Pub Date : 2025-12-08eCollection Date: 2025-12-01DOI: 10.1515/almed-2025-0173
Alba Muñoz Santa, Xavier Gómez-Arbonés, Ricardo Pifarré Teixidó, Mercè García-González, Alba Bellés Bellés
{"title":"Caracterización genómica de los mecanismos de adaptación de <i>Pseudomonas aeruginosa</i> en pacientes con bronquiectasias.","authors":"Alba Muñoz Santa, Xavier Gómez-Arbonés, Ricardo Pifarré Teixidó, Mercè García-González, Alba Bellés Bellés","doi":"10.1515/almed-2025-0173","DOIUrl":"10.1515/almed-2025-0173","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 4","pages":"484-491"},"PeriodicalIF":1.1,"publicationDate":"2025-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12744366/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859514","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":"Aplicaciones y retos de ChatGPT en la medicina de laboratorio.","authors":"Zhili Niu, Xiandong Kuang, Juanjuan Chen, Xin Cai, Pingan Zhang","doi":"10.1515/almed-2025-0158","DOIUrl":"10.1515/almed-2025-0158","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 4","pages":"397-410"},"PeriodicalIF":1.1,"publicationDate":"2025-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12744373/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859496","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}
Pub Date : 2025-12-05eCollection Date: 2025-12-01DOI: 10.1515/almed-2025-0182
Mercè Brunet Serra, María Isidoro-García
{"title":"Pharmacogenetics and laboratory medicine: from individual genes towards integral genetic testing.","authors":"Mercè Brunet Serra, María Isidoro-García","doi":"10.1515/almed-2025-0182","DOIUrl":"10.1515/almed-2025-0182","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 4","pages":"377-380"},"PeriodicalIF":1.1,"publicationDate":"2025-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12744368/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859591","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}
Objectives: To establish diagnosis of vascular Ehlers-Danlos syndrome (VEDS) through genetic testing. This syndrome is characterized by muscle and arterial ruptures and a tendency to easy brusing, thin skin with visible veins and acrogeric facial features that may be caused by pathogenic variants (PVs) in heterozygosis in the COL3A1 gene.
Case presentation: We present the case of a man who suffered a cerebrovascular accident. Following investigations, a de novo probably-pathogenic variant was identified in the COL3A1 gene, which directed initial suspicion from Marfan syndrome to a final diagnosis of VEDS.
Conclusions: The variant detected in the COL3A1 gene may support causality in the clinical context of this patient and contribute to improving therapeutic management in similar cases.
{"title":"A <i>de novo</i> variant of the <i>COL3A1</i> gene: causality of vascular Ehlers-Danlos syndrome.","authors":"Estrella Gutiérrez Romero, Nuria Padilla Apuntate, Silvia Izquierdo Álvarez","doi":"10.1515/almed-2025-0172","DOIUrl":"10.1515/almed-2025-0172","url":null,"abstract":"<p><strong>Objectives: </strong>To establish diagnosis of vascular Ehlers-Danlos syndrome (VEDS) through genetic testing. This syndrome is characterized by muscle and arterial ruptures and a tendency to easy brusing, thin skin with visible veins and acrogeric facial features that may be caused by pathogenic variants (PVs) in heterozygosis in the <i>COL3A1</i> gene.</p><p><strong>Case presentation: </strong>We present the case of a man who suffered a cerebrovascular accident. Following investigations, a <i>de novo</i> probably-pathogenic variant was identified in the <i>COL3A1</i> gene, which directed initial suspicion from Marfan syndrome to a final diagnosis of VEDS.</p><p><strong>Conclusions: </strong>The variant detected in the <i>COL3A1</i> gene may support causality in the clinical context of this patient and contribute to improving therapeutic management in similar cases.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 4","pages":"500-503"},"PeriodicalIF":1.1,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12744369/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859511","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}
Pub Date : 2025-11-14eCollection Date: 2025-12-01DOI: 10.1515/almed-2025-0171
Marta Jimenez-Barragan, Antonio Leon-Justel, Catalina Sanchez-Mora
{"title":"Evaluación del diseño y costo-efectividad de un modelo de pruebas en el lugar de atención para mejorar la capacidad de resolución de las urgencias hospitalarias.","authors":"Marta Jimenez-Barragan, Antonio Leon-Justel, Catalina Sanchez-Mora","doi":"10.1515/almed-2025-0171","DOIUrl":"10.1515/almed-2025-0171","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 4","pages":"467-476"},"PeriodicalIF":1.1,"publicationDate":"2025-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12744379/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859487","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}
Pub Date : 2025-11-13eCollection Date: 2025-12-01DOI: 10.1515/almed-2025-0163
Alba Leis-Sestayo, Álvaro Piedra-Aguilera, Laura Jiménez-Añón, Jennifer Rodríguez-Domínguez, Carme García-Martín, Alicia Martínez-Iribarren, Cristian Morales-Indiano
{"title":"Más allá del volumen corpuscular medio: el papel del volumen de los neutrófilos y de los monocitos en el diagnóstico del déficit de B12 en pacientes con anemia.","authors":"Alba Leis-Sestayo, Álvaro Piedra-Aguilera, Laura Jiménez-Añón, Jennifer Rodríguez-Domínguez, Carme García-Martín, Alicia Martínez-Iribarren, Cristian Morales-Indiano","doi":"10.1515/almed-2025-0163","DOIUrl":"10.1515/almed-2025-0163","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 4","pages":"511-513"},"PeriodicalIF":1.1,"publicationDate":"2025-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12744370/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859505","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}
