journal: Advances in Laboratory Medicine / Avances en Medicina de Laboratorio

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Advances in Laboratory Medicine / Avances en Medicina de Laboratorio

Official Journal of the Spanish Society of Laboratory Medicine SEQC-ML

ISSN: 2628-491X

Editor-in-chief: Álvaro González Hernández

Edited by: Pilar Fernandez Calle, Ignacio Arribas Gómez, Wladimiro Jiménez Povedano

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About this journal

Objective: Advances in Laboratory Medicine / Avances en Medicina de Laboratorio (Adv Lab Med) is the official journal of the Spanish Society of Laboratory Medicine (SEQC^ML). Adv Lab Med publishes contributions in the field of medical sciences, including Biochemistry, Hematology, Toxicology, Microbiology and Parasitology, Immunology, and Genetics. Articles focusing on the choice, performance or interpretation of clinical tests are especially welcome.
Adv Lab Med publishes quarterly. All contributions submitted for publication in Adv Lab Med are single-blind peer reviewed by at least two experts in the field, selected and invited by the Editor-in-Chief. Adv Lab Med is an Open Access journal with an international board of renowned editors. Authors are not charged for manuscript processing and Open Access publication. SEQC^ML covers processing and publication charges. The Society plays no role in the selection and publication of the articles, nor does it influence peer review. Adv Lab Med is a bilingual journal, and all articles are published in both English and Spanish.

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Submissions in the following fields are welcome:

Clinical Chemistry
Clinical Hematology and Coagulation
Genetic and Molecular Biology
Clinical Immunology and Autoimmunity
Clinical Microbiology and Parasitology
Drug Monitoring and Toxicology
Evaluation of Diagnostic Biomarkers
New Technologies and Methodologies
Reference Materials and Methods
Reference Values and Decision Limits
Quality Control
Translational Laboratory Medicine
Endocrinology and Metabolism
Lipids and Lipoproteins
Cardiovascular Risk Factors
Cancer Biomarkers
Clinical Metrology
Laboratory Management
POCT

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Research Articles: full length articles and short communications
Reviews and Mini Reviews
Opinion Papers
Editorials
Letters to the Editor and Replies
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Latest developments in the clinical laboratory sciences
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Novel teaching and training methods
High quality peer-review
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Publication under the Creative Commons Attribution (CC-BY-4.0) License
Free translation of each article into Spanish or English

History

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio was founded by the Spanish Society of Laboratory Medicine (SEQC^ML), and launched at EuroMedLab 2019 in Barcelona.

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Volume 4 Issue 3

September 2023

Publicly Available October 5, 2023

Frontmatter

Page range: i-ii

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Editorial

Open Access September 13, 2023

A new era for Advances in Laboratory Medicine

Álvaro González, Roser Ferrer-Costa, Pilar Fernández-Calle, Ignacio Arribas, Wladimiro Jiménez

Page range: 203-204

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Open Access September 8, 2023

Una nueva etapa para Advances in Laboratory Medicine/Avances en Medicina de Laboratorio

Álvaro González, Roser Ferrer-Costa, Pilar Fernández-Calle, Ignacio Arribas, Wladimiro Jiménez

Page range: 205-206

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Opinion Paper/ Artículo de Opinión

Open Access August 3, 2023

A new approach to prostate cancer screening

Xavier Filella, Álvaro González, Josep Maria Augé, Antonio Barco, Rosa Carbonell, María Jesús Gaspar, Antonio Martínez-Peinado, Clara Pérez Barrios, Marta Sánchez-Carbayo, José Diego Santotoribio, Jaume Trapé, on behalf of the Comisión de Marcadores Biológicos de Cáncer, SEQCML

Page range: 207-211

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Abstract

Prostate cancer screening based on prostate-specific antigen (PSA) testing has been a matter of controversy. Although screening for prostate cancer was effective in reducing mortality, it resulted in overdiagnosis, which translated into unnecessary treatments and numerous adverse effects. As a result, recommendations from scientific societies became increasingly restrictive. In the recent years, new approaches to prostate cancer screening have been proposed. These new approaches are aimed at solving the controversy between widespread screening vs. no screening, and reconsidering PSA testing as a screening tool with a good benefit/risk balance. In this context, the European Association of Urology submitted a proposal to the European Commission for prostate cancer screening to be performed as a function of baseline PSA concentrations. The European Commission recently recommended the implementation of organized prostate cancer screening programs for men aged ≤70 years based on PSA values in combination with follow-up magnetic resonance imaging.

Open Access July 21, 2023

Una nueva perspectiva en el cribado del cáncer de próstata

Page range: 212-217

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Abstract

Resumen El cribado del cáncer de próstata mediante la medida del antígeno específico de la próstata (PSA) ha sido objeto de una intensa polémica. Los beneficios derivados en cuanto a reducción en mortalidad del cribado organizado del cáncer de próstata se han acompañado de un importante sobrediagnóstico, que se ha traducido en tratamientos innecesarios y numerosos efectos adversos. Por ello, las recomendaciones de las sociedades científicas han sido cada vez más restrictivas. En los últimos años se han hecho diversas propuestas para reconsiderar el enfoque sobre el cribado del cáncer de próstata, con objeto de superar la oposición entre cribar a todo el mundo o no cribar a nadie y a reconsiderar el PSA como una herramienta que permita un balance favorable entre beneficios y riesgos. En este contexto, hay que destacar la propuesta que la European Association of Urology dirigía a la Comisión Europea replanteando el cribado del cáncer de próstata en función de la medida de un PSA basal. Recientemente, la Comisión Europea ha recomendado la implementación de programas organizados para el cribado del cáncer de próstata para hombres de hasta 70 años basado en medidas de PSA en combinación con la resonancia magnética como prueba de seguimiento.

