La hipertrigliceridemia como marcador temprano de resistencia a la insulina en obesidad infanto-juvenil / Hypertriglyceridemia as early marker of insulin resistance in children-juvenile obesity

Introducción: la obesidad en infantes y adolescentes constituye un problema de salud pública en aumento. La resistencia a la insulina es una reducción de respuesta fisiológica de los tejidos diana a la acción de la insulina. Objetivo: determinar el valor de la hipertrigliceridemia e hiperglucemia como marcadores tempranos de resistencia a la insulina en niños y adolescentes obesos. Métodos: el estudio fue de enfoque cuantitativo, diseño no experimental, corte transversal, de tipo observacional y correlacional. La población la constituyeron niños y adolescentes con sobrepeso u obesidad, atendidos en la consulta externa del Hospital Dr. Francisco Icaza Bustamante. Resultados: se demostró la utilidad de parámetros bioquímicos como predictores precoces de insulinorresistencia. El 37,4 por ciento presentó hipertrigliceridemia, 19,8 por ciento hiperglucemia y el 51,6 por ciento insulinorresistencia. El promedio más elevado de triglicéridos fue encontrado en el grupo etario de 6 a 10 años, y en el sexo masculino. El análisis estadístico demostró asociación significativa entre hipertrigliceridemia e insulinorresistencia (p< 0,05). Conclusiones: la hipertrigliceridemia tiene valor predictivo de resistencia a la insulina en obesidad infanto-juvenil(AU)

Introduction: obesity in infants and adolescents is a growing public health problem. Insulin resistance is a reduction in the physiological response of target tissues to the action of insulin. Objective: to determine the value of hypertriglyceridemia and hyperglycemia as early markers of insulin resistance in obese children and adolescents. Methods: the study was of a quantitative approach, non-experimental design, cross sectional, observational and correlational type. The population was constituted by children and adolescents who were overweight or obese, and that were attended in the outpatient clinic of Dr. Francisco Icaza Bustamante Hospital. Results: the usefulness of biochemical parameters as early predictors of insulin resistance was demonstrated. 37.4 percent presented hypertriglyceridemia, 19.8 percent hyperglycemia and 51.6 percent insulin resistance. The highest average of triglycerides was found in the age group of 6 to 10 years, and in the male sex. Statistical analysis showed a significant association among hypertriglyceridemia and insulin resistance (p< 0.05). Conclusions: hypertriglyceridemia has a predictive value of insulin resistance in children-juvenile obesity(AU)

Calidad proteica de la dieta en lactantes con desnutrición severa / Protein quality in the diet of infants with severe malnutrition

Introducción: la desnutrición severa infantil constituye un problema vigente en países pobres, porque los requerimientos nutrimentales se proporcionan de manera inadecuada. Las necesidades proteicas relacionadas con la tasa de crecimiento, se reflejan en la cantidad requerida de aminoácidos esenciales; del total de proteínas, la dieta de adultos debe contener 15 por ciento, y la de lactantes entre 33 y 37 por ciento de estos aminoácidos. La calidad proteica se obtiene calculando el escore de aminoácidos, a partir del cual se diseñó el patrón seguro para diferentes grupos de edades, que incluye composición en aminoácidos esenciales, sus proporciones y digestibilidad, y es adecuada cuando estas proporciones satisfacen los requerimientos de nitrógeno para crecimiento, síntesis, y reparación tisular. Objetivos: determinar la calidad proteica de la dieta de lactantes con desnutrición severa, ingresados en el Hospital Francisco Icaza Bustamante de Guayaquil, Ecuador, durante el periodo 2009-2010; y los específicos, diagnosticar el tipo de desnutrición severa de los pacientes, identificar el perfil de aminoácidos en la dieta de los casos de estudio, así como establecer el valor biológico de las proteínas dietéticas que reciben. Métodos: estudio de enfoque cuantitativo, observacional, descriptivo, analítico y de corte transversal, en lactantes con diagnóstico de desnutrición severa. La población incluyó a todos los pacientes con desnutrición severa, menores de 24 meses de edad; la muestra fue de 33 pacientes, basada en criterios de selección. Para evaluar calidad proteica se utilizó el Escore de Aminoácidos Corregido por Digestibilidad Proteica, comparando el perfil dietético con las necesidades del niño(AU)

