Discursos pronunciados en el acto de investidura de Doctor "Honoris Causa" del Excelentísimo Señor D. Ricardo Uauy Dagach

Discurso presentado por Ángel Gil Hernánde

Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia

Lecithin-cholesterol acyltransferase (LCAT) is a plasma enzyme that esterifies cholesterol in high- and low-density lipoproteins (HDL and LDL). Mutations in LCAT gene causes familial LCAT deficiency, which is characterized by very low plasma HDL-cholesterol levels (Hypoalphalipoproteinemia), corneal opacity and anemia, among other lipid-related traits. Our aim is to evaluate clinical/biochemical features of a Chilean family with a proband showing clinical signs of familial LCAT deficiency, as well as to identify and assess the functional effects of LCAT mutations. LCAT sequencing identified rare p.V333 M and p.M404 V missense mutations in compound heterozygous state in the proband, as well the common synonymous p.L363 L variant. LCAT protein was detected in proband’s plasma, but with undetectable enzyme activity compared to control relatives. HEK-293 T transfected cells with vector expression plasmids containing either p.M404 V or p.V333 M cDNA showed detectable LCAT protein expression both in supernatants and lysates from cultured cells, but with much lower enzyme activity compared to cells transfected with the wild-type sequence. Bioinformatic analyses also supported a causal role of such rare variations in LCAT lack of function. Additionally, the proband carried the minor allele of the synonymous p.L363 L variant. However, this variant is unlikely to affect the clinical phenotype of the proband given its relatively high frequency in the Chilean population (4%) and its small putative effect on plasma HDL-cholesterol levels. Conclusion: Genetic, biochemical, in vitro and in silico analyses indicate that the rare mutations p.M404 V and p. V333 M in LCAT gene lead to suppression of LCAT enzyme activity and cause clinical features of familial LCAT deficiency.This work was supported by Proyecto FONDECYT 1150416 and Proyecto Interdisciplina VRI-PUC II15024 from the Dirección de Investigación, Pontificia Universidad Católica de Chile. Genotyping of GOCS was performed in the in the Human Genotyping laboratory at the Spanish National Cancer Research Centre, a member of CeGen (PRB2-ISCIII), and was supported by grant PT13/ 0001/0005 of PE I + D + i 2013-2016 funded by ISCIII and ERDF (Fondo Europeo de Desarrollo Regional). This research was partially supported by the supercomputing infrastructure of the NLHPC (ECM-02). L.V. and C.B. were supported by VRI, Pontificia Universidad Católica de Chile (Proyecto Investigación Interdisciplinaria VRI-PUC II15024). TG was supported by “Beca de Magíster Nacional” CONICYT. L.V. was additionally supported by FONDECYT postdoctoral grant 3170038. We express our gratitude to the proband and relatives

The Use of Multivitamin/Multimineral Supplements:A Modified Delphi Consensus Panel Report

