Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study.

BACKGROUND: Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, characterized by impaired epidermal barrier function and an altered immune response, both of which are influenced by vitamin D deficiency. Single-nucleotide polymorphisms (SNPs) in VDR and CYP24A1 have been previously associated with AD. OBJECTIVE: We sought to characterize the associations between the VDR and CYP24A1 polymorphisms and the vitamin D and lipid biochemical profile in children diagnosed with AD. METHODS: A total of 246 participants (143 patients with AD and 103 healthy controls) were enrolled in this study. Genotyping for polymorphisms in VDR (rs2239185, rs1544410, rs7975232, rs2238136, rs3782905, rs2239179, rs1540339, rs2107301, rs2239182, and rs731236) and CYP24A1 (rs2248359 and rs2296241) was performed by allele-specific polymerase chain reaction using integrated fluidic circuit technology. Serum levels of calcium, phosphorus, and vitamin D were measured, and the biochemical lipid profile was determined. RESULTS: Among VDR SNPs, rs2239182 exerted a protective effect against the development of AD, whereas rs2238136 was identified as a risk factor for AD. The GCC haplotype (rs2239185-G, rs1540339-C, and rs2238136-C) appeared to protect against the development of AD. rs2239182-CC was associated with higher 25(OH)D concentrations, whereas rs2238136-TT, rs2239185-GA, and rs2248359-TT were present in a large proportion of patients with serum vitamin D deficiency. rs2239185-AA, rs2239182-CC, and rs1540339-CC were associated with higher serum total cholesterol; rs2239182-TT was associated with lower low-density lipoprotein cholesterol; and rs2239182-TC with lower high-density lipoprotein cholesterol. Both CYP24A1 SNPs (rs2296241-AA and rs2248359-TT) were associated with higher high-density lipoprotein cholesterol levels. CONCLUSIONS: The VDR SNP rs2238136 is a risk factor for AD and other SNPs in VDR and CYP24A1, which may lead to alterations in biochemical parameters that influence the risk of AD. Our findings highlight the complex genetic basis to AD and indicate that interrelationships between different genetic factors can lead to alterations in vitamin D metabolism or lipid profiles, which in turn may influence the development of AD.

Malnutrition Screening and Assessment.

Malnutrition is a serious problem with a negative impact on the quality of life and the evolution of patients, contributing to an increase in morbidity, length of hospital stay, mortality, and health spending. Early identification is fundamental to implement the necessary therapeutic actions, involving adequate nutritional support to prevent or reverse malnutrition. This review presents two complementary methods of fighting malnutrition: nutritional screening and nutritional assessment. Nutritional risk screening is conducted using simple, quick-to-perform tools, and is the first line of action in detecting at-risk patients. It should be implemented systematically and periodically on admission to hospital or residential care, as well as on an outpatient basis for patients with chronic conditions. Once patients with a nutritional risk are detected, they should undergo a more detailed nutritional assessment to identify and quantify the type and degree of malnutrition. This should include health history and clinical examination, dietary history, anthropometric measurements, evaluation of the degree of aggression determined by the disease, functional assessment, and, whenever possible, some method of measuring body composition.

Effects of the COVID-19 pandemic on the activity of clinical laboratories in Spain, evolution in the 2019-2021 period.

