Interferencia generada por la lipemia en la medición de constituyentes bioquímicos

Introducción. La turbidez por lipemia en las muestras para diagnóstico es una de las principales causas de la aparición de sesgos clínicamente significativos en la medición de magnitudes bioquímicas. Objetivo. Valorar la interferencia por lipemia en la medición de 25 constituyentes bioquímicos en dos analizadores con tecnología de química seca (Vitros 7600®) y química liquida (Atellica® Solution). Métodos. Estudio pre-experimental con pre y posprueba. Se añadieron cantidades crecientes de una emulsión lipídica de nutrición parenteral a siete alícuotas de una mezcla de sueros y se determinó por duplicado la influencia del interferente en 25 constituyentes. Se calculó el porcentaje relativo de desviación de la concentración del constituyente por influencia de la turbidez con respecto a una muestra sin interferente. Se establecieron límites de tolerancia para la interferencia utilizando tres criterios: del distribuidor de reactivos, del error sistemático deseable y del error máximo admisible. Resultados. Los constituyentes que presentaron los mayores sesgos para el analizador de química liquida fueron: fósforo (-84,72%), ALT (+81,25%) y AST (-75,76%), mientras que para la plataforma de química seca los constituyentes: ALT (-79,41%), CK (-28,92%) y lipasa (+24,85%). Se detectó interferencia significativa en diferente número de los constituyentes de acuerdo con el criterio de límite tolerable utilizado. Conclusiones. Los distintos resultados encontrados según la metodología y el analizador utilizado, además de la falta de replicabilidad de los ensayos para la valoración de interferencia por lipemia, origina la necesidad de armonizar los procesos e instaurar límites idénticos de interferencia tolerables entre los laboratorios y proveedores de insumos.

Introduction. Turbidity due to lipemia in diagnostic samples is one of the main causes of the appearance of clinically significant biases in the measurement of biochemical magnitudes. Objective. To assess the interference by lipemia in the measurement of 25 biochemical constituents in two analyzers with dry chemistry technology (Vitros 7600®) and liquid chemistry (Atellica® Solution). Methods. Pre-experimental study with pre and post test. Increasing amounts of a parenteral nutrition lipid emulsion were added to seven aliquots of pooled sera and the influence of the interferent on 25 constituents was determined in duplicate. The relative percentage deviation of the concentration of the constituent due to the influence of turbidity with respect to a sample without interference, was calculated. Tolerance limits for interference were established using three criteria: reagent distributor, desirable systematic error, and maximum permissible error. Results. The constituents that presented the greatest biases for the liquid chemistry analyzer were: Phosphorus (-84.72%), ALT (+81.25%) and AST (-75.76%), while for the dry chemistry platform the constituents, ALT (-79.41%), CK (-28.92%) and lipase (+24.85%). Significant interference was detected in a different number of constituents according to the tolerable limit criteria used. Conclusions. The different results found according to the methodology and the analyzer used, in addition to the lack of replicability of the tests for the evaluation of interference by lipemia, originates the need to harmonize the processes and establish identical limits of tolerable interference between the laboratories and suppliers of inputs.

Genotipificación de haptoglobina como factor de riesgo cardiovascular en pacientes diabeticos del Hospital Clínico Viedma

Objetivo: en pacientes con diabetes mellitus el genotipo de haptoglobina es considerado un factor de riesgo para la aparición de una cardiopatía, se ha reportado que en diabéticos el genotipo Hp 2-2 genera un riesgo cinco veces mayor de presentar una enfermedad cardiovascular comparado con pacientes diabéticos con otro genotipo. Este estudio tiene como objetivo la determinación del genotipo de haptoglobina en pacientes diabéticos que acuden al laboratorio el Hospital Clínico Viedma de noviembre de 2018 a enero de 2019. Métodos: se analizaron 76 sueros de pacientes diabéticos en ayunas y que contaban con una solicitud de perfil lipídico. Para la determinación de los tres genotipos de haptoglobina se usó un kit comercial de enzimoinmunoanalisis (ELISA Hp-Epitope); para la determinación de la glicemia y el perfil lipídico se usó el método enzimático. Resultados: del total de la población estudiada de pacientes diabéticos un 12 % presenta el genotipo Hp 2-2 en aquellos pacientes no controlados, los valores de glicemia (201 mg/dl) son estadísticamente significativas en relación con los otros dos genotipos. También estos pacientes diabéticos no controlados con genotipo Hp 2-2 presentan niveles de colesterol, LDL, VLDL y triglicéridos significativamente elevados en relación con los otros dos genotipos. Conclusiones: nuestros resultados coinciden con estudios previos el cual señalan que pacientes diabéticos que poseen el genotipo Hp 2-2 tiene mayor riesgo a sufrir una enfermedad cardiovascular en comparación con los otros 2 genotipos.

Objective: in patients with diabetes mellitus, the haptoglobin genotype is considered a risk factor for the onset of heart disease. It has been reported that in diabetics, the Hp 2-2 genotype generates a five-fold greater risk of developing cardiovascular disease compared to diabetic patients with another genotype. This study aims to determine the haptoglobin genotype in diabetic patients who come to the Viedma Clinical Hospital laboratory from November 2018 to January 2019. Methods: 76 sera from fasting diabetic patients with a lipid profile request were analyzed. For the determination of the three haptoglobin genotypes, a commercial enzyme immunoassay kit (Hp-Epitope ELISA) was used; The enzymatic method was used to determine glycemia and lipid profile. Results: of the total studied population of diabetic patients, 12% have the Hp 2-2 genotype. In those uncontrolled patients, the glycemia values (201 mg/dl) are statistically significant in relation to the other two genotypes. These uncontrolled diabetic patients with the Hp 2-2 genotype also have significantly elevated levels of cholesterol, LDL, VLDL and triglycerides in relation to the other two genotypes. Conclusions: our results coincide with previous studies which indicate that diabetic patients who have the Hp 2-2 genotype have a greater risk of suffering from cardiovascular disease compared to the other 2 genotypes.