Introduction: severe childhood malnutrition is a current health problem in poor countries because nutritional requirements are inadequately met. Protein needs related to growth rates are reflected in the volume required of essential amino acids. Of the total proteins, the diet of adults should contain 15 percent and that of infants between 33 and 37 percent of these amino acids. Protein quality was obtained by estimating the score of amino acids, starting from which a safe pattern was designed for different age groups, including the composition as to essential amino acids, their proportions and digestibility. It is considered to be adequate when these proportions meet the nitrogen requirements for growth, synthesis and tissue repair. Objectives: determine the protein quality of the diet of infants with severe malnutrition staying at Francisco Icaza Bustamante hospital in Guayaquil, Ecuador, during the period 2009-2010. Specific objectives are to diagnose the type of severe malnutrition of patients, identify the amino acid profile in the diet of the study cases, and establish the biological value of the diet proteins they receive. Methods: a quantitative cross-sectional analytical descriptive observational study was conducted of infants diagnosed with severe malnutrition. The study population included all the patients with severe malnutrition aged under 24 months. The sample was 33 patients, based on selection criteria. Protein quality was evaluated with the Protein Digestibility Corrected Amino Acid Score, comparing the dietary profile with the needs of the child. Results: statistical analysis showed that all patients had several limiting amino acids in their diet. Conclusions: the diet of infants with severe malnutrition has a poor protein quality, with an amino acid coefficient inadequate for synthesis functions and the consequent negative impact on growth and development(AU)

Calidad proteica de la dieta en lactantes con desnutrición severa / Protein quality in the diet of infants with severe malnutrition

Introducción: la desnutrición severa infantil constituye un problema vigente en países pobres, porque los requerimientos nutrimentales se proporcionan de manera inadecuada. Las necesidades proteicas relacionadas con la tasa de crecimiento, se reflejan en la cantidad requerida de aminoácidos esenciales; del total de proteínas, la dieta de adultos debe contener 15 por ciento, y la de lactantes entre 33 y 37 por ciento de estos aminoácidos. La calidad proteica se obtiene calculando el escore de aminoácidos, a partir del cual se diseñó el patrón seguro para diferentes grupos de edades, que incluye composición en aminoácidos esenciales, sus proporciones y digestibilidad, y es adecuada cuando estas proporciones satisfacen los requerimientos de nitrógeno para crecimiento, síntesis, y reparación tisular. Objetivos: determinar la calidad proteica de la dieta de lactantes con desnutrición severa, ingresados en el Hospital Francisco Icaza Bustamante de Guayaquil, Ecuador, durante el periodo 2009-2010; y los específicos, diagnosticar el tipo de desnutrición severa de los pacientes, identificar el perfil de aminoácidos en la dieta de los casos de estudio, así como establecer el valor biológico de las proteínas dietéticas que reciben. Métodos: estudio de enfoque cuantitativo, observacional, descriptivo, analítico y de corte transversal, en lactantes con diagnóstico de desnutrición severa. La población incluyó a todos los pacientes con desnutrición severa, menores de 24 meses de edad; la muestra fue de 33 pacientes, basada en criterios de selección. Para evaluar calidad proteica se utilizó el Escore de Aminoácidos Corregido por Digestibilidad Proteica, comparando el perfil dietético con las necesidades del niño(AU)