Objectives: To assess the impact of the COVID-19 pandemic on the activity of clinical laboratories in Spain. Methods: A descriptive, observational, retrospective, multicenter study. Results: Between March and December 2020, there was a statistically significant decrease in the number of test requests (-17.7%, p=<0.001) and total tests performed (-18.3%, p<0.001) with respect to the same period in 2019. A decrease was observed in the number of requests from primary care (-37.4%) (p<0.001) and in the number of foecal occult blood (-45.8%); qualitative urine (-30.1%); PSA (-28.5%); TSH (-27.8%); total cholesterol (-27.2%) and HbA1c (-24.7%) tests performed, p<0.001. A significant increase was found in the number of requests from ICUs (76.6%, p<0.001) and number of IL-6 (+22,350.9), D-dimer (+617.2%), troponin (+46.8%) and arterial blood gas (+3.9%) tests carried out, p<0.001. During the first months of 2021, there were significant changes in the number of requests for qualitative urine (-8.7%, p<0.001), PSA (-6.3%, p=0.009), IL-6 (+66,269.2, p<0.001), D-dimer (+603.6%, p<0.001), troponin (+28.7%, p<0.001), arterial blood gas (+26,2%, p=0.014) and ferritin (+16.0%, p=0.002) tests performed. Conclusions: There were changes in the origin and number of test requested to clinical laboratories in Spain. The number of requests for the evaluation and monitoring of COVID-19 patients increased, whereas requests for the control of non-COVID patients and for population screening decreased. Long-term analysis reveals that the volume of tests performed for the control of chronic diseases returned to normal over time, whereas the increase observed in the volume of tests performed for the management of COVID-19 patients is maintained.

A novel pathogenic variant in LCAT causing FLD. A case report.

BACKGROUND: Fish-eye disease (FED) is due to a partial deficiency in LCAT activity. Nevertheless, Familial lecithin-cholesterol acyltransferase deficiency (FLD), also called Norum disease, appears when the deficiency is complete. They are both rare genetic disorders inherited in an autosomal recessive manner. Clinical signs include decreased circulating HDL cholesterol and dense corneal opacity. Kidney injuries also affect patients suffering from FLD. The diagnosis of FLD is based on the presence of characteristic signs and symptoms and confirmed by genetic testing. CASE PRESENTATION: We present a case of a 63-year-old man showing an altered lipid profile with low HDL cholesterol, chronic kidney disease (CKD) and corneal disorders. He was referred to genetic counseling in order to discard genetic LCAT deficiency due to decreased visual acuity caused by corneal opacity. A massive DNA sequencing was conducted using a multigene panel associated with lipid metabolism disturbances. RESULTS AND GENETIC FINDINGS: Two likely pathogenic variants in LCAT were identified and later confirmed by Sanger sequencing. Both (c.491 G > A and c.496 G > A) were missense variants that originated an amino acid substitution (164Arginine for Histidine and 166Alanine for Threonine, respectively) modifying the protein sequence and its 3D structure. CONCLUSIONS: FLD and FED sharing common biochemical features, and the existence of other diseases with similar clinical profiles underline the need for a timely differential diagnosis aiming to address patients to preventive programs and future available therapies. This case, added to the reduced number of publications previously reported regarding FLD and FED, contributes to better understanding the genetic characteristics, clinical features, and diagnosis of these syndromes.

Capillary glucose concentration during oral glucose tolerance test for the diagnosis of gestational diabetes.

OBJECTIVE: To assess concordance between two point-of-care testing (POCT) devices and the standard laboratory method in screening for gestational diabetes mellitus (GDM) in Huesca. METHODS: Pregnant women who met criteria for an oral glucose tolerance test (OGTT) and attended the laboratory between October 2017 and November 2018 were recruited in this prospective observational study. Glucose was measured in venous (laboratory) and capillary blood (Accu-Chek or Contour Next glucometers). GDM was diagnosed attending to NDDG criteria for venous samples or capillary-specific cut-off. Linear regression, Passing-Bablok, Bland-Altman, and the kappa coefficient were used to study concordance between POCT and laboratory method. RESULTS: Data from 109 women were analyzed (57 for Accu-Chek, 52 for Contour Next). Statistical analyses showed good agreement between both POCT and laboratory method. There were no statistical differences in fasting glucose measurements between capillary and venous samples and both POCT devices meet the ISO 15197 standard. Accu-Chek showed good agreement (k=0.629) regarding the laboratory method in classifying GDM, with an acceptable inter-evaluator bias of 3.5% (P<0.001). CONCLUSION: POCT can be used to obtain fasting values and reduce overall waiting times for patients. Additionally, Accu-Chek can be used to diagnose GDM in remote areas applying specific cut-off values.