Asociación entre factores de riesgo de enfermedad aterogénica en pacientes geriátricos / Association among risk factors for atherogenic disease in geriatric patients

RESUMEN Introducción: Las alteraciones del metabolismo lipídico constituyen un problema de salud muy frecuente, que se incrementan con la edad del individuo. Objetivo: Determinar la asociación entre factores de riesgo de enfermedad aterogénica en pacientes geriátricos atendidos en consulta del Hospital Universitario Clínico-Quirúrgico «Arnaldo Milián Castro¼. Métodos: Se realizó un estudio observacional, descriptivo, transversal, durante el período de septiembre de 2018 a septiembre de 2019. La muestra quedó conformada por 198 pacientes geriátricos, elegidos por muestreo probabilístico sistemático. Resultados: Predominó el sexo masculino; la edad de 60 a 69 años para ambos sexos, y el color de la piel blanca. Los factores clínicos de riesgo aterogénico más frecuentes fueron la hipertensión arterial y la diabetes mellitus. El perfil lipídico se caracterizó por valores elevados de colesterol total, VLDLc, LDLc, triglicéridos, apolipoproteína B, ambos índices lipídicos, y bajos de HDLc y apolipoproteínas A1. Conclusiones: Todas las determinaciones lipídicas mostraron significación estadística al relacionarlas con la edad, no siendo así con el sexo. La hipertensión arterial y la cardiopatía isquémica se asociaron de forma significativa con valores no deseables de colesterol total, VLDLc, LDLc, triglicéridos, apoproteína B y ambos índices lipídicos. La diabetes mellitus y el alcoholismo se asociaron con alteraciones de todas las fracciones lipídicas, excepto HDLc y apoproteína A1, respectivamente. Los pacientes fumadores presentaron valores no deseados de VLDLc, LDLc, e índice aterogénico, y los obesos de colesterol total, LDLc, triglicéridos y apoproteína B.

ABSTRACT Introduction: alterations in lipid metabolism are a very frequent health problem, which increase with the age of the individual. Objective: to determine the association among risk factors for atherogenic disease in geriatric patients treated in the consultation from "Arnaldo Milián Castro" Clinical and Surgical University Hospital. Methods: an observational, descriptive and cross-sectional study was carried out from September 2018 to September 2019. The sample was made up of 198 geriatric patients, chosen by systematic probabilistic sampling. Results: male gender, age from 60 to 69 years for both genders and white skin color predominated. The most frequent clinical atherogenic risk factors were arterial hypertension and diabetes mellitus. The lipid profile was characterized by high values of total cholesterol, VLDLc, LDLc, triglycerides, apolipoprotein B, both lipid indices, and low levels of HDLc and apolipoproteins A1. Conclusions: all lipid determinations showed statistical significance when relating them to age, but not to gender. Arterial hypertension and ischemic heart disease were significantly associated with undesirable values ​​of total cholesterol, VLDLc, LDLc, triglycerides, apoprotein B and both lipid indices. Diabetes mellitus and alcoholism were associated with alterations in all lipid fractions, except HDLc and apoprotein A1, respectively. Smokers had undesirable values ​​of VLDLc, LDLc, and atherogenic index, and obese patients of total cholesterol, LDLc, triglycerides, and apoprotein B.

Efectos secundarios metabólicos de los antipsicóticos de segunda generación / Metabolic side effects of second-generation antipsychotics

Resumen: Los antipsicóticos se prescriben ampliamente para el tratamiento de un gran número de problemas neuropsiquiátricos. Los antipsicóticos se dividen en dos clases de acuerdo con su estructura química, los típicos o de primera generación y los atípicos o de segunda generación. Estos últimos tienen mayores beneficios que los primeros porque producen menos efectos secundarios extrapiramidales; sin embargo, diversos estudios efectuados en humanos y en animales han relacionado su administración con efectos secundarios metabólicos, como obesidad, aumento de peso, diabetes, dislipidemias, síndrome metabólico y resistencia a la insulina. Debido a estos efectos se han establecido guías clínicas para el control y la vigilancia de los pacientes con algún tratamiento con este tipo de fármacos. El objetivo de este artículo es revisar algunos efectos secundarios metabólicos producidos por los antipsicóticos de segunda generación, así como su posible mecanismo de acción y el seguimiento o control metabólico que los pacientes en tratamiento con estos fármacos deben llevar. La búsqueda de los artículos se realizaron en las bases de datos PubMed, EBSCOHOST, DynaMed e IntraMed.

Abstract: Antipsychotics are widely prescribed to treat a large number of neuropsychiatric problems. Antipsychotics are divided in two classes according to their chemical structure, typical or first generation and the atypical or second generation. The second-generation antipsychotics have greater benefits because they produce less extrapyramidal side effects; however, several studies in both humans and animals have related their administration to metabolic side effects, such as obesity, weight gain, diabetes, dyslipidemia, metabolic syndrome and insulin resistance. Because of the effects, clinical guidelines for the control and monitoring of patients with a treatment with these drugs have been established. The aim of this paper is to review some metabolic side effects produced by the second-generation antipsychotics and its possible mechanism of action, as well as the metabolic control or monitoring that patients treated with these drugs should have. The research of the articles was made in the databases: PubMed, EBSCOHOST, DynaMed and IntraMed.

Elegibilidad para la indicación de inhibidores de PCSK9 según las recomendaciones de diferentes sociedades científicas / Eligibility for the indication of PCSK9 inhibitors according to the recommendations of different scientific societies

La reducción del colesterol-LDL (C-LDL) es un objetivo primordial en prevención cardiovascular. Estudios recientes demostraron beneficio clínico al administrar inhibidores de la proprotein convertase subtilisin/kexin-9 (iPCSK9) a pacientes que no habían logrado la meta de C-LDL con estatinas de alta intensidad y ezetimibe, sin embargo el uso de estos fármacos está limitado por su costo. El American College of Cardiology, la Sociedad Argentina de Cardiología y la European Society of Cardiology recomiendan una meta de C-LDL menor a 70 mg/dl en prevención secundaria, determinando umbrales de C-LDL de 70, 100 o 140 mg/dl respectivamente, para iniciar el tratamiento con iPCSK9. Con el objetivo de evaluar el esquema hipolipemiante prescripto en internados por síndrome coronario agudo o revascularización coronaria y analizar la proporción de elegibles para ser tratados con iPCSK9 en un escenario real y simulado, realizamos un estudio que incluyó 351 pacientes con enfermedad coronaria, tomados de una base de datos electrónica de un hospital universitario. El 48.4% recibió estatinas de elevada intensidad, 11.4% ezetimibe y 54.7% no logró la meta de C-LDL menor a 70 mg/dl. Utilizando un modelo de simulación en el que todos serían medicados con estatinas de elevada intensidad y ezetimibe, la elegibilidad para prescribir iPCSK9 fue de 31.1%, 12.8% y 9.1% según los umbrales de C-LDL determinados por las tres sociedades científicas. Nuestro estudio demostró una brecha entre las recomendaciones de los consensos para reducir el colesterol y la práctica habitual que debería ser minimizada para optimizar la relación costo/efectividad en prevención secundaria.

