with higher diagnostic yield, such as persistent microhaematuria, haematuria associated with proteinuria, or suspected glomerular disease. Finally, guidance criteria are proposed for reporting and for integration into multidisciplinary clinical algorithms. Overall, these recommendations aim to promote a more rational, harmonized, and clinically meaningful use of dysmorphic RBC counts within advanced urinalysis.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"7 3","pages":"171-178"},"PeriodicalIF":1.1,"publicationDate":"2026-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13552805/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148914408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Appearances can be deceptive: acute myeloid leukaemia simulating chronic lymphocytic leukaemia.","authors":"Beatriz Gómez Horsefield, David Cruz García, Ana Garzó Moreno, Esperanza Tuset Andujar, Leire Saiz Sierra, Maite Serrando Querol","doi":"10.1515/almed-2025-0184","DOIUrl":"10.1515/almed-2025-0184","url":null,"abstract":"<p><strong>Objectives: </strong>To report a rare case of acute myeloid leukemia (AML) with abnormal chromatin clumping (ACC) in myeloblasts mimicking chronic lymphocytic leukemia (CLL), highlighting the associated diagnostic challenges.</p><p><strong>Case presentation: </strong>An 82-year-old woman presented with fatigue, weight loss, and pancytopenia. Peripheral blood film revealed 90 % small mononuclear cells with clumped chromatin and basket cells reminiscent of CLL. Flow cytometry of peripheral blood demonstrated a dim CD45-positive blast population negative for B-cell markers (CD19, CD20, CD10) and lacking light-chain restriction. Bone marrow aspiration confirmed hypercellularity with 94 % blasts expressing CD34, CD117, CD123, MPO, and aberrant CD7. Cytogenetic analysis revealed a complex karyotype with 46,XX, 1p36 abnormalities, and next-generation sequencing identified mutations in <i>EZH2, PHF6, WT1,</i> and <i>STAG2</i>. The final diagnosis was AML with myelodysplasia-related mutations (adverse risk, ELN-2022). Despite cytoreductive therapy, the patient showed no response and died within three weeks.</p><p><strong>Conclusions: </strong>This case highlights the diagnostic challenge posed by AML with ACC, a morphology that can closely resemble CLL. Recognition of this pattern is essential to avoid misclassification, as therapeutic strategies and prognosis differ significantly. Only three similar cases have been reported, underscoring the exceptional rarity and clinical importance of this presentation.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"7 3","pages":"229-233"},"PeriodicalIF":1.1,"publicationDate":"2026-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13552804/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148914433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}