Original Article / Artículo Original

Open Access July 12, 2023

Liver FoxO1 overexpression is positively associated with the degree of liver injury in cirrhotic patients

Esther Fernández-Galán, Silvia Sandalinas, Laura Macias-Muñoz, Irene Portolés, Jordi Ribera, Blai Morales-Romero, Montse Pauta, Gregori Casals, Loreto Boix, Wladimiro Jiménez, Manuel Morales-Ruiz

Page range: 218-226

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Abstract

Objectives Chronic liver disease and related complications, cirrhosis and hepatocellular carcinoma, are associated with high mortality. Curative treatments, partial hepatectomy or liver transplantation, have limited applicability in patients with cirrhosis due to the poor liver regenerative capacity. Thus, we need to find new diagnostic and therapeutic alternatives, to block the disease progression and to improve the survival of patients. In this context, preclinical studies have demonstrated the key role of the protein kinase B (Akt) in liver dysfunction, but the status of Akt and its targets in patients with chronic hepatopathy remains unknown. Aims: To determine the activation status of the Akt pathway and their association with liver functionality in cirrhotic patients. Methods This retrospective study includes liver tissue samples from 36 hepatectomized patients with (n=27) and without (n=9) cirrhosis. Multiplex analysis of proteins involved in the Akt/mTOR pathway was performed using a Luminex panel and Western blot. Conventional liver function tests were determined in serum before resection surgery. Results Akt and forkhead box protein O1 (FoxO1) are overexpressed in the liver of cirrhotic patients: (2.1 vs. 1.0 densitometric relative units (DRU); p<0.01, and 9.5 vs . 4.4 DRU; p<0.01, respectively). FoxO1 showed the best correlation with markers of liver injury (aspartate aminotransferase (ASAT): r=0.51, p<0.05; alanine aminotransferase (ALAT): r=0.49, p<0.05), and was the only enzyme in the Akt pathway identified as an independent predictor of ASAT and ALAT levels. Conclusions The intrahepatic expression of FoxO1 could have clinical utility as a potential prognostic marker for patients with advanced liver disease.

Open Access August 4, 2023

La sobreexpresión de FoxO1 en el hígado esta positivamente asociada al grado de daño hepático en pacientes cirróticos

Page range: 227-235

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Abstract

Resumen Objetivos La enfermedad hepática crónica y sus complicaciones, la cirrosis y el carcinoma hepatocelular, presentan una elevada mortalidad. Los tratamientos curativos, como la hepatectomía parcial o el trasplante hepático, tienen una aplicación limitada en pacientes con cirrosis, por su escasa capacidad de regeneración hepática. Son necesarias otras alternativas diagnósticas y terapéuticas para prevenir la progresión de la enfermedad y mejorar la supervivencia. Diversos estudios preclínicos demuestran el importante papel de la proteína quinasa B(Akt) en la disfunción hepática, aunque aún se desconoce el estado de Akt y sus dianas en las patologías hepáticas crónicas. El principal objetivo es determinar el estado de activación de la vía Akt y su relación con la función hepática en pacientes cirróticos. Métodos Estudio retrospectivo con muestras de tejido hepático de 36 pacientes hepatectomizados con (n=27) y sin (n=9) cirrosis. Se realizó un análisis Multiplex de las proteínas de la vía Akt/mTOR empleando un panel Luminex y Western blot . Previamente a la resección, se realizaron las pruebas habituales de función hepática en suero. Resultados Akt y la proteína FoxO1 están sobreexpresadas en el hígado cirrótico: 1.0 unidades densitométricas relativas (UDR); p<0,01, y 9,5 vs . 4,4 DRU; p<0,01, respectivamente). FoxO1 mostró una fuerte correlación con los marcadores de daño hepático (aspartato aminotransferasa (ASAT): r=0,51, p<0,05; alanina aminotransferasa (ALAT): r=0,49, p<0,05), y fue la única enzima de la vía Akt identificada como predictor independiente de los niveles de ASAT y ALAT. Conclusiones La expresión intrahepática de FoxO1 podría tener utilidad clínica como marcador pronóstico en la enfermedad hepática avanzada.