LDL-cholesterol (LDL-C) lowering is a primary objective in cardiovascular prevention. Recent studies demonstrated clinical benefit when proprotein convertase subtilisin/kexin-9 inhibitors (PCSK9i) were added to the treatment in patients who had not achieved the LDL-C goal despite being treated with high intensity statins and ezetimibe, however the use of these drugs is limited by their cost. The American College of Cardiology, the Argentine Society of Cardiology and the European Society of Cardiology recommend an LDL-C goal less than 70 mg/dl in secondary prevention, determining thresholds of LDL-C to start treatment with PCSK9i of 70, 100 or 140 mg/dl respectively. In order to evaluate the lipid-lowering regimen prescribed in patients hospitalized for acute coronary syndrome or coronary revascularization and analyze the proportion of eligible to be treated with PCSK9i in a real and simulated scenario, we conducted a study that included 351 patients with coronary disease collected from an electronic database of a university hospital. The 48.4% received high intensity statins, 11.4% ezetimibe and 54.7% did not achieve the LDL-C goal of less than 70 mg/dL. Using a simulation model in which all would be treated with high intensity statins and ezetimibe, the eligibility to prescribe PCSK9i was 31.1%, 12.8% and 9.1% according to the C- LDL thresholds determined by the three scientific societies. Our study demonstrated a gap between the consensus recommendations for LDL-C lowering and the current practice that should be minimized to optimize the cost/effectiveness ratio in secondary prevention.

Dyslipidemia in Adolescents Seen in a University Hospital in the city of Rio de Janeiro/Brazil: Prevalence and Association / Dislipidemia em Adolescentes Atendidos em um Hospital Universitário no Rio de Janeiro/Brasil: Prevalência e Associação

Abstract Background: Early exposure to obesity favors greater risks of cardiovascular factors such as dyslipidemia. Objectives: To establish the prevalence of dyslipidemia, and to evaluate its association with nutritional status of the adolescents attended at the ambulatory of the Adolescent Health Studies Center of the University Hospital Pedro Ernesto. Methods: This is a cross-sectional, observational study, the sample of which was of convenience, consisting of adolescents from 12 to 18 years old of both genders. The lipid profile was evaluated, along with its association with the anthropometric indicators: body mass index and waist circumference. For statistical analysis, a significance level of 5% was used. Results: A total of 239 adolescents, 104 boys (43.5%) and 135 girls (56.5%) were evaluated and, of these, 52 (21.8%) were eutrophic, 60 (25.1%) overweight, and 127 (53.1%) obese. Obeseadolescents had significantly lower mean values of HDL-cholesterol (44.7 mg/dl vs 53.9 mg/dl; p < 0.001) and higher triglycerides (109.6 mg/dl vs 87.3 mg/dl; p = 0.01). The changes with higher prevalence were low HDL-cholesterol (50.6%), hypercholesterolemia (35.1%), and hypertriglyceridemia (18.4%). A negative association of HDL-cholesterol with body mass index and a positive association of triglycerides with body mass index could be observed, even after adjustment for gender and skin color. Conclusion: This study demonstrated high prevalence of dyslipidemia among adolescents. In view of the significant association between lower levels of HDL-cholesterol and increased triglycerides with overweight, the control of these factors should receive attention, with the precocious diagnosis of the dyslipidemia being important, mainly if it is associated with another cardiovascular risk, to develop effective intervention strategies.

Resumo Fundamentos: Exposição precoce à obesidade favorece maiores riscos de fatores cardiovasculares como dislipidemias. Objetivos: Estabelecer a prevalência de dislipidemia e avaliar sua associação com o estado nutricional de adolescentes atendidos no ambulatório de atenção secundária do Núcleo de Estudos da Saúde do Adolescente do Hospital Universitário Pedro Ernesto. Métodos: Estudo transversal observacional, cuja amostra foi de conveniência e compreendeu adolescentes de 12 a 18 anos de ambos os sexos. Avaliado o perfil lipídico e sua associação com os indicadores antropométricos: índice de massa corporal e circunferência da cintura. Para as análises estatísticas foi utilizado nível de significância de 5%. Resultados: Foram avaliados 239 adolescentes, 104 meninos (43,5%) e 135 meninas (56,5%) e destes, 52 (21,8%) apresentaram eutrofia, 60 (25,1%) sobrepeso e 127 (53,1%) obesidade. Os adolescentes com obesidade apresentaram valores médios de HDL-colesterol significativamente menores (44,7 mg/dl vs. 53,9 mg/dl; p < 0,001) e triglicerídeos maiores (109,6 mg/dl vs. 87,3 mg/dl; p = 0,01). As alterações com maior prevalência foram HDL-colesterol baixo (50,6%), hipercolesterolemia (35,1%) e hipertrigliceridemia (18,4%). Foi possível observar associação negativa do HDL-colesterol com o índice de massa corporal e associação positiva dos triglicerídeos com o índice de massa corporal, mesmo após ajuste para gênero e cor da pele. Conclusão: Este estudo demonstrou alta prevalência de dislipidemia entre os adolescentes. Tendo em vista a associação significativa entre baixos níveis de HDL-colesterol e triglicerídeos aumentados com excesso de peso, o controle destes fatores deve receber atenção, sendo importante o diagnóstico precoce da dislipidemia principalmente se associada a outro risco cardiovascular, para desenvolvimento de estratégias de intervenção.

