Medicina clinica (English ed.)最新文献

英文中文

Aortic dissection 主动脉夹层

Medicina clinica (English ed.)

Pub Date : 2024-11-15 DOI: 10.1016/j.medcle.2024.02.020

Sandra Mayordomo , Marta Gómez , Carlos Martín

引用次数: 0

Hereditary haemochromatosis: Prevalence and characterization of the disease in a tertiary hospital in Aragon, Spain 遗传性血色病：西班牙阿拉贡一家三级医院的发病率和疾病特征

Medicina clinica (English ed.)

Pub Date : 2024-11-15 DOI: 10.1016/j.medcle.2024.05.017

Claudia Abadía Molina , Nuria Goñi Ros , Ricardo González Tarancón , Luis Rello Varas , M. del Valle Recasens Flores , Silvia Izquierdo Álvarez

Background

The main genetic cause of iron overload is haemochromatosis (HC). In recent years, the study of non-HFE genes (HFE2, HJV, HAMP, TRF2, SLC40A1, and BMP6) 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.

Methods

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 (HFE2, HJV, HAMP, TRF2, SLC40A1, and BMP6), used bioinformatics tools, consulted different databases and measured clinical parameters (laboratory and imaging).

Results

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-HFE genes and 4 in HFE gene, of which 6 were classified as variant of uncertain clinical significance (VUS), or likely pathogenic or pathogenic according to the ACMG classification criteria.

Conclusion

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.

背景铁超载的主要遗传原因是血色沉着病（HC）。近年来，由于下一代测序（NGS）和多重连接依赖性探针扩增（MLPA）技术的发展，对非 HFE 基因（HFE2、HJV、HAMP、TRF2、SLC40A1 和 BMP6）的研究变得越来越重要。我们的目标是估算在阿拉贡一家三甲医院就诊的 HFE（C282Y/HY63D 变体）和非 HFE 变体的患病率，预测变体对蛋白质的影响，并建立基因型与表型的相关性，评估临床情况。方法：从 2006 年到 2020 年，对阿拉贡一家 HC 参考医院接受遗传咨询的患者进行了回顾性描述性研究。我们计算了 HFE 和非 HFE 变异的患病率。我们分析了非 HFE 基因（HFE2、HJV、HAMP、TRF2、SLC40A1 和 BMP6），使用了生物信息学工具，查阅了不同的数据库，并测量了临床参数（实验室和影像学）。非 HFE HC 变异的发生率为病例总数的 1.94%，我国人口的 0.008%。我们在非 HFE 基因中发现了 27 个变体，在 HFE 基因中发现了 4 个变体，根据 ACMG 分类标准，其中 6 个变体被归类为临床意义不确定的变体（VUS），或可能致病或致病的变体。尽管一些基因发现可以解释部分患者的临床症状，但仍有大量患者没有明确的分子诊断。

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引用次数: 0

Clinical and subclinical arteriosclerotic disease in octagenarians with hip fracture. A case–control study 髋部骨折八旬老人的临床和亚临床动脉硬化疾病。病例对照研究

Medicina clinica (English ed.)

Pub Date : 2024-11-15 DOI: 10.1016/j.medcle.2024.05.015

Aina Capdevila-Reniu , Margarita Navarro-López , Cristina Sierra-Benito , Victor Sapena , Ana Suárez-Lombraña , Miguel Camafort-Babkowski , Alfonso López-Soto

Background and objectives

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.

Patients and methods

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.

Results

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.

Conclusions

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.

背景和目的评估老年髋部骨折患者与非骨折患者的临床和亚临床动脉硬化疾病，以增加对老年人两种疾病之间关系的了解。研究分析了血管风险因素、亚临床血管疾病（通过颈动脉斑块、颈动脉内膜厚度和动脉僵化度评估）以及心血管疾病。采用单变量和多变量逻辑模型估算出几率比（OR）及其 95% 的置信区间（CI），以评估动脉硬化与髋部骨折的关系。结果我们分析了每组 95 名患者，中位年龄为 82 [79-87] 岁，其中 77.9% 为女性。两组患者的血管疾病发生率均较高（25%），但无差异。与对照组相比，髋部骨折患者的亚临床动脉硬化改变更高，颈动脉斑块的比例更高（OR 3.25 [1.06-9.97]）。结论与无髋部骨折的患者相比，高龄髋部骨折患者的亚临床改变显著增加，但心血管动脉硬化疾病的发生率并未增加。

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引用次数: 0

Immunothrombosis: A key mechanism in the COVID-19 pandemic 免疫血栓形成：COVID-19 大流行的关键机制

Medicina clinica (English ed.)

Pub Date : 2024-11-06 DOI: 10.1016/j.medcle.2024.10.002

José A. Páramo, María Marcos-Jubilar

引用次数: 0

Has the first treatment of type 2 diabetes mellitus changed? 2 型糖尿病的首次治疗方法有变化吗？

Medicina clinica (English ed.)