PURPOSE: Evidence supporting the use of dietary supplements, in particular, multivitamin/multimineral supplements (MVMS), has been mixed, complicating the ability of health care professionals to recommend their use. To clarify the role that MVMS can play in supporting human health, a series of consensus statements was developed based on expert opinion. METHODS: A panel of 14 international experts in nutritional science and health care was convened to develop consensus statements related to using MVMS in supporting optimal human health. The modified Delphi process included 2 rounds of remote voting and a final round of voting at a roundtable meeting where evidence summaries were presented and discussed. The level of agreement with each of 9 statements was rated on a 5-point Likert scale: agree strongly; agree with reservation; undecided; disagree; or disagree strongly. Consensus was predefined as ≥80% of the panel agreeing strongly or agreeing with reservation to a given statement. FINDINGS: Consensus was reached for all statements. The panel determined that MVMS can broadly improve micronutrient intakes when they contain at least the micronutrients that are consumed insufficiently or have limited bioavailability within a specified population. MVMS formulations may also be individualized according to age, sex, life cycle, and/or other selected characteristics. There are specific biological processes and health outcomes associated with deficient, inadequate, and adequate micronutrient levels. Adequate intake is necessary for normal biological functioning required for good health; in some instances, higher than recommended micronutrient intakes have the potential to provide additional health benefits. Meeting daily intakes established by dietary reference values should be an explicit public health goal for individuals and populations. Use of MVMS is one approach to ensure that adequate micronutrient needs are met in support of biological functions necessary to maintain health. Long-term use of MVMS not exceeding the upper limit of recommended intakes has been determined to be safe in healthy adults. There is insufficient evidence to indicate that MVMS are effective for the primary prevention of chronic medical conditions, including cardiovascular disease and cancer. However, for certain otherwise healthy subpopulations (eg, pregnant women, older adults) and some individuals with existing medical conditions who experience inadequacies in micronutrient intake, addressing inadequacies by using MVMS can provide health benefits. IMPLICATIONS: This consensus panel has described key issues related to the use of MVMS among individuals at risk of or presenting with inadequacies in micronutrient intake or biomarker status

Enfermedades crónicas

Adherencia al tratamiento farmacológico y relación con el control metabólico en pacientes con DM2Aluminio en pacientes con terapia de reemplazo renal crónico con hemodiálisis en Bogotá, ColombiaAmputación de extremidades inferiores: ¿están aumentando las tasas?Consumo de edulcorantes artificiales en jóvenes universitariosCómo crecen niños normales de 2 años que son sobrepeso a los 7 añosDiagnóstico con enfoque territorial de salud cardiovascular en la Región MetropolitanaEfecto a corto plazo de una intervención con ejercicio físico, en niños con sobrepesoEfectos de la cirugía bariátrica en pacientes con síndrome metabólico e IMC < 35 KG/M2Encuesta mundial de tabaquismo en estudiantes de profesiones de saludEnfermedades crónicas no transmisibles: Consecuencias sociales-sanitarias de comunidades rurales en ChileEpidemiología de las muertes hospitalarias por patologías relacionadas a muerte encefálica, Chile 2003-2007Estado nutricional y conductas alimentarias en adolescentes de 4º medio de la Región de CoquimboEstudio de calidad de vida en una muestra del plan piloto para hepatitis CEvaluación del proceso asistencial y de resultados de salud del GES de diabetes mellitus 2Factores de riesgo cardiovascular en población universitaria de la Facsal, universidad de TarapacáImplicancias psicosociales en la génesis, evolución y tratamiento de pacientes con hipertensión arterial esencialInfarto agudo al miocardio (IAM): Realidad en el Hospital de Puerto Natales, 2009-2010Introducción de nuevas TIC y mejoría de la asistencia a un programa de saludNiños obesos atendidos en el Cesfam de Puerto Natales y su entorno familiarPerfil de la mortalidad por cáncer de cuello uterino en Río de JaneiroPerfil del paciente primo-consultante del Programa de Salud Cardiovascular, Consultorio Cordillera Andina, Los AndesPrevalencia de automedicación en mujeres beneficiarias del Hospital Comunitario de Til-TiPrevalencia de caries en población preescolar y su relación con malnutrición por excesoPrevalencia de retinopatía diabética en comunas dependientes del Servicio de Salud Metropolitano Occidente (SSMOC)Problemas de adherencia farmacológica antihipertensiva en población mapuche: Un estudio cualitativoRol biológico de los antioxidantes innatos en pacientes portadores de VIH/SidaSobrepeso en empleados de un restaurante de una universidad pública del estado de São Paul