Estrategia para el diagnóstico de las dislipidemias. Recomendación 2018 / Strategy for the diagnosis of dyslipidaemias

Las dislipidemias son alteraciones del metabolismo lipídico que cursan con concentraciones de lípidos alteradas, tanto por exceso como por defecto. Estas alteraciones están fuertemente asociadas con el proceso aterosclerótico, y se ha demostrado que el control de dichas alteraciones consigue disminuir la incidencia de episodios de origen isquémico. Diagnosticar las dislipidemias desde un punto de vista etiológico es muy importante, ya que el riesgo cardiovascular al que predispone cada una de ellas es diferente, dependiendo del tipo de lipoproteína que esté alterada y de su concentración. Por ello es de gran utilidad disponer de algoritmos diagnósticos sencillos que incluyan magnitudes del metabolismo lipídico disponibles en la mayoría de los laboratorios clínicos, con el fin de realizar el diagnóstico inicial del tipo de dislipidemia, en caso de poseer las herramientas diagnósticas adecuadas identificarla y, en caso contrario, disponer de la información apropiada para recomendar la ampliación del estudio en otro centro que disponga de los recursos necesarios para establecer el diagnóstico

Dyslipidaemias are alterations in lipid metabolism that involve an excess, as well as a deficit, in lipid concentrations. These alterations are strongly associated with atherosclerosis, and it has been shown that its control reduces the incidence of episodes of ischaemic origin. Diagnosing dyslipidaemias from an aetiological point of view is very important, since the cardiovascular risk to which each one predisposes is different, and depends on the type of lipoprotein that is altered and its concentration. For this reason, it is very useful to have simple diagnostic algorithms that include the measurements of lipid metabolism that are available in most clinical laboratories in order to make the initial diagnosis of the type of dyslipidaemia. In the case of having the right diagnostic tools, identify it; and if not, to have the appropriate information to recommend the extension of the study in another centre with resources to establish the diagnosis

Recomendaciones para la estandarización de la medida de lípidos y lipoproteínas. Recomendación (2018) / Recommendations for the standardisation of lipids and lipoproteins measurements. Recommendation (2018)

Este documento describe recomendaciones para la estandarización de la medida de las magnitudes lipídicas, puesto que resultan críticas para la toma de decisiones clínicas. Deben emplearse métodos recomendados validados frente a un método de referencia o definitivo, y materiales de control que cumplan con la Directiva Europea sobre Diagnóstico in vitro; deben cumplir también los objetivos recomendados por el National Cholesterol Education Program (NCEP) y la Sociedad Española de Medicina del Laboratorio (SEQCML). La determinación de colesterol de HDL por métodos homogéneos en equipos automatizados se considera aceptable para la práctica rutinaria, y la fórmula de Friedewald utilizable para estimar la concentración de colesterol de LDL siempre que las concentraciones de triglicéridos sean iguales o inferiores a 200mg/dL (2,3mmol/L); en otro caso, se recomienda utilizar la concentración de colesterol-no-HDL. La cuantificación rutinaria de apolipoproteínas A1 y B, y lipoproteína (a), puede efectuarse por métodos de inmunonefelometría e inmunoturbidimetría, con calibradores trazables a materiales de referencia

Some recommendations are presented for standardising the measurement of lipids and lipoproteins, as they are critical for clinical decisions making. Recommended methods validated against a reference or definitive method should be employed, as well as the use of control materials that comply with European Directives on in vitro diagnostics. Additionally, the chosen methods must comply with the objectives set forth by the National Cholesterol Education Program (NCEP) and by the Spanish Society of Laboratory Medicine (SEQCML). Determination of HDL cholesterol using automatic homogenous methods is considered acceptable for normal clinical practice, and the Friedewald Formula is considered to be usable to estimate LDL cholesterol concentration when triglyceride concentrations are below 200mg/dL (2.3mmol/L). If this should not be the case, the use of non-HDL cholesterol is recommended. Routine quantification of apolipoproteins A1 and B, and lipoprotein (a) can be measured using immunonephelometric or immunoturbidimetric methods, with calibrators that are traceable to reference materials