Introduction: severe childhood malnutrition is a current health problem in poor countries because nutritional requirements are inadequately met. Protein needs related to growth rates are reflected in the volume required of essential amino acids. Of the total proteins, the diet of adults should contain 15 percent and that of infants between 33 and 37 percent of these amino acids. Protein quality was obtained by estimating the score of amino acids, starting from which a safe pattern was designed for different age groups, including the composition as to essential amino acids, their proportions and digestibility. It is considered to be adequate when these proportions meet the nitrogen requirements for growth, synthesis and tissue repair. Objectives: determine the protein quality of the diet of infants with severe malnutrition staying at Francisco Icaza Bustamante hospital in Guayaquil, Ecuador, during the period 2009-2010. Specific objectives are to diagnose the type of severe malnutrition of patients, identify the amino acid profile in the diet of the study cases, and establish the biological value of the diet proteins they receive. Methods: a quantitative cross-sectional analytical descriptive observational study was conducted of infants diagnosed with severe malnutrition. The study population included all the patients with severe malnutrition aged under 24 months. The sample was 33 patients, based on selection criteria. Protein quality was evaluated with the Protein Digestibility Corrected Amino Acid Score, comparing the dietary profile with the needs of the child. Results: statistical analysis showed that all patients had several limiting amino acids in their diet. Conclusions: the diet of infants with severe malnutrition has a poor protein quality, with an amino acid coefficient inadequate for synthesis functions and the consequent negative impact on growth and development(AU)

Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations.

Our aim was to analyze the incidence of mutations in BRCA1 and BRCA2 genes in 54 families with breast/ovarian cancer. Families were selected from three Institutions following the standard criteria for hereditary breast/ovarian cancer. PCR amplification of all exons was performed, followed by SSCP, heteroduplex, PTT and sequencing analysis. We identified eight truncation mutations, three in the BRCA1 gene and five in the BRCA2 gene. Three of these mutations have not been reported previously by other groups: 308insA in one family, 3936 C>T in two families, for BRCA1, and 4970insTG in one family for BRCA2. In addition two families having Ashkenazi Jewish ancestors present the well known mutations 185delAG and 6174delT. Interestingly, 5 out of 11 families have mutations recurrent in Spanish families. Among the 54 families selected, seven have breast and ovary cancer cases, and only two presented a mutation in BRCA1 or BRCA2 genes. Other cancers as prostate and stomach are frequent among relatives carrying the mutation. Five cases of very early onset (<31 years old) breast cancer were detected. The frequencies of BRCA1 (0.074) and BRCA2 (0.13) mutations in our families is low but similar to the incidence found in other populations, like in Spain. Since is widely known that risk factors that modulate the development of breast cancer such as lifestyle risk factors, geographic location, country of origin and socioeconomic status, besides a familial history of breast cancer our findings suggest that the history of colonization and immigrations is very relevant when studying hereditary factors associated to breast cancer.

[Haplotype of the BRCA2 6857delAA mutation in 4 families with breast/ovarian cancer]. / Análisis del haplotipo en portadores de la mutación 6857delAA en el gen BRCA2 en 4 familias con cáncer de mama u ovario hereditario.

BACKGROUND AND OBJECTIVE: It is estimated that 5-10% of all breast cancers are hereditary, mainly are due to germline mutations in the BRCA1 and BRCA2 genes. PATIENTS AND METHOD: A BRCA2 screening was carried out in familial breast/ovarian cancer at two centres in Spain and Chile. The 6857delAA mutation was identified in 3 Spanish families and one Chilean, all of them with Spanish ancestors. The BRCA2 haplotype of the 6857delAA carriers was analyzed using five microsatellite markers flanking the BRCA2 gene, spanning a region of 6 cM: cen-D13S260, D13S1698, (BRCA2), D13S171, D13S310 and D13S267-tel. RESULTS: Two families shared the allelic variants of the 5 microsatellites studied. Markers D13S260 and D13S267 differed in one allele in two families, respectively. The defined haplotype was absent in non-carriers from these families, and was not detected in 100 control chromosomes without the mutation. CONCLUSIONS: Our results suggest the existence of a common ancestry with the mutation originating in the Northeast of Spain. Given the migratory movements from Spain to Latin America, the screening of recurrent Spanish mutations can be useful in establishing a more rational and cost-effective analysis in such populations.