Pub Date : 2024-10-31 DOI: 10.1016/j.medcle.2024.05.020

Lilliam Flores, Josep Vidal

引用次数: 0

Type A aortic dissection following transcatheter aortic valve implantation 经导管主动脉瓣植入术后的 A 型主动脉夹层

Medicina clinica (English ed.)

Pub Date : 2024-10-31 DOI: 10.1016/j.medcle.2024.05.019

Antonio Padilla-Serrano , María Lara Ruiz Gómez , Antonio Cárdenas Cruz

引用次数: 0

Catathrenia in a 52-year-old man 一名 52 岁男子的 Catathrenia

Medicina clinica (English ed.)

Pub Date : 2024-10-31 DOI: 10.1016/j.medcle.2024.05.021

María José Abenza-Abildúa , Beatríz Sánchez-García , Vanesa Lores-Gutiérrez

引用次数: 0

Digital devices for heart rhythm monitoring in atrial fibrillation patients scheduled for elective electrical cardioversion 用于心房颤动患者心律监测的数字设备，计划进行选择性电复律

Medicina clinica (English ed.)

Pub Date : 2024-10-31 DOI: 10.1016/j.medcle.2024.07.008

Juan Benezet-Mazuecos , Pau Alonso , José Miguel Lozano , Jefferson Salas , Oscar González Lorenzo , Moisés Rodríguez-Mañero , Irene Narváez , Álvaro Lozano , Ángel Miracle , Julián Crosa , Isabel Barrio

Introduction and objectives

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.

Methods

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.

Results

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.

Conclusion

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.

导言和目的对新近发生的心房颤动（房颤）的处理是通过心脏电复律（CV）达到窦性心律（SR）。然而，窦性心律经常会自发恢复，因此没有必要按计划入院，造成医疗资源的滥用。新兴的医疗技术可实现精确的心律监测。这项研究评估了该技术在这些患者中的应用情况，以避免不必要的入院治疗，并提供早期管理。患者每天向中央心电图室提交两次心电图记录，并在出现症状时提交心电图记录，直至发生心电图改变（自发或预定），一周后提交心电图记录。一旦发现患者自发转为心律失常，就会联系调查人员确认心律失常并取消入院。使用感知效用、便利性和可及性测试对患者的满意度进行评估。22名患者（30%）自发转为SR。共有 22 人入院，16 人接受了经食道超声心动图检查。在 52 名因心血管疾病入院的患者中，有 45 人（88%）以 SR 出院。在转为 SR（自发或电击）后的随访期间，有 24 名患者（34%）再次出现房颤。随访结束时，51 名患者（69%）仍处于 SR 状态。CoreLab 收到了 93% 的预期心电图传输。患者的总体满意度为 9.1 分（满分 10 分）。结论用于心律监测的数字设备可以优化对计划接受择期 CV 治疗的房颤患者的管理，避免不必要的入院治疗，更合理地利用医疗资源。

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引用次数: 0

Auricular myoclonus in hepatic encephalopathy 肝性脑病中的耳廓肌阵挛

Medicina clinica (English ed.)

Pub Date : 2024-10-31 DOI: 10.1016/j.medcle.2024.02.022

Juan Alcalá Torres, Maialen González Arbizu, Carla Amarante Cuadrado, Paloma Martín Jiménez

引用次数: 0

Prevalence of Fabry disease in patients with left ventricular hypertrophy and renal involvement (PrEFaCe) 法布里病在左心室肥大和肾脏受累患者中的患病率 (PrEFaCe)

Medicina clinica (English ed.)

Pub Date : 2024-10-31 DOI: 10.1016/j.medcle.2024.06.006

Cristina García Sebastián , Vicente Climent Payá , Juan Carlos Castillo , José Ángel Urbano-Moral , Aurora Ruz Zafra , María José Valle Caballero , José Luis Zamorano

Introduction and aims

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.

Patients and methods

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.

Results

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.

Conclusions

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.

引言和目的法布里病（FD）会导致血管内皮糖磷脂积聚，主要累及心脏和肾脏。该病在同时累及这两个器官的患者中的发病率尚不清楚。这项研究的目的是确定左心室肥厚和任何程度的慢性肾脏疾病患者的 FD 患病率。收集了社会人口学变量和 FD 的靶器官受累情况。结果共纳入 898 名左心室肥厚和慢性肾病患者。心力衰竭和心肾综合征是常见病（46.1% 和 40.1%）。根据 GLA 基因致病变体的存在和 FD 的典型体征，3 名患者（2 男 1 女）被诊断为 FD，患病率为 0.33% (CI 95% 0.06%-1%)。有 6 名患者（0.66%）出现了意义不明的基因变异，但没有表现出典型的 FD 征兆，而有 13 名患者（3.2%）无法进行血液检测。基因诊断对于避免偏差和确保准确识别 FD（尤其是女性）至关重要。研究结果支持将该病纳入心室肥大≥13 毫米和慢性肾脏病患者的鉴别诊断中。

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Medicina clinica (English ed.)

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