Malposición de catéter venoso central con resultado de hidrotórax en lactante tras cirugía cardiaca. A propósito de un caso / Hydrothorax in an infant induced by central venous catheter malposition after cardiac surgery. A case report

La perforación vascular con resultado de hidrotórax es una complicación poco frecuente de la colocación de un catéter venoso central. Debe sospecharse en aquellos pacientes con catéter venoso central en vena subclavia o yugular interna y derrame pleural con insuficiencia respiratoria y/o inestabilidad hemodinámica. Las pruebas radiológicas junto con una correcta interpretación de los resultados analíticos son clave para la realización de un diagnóstico rápido que evite complicaciones futuras. Se presenta el caso clínico de una lactante de un mes y 10 días que ingresa en unidad de cuidados intensivos tras cirugía cardiaca. Al ingreso en esta unidad se mantiene ventilación mecánica y catéter venoso central en vena yugular derecha, cuya correcta posición había sido comprobada mediante radiografía de tórax. A las 5-6 horas posteriores, se constata oliguria con hipotensión y aumento del débito por drenaje pleural, sospechando insuficiencia cardiaca. Dada la no mejoría clínica tras el tratamiento con fármacos vasoactivos, se realiza drenaje torácico para descartar quilotórax. Los resultados obtenidos tras el análisis del líquido pleural en el laboratorio de bioquímica clínica hacen sospechar de una posible contaminación con suero glucosalino, por lo que rápidamente es advertido al clínico solicitante. Ante esta situación se decide realizar una radiografía de tórax con contraste yodado, donde se evidencia extravasación del contenido de la vía central a cavidad pleural, con resultado de hidrotórax, procediendo a la retirada inmediata de dicha vía. La evolución posterior fue favorable y no hubo nuevas complicaciones (AU)

Hydrothorax as a result of vascular perforation is a rare complication of central venous catheter (CVC) and should be suspected in patients with subclavian or internal jugular vein catheterism as well as pleural effusion with respiratory failure and/or hemodynamic instability. A proper interpretation of the analytical results, in addition to radiological findings, is crucial for an early diagnosis that may avoid future complications. In this article we present a clinical case of an infant, aged one month and 10 days, who was admitted to the ICU after a cardiac surgery. Once in the ICU, mechanical ventilation and right jugular vein catheterism are maintained; the proper CVC placement had been previously verified by chest X-ray. After 5-6 hours the patient began to suffer from oliguria with hypotension and increased debt by pleural drainage, suspecting heart failure. There was no clinical improvement after treatment with vasoactive drugs so chest drainage was performed to discard chylotorax. The clinical biochemistry laboratory conducted a pleural fluid analysis. The results suggested contamination with glucosaline solution. Such results were reported to the applicant physician. According to the clinical situation a chest X-ray with iodinated contrast was performed evidencing an extravasation of the content of the CVC to pleural cavity, resulting in hydrothorax. The CVC was immediately removed. The subsequent evolution was favorable and there were no further complications (AU)

Effect of endurance and resistance training on regional fat mass and lipid profile.