Open Access July 4, 2023

Comparison of Sigma metrics computed by three bias estimation approaches for 33 chemistry and 26 immunoassay analytes

Şerif Ercan

Page range: 236-245

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Abstract

Objectives Sigma metric can be calculated using a simple equation. However, there are multiple sources for the elements in the equation that may produce different Sigma values. This study aimed to investigate the importance of different bias estimation approaches for Sigma metric calculation. Methods Sigma metrics were computed for 33 chemistry and 26 immunoassay analytes on the Roche Cobas 6000 analyzer. Bias was estimated by three approaches: (1) averaging the monthly bias values obtained from the external quality assurance (EQA) studies; (2) calculating the bias values from the regression equation derived from the EQA data; and (3) averaging the monthly bias values from the internal quality control (IQC) events. Sigma metrics were separately calculated for the two levels of the IQC samples using three bias estimation approaches. The resulting Sigma values were classified into five categories considering Westgard Sigma Rules as ≥6, <6 and ≥5, <5 and ≥4, <4 and ≥3, and <3. Results When classifying Sigma metrics estimated by three bias estimation approaches for each assay, 16 chemistry assays at the IQC level 1 and 2 were observed to fall into different Sigma categories under at least one bias estimation approach. Similarly, for 12 immunoassays at the IQC level 1 and 2, Sigma category was different depending on bias estimation approach. Conclusions Sigma metrics may differ depending on bias estimation approaches. This should be considered when using Six Sigma for assessing analytical performance or scheduling the IQC events.

Open Access August 28, 2023

Comparación de la métrica Sigma calculada con tres métodos de estimación del sesgo en 33 magnitudes químicas y 26 de inmunoensayo

Şerif Ercan

Page range: 246-257

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Abstract

Resumen Objetivos Aunque la métrica Sigma se puede calcular mediante una sencilla ecuación, la diversidad de fuentes de las que se extraen los elementos de la ecuación pueden arrojar diferentes valores Sigma. El objetivo de este estudio era investigar la importancia de las distintas estrategias de estimación del sesgo para el cálculo de la métrica Sigma. Métodos Se calculó la métrica Sigma de 33 magnitudes químicas y 26 magnitudes de inmunoensayo en un analizador Roche Cobas 6,000. El sesgo se calculó mediante tres métodos: a) calculando la media del sesgo mensual obtenida en los estudios de control de calidad externo (EQA, por sus siglas en inglés); 2) calculando los valores de sesgo mediante una ecuación de regresión a partir de datos obtenidos del EQA; y 3) calculando la media de los valores de sesgo mensual de los eventos de control de calidad internos (IQC, por sus siglas en inglés). Se realizó una métrica Sigma para cada uno de los dos niveles de muestras de IQC empleando tres métodos para calcular el sesgo. Los valores Sigma obtenidos se clasificaron en cinco categorías, en función de las reglas Sigma de Westgard, siendo ≥6, <6 y ≥5, <5 y ≥4, <4 y ≥3, y <3. Resultados Al clasificar la métrica Sigma, calculada aplicando tres métodos de estimación del sesgo para cada magnitud, se observó que 16 magnitudes químicas en los niveles 1 y 2 de IQC fueron clasificadas en categorías Sigma diferentes por al menos uno de los métodos de estimación de la desviación. Del mismo modo, dependiendo del método de estimación del sesgo empleado, se clasificaba en diferentes categorías a 12 magnitudes de inmunoensayo con niveles 1 y 2 de IQC. Conclusiones La métrica Sigma puede variar dependiendo del método empleado para calcular el sesgo, lo cual debe ser tenido en cuenta a la hora de evaluar el rendimiento analítico o programar eventos de IQC aplicando el método Seis Sigma.

Open Access August 25, 2023

Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population

Laura Martínez Figueras, Rafael Muñoz Pacheco, Dolores García González, María Arriba Domènech, Begoña Ezquieta Zubicaray

Page range: 258-267

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Abstract

Objectives The chimeras causing the CAH-X syndrome (SCAH-X) result from recombination between CYP21A2 - TNXB and their respective pseudogenes ( CYP21A1P - TNXA ). The clinical manifestations of this syndrome include congenital adrenal hyperplasia (CAH) and Ehlers–Danlos syndrome (EDS). Since SCAH-X has been recently described, the number of publications available is limited. The objective of this study was to set up a molecular approach and a screening algorithm for detecting CAH-X chimeras, determine their frequency and distribution in the Spanish population, and assess their clinical pattern of occurrence in a group of patients. Methods A total of 186 patients were eligible for CAH-X molecular genetic testing. Testing included MLPA, heterodimer detection by capillary gel electrophoresis, and sequencing of exons 40, 41, and 43 of TNXB . A review was performed of the medical history of 20 patients from three hospitals of reference and the signs and symptoms of EDS they exhibited. Results In total, 78 CAH patients were carriers of CAH-X chimeras (41.9 %). Forty-six patients were carriers of CH1 (24.7 %), 24 of CH2 (12.9 %), and 8 of CH3 (4.3 %), with a heterogeneous geographical distribution. Seven (35 %) of the 20 carriers of a CAH-X chimera who underwent clinical examination experienced clinical manifestations of EDS. Conclusions The impact of SCAH-X in the Spanish population was assessed by genetic testing. In the light of the clinical pattern of occurrence and significant prevalence of SCAH-X in the Spanish population, early diagnosis of this entity is essential for an appropriate follow-up of clinical manifestations.

