Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendations [0.03%]
产前筛查与诊断共识陈述
Belén Prieto,Begoña Adiego,Javier Suela et al.
Belén Prieto et al.
In this paper, the scientific societies SEGO, SEQCML and AEDP provide a series of consensus-based recommendations for prenatal screening and diagnosis of genetic abnormalities. A set of evaluation indicators are also proposed as a means to ...
Big data and artificial intelligence in future patient management. How is it all started? Where are we at now? Quo tendimus? [0.03%]
大数据与人工智能在将来患者管理中的应用。它到底是如何开始的？我们现在处于什么位置？我们将会走向何方？
Ashraf Mina
Ashraf Mina
Background: This article is focused on the understanding of the key points and their importance and impact on the future of early disease predictive models, accurate and fast diagnosis, patient management, optimise treatm...
Comparison of different methods used in drugs of abuse for sample validity testing including pH methods, specific gravity methods, TECO™ Drug Adulteration Test Strip and oxidant assay [0.03%]
包括pH方法、密度测定法、TECO™毒品掺伪试纸和氧化剂检测法的样本有效性测试比较研究
Ashraf Mina,John Stathopoulos,Taveet Sinanian et al.
Ashraf Mina et al.
Objectives: In the absence of sample validity testing, a healthcare provider may fail to identify a patient's adulteration of their urine sample. This study compared different methods for specific gravity (SG), pH, TECO™...
Leveraging omics to understand the molecular basis of acute-on-chronic liver failure [0.03%]
利用组学技术阐释急性-on-慢性肝功能衰竭的分子基础
Joan Clària
Joan Clària
Acute-on-chronic liver failure (ACLF) is a complex syndrome that develops in patients with acutely decompensated cirrhosis. In this condition, dysbalanced immune function and excessive systemic inflammation are closely associated with organ...
El laboratorio en el diagnóstico multidisciplinar del desarrollo sexual anómalo o diferente (DSD): III) Marcadores bioquímicos y genéticos en los 46,XY IV) Propuestas para el diagnóstico diferencial de los DSD [0.03%]
实验室在发育性性别差异或异常（DSD）的多学科诊断中的作用III) 生化和遗传标志物在46,XY DSD中的应用IV) DSD鉴别诊断的建议
Maria Luisa Granada,Laura Audí
Maria Luisa Granada
Objetivos: El desarrollo sexual anómalo o diferente (DSD) con cariotipo 46,XY incluye anomalías en el desarrollo gonadal y/o genital (externo y/o interno). ...
Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I [0.03%]
鉴定出一种新的人类黄嘌呤脱氢酶突变并导致Ⅰ型黄嘌呤尿症
Cristina Collazo Abal,Susana Romero Santos,Carmen González Mao et al.
Cristina Collazo Abal et al.
Objectives: Hereditary xanthinuria is a rare, autosomal and recessive disorder characterized by severe hypouricemia and increased xanthine excretion, caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO, EC: 1...
The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): I) Physiology, classification, approach, and methodologyII) Biochemical and genetic markers in 46,XX DSD [0.03%]
多学科性发育差异或紊乱诊断中的实验室作用I. 生理学、分类法、方法论及操作方式II. 46，XX性别发育异常的生化和基因标志物
Maria Luisa Granada,Laura Audí
Maria Luisa Granada
Objectives: The development of female or male sex characteristics occurs during fetal life, when the genetic, gonadal, and internal and external genital sex is determined (female or male). Any discordance among sex determ...
Heart-type fatty acid binding protein is related to severity and established cardiac biomarkers of heart failure [0.03%]
心型脂肪酸结合蛋白与心力衰竭的严重程度和已确定的心脏生物标志物相关
Damien Gruson,Christina Adamantidou,Sylvie A Ahn et al.
Damien Gruson et al.
Objectives: To determine concentrations of heart-type fatty acid-binding protein (HFABP) in patients with heart failure with reduced ejection fraction (HFrEF) and its potential value for prognostic assessment. ...
Hepatotoxicity with cholestatic pattern secondary to enoxaparin treatment [0.03%]
由依诺肝素治疗引起的以胆汁郁积为主的肝毒性副反应
Guillermo Velasco de Cos,Isabel Sánchez-Molina Acosta,Marta Iturralde Ros et al.
Guillermo Velasco de Cos et al.
Objectives: Treatment with low-molecular-weight heparins is very common in clinical practice. Exceptionally, some patients develop hepatitis within a few days of starting treatment, and rapid discontinuation of the drug i...
The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): III) Biochemical and genetic markers in the 46,XYIV) Proposals for the differential diagnosis of DSD [0.03%]
实验室在性发育差异或性发育障碍多学科诊断中的作用III）46，XY性发育障碍（DSD的生化和基因标志物IV）性发育障碍的鉴别诊断建议
Maria Luisa Granada,Laura Audí
Maria Luisa Granada
Objectives: 46,XY differences/disorders of sex development (DSD) involve an abnormal gonadal and/or genital (external and/or internal) development caused by lack or incomplete intrauterine virilization, with or without th...