The purpose of this study was to investigate the effect of 10-week of endurance training or resistance training on regional and abdominal fat, and in the lipid profile, examining the associations among the changes in body composition, weight, waist circumference and lipid profile. Body composition, waist circumference and lipid profile were analyzed in 26 volunteers healthy young men (age 22.5 ± 1.9 yr), randomly assigned to: endurance group (EG), resistance group (RG) or control group (CG). The EG significantly decreased after training the body weight, body mass index, total body fat and percentage of fat, fat and percentage of fat at the trunk and at the abdominal region and High-Density Lipoprotein. The RG significantly increased total lean mass and decreased total cholesterol, High-Density and Low- Density Lipoprotein. Close relationship were found among changes in weight, total lean mass, regional fat mass, waist circumference and changes in lipid profile (all p < 0.05). We concluded that 10-week of endurance training decreased abdominal and body fat in young men, while 10-week of resistance training increased total lean mass. These types of training had also effects on lipid profile that seem to be to some extent associated to changes in body composition; however it requires additional investigation.

El objetivo de este estudio fue investigar el efecto de 10 semanas de entrenamiento de resistencia ó fuerza sobre la cantidad de grasa en la región abdominal y sobre el perfil lipídico, analizando las asociaciones entre los cambios en composición corporal, peso, circunferencia de la cintura y perfil lipídico. La composición corporal, la circunferencia de la cintura y el perfil lipídico fueron analizados en 26 jóvenes (edad 22.5 ± 1,9 AÑOs), que se asignaron aleatoriamente a un grupo de resistencia (EG), un grupo de fuerza (RG) o al grupo control (CG). El EG disminuye significativamente, después del entrenamiento, el peso corporal, el índice de masa corporal, la cantidad total de grasa y el porcentaje de grasa, la grasa y porcentaje de grasa en el tronco y en la región abdominal y la lipoproteina de alta densidad. El RG mejoró significativamente la masa muscular total y disminuyeron el colesterol total, HDL y LDL. Se observó una relación estrecha entre los cambios en el peso, la masa magra total, la masa grasa regional, la cintura de la cadera y los cambio lipídicos (p < 0,05). Concluimos que 10 semanas de entrenamiento de resistencia disminuyen la grasa abdominal y corporal en sujetos jóvenes, mientras que 10 semanas de entrenamiento de fuerza aumentan la masa muscular total. Estos entrenamientos tienen un efecto sobre el perfil lipídico que parecen estar asociado a cambios en la composición corporal, no obstante, son necesarios más estudios.

Effect of endurance and resistance training on regional fat mass and lipid profile / Efecto del entrenamiento de resistencia y fuerza sobre la masa grasa regional y el perfil lípido

The purpose of this study was to investigate the effect of 10-week of endurance training or resistance training on regional and abdominal fat, and in the lipid profile, examining the associations among the changes in body composition, weight, waist circumference and lipid profile. Body composition, waist circumference and lipid profile were analyzed in 26 volunteers healthy young men (age 22.5 ± 1.9 yr), randomly assigned to: endurance group (EG), resistance group (RG) or control group (CG). The EG significantly decreased after training the body weight, body mass index, total body fat and percentage of fat, fat and percentage of fat at the trunk and at the abdominal region and High-Density Lipoprotein. The RG significantly increased total lean mass and decreased total cholesterol, High-Density and Low-Density Lipoprotein. Close relationship were found among changes in weight, total lean mass, regional fat mass, waist circumference and changes in lipid profile (all p < 0.05). We concluded that 10-week of endurance training decreased abdominal and body fat in young men, while 10-week of resistance training increased total lean mass. These types of training had also effects on lipid profile that seem to be to some extent associated to changes in body composition; however it requires additional investigation (AU)