Open Access July 4, 2023

Caracterización molecular de la nueva entidad clínica relacionada con la hiperplasia suprarrenal congénita, síndrome CAH-X en población española

Laura Martínez Figueras, Rafael Muñoz Pacheco, Dolores García González, María Arriba Domènech, Begoña Ezquieta Zubicaray

Page range: 268-278

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Abstract

Resumen Objetivos La recombinación entre CYP21A2 - TNXB y sus respectivos pseudogenes ( CYP21A1P - TNXA ) da lugar a quimeras responsables del síndrome CAH-X (SCAH-X). Los pacientes con este síndrome presentan manifestaciones clínicas de hiperplasia suprarrenal congénita (HSC) y síndrome de Ehlers-Danlos (SED). La descripción del SCAH-X es reciente y es limitado el número de estudios disponibles. El objetivo de este trabajo es poner a punto un abordaje para la detección de todos los tipos de quimeras CAH-X, determinar su frecuencia y la distribución en población española así como valorar la expresividad clínica en un grupo de pacientes. Métodos se seleccionaron 186 pacientes candidatos al estudio molecular CAH-X. Dicho abordaje molecular incluyó la técnica MLPA, detección de heterodímeros por electroforesis en gel capilar y secuenciación de exones 40, 41 y 43 de TNXB . La revisión de historias clínicas y la evaluación de signos y síntomas SED se ha llevado a cabo en 20 pacientes de tres Hospitales de referencia. Resultados Setentaiocho pacientes HSC presentaron quimeras CAH-X (41,9 %). Se detectaron 46 quimeras CH1 (24,7 %), 24 CH2 (12,9 %) y 8 CH3 (4,3 %), con una distribución geográfica no homogénea. Siete de los 20 portadores de quimera CAH-X valorados clínicamente (35 %) presentaron manifestaciones clínicas asociadas a SED. Conclusiones La implementación del abordaje molecular descrito en este trabajo ha permitido determinar el impacto del SCAH-X en población española. La expresividad clínica detectada y la considerable prevalencia del SCAH-X hacen recomendable el diagnóstico temprano de esta entidad para realizar un adecuado seguimiento de las manifestaciones clínicas que lo caracterizan.

Open Access September 22, 2023

Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia

Laura Rosado-Jiménez, Younes Mestre-Terkemani, Ángeles García-Aliaga, Miguel Marín-Vera, José Antonio Macías-Cerrolaza, María Desamparados Sarabia-Meseguer, María Rosario García-Hernández, Marta Zafra-Poves, Pilar Sánchez-Henarejos, Francisco Ayala de la Peña, José Luis Alonso-Romero, José Antonio Noguera-Velasco, Francisco Ruiz-Espejo

Page range: 279-287

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Abstract

Objectives Hereditary breast and ovarian cancer (HBOC) follows an autosomal dominant inheritance pattern of cancer susceptibility genes. The risk of developing this disease is primarily associated with germline mutations in the BRCA1 and BRCA2 genes. The advent of massive genetic sequencing technologies has expanded the mutational spectrum of this hereditary syndrome, thereby increasing the number of variants of uncertain clinical significance (VUS) detected by genetic testing. Methods A prevalence study of HBOC was performed within 2,928 families from the Region of Murcia, in southeastern Spain. Genetic testing enabled the identification of recurrent pathogenic variants and founder mutations, which were mainly related to the BRCA1 and BRCA2 genes. VUS testing was performed using a prioritization algorithm designed by our working group. Results Variants c.68_69del, c.212+1G>A, and c.5123C>A were detected in 30 % of BRCA1 carriers, whereas exon 2 deletion concurrent with c.3264dupT, c.3455T>G and c.9117G>A variants were found in 30 % of BRCA2 carriers. A total of 16 VUS (15 %) were prioritized. Conclusions The genotype-phenotype correlation observed in our study is consistent with the scientific literature. Furthermore, the founder effect of c.1918C>T ( BRCA1 ) and c.8251_8254del ( ATM ) was verified in the Murcian population, whereas exon 2 deletion ( BRCA2 ) was proven to be a Spanish founder mutation. Our algorithm enabled us to prioritize potentially pathogenic VUS that required further testing to determine their clinical significance and potential role in HBOC.

Open Access July 10, 2023

Variantes genéticas recurrentes y priorización de variantes de significado clínico desconocido asociadas al síndrome de cáncer de mama y ovario hereditario en familias de la Región de Murcia