La lipemia en donantes de sangre y su asociación con el riesgo de enfermedades cardiovasculares / Lipidemia in Blood Donors and its Association with Risk of Cardiovascular Diseases

Fundamento: existe una subvaloración de la significación de la lipemia como indicador de problema de salud en individuos que acuden a donar sangre. Objetivo: estimar la prevalencia de factores de riesgo para enfermedades cardiovasculares y medir su asociación con la presencia de lipemia en donantes de sangre. Métodos: se realizó un estudio descriptivo, analítico de casos y controles con 33 y 66 pacientes respectivamente realizado en el Banco Provincial de Sangre de Cienfuegos, desde el 1ro de marzo hasta el 31 de octubre del año 2015. Los casos fueron identificados como positivos en la prueba de lipemia predonación y los controles, con prueba negativa. Se consideraron las variables: donantes aptos y no aptos, lipemia, edad, sexo, hábito de fumar, diabetes mellitus, hipertensión arterial, cintura abdominal, índice de masa corporal, triglicéridos, colesterol total y sus fracciones. Se calculó el coeficiente de correlación de Pearson para medir asociación entre variables con un intervalo de confianza del 95 %, Chi cuadrado X2 y Odds Ratio. Resultados: la lipemia representó el 30,6 % de las causas de rechazo en los donantes de sangre. Los principales factores de riesgo encontrados fueron lipoproteínas de baja densidad disminuida, lipoproteínas de baja densidad aumentada, obesidad, hipertrigliceridemia, hábito de fumar e hipertensión arterial. Las variables con valores más altos de los Odds Ratio fueron lostriglicéridos, lipoproteínas de baja densidad colesterol, cintura abdominal y el índice de masa corporal. Conclusiones: los donantes con plasma turbio tienen un perfil cardiometabólico más favorable para padecer enfermedades cardiovasculares que aquellos con prueba de lipemia negativa.

Foundation: there is an undervaluing of what lipidemia means as a sign of a health problem in individuals who go to donate blood. Objective: to estimate the prevalence of risk factors for cardiovascular diseases and to measure its association with the presence of lipidemia in blood donors. Methods: a descriptive analytic study of cases and controls with 33 and 66 patients respectivelyat the Cienfuegos Provincial Blood Bank, from March 1st to October 31st 2015. Cases were identified as positive at the pre-donating lipidemia test and the controls with negative test. The variables considered were: suitable and not suitable donors, lipidemia, age, smoking habit, diabetes mellitus, high blood pressure, abdominal waist, body mass index, triglycerides, total cholesterol and their fractions. It was calculated the Pearson correlation coefficient to measure the association among variables with a confidence interval of 95%, Squared Chi X2 and Odds Ratio. Results: lipidemia represented 30 % of the refusal causes in blood donors.The main risk factors found were decreased lipoproteins of low density, increased lipoproteins of low density obesity, hypertriglyceridemia, smoking habit and high blood pressure. The variables with higher values in Odd Ratios were triglycerides, abdominal waist, lipoproteins of low cholesterol level, abdominal waist and body mass index. Conclusion:donors with turbid plasma have a more favorable cardiometabolic profile to suffer from cardiovascular diseases than those with negative lipidemia

Implementación de un programa de angioplastia coronaria ambulatoria en pacientes con riesgo incrementado / Implementation of an Ambulatory Percutaneous Coronary Intervention Program in Higher Risk Patients

RESUMEN: Introducción: La hipercolesterolemia familiar es una hiperlipidemia primaria. Se trata de un trastorno genético autosómico dominante del metabolismo de las lipoproteínas, caracterizado por concentraciones plasmáticas elevadas de colesterol unido a lipoproteínas de baja densidad y presencia de xantomas tendinosos, y está asociado con el desarrollo prematuro de enfermedad cardiovascular. Objetivos: Investigar la presencia de mutaciones en el principal gen asociado al desarrollo de hipercolesterolemia familiar (LDLR) en un grupo de pacientes identificados como "casos índices", de entre aquellos que concurren al Servicio de Lípidos del Hospital Universitario Fundación Favaloro con diagnóstico clínico de hipercolesterolemia familiar. Determinar la composición ancestral de la población estudiada. Material y métodos: Se estudió una población de 38 pacientes con diagnóstico clínico de hipercolesterolemia familiar. La región codificante y las zonas intrónicas adyacentes del gen LDLR se secuenciaron automáticamente por el método de Sanger. Se investigó el componente ancestral de la población estudiada a partir del análisis de 46 marcadores informativos de ancestralidad (AIM-Indel). Resultados: Se identificaron 50 variantes diferentes, de las cuales el 48% se consideraron patogénicas. Se logró establecer una correlación genotipo-gravedad del fenotipo en el 60,5% de los pacientes estudiados. El componente ancestral de la población estudiada fue predominantemente europeo, seguido de un componente nativo-americano y, en menor proporción, africano. Conclusiones: El análisis genético por secuenciación del gen LDLR en pacientes identificados como "casos índices" con diagnóstico clínico de hipercolesterolemia familiar permite correlacionar el dato genético con la gravedad del fenotipo observado clínicamente y efectuar un diagnóstico en cascada en los miembros de la familia que presentan los criterios de inclusión considerados.

ABSTRACT: Background: Familial hypercholesterolemia is a primary hyperlipidemia. It is an autosomal dominant genetic disorder of lipoprotein metabolism, characterized by elevated plasma low-density lipoprotein cholesterol and presence of tendon xanthomas, and is associated with early cardiovascular disease. Objectives: The aim of this study was to investigate the presence of mutations in the main gene associated with the development of familial hypercholesterolemia (LDLR) in a group of patients identified as "index cases" attending the Lipid Clinic of the Hospital Universitario Fundación Favaloro with clinical diagnosis of familial hypercholesterolemia. The ancestral composition of the study population was determined. Methods: We evaluated 38 patients with clinical diagnosis of familial hypercholesterolemia. Mutation screening of the LDLR gene coding regions and adjacent intronic areas was performed using Sanger sequencing. The ancestral component of the study population was investigated using 46 ancestry inference markers (AIM-Indel). Results: Fifty different variants were identified, 48% of which were considered pathogenic. A genotype-phenotype severity correlation was established in 60.5% of the patients evaluated. The ancestral component of the study population was predominantly European, followed by native-American and African in lower proportion. Conclusions: Genetic testing by LDLR gene sequencing in patients identified as "index cases" with clinical diagnosis of familial hypercholesterolemia allows the correlation between the genetic information and the severity of the clinical phenotype to a cascade testing of the family members presenting the inclusion criteria considered.

