Medicina clinica (English ed.)最新文献

{"title":"Aortic dissection","authors":"Sandra Mayordomo , Marta Gómez , Carlos Martín","doi":"10.1016/j.medcle.2024.02.020","DOIUrl":"10.1016/j.medcle.2024.02.020","url":null,"abstract":"","PeriodicalId":74154,"journal":{"name":"Medicina clinica (English ed.)","volume":"163 9","pages":"Pages e90-e91"},"PeriodicalIF":0.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142650835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hereditary haemochromatosis: Prevalence and characterization of the disease in a tertiary hospital in Aragon, Spain","authors":"Claudia Abadía Molina ,&nbsp;Nuria Goñi Ros ,&nbsp;Ricardo González Tarancón ,&nbsp;Luis Rello Varas ,&nbsp;M. del Valle Recasens Flores ,&nbsp;Silvia Izquierdo Álvarez","doi":"10.1016/j.medcle.2024.05.017","DOIUrl":"10.1016/j.medcle.2024.05.017","url":null,"abstract":"<div><h3>Background</h3><div>The main genetic cause of iron overload is haemochromatosis (HC). In recent years, the study of non-HFE genes (<em>HFE2</em>, <em>HJV</em>, <em>HAMP</em>, <em>TRF2</em>, <em>SLC40A1</em>, and <em>BMP6</em>) has become relevant thanks to next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) techniques. Our objectives were to estimate the prevalence of both HFE (C282Y/HY63D variants) and non-HFE variants attending a tertiary hospital in Aragón, to predict the effect of the variants on the protein, and to establish a genotype–phenotype correlation evaluating with the clinical context.</div></div><div><h3>Methods</h3><div>Retrospective descriptive study from 2006 to 2020 of patients attended at genetic consultation in a reference hospital for HC in Aragon. We calculated prevalence of HFE and non-HFE variants. We analysed non-HFE genes (<em>HFE2</em>, <em>HJV</em>, <em>HAMP</em>, <em>TRF2</em>, <em>SLC40A1</em>, and <em>BMP6</em>), used bioinformatics tools, consulted different databases and measured clinical parameters (laboratory and imaging).</div></div><div><h3>Results</h3><div>The prevalence of C282Y homozygous was 5.95% respect the total of cases and 0.025% respect our population. The prevalence of non-HFE HC variants was 1.94% respect the total of cases and 0.008% respect our population. We found 27 variants in non-<em>HFE</em> genes and 4 in <em>HFE</em> gene, of which 6 were classified as variant of uncertain clinical significance (VUS), or likely pathogenic or pathogenic according to the ACMG classification criteria.</div></div><div><h3>Conclusion</h3><div>Our prevalence results are as expected, and similar to those obtained by other studies. Although some of the genetic findings explain the clinical symptoms of some of our patients, we remain have a high number of patients without a clear molecular diagnosis.</div></div>","PeriodicalId":74154,"journal":{"name":"Medicina clinica (English ed.)","volume":"163 9","pages":"Pages 442-448"},"PeriodicalIF":0.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142656085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and subclinical arteriosclerotic disease in octagenarians with hip fracture. A case–control study","authors":"Aina Capdevila-Reniu ,&nbsp;Margarita Navarro-López ,&nbsp;Cristina Sierra-Benito ,&nbsp;Victor Sapena ,&nbsp;Ana Suárez-Lombraña ,&nbsp;Miguel Camafort-Babkowski ,&nbsp;Alfonso López-Soto","doi":"10.1016/j.medcle.2024.05.015","DOIUrl":"10.1016/j.medcle.2024.05.015","url":null,"abstract":"<div><h3>Background and objectives</h3><div>Evaluate clinical and subclinical arteriosclerotic disease in older patients with hip fracture compared with patients without fracture in order to increase knowledge about the relation between both diseases in older individuals.</div></div><div><h3>Patients and methods</h3><div>Age- and sex-matched case–control study of octogenarians with and without recent hip fracture. Vascular risk factors, subclinical vascular diseases (assessed by carotid plaques, carotid intima media thickness and arterial stiffness) as well as cardiovascular diseases were analyzed. Univariate and multivariate logistic models were used to estimate odds ratios (OR) with their 95% confidence intervals (CI) to assess the association of the arteriosclerosis and hip fracture.