Page range: 288-297

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Abstract

Resumen Objetivos El síndrome de cáncer de mama y ovario hereditario (SCMOH) presenta un patrón de herencia autosómica dominante en genes de susceptibilidad al cáncer y su riesgo está principalmente vinculado a mutaciones germinales en BRCA1 y BRCA2 . Sin embargo, la implementación de paneles genéticos mediante secuenciación masiva en la práctica asistencial, ha ampliado el espectro mutacional de este síndrome hereditario y el número de variantes de significado clínico desconocido (VUS) detectadas en los estudios genéticos. Métodos El estudio de prevalencia del SCMOH realizado en 2928 familias de la Región de Murcia ha permitido identificar las variantes patogénicas recurrentes y mutaciones fundadoras, principalmente asociadas a genes BRCA1 y BRCA2 . En el estudio de VUS destaca la aplicación de un algoritmo de priorización diseñado por nuestro grupo de trabajo. Resultados Las variantes c.68_69del, c.212+1G>A, y c.5123C>A fueron detectadas en un 30 % de los portadores de BRCA1 mientras que la deleción del exón 2 junto con c.3264dupT, c.3455T>G y c.9117G>A se han encontrado en un 30 % de los portadores de BRCA2 . Un total de 16 VUS (15 %) fueron priorizadas. Conclusiones La correlación genotipo-fenotipo resultó compatible con lo reportado previamente en la literatura científica. Además, se ha constatado el efecto fundador de c.1918C>T ( BRCA1 ) y c.8251_8254del ( ATM ) en población murciana y la deleción del exon2 ( BRCA2 ) como mutación fundadora española. La implementación del algoritmo ha permitido priorizar aquellas VUS susceptibles de patogenicidad en las que sería recomendable realizar estudios complementarios para así, poder determinar su efecto clínico y su posible implicación en el SCMOH.

Open Access August 29, 2023

Longitudinal study of antibody response following SARS-CoV-2 vaccination with Pfizer-BioNTech BNT162b2

Leandra J. Robles Navas, Juan J. Ortega Huete, María L. Juliá Sanchis, Jorge S. Bravo Miró, Serezade Cervera Sánchez, Ricardo Molina Gasset

Page range: 298-302

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Abstract

Objectives To assess the immunity of healthcare and non-healthcare workers in the Alcoy health area (Spain) after completing three doses of the Pfizer-BioNTech vaccine and how it relates with individual factors. Methods We conducted a prospective, observational, longitudinal, analytical study to observe immunogenicity in healthcare and non-healthcare workers at Virgen de los Lirios Hospital following administration of three doses of the Pfizer-BioNTech vaccine. Anti-SARS-CoV-2 spike protein IgG antibody concentrations were determined, while COVID-19 infections were identified by qualitative detection of IgG against the nucleocapsid protein. Samples from volunteers were analyzed 15 days, 3 months, and 6 months after receiving the second vaccine dose, and 12 months after receiving the third (booster) dose. A questionnaire was used to collect demographic data, risk factors, and use of immunosuppressive drugs. Statistical analyses were performed with SPSS software, and mean antibody levels over time were compared using ANOVA. Results Participation was 99.5 % (199/200). The IgG concentration was higher in men and in obese individuals. No significant changes were noted in factors such as smoking. Conclusions All participants developed humoral immunity, except for three subjects who were receiving immunosuppressive treatment. Participants with previous COVID-19 infection had higher antibody levels.

Open Access September 25, 2023

Estudio longitudinal de la respuesta de anticuerpos tras la vacunación contra el SARS-CoV-2 con la vacuna BNT162b2 de Pfizer-BioNtech

Leandra J. Robles Navas, Juan J. Ortega Huete, María L. Juliá Sanchis, Jorge S. Bravo Miró, Serezade Cervera Sánchez, Ricardo Molina Gasset

Page range: 303-307

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Abstract

Resumen Objetivos Se realizó un estudio para evaluar la inmunidad de trabajadores sanitarios y no sanitarios del área de salud de Alcoy (España), tras haber recibido tres dosis de la vacuna de Pfizer-BioNTech y analizar su relación con factores individuales. Métodos Se llevó a cabo un estudio prospectivo, observacional, longitudinal, analítico, destinado a observar la inmunogenicidad en profesionales sanitarios y no sanitarios del Hospital Virgen de los Lirios, posterior a la administración de tres dosis de la vacuna de Pfizer-BioNTech. Se determinó la concentración de anticuerpos IgG frente a la proteína spike del SARS-CoV-2. La presencia de COVID-19 se identificó mediante detección cualitativa de anticuerpos IgG contra la proteína de la nucleocápside. Las muestras de los voluntarios se analizaron a los 15 días, 3 meses, y 6 meses de recibir la segunda dosis de la vacuna, y a los 12 meses de la tercera dosis (dosis de refuerzo). Se extrajeron datos demográficos, así como sobre factores de riesgo y el uso de fármacos inmunosupresores. Los análisis estadísticos se realizaron con el programa SPSS. Los niveles medios de anticuerpos a lo largo del tiempo se compararon mediante ANOVA. Resultados La participación fue del 99,5 % (199/200). Las concentraciones de IgG fueron superiores en los hombres y en los sujetos obesos. No se observaron variaciones significativas con respecto a factores como el hábito tabáquico. Conclusiones Todos los participantes desarrollaron inmunidad humoral, excepto tres sujetos, que estaban recibiendo un tratamiento inmunosupresor. Los participantes con infección previa de COVID-19 presentaron mayores niveles de anticuerpos.