Estudio genético de hipercolesterolemia familiar en una población hospitalaria de la Ciudad de Buenos Aires / Genetic Testing of Familial Hypercholesterolemia in a Hospital-Based Population of the City of Buenos Aires

RESUMEN: Introducción: La hipercolesterolemia familiar es una hiperlipidemia primaria. Se trata de un trastorno genético autosómico dominante del metabolismo de las lipoproteínas, caracterizado por concentraciones plasmáticas elevadas de colesterol unido a lipoproteínas de baja densidad y presencia de xantomas tendinosos, y está asociado con el desarrollo prematuro de enfermedad cardiovascular. Objetivos: Investigar la presencia de mutaciones en el principal gen asociado al desarrollo de hipercolesterolemia familiar (LDLR) en un grupo de pacientes identificados como "casos índices", de entre aquellos que concurren al Servicio de Lípidos del Hospital Universitario Fundación Favaloro con diagnóstico clínico de hipercolesterolemia familiar. Determinar la composición ancestral de la población estudiada. Material y métodos: Se estudió una población de 38 pacientes con diagnóstico clínico de hipercolesterolemia familiar. La región codificante y las zonas intrónicas adyacentes del gen LDLR se secuenciaron automáticamente por el método de Sanger. Se investigó el componente ancestral de la población estudiada a partir del análisis de 46 marcadores informativos de ancestralidad (AIM-Indel). Resultados: Se identificaron 50 variantes diferentes, de las cuales el 48% se consideraron patogénicas. Se logró establecer una correlación genotipo-gravedad del fenotipo en el 60,5% de los pacientes estudiados. El componente ancestral de la población estudiada fue predominantemente europeo, seguido de un componente nativo-americano y, en menor proporción, africano. Conclusiones: El análisis genético por secuenciación del gen LDLR en pacientes identificados como "casos índices" con diagnóstico clínico de hipercolesterolemia familiar permite correlacionar el dato genético con la gravedad del fenotipo observado clínicamente y efectuar un diagnóstico en cascada en los miembros de la familia que presentan los criterios de inclusión considerados.

ABSTRACT: Background: Familial hypercholesterolemia is a primary hyperlipidemia. It is an autosomal dominant genetic disorder of lipoprotein metabolism, characterized by elevated plasma low-density lipoprotein cholesterol and presence of tendon xanthomas, and is associated with early cardiovascular disease. Objectives: The aim of this study was to investigate the presence of mutations in the main gene associated with the development of familial hypercholesterolemia (LDLR) in a group of patients identified as "index cases" attending the Lipid Clinic of the Hospital Universitario Fundación Favaloro with clinical diagnosis of familial hypercholesterolemia. The ancestral composition of the study population was determined. Methods: We evaluated 38 patients with clinical diagnosis of familial hypercholesterolemia. Mutation screening of the LDLR gene coding regions and adjacent intronic areas was performed using Sanger sequencing. The ancestral component of the study population was investigated using 46 ancestry inference markers (AIM-Indel). Results: Fifty different variants were identified, 48% of which were considered pathogenic. A genotype-phenotype severity correlation was established in 60.5% of the patients evaluated. The ancestral component of the study population was predominantly European, followed by native-American and African in lower proportion. Conclusions: Genetic testing by LDLR gene sequencing in patients identified as "index cases" with clinical diagnosis of familial hypercholesterolemia allows the correlation between the genetic information and the severity of the clinical phenotype to a cascade testing of the family members presenting the inclusion criteria considered.

Síndrome metabólico en conductores de servicio público en Armenia, Colombia / Metabolic syndrome in public service drivers in Armenia, Colombia

RESUMEN Objetivo Caracterizar y comparar la población de conductores de servicio público de una empresa de transporte en Armenia, Colombia. Materiales y Métodos Estudio analítico de corte transversal en el cual participaron conductores de taxi y colectivo en una empresa de servicio público de Armenia, Colombia. El análisis de las variables se realizó por medio de Statgraphics Centurion XVI. Se de criben las variables, se lleva a cabo una regresión múltiple y una regresión logística. Resultados Participaron 125 conductores, de los cuales, ocho se retiraron y finalmente quedaron 117 de sexo masculino como objeto de investigación. El 28,21 % ha conducido colectivo y 71,79 % taxi. Se observó un mayor consumo de alcohol respecto al de tabaco. El 60,69 % no realizaba ningún tipo de ejercicio físico. El promedio de IMC y perímetro abdominal fue de 28,03 kg/m2 y 100,09 cm, respectivamente. La media de triglicéridos y HDL-c en suero fue de 207,53 mg/dL y 33,12 mg/dL. Del total de conductores, el 49,57 % cumplía con los criterios diagnósticos de METS. Se encontraron diferencias estadísticamente significativas en los valores de IMC, perímetro abdominal, presión arterial sistólica, presión arterial diastólica, ejercicio semanal, triglicéridos y glicemia en ayunas entre individuos con Síndrome Metabólico y sin éste. Conclusiones Los conductores de servicio público presentan un perfil de riesgo aumentado para desarrollar Síndrome Metabólico. La obesidad, la hipertrigliceridemia y los bajos niveles de HDL-c fueron los principales parámetros de alarma para la presencia de Síndrome Metabólico.(AU)

ABSTRACT Objective To characterize and compare the population of public service drivers of a transport company in Armenia, Colombia. Materials and Methods Taxi and bus drivers from a transport company of Armenia, Colombia participated in an Analytical cross-sectional study. The analysis of the variables was made through Statgraphics Centurion XVI. The comparison of variables as well as multiple and logistic regression were carried out. Results 125 individuals participated, 8 were removed, and finally there were 117 male drivers as aim of research. The 28.21 % of individuals have driven small buses and the 71.79 % have driven cars. The increase in alcohol consumption was remarkable compared to tobacco. The 60.69 % of subjects did not get exercise. Besides, the BMI average and abdominal circumference was 28.03 kg/m2 and 100.09 cm respectively. The triglyceride average and serum HDL-C were 207.53 mg/dL to 33.12 mg/dL. 49.57 % of all drivers, fulfilled the Metabolic Syndrome diagnostic criteria. Statistically significant differences were found in the values of BMI, waist circumference, systolic blood pressure, diastolic blood pressure, weekly exercise, triglycerides and fasting glucose between individuals with and without Metabolic Syndrome. Conclusion Public service drivers have a profile risk for developing Metabolic Syndrome. Obesity, hypertriglyceridemia and low HDL-C were the main alarm parameters of the presence of Metabolic.(AU)Syndrome.

