The Chilean-MDI can be successfully self-applied to portray the overall diet quality in the Chilean adult population. Additionally, this dietary index describes overall food intake in Chilean adults, showing demographic trends that are comparable to those obtained with similar indexes applied in other populations.
BackgroundSevere 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.MethodsWe 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.ResultsA 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.ConclusionThe 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.
Eggs are a highly nutritive food. They contain high quality protein and several nutrients with potential health benefi ts. Nevertheless, the appearance of cardiovascular disease as an important public health issue, with high morbidity and mortality rates worldwide, along with the identifi cation of high blood cholesterol levels as a risk factor for this disease, was responsible for the advice to limit dietary cholesterol (and, therefore, eggs) that was promoted by health care professionals and institutions during the 70s. To date, several cohort studies show that the intake of one egg a day does not increase cardiovascular risk in the general population. However, this evidence is not clear among diabetic patients, and raises the question whether its consumption in large quantities is entirely safe in this particular population. Additionally, intervention studies have shown that egg consumption does not adversely affect cardiovascular risk factors neither in healthy individuals nor in those with cardiometabolic disease. Moreover, these studies suggest that the incorporation of egg to the diet could bring additional benefits such as promoting a less atherogenic lipid profile.
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.
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