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Estudios genéticos en diagnóstico prenatal. Recomendación (2018) 产前诊断的遗传学研究。建议(2018年)
Pub Date : 2019-01-01 DOI: 10.1016/j.labcli.2018.10.001
Pilar Carrasco Salas , Clara Gómez González , Carmen Prior de Castro , Ana Cuesta Peredo , María Santamaría González , Reyes Granell Escobar , María José Alcaine , Cristina Torreira Banzas , Alfredo Reparaz Andrade , Begoña Ezquieta Zubicaray

The term prenatal diagnosis includes all diagnostic modalities aimed at detecting a congenital anomaly during pregnancy that includes structural or functional disorders. A percentage of them are due to genetic factors. This document intends to detail the current indications of invasive and non-invasive tests, describe the laboratory tests used in the prenatal diagnosis of genetic alterations, and propose work schemes for the study of these genetic alterations.

产前诊断一词包括旨在检测怀孕期间的先天性异常(包括结构或功能障碍)的所有诊断方式。其中一部分是由遗传因素造成的。本文件旨在详细说明侵入性和非侵入性检查的当前适应症,描述用于遗传改变产前诊断的实验室检查,并提出研究这些遗传改变的工作计划。
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引用次数: 1
El selenio y la desnutrición e inflamación. Estudio preliminar en enfermedad renal crónica avanzada 硒、营养不良和炎症。晚期慢性肾脏疾病的初步研究
Pub Date : 2019-01-01 DOI: 10.1016/j.labcli.2018.10.004
Aránzazu Anadón Ruiz , Elena Martín Jiménez , Rafael Lozano Fernández , Victoria Seijas Martínez-Echevarría

Introduction

Protein-energy wasting and chronic inflammation in renal patients are related to an increase in mortality, as well as the occurrence of unresponsive anaemia and mineral and bone disease. The increase in oxidative stress, in which selenium plays a role, is among the causes of malnutrition and inflammation. The relationship between plasma or serum selenium and malnutrition and inflammation in adult patients undergoing renal replacement therapy is investigated.

Material and methods

Cross-sectional observational study that included 85 plasma specimens from patients on dialysis, and 118 from control subjects. Selenium and biochemical markers of nutrition, inflammation, and co-morbidities were measured. The comparisons were using Mann-Whitney, ANOVA and chi-squared tests. Correlations were estimated using Spearman's Rho.

Results

The median selenium was 58.2 μg/L in the patient group, and 89.3 μg/L in the control group (p < .001). Selenium correlated with albumin (Rho = 0.440), cholesterol (Rho = 0.278) and creatinine (Rho = 0.367) in the patient group. Patients classification based on selenium level led to significant differences between the 2 groups in time on dialysis (p < .018), albumin (p < .003), creatinine (p < .004), cholesterol (p < .038) and phosphate (p < .025).

Conclusions

Selenium positively correlates with nutritional markers in the group of patient group. According to selenium level, there are 2 populations differentiated by nutritional status and time on dialysis. Plasma selenium is a potentially useful marker for protein-energy wasting diagnosis.

肾脏患者的蛋白质能量浪费和慢性炎症与死亡率增加以及无反应性贫血、矿物质和骨病的发生有关。氧化应激的增加(硒在其中起作用)是导致营养不良和炎症的原因之一。研究了接受肾替代治疗的成人患者血浆或血清硒与营养不良和炎症的关系。材料和方法横断面观察性研究,包括85例透析患者的血浆标本和118例对照受试者的血浆标本。测量了硒和营养、炎症和合并症的生化指标。比较采用Mann-Whitney、ANOVA和卡方检验。使用Spearman's Rho估计相关性。结果患者组中位硒含量为58.2 μg/L,对照组为89.3 μg/L (p <措施)。患者组硒与白蛋白(Rho = 0.440)、胆固醇(Rho = 0.278)、肌酐(Rho = 0.367)相关。基于硒水平的患者分类导致两组患者透析时间差异有统计学意义(p <0.018),白蛋白(p <.003),肌酐(p <.004),胆固醇(p <0.038)和磷酸盐(p <.025)。结论患者组硒与营养指标呈正相关。根据硒水平,根据营养状况和透析时间划分为2个人群。血浆硒是诊断蛋白质能量浪费的潜在有用标志物。
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引用次数: 2
Importancia del laboratorio clínico en los estudios nutricionales en personas mayores que estén o no institucionalizadas 临床实验室在老年人营养研究中的重要性,无论是否制度化
Pub Date : 2019-01-01 DOI: 10.1016/j.labcli.2018.03.002
Rosario Pastor Martín , Josep A. Tur Marí , Jesus Pachón , Emilio Rodríguez , Patricia Cabrero Lobato , Angel San Miguel , María Pellón Olmedo , María Almudena Sánchez
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引用次数: 0
Importancia de las infecciones por Candida en neonatología 念珠菌感染在新生儿学中的重要性
Pub Date : 2019-01-01 DOI: 10.1016/j.labcli.2018.10.002
Angel San Miguel , María San Miguel Rodríguez , M. Almudena Sánchez Martín , M. Rosario Pastor , Jesus Pachón

Candida infections are one of the main causes of morbidity and mortality in preterm infants, and especially in preterm infants of very low birth weight (less than 1,500 g).