Prevalencia de sobrepeso, obesidad y dislipidemia en trabajadores de salud del nivel primario / Prevalence of overweight, obesity and dyslipidemia in health workers at the primary level

La dislipidemia y la obesidad constituyen factores modificables de riesgo cardiovascular. El objetivo de este estudio es determinar la prevalencia de sobrepeso, obesidad y dislipidemia en trabajadores de la salud. Este es un estudio transversal en el que el muestreo fue aleatorio con afijación proporcional y se incluyeron 163 trabajadores de áreas de la salud. Se evaluaron el índice de masa corporal y el perímetro abdominal. Se consideraron colesterol total (CT) elevado > 200 mg/dl, LDL-C > 100 mg/dl, HDL-C bajo (varones HDL-C < 40 mg/dl y mujeres HDL-C < 50 mg/ dl), y triglicéridos ≥ 150 mg/d. La prevalencia de hipercolesterolemia fue 30,1 %, triglicéridos 40,5%, HDL bajo 69,3%, LDL elevado 55,2%, y la dislipidemia global fue 87,7%. La mediana de triglicéridos (p=0,034) y LDL-C fue mayor en varones que en mujeres (p=0,038). La LDL-C aumentó con la edad (p=0,015). La dislipidemia, sobrepeso, obesidad y obesidad abdominal predominaron en las mujeres. La prevalencia de sobrepeso fue 41,1%, obesidad 25,8% y obesidad abdominal de 37,5%. Se concluyó que la prevalencia de dislipidemia global fue alta y más de la mitad de los trabajadores de la salud presentaron sobrepeso u obesidad, así como la tercera parte tuvieron obesidad abdominal.

Dyslipidemia and obesity are modifiable risk factors of cardiovascular risk. To determine the prevalence of overweight, obesity and dyslipidemia in health care workers. Cross-sectional study was conducted. It carried out a sampling random with affixation proportional. The sample size was 163 health care workers. Body mass index and waist circumference anthropometric technique was evaluated. Considered high total cholesterol > 200 mg/dl, high LDL-C> 100 mg/dl, low HDL-C (men HDL-C<40 mg/dL and women HDL-C<50 mg/dl), and triglycerides≥ 150 md/d. The prevalence of hypercholesterolemia was 30.1%, 40.5% triglycerides, 69.3% low HDL-C, high LDL-C 55.2%, and global dyslipidemia was 87.7%. The median triglycerides (p = 0.034) and LDL-C was higher in males than in females (p=0.038). The dyslipidemia increased as age increased in LDL-C (p=0.015). Dyslipidemia, overweight, obesity and obesity abdominal were higher in workers women. The prevalence of overweight was 41.1%, 25.8% obesity and the obesity abdominal was 37.5%. The prevalence of dyslipidemia global was high and more than half of health workers were overweight or obese and one-third had abdominal obesity.

Síndrome metabólico y colecistitis complicada en mujeres adultas / Metabolic syndrome and complicated cholecystitis in adult women

Objetivo: medir la prevalencia del síndrome metabólico en una muestra de pacientes con colecistitis y analizar su relación con la gravedad de la enfermedad. Materiales y métodos: estudio transversal en pacientes femeninos con colecistitis aguda. Se dividieron en dos; grupo I con pacientes con colecistitis aguda sin otra complicación y grupo II con pacientes con colecistitis aguda con complicaciones como: mucocele, empiema, coledocolitiasis, colangitis, pancreatitis biliar, necrosis y perforación. Se compararon las variables: peso, índice de masa corporal, cintura, presión arterial, niveles de glucosa y lípidos sanguíneos, proporción de pacientes con diabetes mellitus tipo 2, hipertensión arterial, dislipidemia y síndrome metabólico. Resultados: se estudiaron 204 pacientes, se encontraron 80 (39,2%) pacientes con complicaciones. Se identificaron diferencias estadísticamente significativas en las siguientes variables: circunferencia de cintura (98,9 cm vs 103,4 cm; p=0,04), proporción de pacientes con triglicéridos de riesgo (≥150 mg/dL) (41,9% vs 75%; p=0,001), y presencia de síndrome metabólico (46,8% vs 67,5%; p=0,004). Sin embargo, al realizar la regresión logística ajustada solo se encontró que los niveles de triglicéridos (≥150 mg/dL) fungían como factor de riesgo (OR 4,058, IC 95% 1,870-8,807; p=0,000) de padecer complicaciones en colecistitis aguda. Conclusiones: el síndrome metabólico no es considerado un factor de riesgo para complicaciones en colecistitis aguda, sin embargo, si los niveles de triglicéridos son ≥150 mg/dL, el riesgo de padecer complicaciones durante un cuadro agudo de colecistitis litiasica si se aumenta de manera significativa...(AU)

Objective: observe the prevalence of metabolic syndrome in patients with cholecystitis and analyze the relation with its severity. Materials and Methods: cross-sectional study in female patients with acute cholecystitis. Divided into two groups: group I - patients with acute cholecystitis without any other complication and, group II - patients with acute cholecystitis with any complication as: mucocele, empyema, choledocolithiasis, cholangitis, biliary pancreatitis, necrosis and, perforation. Variables measured were:weight, body mass index, waist, blood pressure, blood glucose and lipids levels, type 2 diabetes, arterial hypertension, dyslipidemia, and metabolic syndrome. Results:of 204 patients studied, 80 (39,2%) patients were complicated. There were statistical differences between groups in waist (98,9 cm vs 103,4 cm; p=0,04), patients with risk tryglicerides level (≥150 mg/dL) (41,9% vs 75%; p=0,001), and presence of metabolic syndrome (46,8% vs 67,5%; p=0,004). However, when adjusted logistic regression were realized, just risk tryglicerides level (≥150 mg/dL) were found as real risk factor (OR 4,058, IC 95% 1,870-8,807; p=0,000) for complicated cholecystitis group. Conclusion: neither metabolic syndrome nor waist circumference appear as risk factors for complicated cholecystitis, however, if the patients present tryglicerides level ≥150 mg/dL, the risk for complication increases significantly...(AU)