Keynote: Rethinking protein

Artículo de publicación IS

Copper as an essential nutrient

Animal and human studies have shown that copper is involved in the function of several enzymes. Studies have also shown that copper is required for infant growth, host defense mechanisms, bone strength, red and white cell maturation, iron transport, cholesterol and glucose metabolism, myocardial contractility, and brain development. Copper deficiency can result in the expression of an inherited defect such as Menkes syndrome or in an acquired condition. Acquired deficiency is mainly a pathology of infants; however, it has been diagnosed also in children and adults. Most cases of copper deficiency have been described in malnourished children. The most constant clinical manifestations of acquired copper deficiency are anemia, neutropenia, and bone abnormalities. Other, less frequent manifestations are hypopigmentation of the hair, hypotonia, impaired growth, increased incidence of infections, alterations of phagocytic capacity of the neutrophils, abnormalities of cholesterol and glucos

Recommendations for cancer prevention of World Cancer Research Fund (WCRF): situational analysis for Chile

Artículo de publicación ISIThe main diet-related cancers include colorectal, lung, breast in (postmenopausal) women, stomach, esophagus, prostate and pancreas. After tobacco, obesity is the leading cause of cancer; it accounts for one third of all cancers. Cancer is associated with high total body fat, abdominal fat and weight gain in adult life. These are all potentially modifiable risk factors. Consumption of a “healthy diet” and living an “active life” can significantly reduce the risk of cancer. The aim of this study was to analyze the recommendations published by the World Cancer Research Fund (WCRF) and American Institute for Cancer Research (AICR) for the prevention of cancer in 2007. We compared the recommendations of “Food, Nutrition and Physical Activity and the Prevention of Cancer: a global perspective”, with the national situation in Chile, analyzing the national report on the prevalence of risk factors. Our main finding was that the pattern of consumption and lifestyles differ markedly from the WCRF recommendations: we observed an over consumption of sugary drinks and high intake of processed foods high in sodium and total fat and low consumption of legumes, vegetables, fruits high in antioxidants and fiber that protect from cancer. Chile has an increased cancer prevalence which is associated with poor quality diets, rising mean body mass index and a sedentary behavior. We recommend the strengthening programs to promote healthy diets and active living, in order to reduce cancer risk

Mineral balance during nutritional recuperation of infants with protein deficiency Balance de minerales durante la recuperación nutricional en lactantes con desnutrición energético-proteica.

Mineral requirements of normal infants change according to growth velocity. They are directly associated to needs for obtaining an adequate composition of new tissue, assure an optimal bone mineralization and for maintaining normal plasma mineral levels. Nutritional rehabilitation of malnourished infants determines increased mineral requirements, which may be not satisfied with usual infant formulas. We studied mineral retention (Ca, P, Mg, Zn and Cu) during nutritional recovery of 9 malnourished male infants (age: 2-7 mo; weight/age < 70%), fed two formulas, both with 85 Kcal/dL (356 KJoule/dL): the first based on whole cow's milk (LP) and the second on a modified cow's milk containing mineral recommendations for normal infants (LPM); balances were compared to normal for age and for length. Infants received each formula for 6 days, with the last 3 days on a metabolic balance Ca, Mg, and P showed high intakes and very low urinary excretions, calcium retention (68.5 +/- 22.7 and 61.4 +

Treatment and prevention of malnutrition in Latin America: Focus on Chile and Bolivia

© 2014, The Nevin Scrimshaw International Nutrition Foundation. Seven million children under 5 years of age died worldwide in 2011, and one-third had malnutrition. Latin America and Caribbean countries stand out for the notable improvement of their health and nutrition situation, particularly in pregnant women and young children. Nutrition-sensitive interventions such as promoting food security, women's empowerment, social safety nets, clean water, and sanitation, among others, are critical for success. In Bolivia, the program Desnutrición Cero (Malnutrition Zero) was able to reduce mortality from severe malnutrition after 5 years from 25% to less than 5%, based on widespread implementation of the World Health Organization 10-steps protocol for hospitalized care and the application of community management. The Economic Commission for Latin America estimated the cost of malnutrition for Costa Rica, El Salvador, Guatemala, Honduras, Nicaragua, Panama, and the Dominican Republic as US$6,