A review is presented on Candida infections in neonatology, neonatal intensive care units in preterm infants of very low birth weight and the advantages and disadvantages of the use of prophylaxis, mainly with fluconazole, and the associated risk factors.

The use of prophylaxis is not a practice used systematically in all hospitals or in all neonatal intensive care units. Its implementation depends on the incidence of Candida infection, the associated mortality, and the particular characteristics of the hospital.

Based on scientific evidence, the use of antifungal prophylaxis is not routinely suggested in all preterm infants (grade 2B). This is reserved for neonates weighing less than 1,000 g in centres with a high incidence of fungal infection. Also, in these cases the use of fluconazole against other antifungals is suggested due to the greater and more robust evidence.

念珠菌感染是导致早产儿发病和死亡的主要原因之一,特别是在极低出生体重的早产儿(小于1500克)中。本文综述了新生儿学、新生儿重症监护病房中极低出生体重的早产儿念珠菌感染,以及使用以氟康唑为主的预防方法的利弊,以及相关的危险因素。并非所有医院或所有新生儿重症监护病房都系统地采用预防措施。它的实施取决于念珠菌感染的发生率、相关的死亡率和医院的特点。根据科学证据,并非所有早产儿常规建议使用抗真菌预防(2B级)。这是为在真菌感染高发中心的体重小于1000克的新生儿保留的。此外,在这些情况下,由于有更多和更有力的证据,建议使用氟康唑对抗其他抗真菌药物。
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引用次数: 0
Fragmentar para facilitar y cumplimentar la recogida de orina de 24 h 碎片化,便于完成24小时尿液收集
Pub Date : 2019-01-01 DOI: 10.1016/j.labcli.2018.07.003
Manuel-María Ortega-Marlasca
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引用次数: 0
Intervalos de referencia para 25-hidroxivitamina D en población autóctona y aparentemente sana de Yucatán 尤卡坦土著和明显健康人群25-羟维生素D的参考范围
Pub Date : 2019-01-01 DOI: 10.1016/j.labcli.2018.09.003
Igrid García-González , Lorena Aurora Ek-Macías , Roger Iván López-Díaz , Aurea Noemí Yerves Sosa , Adrián Alejandro Ceballos-López , María E. López-Novelo

Introduction

25-hydroxyvitamin D [25(OH)D] is considered a marker of general health and its deficiency is a problem worldwide. There is still no consensus to define their optimal levels, with it being necessary to establish them for each population according to their ethnic characteristics and environmental factors to which they are exposed.

Objective

To determine the reference intervals for 25(OH)D in the native and apparently healthy population of Yucatan.

Methods

The study included 71 apparently healthy volunteers, female and male, between one and 65 years old, and originally from Yucatan. Serum levels of 25(OH)D were measured along with the determination of calcium, phosphorus, and parathormone levels due to their relationship with vitamin D metabolism. Reference intervals were calculated using parametric and robust methods. The skin phototype was recorded and the Garabedian test was applied to determine the daily intake of calcium and vitamin D.

Results

The mean value of 25(OH)D was 23.49 ± 5.60 ng/mL. The reference limits for total and gender-related 25(OH)D, and by gender were narrower and significantly different from those proposed by the manufacturer. A direct correlation was found between 25(OH)D levels and serum calcium (r = 0.36; P = .003) and an inverse one with intact parathormone (r = −0.44; P < .001). A diet rich in calcium and vitamin D is not sufficient to maintain the normal requirements of 25(OH)D in this population.

Conclusions

The proposed reference intervals are adequate to the peculiarities of the population of Yucatan and could improve the accuracy of health status measurement based on serum levels of vitamin D.