Dislipidemia mixta severa en población pediátrica: enfoque diagnóstico y terapéutico. A propósito de un caso / Severe mixed dyslipidemia in pediatric population: Diagnosis and treatment. About a case

Objetivo: Dar a conocer una presentación atípica de dislipidemia mixta severa en población pediátrica y su abordaje diagnóstico y terapéutico. Caso Clínico: Escolar femenina de 7 años de edad, quien es referida por presentar suero lactescente, evidenciado al realizarle pruebas de laboratorio. Examen físico: talla, peso e índice de masa corporal en percentil 50, hepatomegalia palpable no dolorosa. Paraclínicos de ingreso: glucemia 114 mg/dl, colesterol: 166 mg/dl y triglicéridos: 1200 mg/ dl. Electroforesis: se evidencia VLDL y quilomicrones. Se hace diagnóstico de hiperlipoproteinemia tipo V, se inicia tratamiento con modificación de estilo de vida y ácidos omega 3, 1500 mg/día. Persisten niveles elevados de triglicéridos y aumenta el colesterol, por lo que se omite el omega 3 y se indica tratamiento con ezetimiba 10 mg y ciprofibrato 50 mg diarios. El estudio genético evidenció una variante intrónica G/C en el intrón 7 para el gen de PPARα, correlacionándose con un riesgo elevado de hipertrigliceridemia y mutación del exón 4 del gen del receptor de LDL, por lo que se modifica el diagnóstico a dislipidemia mixta con elevación de VLDL, quilomicrones y LDL. La evolución actual ha sido satisfactoria. Conclusión: Las hiperlipidemias primarias son un grupo de patologías con frecuencia variables de acuerdo a los diferentes fenotipos presentes. El diagnóstico diferencial es importante para descartar una causa secundaria. La electroforesis y el estudio genético orientan al diagnóstico, y el tratamiento debe ser individualizado dependiendo de la clínica del paciente, los niveles de lípidos plasmáticos y los factores de riesgos asociados.

Objective: To present an atypical presentation of severe mixed dyslipidemia in the pediatric population and its diagnostic and therapeutic approach. Case Report: Female 7-year-old is referred because of presenting lactescent serum, evidenced by laboratory tests. Physical exam: height, weight and body mass index in the 50th percentile, painless palpable hepatomegaly. Initial paraclinical: glucose 114 mg/dl, cholesterol 166 mg/dl and triglycerides 1200 mg/dl. Electrophoresis: evidence of VLDL and chylomicrons. Hyperlipoproteinemia type V diagnosis is made; treatment is initiated with lifestyle modification and omega 3 fatty acids, 1500 mg/day. However, given the persistence of high levels of triglycerides and cholesterol, the omega 3 fatty acids is omitted and treatment with ezetimibe 10 mg and ciprofibrate 50 mg daily, is indicated. Genetic studies revealed an intronic variant G/C in intron 7 for gene PPARα, correlated with a high risk of hypertriglyceridemia, and a mutation of exon 4 of gene LDL receptor; for this reason, the diagnosis is modified to mixed dyslipidemia, with elevated VLDL, LDL and chylomicron. The current evolution has been satisfactory. Conclusions: Primary hyperlipidemia is a group of diseases with variable frequency according to the different phenotypes present. The differential diagnosis is important to exclude a secondary cause. Electrophoresis and genetic study guide the diagnosis. Treatment should be individualized depending on the clinical findings of the patient, plasma lipid levels, and associated risk factors.

Atividade antihiperglicêmica e antioxidante da lectina de bryothamnion seaforthii em ratoscom diabetes induzido por estreptozotocina

Diabetes mellitus (DM) é uma doença crônica, caracterizada por uma desordem metabólica de múltiplas etiologias, que ocorre quando o pâncreas não produz insulina suficiente ou quando o organismo não pode usar de maneira eficaz a que é produzida, ocasionando uma hiperglicemia sistêmica. A causa do diabetes está associada a uma combinação de disfunção das células β-pancreáticas einsulino-resistência, pois a insulina produzida não é capaz de promover adequada captação periférica de glicose. Aproximadamente 7% da população mundial vive com essa doença e 90% destescasossão diabetes tipo 2. O diabetes pode ocorreras sociado à hiperlipidemias que podem gerar aumento dos radicais livres produzidos, provocando um estresse oxidativo, que por sua vez provoca uma disfunção endotelial,gerando as complicações conhecidas do diabetes. Visto a complexidade do DM, são necessários mais estudos para fornecer terapias alternativas para seu tratamento.As lectinas possuem a propriedade peculiar de ligação acarboidratos e papel intrínseco na comunicação celular, apresentando uma variedade de efeitos biológicos, tais como antiinflamatórios, pró-cicatrizantes, anticâncer, antivirale atividade antioxidante.O presente estudo teve como objetivo avaliar a atividade antihiperglicêmicae antioxidante da lectina de Bryothamnion seaforthii(BSL) in vivo, assim também, como seu efeito na redução de lipídios. Para esta avaliação, foi induzido diabetes mellitus tipo 2 em ratos Wistar,utilizando estreptozotocinae nicotinamida...

Diabetes mellitus(DM) is a chronic disease characterized by metabolic disorder of multiple etiologies, which occurs when the pancreas does not produce enough insulin or when the organism cannot effectively use the insulinproduced, causing systemic hyperglycemia. The cause of diabetes is associated with a combination of dysfunction of pancreatic β-cells and insulin resistance, because the insulin produced is not capable of providing adequate peripheral glucose uptake. Approximately 7% of the world population lives with thedisease and 90% of the cases are type 2 diabetes. Diabetes associated with hyperlipidemia may occur and generate increased production of free radicals, causing oxidative stress, which in turn causes endothelial dysfunction. Since the complexity of the DM,more studies are needed to provide alternative therapies for their treatment. Lectins have the peculiar property of binding to carbohydrates anddisplayintrinsic role in cell communication, featuring a variety of biological effects, such as anti-inflammatory, pro-healing, anti-cancer, antiviral and antioxidant activities. This study aimed to evaluate the antihyperglycemic, antilipidemic and antioxidantactivities of the lectinisolated from Bryothamnionseaforthii(BSL)thorough an in vivostudy. For this evaluation, diabetes mellitustype 2 was induced in Wistar rats using streptozotocin and nicotinamide...