Open Access August 14, 2023

The association between hemogram parameters and the development of contrast-induced nephropathy in patients presenting with non-ST-elevation myocardial infarction

Esra Dönmez, Sevgi Özcan, İrfan Şahin, Ertuğrul Okuyan

Page range: 308-313

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Abstract

Objectives Hemogram parameters such as mean platelet volume (MPV), neutrophil/lymphocyte ratio (NLr), red cell distribution width and platelet distribution width are widely used inflammatory indicators to assess prognosis in various cardiovascular diseases. In this study, we aimed to investigate the role of hemogram parameters to predict the development of contrast-induced nephropathy (CIN) in patients presenting with non-ST segment elevation myocardial infarction (non-STEMI) and treated with percutaneous coronary intervention (PCI). Methods All pateints who underwent PCI with a diagnosis of non-STEMI between 2017 and 2020 in our center were included retrospectively in this study. Results A total of 387 patients were included in this retrospective study. Advanced age (p=0.001, β:0.005, OR [95 % CI]: 0.002–0.007), diabetes mellitus (p=0.013, β:0.205, OR [95 % CI]: 0.150–0.260), congestive heart failure (p=0.009, β:0.095, OR [95 % CI]: 0.024–0.166), volume of contrast medium (p=0.008, β:0.241, OR [95 % CI]: 0.184–0.392), MPV (p=0.02, β:0.047, OR [95 % CI]: 0.028–0.065) and NLr (p=0.001, β:0.052, OR [95 % CI]: 0.040–0.063) were found as independent risk factors associated with CIN development according to multivariate logistic regression analysis. A cut off value of 5.5 for NLr was associated with 79.6 % sensitivity and 79.5 % specificity and 9.05 for MPV was associated with 64.1 % sensitivity and 58.7 % specificity in prediction of CIN development. Conclusions Hematological parameters, assessed by routine blood count analysis may serve as a promising and useful marker for CIN especially when used in combination with traditional risk factors. MPV and NLr were demonstrated as predictors of CIN development in non-STEMI patients who were treated with PCI in our study.

Open Access September 21, 2023

Asociación entre parámetros hemáticos y el desarrollo de nefropatía inducida por contraste en pacientes con infarto de miocardio sin elevación del segmento ST

Esra Dönmez, Sevgi Özcan, İrfan Şahin, Ertuğrul Okuyan

Page range: 314-320

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Abstract

Resumen Objetivos Los parámetros hemáticos, como el volumen plaquetario medio (VPM), el índice neutrofilo/linfocito (INL), la amplitud de distribución eritrocitaria (ADE), y la amplitud de distribución plaquetaria (ADP), son indicadores ampliamente utilizados en el pronóstico de diversas patologías cardiovasculares. Investigamos el valor predictivo de los parámetros hemáticos en el desarrollo de nefropatía inducida por contraste (NIC), en pacientes con infarto de miocardio sin elevación del segmento ST (IAMSEST), sometidos a intervención coronaria percutánea (ICP). Métodos Se incluyó retrospectivamente a todos los pacientes diagnosticados de IAMSEST que se sometieron a una ICP percutánea entre 2017 y 2020 en un hospital terciario. Resultados Se incluyó a un total de 387 pacientes. El análisis de regresión logística mostró que la edad avanzada (p=0,001, β:0,005, OR [IC95 %]: 0,002–0,007), la presencia de diabetes mellitus (p=0,013, β:0,205, OR [IC95 %]: 0,150–0,260), insuficiencia cardíaca congestiva (p=0,009, β:0,095, OR [IC95 %]: 0,024–0,166), así como el volumen plaquetario medio (p=0,008, β:0,241, OR [IC95 %]: 0,184–0,392), VPM (p=0,02, β:0,047, OR [IC95 %]: 0,028–0,065), e INL (p=0,001, β:0,052, OR [IC95 %]: 0,040–0,063) fueron factores de riesgo independientes de desarrollar NIC. Un valor umbral de 5,5 para INL mostró una sensibilidad del 79,6 % y una especifidad del 79,5 %, mientras que el valor umbral de 9,05 para el VPM mostró una sensibilidad del 64,1 % y una especifidad del 58,7 % a la hora de predecir el desarrollo de NIC. Conclusiones los parámetros hematológicos, medidos mediante hemograma rutinario, se postulan como marcadores útiles y prometedores de NIC, cuando se emplean en combinación con otros factores de riesgo habituales. El VPM y el INL predicen el desarrollo de NIC en pacientes con IAMSEST sometidos a ICP.

Case Report / Caso Clínico

Open Access July 4, 2023

Incidental finding of rare hemoglobin: hemoglobin Bari in northeast Spain

Raquel Lahoz Alonso, Naiara Romero Sánchez, Ruth González Sánchez, Antonia Escobar Medina, Aurora M. López Martos, Marta Domínguez García, David Beneitez Pastor, Montserrat Prieto Grueso, Adoración Blanco Álvarez, Susana Urban Giralt, Patricia Esteve Alcalde

Page range: 321-325

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Abstract

Objectives Cation exchange high-performance liquid chromatography (HPLC) is one of the techniques available for determining glycated hemoglobin (HbA 1c ) and also the method of choice for structural hemoglobinopathies screening. The objective of this case is to show how in a routine HbA 1c test it is possible to incidentally find a hemoglobinopathy. Case presentation In a routine blood analysis, an abnormal value for the hemoglobin A2 (HbA 2 ) was obtained during the study of HbA 1c with HPLC on the ADAMS™ A1c HA-8180T. After suspecting it could be due to the presence of a hemoglobinopathy, the study of possible variants was expanded using electrophoresis and HPLC on the Hydrasys and Variant II analysers, respectively. Since it could not be identified by these conventional methods, a genetic study was also carried out using Sanger sequencing. The patient presented a low HbA 2 (1.3 %) and a 24.9 % variant with a retention time of 1.95 min, compatible with alpha-globin chain variant. In the genetic study, the pathogenic variant c.138C>G was detected in the HbA 2 gene in heterozygosis, which resulted in the expression of the structural hemoglobinopathy known as hemoglobin Bari. Conclusions The initial screening for structural hemoglobinopathies allows its identification or suspicion especially when it was performed with HbA 1c analysis, requiring subsequent confirmation and diagnosis by other techniques.