El objetivo de este estudio fue investigar el efecto de 10 semanas de entrenamiento de resistencia ó fuerza sobre la cantidad de grasa en la región abdominal y sobre el perfil lipídico, analizando las asociaciones entre los cambios en composición corporal, peso, circunferencia de la cintura y perfil lipídico. La composición corporal, la circunferencia de la cintura y el perfil lipídico fueron analizados en 26 jóvenes (edad 22.5 ± 1,9 años), que se asignaron aleatoriamente a un grupo de resistencia (EG), un grupo de fuerza (RG) o al grupo control (CG). El EG disminuye significativamente, después del entrenamiento, el peso corporal, el índice de masa corporal, la cantidad total de grasa y el porcentaje de grasa, la grasa y porcentaje de grasa en el tronco y en la región abdominal y la lipoproteina de alta densidad. El RG mejoró significativamente la masa muscular total y disminuyeron el colesterol total, HDL y LDL. Se observó una relación estrecha entre los cambios en el peso, la masa magra total, la masa grasa regional, la cintura de la cadera y los cambio lipídicos (p < 0,05). Concluimos que 10 semanas de entrenamiento de resistencia disminuyen la grasa abdominal y corporal en sujetos jóvenes, mientras que 10 semanas de entrenamiento de fuerza aumentan la masa muscular total. Estos entrenamientos tienen un efecto sobre el perfil lipídico que parecen estar asociado a cambios en la composición corporal, no obstante, son necesarios más estudios (AU)

¿Podemos utilizar la apolipoproteína B en la toma de decisiones para la intervención en el riesgo cardiovascular de pacientes con triglicéridos elevados? / Can apolipoprotein B be used for making decisions on cardiovascular risk prevention in patients with raised triglycerides?

Objetivo. Analizar el valor predictivo de diversas aproximaciones: cuantificación de la concentración de apolipoproteína B (apoB), estimación del cLDLf y estimación del no-cHDL, como predictivos de elevaciones de la magnitud de la concentración de cLDL. Material y métodos. Estudio multicéntrico transversal en el que se han analizado las muestras rutinarias de 6.094 pacientes consecutivos. En cada paciente se ha cuantificado el cLDL mediante una técnica de ultracentrifugación de rutina (cLDLu) y la concentración de apoB por uno de los métodos inmunológicos estandarizados y se ha estimado el cLDLf y el no-cHDL. Las magnitudes obtenidas han sido utilizadas para analizar sus valores predictivos del cLDLu en función de tres grupos de concentración de Tg (<200, entre 200 y 400 y más de 400mg/dL) y los grupos de riesgo definidos por el ATPIII (cLDL>70, 100, 130 o 160mg/dL). Resultados y conclusiones. Con todas las magnitudes analizadas se obtiene un buen valor predictivo positivo, variable para las diferentes concentraciones de Tg y que es máximo para la apoB con puntos de corte de alta especificidad (AE). Las estimaciones con cLDLf infraestiman la situación de riesgo del paciente, mientras que las que utilizan el no-cHDL la sobreestiman. Conclusión. En pacientes con Tg<200mg/dL puede utilizarse prácticamente sin riesgo la fórmula de Friedewald; en pacientes con Tg elevados es recomendable la apoB (puntos de corte de AE) como predictor positivo y el no-cHDL como predictor negativo (AU)

Objective. To analyse the predictive value of several approaches to cardiovascular risk prevention: measuring apolipoprotein B concentrations (apoB), estimation of fractionated LDL cholesterol (cLDLf) and non-HDL cholesterol (HDLc), to predict increases in LDL cholesterol. Material and Methods. Cross-sectional multicentre study in which routine samples from 6094 consecutive patients were analysed. In each patient, LDLc was quantified by routine ultracentrifugation technique (LDLu) and apoB concentrations by a standard immunological method. We also estimated the LDLf and non-HDLc. The values obtained were used to analyse the predictive values of unfractionated LDL cholesterol (cLDLu) into three groups according to their triglyceride concentration (<200, between 200 and 400 and 400mg/dL) and risk groups as defined by the Adult Treatment Panel (ATP) III guidelines (LDL-C> 70, 100, 130 or 160mg/dL). Results and conclusions. With all the variables analysed we obtained a good positive predictive value, which varied according to the triglyceride concentrations, with the highest values being obtained for apoB with high specificity cut-off points (AE). Calculations with LDLf values underestimate the patient's risk, while those using non-HDLc overestimate it. Conclusion. The Friedewald formula can be used practically without risk in patients with triglycerides below 200mg/dL. In patients with elevated triglycerides, apoB (AE cut-off points) is recommended as a positive predictor, and non-HDLc as a negative predictor (AU)

