Mediterranean Diet beyond the Mediterranean Basin: Chronic Disease Prevention and Treatment

The Mediterranean diet (MedDiet) is considered one of the healthiest dietary patterns. Current scientific evidence supports that this dietary pattern is associated with lower prevalence and incidence of a number of chronic diseases, such as cardiovascular disease, diabetes, cancer, and age-related cognitive decline as well as reduced overall mortality. The Mediterranean diet includes a wide variety of foods that are eaten in moderation and enjoyed in a positive social environment. It is characterized by a high intake of fruits and vegetables, whole grains, legumes, nuts, fish and seafood, white meats, olive oil, herbs, and spices paired with moderate consumption of fermented dairy products and wine and low intake of red meat, butter, and sugar. The generic term “Mediterranean diet” was coined in the Seven Countries Study led by Ancel Keys in the 1950s. Yet, in spite of its name, this dietary pattern and its benefits are not confined exclusively to the Mediterranean Basin. Among other world regions, Central Chile exhibits climate, agriculture, and culinary traditions similar to various Mediterranean countries. It is therefore essential to increase awareness about the Mediterranean-like richness of both produce and culinary culture beyond the Mediterranean Basin. Active promotion of this dietary pattern may offer health benefits and improve the quality of life in many populations worldwide

APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family

BACKGROUND: Severe hypertriglyceridemia (HTG) has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high triglyceride plasma levels (>112 mmol/L at diagnosis) were found in two sisters of a Chilean consanguineous family, which is strongly suggestive of a recessive highly penetrant mutation. The aim of this study was to determine the genetic locus responsible for the severe HTG in this family. METHODS: We carried out a genome-wide linkage study with nearly 300,000 biallelic markers (Illumina Human CytoSNP-12 panel). Using the homozygosity mapping strategy, we searched for chromosome regions with excess of homozygous genotypes in the affected cases compared to non-affected relatives. RESULTS: A large homozygous segment was found in the long arm of chromosome 11, with more than 2,500 consecutive homozygous SNP shared by the proband with her affected sister, and containing the APOA5/A4/C3/A1 cluster. Direct sequencing of the APOA5 gene revealed a known homozygous nonsense Q97X mutation (p.Gln97Ter) found in both affected sisters but not in non-affected relatives nor in a sample of unrelated controls. CONCLUSION: The Q97X mutation of the APOA5 gene in homozygous status is responsible for the severe hypertriglyceridemia in this family. We have shown that homozygosity mapping correctly pinpointed the genomic region containing the gene responsible for severe hypertriglyceridemia in this consanguineous Chilean famil

Subdiagnóstico de depresión en atención primaria, en pacientes del área sur-oriente de Santiago, 2006

Depression is highly prevalent in Chile. However, many patients are not detected by primary healthcare physicians (PHCP). The purpose of the present study is to analyze the consistency between the diagnosis of depression performed by PHCP, and diagnosis resulting from a structured clinical interview based on DSM-IV criteria (Diagnostic and Statistical Manual for Mental Disorders, IVth Edition) for depression, taking place at a secondary healthcare center (SHCC).A total of 174 patients were studied (mean age 57.6 15.1 years, 131 female), referred for various pathologies different from depression to one SHCC, and who had been assessed during the last month by a PHCP. All patients were assessed with the Goldberg's Anxiety and Depression Scale (GADS) and the probable cases determined to be so by the instrument used (a score 3 in depression scale subset) underwent a structured clinical interview based on the DSM-IV criteria for depression.Thirty three patients had a diagnosis of depression made by the PHCP. However, 103 (59.2%) had scores 3 in the GADS and 59, (33.9%) met the DSM-IV criteria for depression. The consistency between the diagnosis made by a PHCP and that made through the DSM-IV diagnostic criteria, assessed through Kappa index, was 0.39 (weakly consistent), with a positive consistency only in 25 cases.A low consistency was observed between the diagnosis of depression made by PHCP and the diagnosis reached through a structured clinical interview, with underdiagnosis being as relevant as nearly 60%. Additionally, the use of a screening test allowed the identification of cases not diagnosed previously.La depresión es altamente prevalente en Chile, sin embargo, muchos pacientes no son pesquisados por los médicos de atención primaria (MAP). El objetivo de esta estudio es analizar la concordancia entre el diagnóstico de depresión hecho por MAP, respecto a una entrevista clínica estructurada basada en criterios DSM-IV (Manual Diagnóstico y Estadístico de los Trastornos Mentales) para depresión, realizada en un centro de atención secundaria (CAS). Se estudiaron 174 pacientes (edad 57.6 15.1 años, 131 mujeres), derivados por diversas patologías distintas a la depresión, a un CAS, atendidos durante el último mes por MAP. Todos los pacientes fueron evaluados con la escala de ansiedad y depresión de Goldberg (E.A.D.G) y a los "probables casos" según el instrumento (puntaje 3, subescala depresión) se les realizó una entrevista clínica estructurada basada en criterios DSM-IV para depresión. Treinta y tres pacientes tenían diagnóstico de depresión hecho por MAP. Sin embargo, 103 pacientes (59.2%) tuvieron puntajes 3 en la E.A.D.G y 59 (33.9%) cumplieron criterios DSM-IV para depresión. La concordancia entre el diagnóstico de depresión hecho por MAP, respecto al diagnóstico según criterios DSM-IV, mediante el índice Kappa, fue 0.39 (acuerdo débil), existiendo coincidencia positiva sólo en 25 casos. Se observó baja concordancia entre el diagnóstico de depresión hecho por MAP y el realizado a través de una entrevista clínica estructurada, con importante subdiagnóstico, cercano al 60%. En forma adicional, la aplicación de un test de tamizaje, fue de utilidad para detectar casos previamente no diagnosticados

APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family

Abstract Background Severe hypertriglyceridemia (HTG) has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high triglyceride plasma levels (>112 mmol/L at diagnosis) were found in two sisters of a Chilean consanguineous family, which is strongly suggestive of a recessive highly penetrant mutation. The aim of this study was to determine the genetic locus responsible for the severe HTG in this family. Methods We carried out a genome-wide linkage study with nearly 300,000 biallelic markers (Illumina Human CytoSNP-12 panel). Using the homozygosity mapping strategy, we searched for chromosome regions with excess of homozygous genotypes in the affected cases compared to non-affected relatives. Results A large homozygous segment was found in the long arm of chromosome 11, with more than 2,500 consecutive homozygous SNP shared by the proband with her affected sister, and containing the APOA5/A4/C3/A1 cluster. Direct sequencing of the APOA5 gene revealed a known homozygous nonsense Q97X mutation (p.Gln97Ter) found in both affected sisters but not in non-affected relatives nor in a sample of unrelated controls. Conclusion The Q97X mutation of the APOA5 gene in homozygous status is responsible for the severe hypertriglyceridemia in this family. We have shown that homozygosity mapping correctly pinpointed the genomic region containing the gene responsible for severe hypertriglyceridemia in this consanguineous Chilean family.</p