Open Access July 25, 2023

Hallazgo incidental de una hemoglobina rara: hemoglobina Bari en el noreste de España

Page range: 326-331

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Abstract

Resumen Objetivos La cromatografía líquida de alta resolución (HPLC) es una de las técnicas empleadas para determinar la hemoglobina glicosilada (HbA 1c ) y el método de elección para el cribado de hemoglobinopatías estructurales. El objetivo de este caso es mostrar cómo en un análisis de rutina de HbA 1c es posible encontrar incidentalmente una hemoglobinopatía. Caso clínico En un análisis clínico rutinario, se observó un valor anormal de hemoglobina A 2 (HbA 2 ) en el análisis de HbA 1c mediante HPLC, realizado con el analizador ADAMS™ A1c HA-8180T. Ante la sospecha de la presencia de una hemoglobinopatía, se amplió el estudio a posibles variantes mediante electroforesis y HPLC, empleando los analizadores Hydrasys y Variant II, respectivamente. Dado que no se pudo identificar con ninguno de los métodos tradicionales, se realizó también un estudio genético mediante secuenciación Sanger. El paciente presentaba niveles bajos de HbA 2 (1.3%) y una variante del 24,9% con un tiempo de retención de 1.95 minutos, compatible con una variante de la cadena de alfa-globina. En el estudio genético, se detectó la variante patogénica c.138C>G en el gen HBA2 en heterocigosis, causando la expresión de la hemoglobinopatía conocida como hemoglobina Bari. Conclusiones El cribado inicial de hemoglobinopatías estructurales permite su identificación o suscita sospecha de su presencia, especialmente cuando se realiza junto al análisis de HbA 1c , requiriendo posterior confirmación y diagnóstico con otras técnicas.

Letter to the Editor / Carta al Editor

Open Access August 14, 2023

Serum levels of prostate specific antigen (PSA) after primary vaccination with BNT162b2

Simone De Nitto, Laura Pighi, Gian Luca Salvagno, Giuseppe Lippi

Page range: 332-333

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Open Access September 15, 2023

Niveles séricos de antígeno prostático específico (PSA) tras vacunación primaria con BNT162b2

Simone De Nitto, Laura Pighi, Gian Luca Salvagno, Giuseppe Lippi

Page range: 334-335

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Ahead of Print / Just Accepted

Ahead of Print / Just Accepted

Volume 4 (2023)

Volume 3 (2022)

Volume 2 (2021)

Volume 1 (2020)

Journal Impact Factor	1.0	2022, Journal Citation Reports (Clarivate, 2023)
5-year Journal Impact Factor	1.0	2022, Journal Citation Reports (Clarivate, 2023)
Journal Citation Indicator	0.19	2022, Journal Citation Reports (Clarivate, 2023)
CiteScore	0.7	2022, Scopus (Elsevier B.V., 2023)
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Editorial

Editor-in-Chief
Álvaro González Hernández, Clínica Universidad de Navarra, Pamplona, Spain
agonzaleh@unav.es

Associate Editors
Ignacio Arribas Gómez, Hospital Universitario Ramón y Cajal, Madrid, Spain
arribasignacio@gmail.com

Ángel Díaz Lagares, Complejo Hospitalario Universitario de Santiago de Compostela (CHUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS) CIBERONC, Santiago de Compostela, Spain
Angel.Diaz.Lagares@sergas.es

Pilar Fernández Calle, Hospital La Paz, Madrid, Spain
pfernandez.hulp@gmail.com

Anna Merino González, Hospital Clínic, Barcelona, Spain
amerino@clinic.es

Wladimiro Jiménez Povedano, Universitat de Barcelona, Barcelona, Spain
wjimenez@clinic.cat

Advisory Board
Mª Belén Aparicio Hernández, Hospital Universitario de Salamanca, Salamanca, Spain
salaautoinmunidad@yahoo.es

Hugo Azevedo Rocha, Instituto Nacional de Saude Ricardo Jorge, Porto, Portugal
hugodanielrocha@netcabo.pt

Antonio Buño Soto, Hospital La Paz, Madrid, Spain
antoniobuno@gmail.com

María José Calasanz Abinzano, Universidad de Navarra, Pamblona, Spain
mjcal@unav.es

Francesca Canalias Reverter, Universitat Autònoma de Barcelona, Barcelona, Spain
francesca.canalias@uab.cat

Edgardo Carosella, Hemato-Immunology Research Department, CEA, Hospital Saint Louis, Paris, France
edgardo.carosella@cea.fr

Patrocinio Chueca Rodríguez, SEQC-ML, Comite de Comunicacion, Navarra, Spain
patrochueca@gmail.com