Evaluación multicéntrica de distintos métodos para la determinación de colesterol HDL directo con respecto al colesterol HDL de precipitación / Multicentre evaluation of different methods for the determination of direct HDL-cholesterol compared to the precipitation method

Introducción. Los resultados de los programas de garantía de calidad indican que existen diferencias significativas entre los métodos homogéneos disponibles para la medición del colesterol HDL. Sin embargo, la posible influencia de efectos matriz en las muestras liofilizadas empleadas y la ausencia de un valor verdadero en estas muestras, hace difícil la valoración completa de estos métodos. En este estudio experimental multicéntrico hemos comparado los métodos homogéneos más utilizados en nuestro medio, con respecto al de precipitación de ácido fosfotúngstico-MgCl2. Material y métodos. Cada laboratorio procesó unas 100 muestras de suero de pacientes por uno o dos métodos homogéneos y envió alícuotas congeladas de las muestras analizadas al laboratorio central donde se procesaron por el método de precipitación. Resultados. Las imprecisiones de los métodos homogéneos fueron buenas e inferiores a las de precipitación, que cumplía las especificaciones de calidad para sesgo y error total (ET). Sin embargo, no todos los métodos homogéneos cumplían los objetivos de calidad mínimos, pues algunos procedimientos producían sesgos positivos muy altos (en relación al método de comparación) y uno un sesgo negativo muy bajo. El estudio de la concordancia, realizado estratificando a los pacientes según las concentraciones de colesterol HDL, mostró diferencias entre los métodos. Conclusiones. Estos resultados sugieren que existen discrepancias en la valoración de las magnitudes obtenidas con los métodos homogéneos, probablemente generada por una elevada inexactitud en algunos de ellos y que es conveniente que los laboratorios conozcan las caracteristicas de imprecisión y sesgo del metodo directo que utilizan con respecto al de referencia (AU)

Introduction. The results of quality assurance programs suggest that there are significant differences between the homogeneous methods available for the measurement of HDL cholesterol. However, the possible influence of matrix effects in the lyophilized samples used and the absence of a true value in these samples means that a full assessment of these methods cannot be made. In this multicentre pilot study we compared the most used homogeneous methods in our country with the phosphotungstic acid-MgCl2 method. Material and methods. Each laboratory processed about one hundred serum samples from patients with one or two homogeneous methods and sent frozen aliquots of the samples in special packaging with dry ice to the central laboratory where they were processed by the precipitation method. Results. The imprecision of homogeneous methods were good and lower than those of the precipitation method, and met the quality specifications for bias and total error (TE). However, not all homogeneous methods met the minimum quality objectives, as some procedures produced a very high positive bias (relative to the comparison method) and one, a low negative bias. In addition, the study of the agreement between methods, made by stratifying patients according to HDL cholesterol concentrations, showed differences. Conclusions. These results suggest that there are discrepancies in the assessment of the levels obtained with homogeneous methods, probably due to a high inaccuracy in some of them, and it is advised that the laboratories be aware of the characteristics of inaccuracy and bias of the direct method used compared to the reference method (AU)

Estudio genético de la implicación del gen USF1 en el desarrollo del síndrome metabólico / Genetic study of the involvement of the USF1 gene in the development of metabolic