Evaluación del potencial hipolipemiante de Cymbopogon citratus S. en un modelo de hiperlipidemia aguda / Evaluation of hypolipidemic potential of Cymbopogon citratus S. in a model of acute hyperlipidemia

Se realizó un estudio farmacológico en el Departamento de Investigaciones Experimentales de la Unidad de Toxicología Experimental Villa Clara, para evaluar el efecto hipolipemiante de la especie Cymbopogon citratus S. (caña santa), en un modelo de hiperlipidemia aguda inducida con poloxamer 407, detergente no iónico. Se emplearon ratones machos C57BL/6J, el extracto fue evaluado en dosis de 400 mg/kg (grupo V) y 600mg/kg (grupo VI). Se formaron seis grupos experimentales: el grupo I correspondió al control negativo, el II al grupo control de hiperlipidemia, el III y IV a grupos controles de sinvastatina y ácido nicotínico y los grupos V y VI a las dosis evaluadas del extracto de Cymbopogon citratus S. Se efectuó la caracterización fitoquímica del extracto hidroalcohólico; además, se evaluaron signos clínicos de toxicidad, la concentración plasmática de colesterol total, triacilglicéridos y lipoproteínas de muy baja densidad. El tamizaje fitoquímico corroboró la presencia de compuestos reductores, alcaloides y taninos, y se observó gran concentración de flavonoides y triterpenos. Las variables colesterol, triacilglicéridos y lipoproteínas de muy baja densidad para los grupos V y VI mostraron diferencias significativas respecto al grupo control de hiperlipidemia (II), y se comportaron de manera similar a los grupos controles de sinvastatina (III) y ácido nicotínico (IV). Se concluye que el extracto de caña santa en las dosis de estudio en el modelo de hiperlipidemia aguda presenta actividad hipolipemiante.

A pharmacological study was conducted at the Department of Experimental Researches of the Experimental Toxicology Unit from Villa Clara, to evaluate the lipid-lowering effect of the species Cymbopogon citrates S. (lemongrass) in a model of acute hyperlipidemia induced by poloxamer 407, non-ionic detergent. C57BL/6J male mice were used; the extract was evaluated in doses of 400mg/kg and 600mg/kg (group V and VI respectively). Six experimental groups were formed: group I corresponded to the negative control, II to control group of hyperlipidemia, III and IV to control groups of sinvastatin and nicotinic acid, as well as, group V and VI corresponded to the evaluated doses of Cymbopogon citratus S extract. Phytochemical characterization of hydroalcoholic extract was done; there were also evaluated clinical signs of toxicity, the plasma concentration of total cholesterol, triacylglycerol (TAG) and very low- density lipoprotein (VLDL). The phytochemical screening confirmed the presence of reducing compounds, alkaloids and tannins, showing great concentration of flavonoids and triterpenes. Cholesterol, TAG and VLDL variables for groups V and VI showed significant differences with respect to control group of hyperlipidemia (II), and behaved similarly to the control groups of sinvastatin (III) and nicotinic acid (IV). As a conclusion, the Cymbopogon citrates S. extract at the doses studied in the model of acute hyperlipidemia presents hypolipidemic activity.

Acurácia da gordura corporal e do perímetro da cintura para predizer alterações metabólicas de risco cardiovascular em adolescentes / Accuracy of body fat and waist circumference in predicting metabolic abnormalities indicating cardiovascular risk in adolescents

Objetivo: Avaliar a acurácia do percentual de gordura corporal (%GC) e do perímetro da cintura (PC) na predição de alterações metabólicas em adolescentes. Sujeitos e métodos: Estudo transversal com amostra probabilística de 573 estudantes de 12 a 19 anos da rede estadual de ensino de Niterói, RJ. Utilizou-se a Receiver Operating Characteristic Curve para avaliar a acurácia do %GC e PC na predição de alterações de pressão arterial, perfil lipídico e glicemia. Resultados: Os melhores pontos de corte do %GC foram 21% para meninos e 23% para as meninas, com sensibilidade (SE) e especificidade (ESP) de aproximadamente 60%. Para o PC, 71 cm para meninos e 66 cm para meninas apresentaram melhor SE (55% a 70%) e ESP (55% a 78%). Conclusão: Mesmo os melhores pontos de corte identificam incorretamente proporções elevadas de adolescentes com alterações metabólicas, sugerindo cautela no uso desses indicadores para triagem de risco cardiovascular nessa faixa etária. .

Objective: To evaluate the performance of percent body fat (%BF) and waist circumference (WC) in predicting metabolic abnormalities indicating cardiovascular risk in adolescents. Subjects and methods: Cross-sectional study with a probabilistic sample of 573 adolescents aged 12 to 19 years from state public schools in Niterói, RJ. The Receiver Operating Characteristic Curve was used to evaluate the accuracy of WC and %BF in predicting alterations in blood pressure, lipid profile, and blood glucose. Results: The best %BF cutoff points were 21% for boys, and 23% for girls, with sensitivity (SE) and specificity (SP) of approximately 60%. The best WC cutoff points were 71 cm for boys, and 66 cm for girls (SE: 55% to 70%; SP: 55% to 78%). Conclusion: Even the best cutoff points misidentified high proportions of adolescents with metabolic abnormalities. Caution is recommended in the use of these indicators for cardiovascular risk screening in this age group. .

Mulheres adultas com acne apresentam maior risco de elevação de triglicerídeos ao uso de isotretinoína oral / Adult women with acne have a higher risk of elevated triglyceride levels with the use of oral isotretinoin

A isotretinoína apresenta restrições relacionadas a efeitos no perfil lipídico. Revisaram-se 90 pacientes tratados, em busca de fatores predisponentes a essas alterações. Houve elevação significativa do colesterol e triglicerídeos. Os pacientes em que estes últimos mostraram essa alteração foram, em sua maioria, do sexo feminino, predileção que não ocorria com as alterações iniciais. Mulheres com acne persistente talvez representem população de risco para tais efeitos colaterais.

There are restrictions associated with the use of isotretinoin because of its effects on the lipid profile. The records of ninety patients treated with this medication were reviewed to identify factors that would predispose patients to these abnormalities. A significant increase in cholesterol and triglyceride levels occurred. Patients in whom triglyceride levels increased were more likely to be female, although this difference was not present at baseline. Women with persistent acne may constitute a risk population for these side effects.