Abdurrahman Coskun, Ali Aydinlar University, Istanbul, Turkey
coskun2002@gmail.com

Ana Belén Crujeiras, Complejo Hospitalario Universitario de Santiago de Compostela (CHUS), Santiago de Compostela, Spain
anabelencrujeiras@hotmail.com

Amitava Dasgupta, University of Texas McGovern Medical School at Houston and Laboratory Services, Memorial-Hermann Hospital at Texas Medical Center, Houston, TX, USA
Amitava.Dasgupta@uth.tmc.edu

Miguel Fernández de Sanmamed Gutiérrez, Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA
msanmamed@unav.es

Maurizio Ferrari, Vita-Salute San Raffaele University, Milan, Italy
ferrari.maurizio@hsr.it

Xavier Filella Pla, Hospital Clínic, Barcelona, Spain
xfilella@clinic.cat

Callum G. Fraser, University of Dundee, Dundee Scotland, UK
callum.fraser@nhs.net

Rubén Gómez Rioja, Hospital La Paz, Madrid, Spain
rgrioja@salud.madrid.org

Montserrat González Estecha, Hospital Clínico San Carlos, Madrid, Spain
MONTSE@CMPX.NET

Damien Gruson, Cliniques universitaires Saint-Luc, Brussels, Belgium
damien.gruson@uclouvain.be

Eva Guillén Campuzano, President of the Scientific Committee of SEQC^ML, Barcelona, Spain
eguillen@catlab.cat

Joao Tiago Guimaraes, University of Porto, Porto, Portugal
jtguimar@med.up.pt

Anatoli Horuzsko, Georgia Cancer Center at Augusta University, Augusta, GA, USA
ahoruzsko@augusta.edu

Mercè Ibarz Escuer, Hospital U. Arnau de Vilanova, Lleida, Spain
mibarz.lleida.ics@gencat.cat

Eric S. Kilpatrick, Sidra Medical and Research Center, Doha, Qatar
kilpatricks@cshs.org

Giuseppe Lippi, University Hospital of Verona, Verona, Italy
giuseppe.lippi@univr.it

Eva Martínez Cáceres, Hospital Germans Trias i Pujol Badalona, Barcelona, Spain
emmartinez.germanstrias@gencat.cat

Anna Merino González, Hospital Clínic, Barcelona, Spain
amerino@clinic.ub.es

Manuel Morales Ruiz, Hospital Clínic. Barcelona, Barcelona, Spain
morales@clinic.cat

Miguel Angel Moreno Pelayo, Hospital Universitario Ramón y Cajal, Madrid, Spain
mmorenop@salud.madrid.org

Michael Neumaier, Medical Faculty Mannheim of Heidelberg University, Mannheim, Germany
michael.neumaier@medma.uni-heidelberg.de

Josep Oriola Ambrós, Hospital Clínic, Barcelona, Spain
joriola@clinic.ub.es

Alberto Pérez-Mediavilla, Universisad de Navarra, Pamplona, Spain
lamediav@unav.es

Mario Plebani, University Hospital Padova, Padova, Italy
mario.plebani@unipd.it

Belén Prieto García, Hospital Universitario Central de Asturias, Oviedo, Spain
prietobelen7@gmail.com

Jose Puzo Foncillas, Hospital General San Jorge, Huesca, Spain
JPUZO@UNIZAR.ES

Rodolfo Alberto Rey, University of Buenos Aires, Buenos Aires, Argentina
rodolforey@cedie.org.ar

Carmen Ricós Águila, Quality Commission, SEQC^ML, Barcelona, Spain
cricosaguila@gmail.com

Francisco Rodriguez Frias, Hospital Vall d'Hebron, Barcelona, Spain
frarodriguez@vhebron.net

Sverre Sandberg, Haukeland University Hospital, Bergen, Norway
sverre.sandberg@noklus.no

Ana-Maria Šimundić, Clinical Hospital Sveti Duh Zagreb, Zagreb, Croatia
am.simundic@gmail.com

Christos Tsatsanis, University of Crete Medical School, Heraklion, Greece
tsatsani@uoc.gr

Rafael Venta Obaya, Hospital San Agustín, Asturias, Spain
rafael.venta@sespa.es

Franz Villarroel Espindola, Fundación Arturo López Pérez, Providencia, Chile
franz.villarroel@falp.org

Ian Young, Queen’s University Belfast, Belfast, UK
i.young@qub.ac.uk

Inès Zidi, University of Tunis El Manar, Tunis, Tunisia
ines.zidi@istmt.utm.tn

Managing Editors
Roser Ferrer Costa, Hospital Universitari Vall d'Hebron, Barcelona, Spain
roser.ferrer@vallhebron.cat

Albert Bastias González, Barcelona, Spain
editorial.office@seqc.es

Editorial Office
Heike Jahnke
De Gruyter
Genthiner Str. 13
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(Deutsch)

Type: Journal
Languages: English, Spanish
Publisher: De Gruyter
First published: February 20, 2020
Publication Frequency: 4 Issues per Year
Audience: basic scientists, translational researchers, clinical researchers, industry scientists and professionals in the field of laboratory medicine