25-羟基维生素D [25(OH)D]被认为是一般健康的标志,其缺乏是一个世界性的问题。对于确定其最佳水平仍然没有达成协商一致意见,有必要根据每个人口的种族特征和他们所接触的环境因素来确定这些水平。目的确定尤卡坦半岛本地和表面健康人群25(OH)D的参考区间。研究包括71名健康的志愿者,年龄在1岁到65岁之间,来自尤卡坦半岛。测定血清25(OH)D水平,同时测定钙、磷和甲状旁激素水平,因为它们与维生素D代谢有关。采用参数化鲁棒方法计算参考区间。结果25(OH)D的平均值为23.49±5.60 ng/mL。总25(OH)D和与性别相关的25(OH)D以及按性别划分的参考值较窄,与制造商提出的参考值有显著差异。25(OH)D水平与血清钙有直接相关性(r = 0.36;P = 0.003),与完整甲状旁激素呈负相关(r = - 0.44;P & lt;措施)。在这个人群中,富含钙和维生素D的饮食不足以维持25(OH)D的正常需求。结论提出的参考区间符合尤卡坦人口的特点,可提高基于血清维生素D水平的健康状况测量的准确性。
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引用次数: 0
Recomendaciones para la optimización del uso de marcadores tumorales de utilización frecuente. Recomendación (2018) 优化常用肿瘤标志物使用的建议。建议(2018年)
Pub Date : 2019-01-01 DOI: 10.1016/j.labcli.2018.09.002
María Jesús Gaspar Blázquez, Jaume Trapé Pujol, Josep María Augé Fradera, Antonio Barco Sánchez, Rosa Carbonell Muñoz, Xavier Filella Pla, Antonio Fernández Suarez, Álvaro González Hernández, Antonio Martínez Peinado, Clara Pérez Barrios, Blanca Ortiz Muñoz, José Diego Santotoribio Camacho, Marta Sánchez-Carbayo, Rafael Molina Porto, Comisión de Marcadores Biológicos del Cáncer

This document describes the most frequent causes of error in the measurement of 13 serum protein tumour markers in their different phases: preanalytical, analytical and 14 postanalytic and recommendations to detect and solve problems, as well as the 15 interpretation of the results of the Tumor Markers in clinical practice.

本文描述了13种血清蛋白肿瘤标志物在其不同阶段(分析前、分析后和14种分析后)测量中最常见的误差原因,并提出了检测和解决问题的建议,以及临床实践中对肿瘤标志物结果的15种解释。
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引用次数: 2
Modelo de análisis del uso del laboratorio por los servicios de urgencias hospitalarios basado en el nivel de urgencia según clasificación del paciente por el sistema de triaje estructurado 根据结构化分诊系统对患者的分类,基于急诊级别的医院急诊服务实验室使用分析模型
Pub Date : 2019-01-01 DOI: 10.1016/j.labcli.2018.10.003
Javier Ulibarrena , Emilia Ramayo , Andrés Camacho , Susana Valverde , Francisco Ramírez , Sonia Martínez

Objective

The aim of this study is to describe the applicability and the results obtained by applying an analysis model of the use of laboratory diagnostics resources based on the distribution of patients in the emergency department made through the structured triage systems. This model allows studying whether or not they are used efficiently.

Methods

A database was compiled according to the triage level (TL) of the total number of emergency visits in 2017 (185,128) and requests for laboratory analyses in 4 hospitals. The Spanish triage system was used in all the selected cases. Four indicators were designed to link the triage level and the laboratory resources used (the number of required tests, and the relative value units used in each of the triage levels).

Results

When assessing the complexity of the laboratory requests based on the TL, the higher value of the TL (less complex emergency), the low-medium complexity of the requests for laboratory analyses; relative value units consumed for each clustered TL is higher for levels I, II, III 1,104,712.73 (67.68%) compared with the levels IV, V 527,526.92 (32.32%), emphasising the differences between the hospitals on the number of relative value units used in TL IV, V, 46% and 28%. When the number of requests corresponding to TL IV, V have been considered, the range runs from 63.76% to 35.78%.

Conclusions

The use of the resource of laboratory requests from the emergency department as a function of the level of triage, is possible. Results validate the utility of the proposed set of indicators as a management tool.

目的探讨基于结构化分诊系统对急诊科患者分布情况的实验室诊断资源利用分析模型的适用性及分析结果。这个模型允许研究它们是否被有效地使用。方法根据4家医院2017年急诊总人次(185128人次)的分诊等级(TL)和实验室分析要求编制数据库。所有选定病例均采用西班牙分诊系统。设计了四个指标,将分诊级别和使用的实验室资源(所需的检测次数和每个分诊级别使用的相对价值单位)联系起来。结果在基于TL评价实验室需求复杂性时,TL值越高(突发事件复杂性越低),实验室分析需求复杂性为中低水平;与四级、五级、五万七千六百二十六级(32.32%)相比,一级、二级、三级每个集束TL消耗的相对价值单位数量更高,为一百一十四万四千七百二十七(67.68%),强调了医院在四级、五级TL使用的相对价值单位数量上的差异,分别为46%和28%。当考虑TL IV、V对应的请求数时,范围为63.76% ~ 35.78%。结论利用急诊科实验室需求资源作为分诊水平的函数是可行的。结果验证了所提出的一套指标作为管理工具的效用。
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引用次数: 0
Identificación de líquidos biológicos de origen desconocido 来源不明的生物液体鉴定
Pub Date : 2018-10-01 DOI: 10.1016/j.labcli.2017.11.008
Gracia Valcárcel Piedra, Eva Guillén Campuzano, Laura Altimira Queral, Amparo Galán Ortega, Ana Hernando Holgado, Xavier Navarro Segarra, Paloma Oliver Sáez, Olaia Rodríguez Fraga, Alicia Ruiz Ripa, Laura Sahuquillo Frías, Luis García de Guadiana Romualdo