</div></div><div><h3>Results</h3><div>We analyzed 95 patients per group with a median age of 82 [79–87] years of whom 77.9% were female. Patients in both groups have elevated rates of vascular disease (25%) without differences between them. Patients with hip fracture had higher subclinical arteriosclerotic alterations with higher percentage of carotid plaques (OR 3.25 [1.06–9.97]) compared with the control group.</div></div><div><h3>Conclusions</h3><div>Older patients with hip fracture had significantly higher presence of subclinical alterations but not increase on rate of cardiovascular arteriosclerotic disease compared with those without hip fracture.</div></div>","PeriodicalId":74154,"journal":{"name":"Medicina clinica (English ed.)","volume":"163 9","pages":"Pages 431-435"},"PeriodicalIF":0.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142656083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Immunothrombosis: A key mechanism in the COVID-19 pandemic","authors":"José A. Páramo,&nbsp;María Marcos-Jubilar","doi":"10.1016/j.medcle.2024.10.002","DOIUrl":"10.1016/j.medcle.2024.10.002","url":null,"abstract":"","PeriodicalId":74154,"journal":{"name":"Medicina clinica (English ed.)","volume":"163 10","pages":"Pages 517-521"},"PeriodicalIF":0.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142707277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Has the first treatment of type 2 diabetes mellitus changed?","authors":"Lilliam Flores,&nbsp;Josep Vidal","doi":"10.1016/j.medcle.2024.05.020","DOIUrl":"10.1016/j.medcle.2024.05.020","url":null,"abstract":"","PeriodicalId":74154,"journal":{"name":"Medicina clinica (English ed.)","volume":"163 10","pages":"Pages 509-511"},"PeriodicalIF":0.0,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142707300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Type A aortic dissection following transcatheter aortic valve implantation","authors":"Antonio Padilla-Serrano ,&nbsp;María Lara Ruiz Gómez ,&nbsp;Antonio Cárdenas Cruz","doi":"10.1016/j.medcle.2024.05.019","DOIUrl":"10.1016/j.medcle.2024.05.019","url":null,"abstract":"","PeriodicalId":74154,"journal":{"name":"Medicina clinica (English ed.)","volume":"163 10","pages":"Pages 526-527"},"PeriodicalIF":0.0,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142707290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Catathrenia in a 52-year-old man","authors":"María José Abenza-Abildúa ,&nbsp;Beatríz Sánchez-García ,&nbsp;Vanesa Lores-Gutiérrez","doi":"10.1016/j.medcle.2024.05.021","DOIUrl":"10.1016/j.medcle.2024.05.021","url":null,"abstract":"","PeriodicalId":74154,"journal":{"name":"Medicina clinica (English ed.)","volume":"163 10","pages":"Pages 527-528"},"PeriodicalIF":0.0,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142705608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Digital devices for heart rhythm monitoring in atrial fibrillation patients scheduled for elective electrical cardioversion","authors":"Juan Benezet-Mazuecos ,&nbsp;Pau Alonso ,&nbsp;José Miguel Lozano ,&nbsp;Jefferson Salas ,&nbsp;Oscar González Lorenzo ,&nbsp;Moisés Rodríguez-Mañero ,&nbsp;Irene Narváez ,&nbsp;Álvaro Lozano ,&nbsp;Ángel Miracle ,&nbsp;Julián Crosa ,&nbsp;Isabel Barrio","doi":"10.1016/j.medcle.2024.07.008","DOIUrl":"10.1016/j.medcle.2024.07.008","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>Management in recent-onset atrial fibrillation (AF) is to achieve sinus rhythm (SR) by cardioversion (CV). However, frequently SR is spontaneously restored, making scheduled admission unnecessary and causing misutilization of healthcare resources. Emerging medical technology allows accurate heart rhythm monitoring. This study evaluated this technology in these patients, preventing unnecessary admission and providing an earlier management.</div></div><div><h3>Methods</h3><div>A multicenter study was designed including patients with AF scheduled for elective electrical CV. Patients submitted ECG recordings to a central Corelab daily, twice a day and whenever they present symptoms, until CV (spontaneous or scheduled) and a week afterwards. Whenever a spontaneous conversion to SR was detected, investigators were contacted to confirm SR and abort admission. Patients’ satisfaction was evaluated using a test for perceived utility, convenience, and accessibility.