Pub Date : 2025-11-12eCollection Date: 2025-12-01DOI: 10.1515/almed-2025-0174
Helena Čičak, Željka Šarčević, Ana Sruk, Frane Bukvić, Daria Pašalić, Lora Dukić, Ana-Maria Šimundić
{"title":"Validación del reactivo fCAL turbo Buhlmann para la determinación de calprotectina en suero.","authors":"Helena Čičak, Željka Šarčević, Ana Sruk, Frane Bukvić, Daria Pašalić, Lora Dukić, Ana-Maria Šimundić","doi":"10.1515/almed-2025-0174","DOIUrl":"10.1515/almed-2025-0174","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 4","pages":"434-441"},"PeriodicalIF":1.1,"publicationDate":"2025-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12744376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859584","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}
Pub Date : 2025-11-11eCollection Date: 2025-12-01DOI: 10.1515/almed-2025-0149
Natalia García-Simón, Cristina Martínez-Payo, Francisco A Bernabeu-Andreu, Encarnación Donoso-Navarro
{"title":"Estudio comparativo de cuatro analizadores diferentes para la evaluación prenatal del riesgo de trisomía 21.","authors":"Natalia García-Simón, Cristina Martínez-Payo, Francisco A Bernabeu-Andreu, Encarnación Donoso-Navarro","doi":"10.1515/almed-2025-0149","DOIUrl":"10.1515/almed-2025-0149","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 4","pages":"419-426"},"PeriodicalIF":1.1,"publicationDate":"2025-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12744382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859450","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}
Pub Date : 2025-11-10eCollection Date: 2025-12-01DOI: 10.1515/almed-2025-0164
Ana Isabel Balbuena, Noelia Poveda, Araceli López, María José Ferri
Objectives: The development of urinary lithiasis is a relatively frequent complication in patients with inflammatory bowel disease (IBD). A multiplicity of factors - including medication - may induce the formation of renal stones and cause complications of variable severity.
Case presentation: We report a six-case series of patients with IBD treated with mesalazine who developed renoureteral colic. Spontaneous stone expulsion occurred in three patients, with infrared spectroscopy (IRS) confirming a composition of 100 % mesalazine. In the other three cases, the presence of crystalluria was confirmed in urine sediment during the renal colic. In two of these patients, IRS analysis of dried urine sediment confirmed a mesalazine composition.
Conclusions: The scarce literature available on the association between the use of mesalazine and increased risk of lithiasis fails to provide frequency data. Only a previous case on mesalazine crystalluria had been reported in the literature so far, probably due to the difficulty detecting this complication. This case series emphasizes the role of urine sediment analysis in identifying crystalluria and preventing major complications during the follow-up of patients receiving mesalazine therapy.
{"title":"The role of the clinical laboratory in the study of mesalazine-induced nephrolithiasis and crystalluria.","authors":"Ana Isabel Balbuena, Noelia Poveda, Araceli López, María José Ferri","doi":"10.1515/almed-2025-0164","DOIUrl":"10.1515/almed-2025-0164","url":null,"abstract":"<p><strong>Objectives: </strong>The development of urinary lithiasis is a relatively frequent complication in patients with inflammatory bowel disease (IBD). A multiplicity of factors - including medication - may induce the formation of renal stones and cause complications of variable severity.</p><p><strong>Case presentation: </strong>We report a six-case series of patients with IBD treated with mesalazine who developed renoureteral colic. Spontaneous stone expulsion occurred in three patients, with infrared spectroscopy (IRS) confirming a composition of 100 % mesalazine. In the other three cases, the presence of crystalluria was confirmed in urine sediment during the renal colic. In two of these patients, IRS analysis of dried urine sediment confirmed a mesalazine composition.</p><p><strong>Conclusions: </strong>The scarce literature available on the association between the use of mesalazine and increased risk of lithiasis fails to provide frequency data. Only a previous case on mesalazine crystalluria had been reported in the literature so far, probably due to the difficulty detecting this complication. This case series emphasizes the role of urine sediment analysis in identifying crystalluria and preventing major complications during the follow-up of patients receiving mesalazine therapy.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 4","pages":"492-495"},"PeriodicalIF":1.1,"publicationDate":"2025-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12744377/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859552","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}
Pub Date : 2025-11-04eCollection Date: 2025-12-01DOI: 10.1515/almed-2025-0159
Amaia Sandúa, José L Pérez-Gracia, Estibaliz Alegre, Álvaro González
{"title":"Utilidad del PSA en vesículas extracelulares como biomarcador de seguimiento en el cáncer de próstata.","authors":"Amaia Sandúa, José L Pérez-Gracia, Estibaliz Alegre, Álvaro González","doi":"10.1515/almed-2025-0159","DOIUrl":"10.1515/almed-2025-0159","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 4","pages":"450-457"},"PeriodicalIF":1.1,"publicationDate":"2025-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12744381/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859564","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}
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