Clinical laboratories are regularly requested to analyze unusual body fluids of unknown origin. There is little in the literature about the identification of body fluids of uncertain origin. The purpose of this document is to perform an updated review on those constituents that may be useful as markers for identifying and diferentiating these unusual fluids. A review is presented on aspects such as the identification of a traumatic lumbar puncture or a cerebrospinal fluid leakage, the identification of a chylous or pseudochylous effusion, leakage of bile, pancreatic fluid, gastroesophageal fluid, or urine, in the serous cavities, as well as the amniotic fluid.

临床实验室经常被要求分析来历不明的不寻常体液。在文献中很少有关于不明来源体液的鉴定。本文件的目的是对这些成分进行更新的综述,这些成分可能是识别和区分这些异常流体的有用标记。回顾提出的方面,如识别创伤性腰椎穿刺或脑脊液漏,乳糜或假性乳糜积液,胆汁,胰液,胃食管液,或尿,在浆液腔渗漏,以及羊水的识别。
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引用次数: 0
Evaluación analítica del inmunoanálisis Lumipulse® G BRAHMS PCT para la medida de procalcitonina Lumipulse®G BRAHMS PCT免疫分析测定降钙素原的分析评价
Pub Date : 2018-10-01 DOI: 10.1016/j.labcli.2018.02.001
Luis García de Guadiana Romualdo , Verónica Ramos Arenas , Concepción Campillo Martín , María Isabel García Sánchez , Juan Antonio Vílchez Aguilera , María Dolores Albaladejo Otón

Introduction

Procalcitonin (PCT) is a useful biomarker for the management of patients with severe bacterial infection and sepsis. Different types of assays are currently available for its measurement. This study presents an evaluation of the analytical performance of the novel Lumipulse G BRAHMS PCT™ immunoassay on the Lumipulse 600II analyser.

Material and methods

This analytical evaluation included the calculation of the limit of blank, limit of detection, functional sensitivity, intra-assay and total imprecision, confirmation of linearity and the comparison with the ELECSYS BRAHMS PCT™ assay.

Results

Limit of blank, limit of detection and functional sensitivity were 0.0011 ng/mL, 0.0025 ng/mL, and 0.008 ng/mL, respectively. Intra-assay and total imprecision ranged from 0.78 to 2.16 and from 1.31 to 2.06, respectively, when control levels were used. The linearity was excellent (r=0.999) in the range of concentrations established by manufacturer. A highly significant agreement was found in the comparison between both assays (Lumipulse BRAHMS PCT = −0.016 + 1.006 * ELECSYS BRAHMS PCT). The mean bias was 0.2 ng/mL (95% CI: −0.906 to 0.430). When PCT levels were stratified according to the ranges normally used for their clinical interpretation, the agreement was very high (kappa index: 0.9874 (95% CI: 0.9696 to 1.0000).

Conclusion

The novel assay Lumipulse BRAHMS PCT, with CLEIA technology, appears to be acceptable for clinical use.

降钙素原(PCT)是治疗严重细菌感染和脓毒症患者的有用生物标志物。目前有不同类型的测定方法可用于其测量。本研究对新型Lumipulse G BRAHMS PCT™免疫分析在Lumipulse 600II分析仪上的分析性能进行了评估。材料和方法本分析评价包括空白限、检测限、功能灵敏度、测定内和总不精密度的计算、线性确认以及与ELECSYS BRAHMS PCT™测定法的比较。结果空白限为0.0011 ng/mL,检测限为0.0025 ng/mL,功能灵敏度为0.008 ng/mL。当使用对照水平时,测定内不精密度和总不精密度分别为0.78 ~ 2.16和1.31 ~ 2.06。在生产厂家规定的浓度范围内,线性良好(r=0.999)。在两种检测方法的比较中发现了高度显著的一致性(Lumipulse BRAHMS PCT = - 0.016 + 1.006 * ELECSYS BRAHMS PCT)。平均偏倚为0.2 ng/mL (95% CI: - 0.906 ~ 0.430)。当PCT水平根据通常用于临床解释的范围进行分层时,一致性非常高(kappa指数:0.9874 (95% CI: 0.9696至1.0000)。结论采用CLEIA技术的Lumipulse BRAHMS PCT检测方法可用于临床。
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引用次数: 0
期刊
Revista del Laboratorio Clínico
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