</div></div><div><h3>Results</h3><div>74 patients were enrolled (age 62 ± 10 years). Twenty-two patients (30%) showed spontaneous conversion to SR. A total of 22 admissions and 16 transesophageal echocardiograms were prevented. Among 52 patients admitted for CV, 45 (88%) were discharged in SR. During follow-up after conversion to SR (spontaneous or electrical), recurrences of AF occurred in 24 patients (34%). At the end of the follow-up 51 patients (69%) remained in SR. The CoreLab received 93% of the expected ECG transmissions. Patient’s overall satisfaction score was 9.1 over 10.</div></div><div><h3>Conclusion</h3><div>Digital devices for heart rhythm monitoring can optimise the management of AF patients scheduled for elective CV, preventing unnecessary admissions and providing a more rational use of healthcare resources.</div></div>","PeriodicalId":74154,"journal":{"name":"Medicina clinica (English ed.)","volume":"163 10","pages":"Pages 496-502"},"PeriodicalIF":0.0,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142707298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Auricular myoclonus in hepatic encephalopathy","authors":"Juan Alcalá Torres,&nbsp;Maialen González Arbizu,&nbsp;Carla Amarante Cuadrado,&nbsp;Paloma Martín Jiménez","doi":"10.1016/j.medcle.2024.02.022","DOIUrl":"10.1016/j.medcle.2024.02.022","url":null,"abstract":"","PeriodicalId":74154,"journal":{"name":"Medicina clinica (English ed.)","volume":"163 10","pages":"Pages e104-e105"},"PeriodicalIF":0.0,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142705612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of Fabry disease in patients with left ventricular hypertrophy and renal involvement (PrEFaCe)","authors":"Cristina García Sebastián ,&nbsp;Vicente Climent Payá ,&nbsp;Juan Carlos Castillo ,&nbsp;José Ángel Urbano-Moral ,&nbsp;Aurora Ruz Zafra ,&nbsp;María José Valle Caballero ,&nbsp;José Luis Zamorano","doi":"10.1016/j.medcle.2024.06.006","DOIUrl":"10.1016/j.medcle.2024.06.006","url":null,"abstract":"<div><h3>Introduction and aims</h3><div>Fabry disease (FD) causes glycosphingolipid accumulation in the vascular endothelium, with predominantly cardiac and renal involvement. Its prevalence in patients with concomitant involvement of these two organs is unknown. The objective of the study was to determine the prevalence of FD in patients with left ventricular hypertrophy and any degree of chronic kidney disease.</div></div><div><h3>Patients and methods</h3><div>Patients with ventricular thickness ≥ 13 mm and kidney disease from 29 Spanish hospitals were included. Sociodemographic variables and target organ involvement of FD were collected. Laboratory determinations of EF were carried out, with an enzymatic activity test ± genetic test in men and direct genetic test in women.</div></div><div><h3>Results</h3><div>Eight hundred ninety-eight patients with left ventricular hypertrophy and chronic kidney disease were included. The presence of heart failure and cardiorenal syndrome was common (46.1% and 40.1%). 3 patients (2 men and 1 woman) were diagnosed with FD, based on the presence of a pathogenic variant in the GLA gene and classic signs of FD, resulting in a prevalence of 0.33% (CI 95% 0.06%–1%). 6 patients (0.66%) presented genetic variants of unknown significance, without showing classic signs of FD, while in 13 patients (3.2%) performing the blood test was impossible.</div></div><div><h3>Conclusions</h3><div>FD is an important cause of left ventricular hypertrophy and chronic kidney disease. Genetic diagnosis is crucial for avoiding biases and ensuring accurate identification of FD, especially in women. The results support the inclusion of this disease in the differential diagnosis of patients with ventricular hypertrophy ≥ 13 mm and chronic kidney disease.</div></div>","PeriodicalId":74154,"journal":{"name":"Medicina clinica (English ed.)","volume":"163 10","pages":"Pages 503-508"},"PeriodicalIF":0.0,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142707299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}