El síndrome metabólico (SM) y la hiperlipidemia familiar combinada (HLFC) comparten una parte importante de sus rasgos clínicos, y se ha postulado para ambos una etiología parcialmente coincidente. Se considera que su expresión está afectada por múltiples loci genéticos, existiendo adicionalmente interacción genambiente. En este trabajo se explora la posible implicación en el desarrollo de SM de USF1, un gen previamente asociado con HLFC. Métodos Se desarrolló un estudio caso-control en el que se analizó la variabilidad genética en USF1 mediante genotipado por pirosecuenciación de los SNP rs2516837, rs2516838, rs6686076, rs2516839, rs2073653, rs2774276, rs2073656, rs2073658 y rs3737787. Se estudiaron 192 sujetos con SM según los criterios ATPIII y 197 sujetos control. Se analizaron las frecuencias alélicas y genotípicas y se estimaron los haplotipos compuestos por los citados polimorfismos. Se analizó estadísticamente la asociación de SNP aislados y haplotipos estimados con el desarrollo de SM. Resultados Las frecuencias de los 9 SNP estudiados mostraron que se encontraban en equilibrio de Hardy-Weinberg tanto en casos como en controles. Se apreció un importante grado de desequilibrio de unión entre ellos, pero las diferencias en su distribución entre casos y controles no alcanzaron significación estadística. La estimación de haplotipos de los SNP analizados en los grupos estudiados detectó 6 haplotipos principales, pero ninguno de ellos mostró una asociación estadísticamente significativa con la condición de SM. Conclusiones En la muestra de pacientes estudiados no se ha observado una asociación de la variabilidad genética en el locus USF1 con el desarrollo de SM definido según los criterios ATPIII (AU)

Introduction: Metabolic syndrome (MS) and familial combined hyperlipidemia (FCHL) sharemany clinical features and a partially overlapping etiology for these two entities has been postulated. The expression of these disorders may be affected by multiple genetic loci in additionto gene-environment interaction. This study explored the possible involvement of the USF1gene, which has previously been associated with FCHL, in the development of MS. Methods: A case-control study was performed to analyze genetic variation in USF1 defined bySNPs rs2516837, rs2516838, rs6686076, rs2516839, rs2073653, rs2774276, rs2073656, rs2073658,and rs3737787. SNP genotypes were determined by pyrosequencing in 192 subjects with MS according to the Adult Treatment Panel (ATP)-III criteria and 197 control subjects. Allelic andgenotypic frequencies were analyzed for each SNP isolated, and haplotypes were estimated for the combined polymorphisms. A statistical analysis was performed of the association of the SNPs and haplotypes with the development of MS. Results: The frequencies of the nine SNPs studied showed that they were in (..) (AU)

Enfermedad del hígado graso no alcohólico y riesgo cardiovascular / Non-alcoholic fatty liver disease and cardiovascular risk

La enfermedad del hígado graso no alcohólico (EHGNA) comprende una serie de lesiones hepáticas similares a las inducidas por el alcohol, en ausencia de su consumo. Su importancia radica en la alta prevalencia en nuestras sociedades occidentales y, desde el punto de vista hepático, en su progresiva evolución desde esteatosis a cirrosis y cáncer de hígado. Más recientemente, se ha observado que la EHGNA da lugar a frecuentes alteraciones en el metabolismo lipídico y a un incremento del riesgo cardiovascular con aceleración de la arteriosclerosis y de los eventos a ella vinculados. En la presente revisión se hace una actualización de lo publicado hasta la fecha sobre la etiopatogenia de la EHGNA, su influencia en el desarrollo de enfermedades cardiovasculares y las posibilidades terapéuticas vigentes (AU)

Non-alcoholic fatty liver disease (NAFLD) encompasses a series of liver lesions similar to those induced by alcohol but without alchol intake. The importance of this disease lies in its high prevalence in western countries and, from the hepatological point of view, in its progression from steatosis to liver cirrhosis and cancer. More recently, NAFLD has been observed to give rise to frequent alterations in lipid metabolism and an increased cardiovascular risk with acceleration of arteriosclerosis and related events. The present review provides an update on the literature published to date on the etiopathogenesis of NAFLD, its influence on the development of cardiovascular diseases and current therapeutic options (AU)