Personalized Nutrition and Cardiovascular Disease Prevention: From Framingham to PREDIMED

Diet is considered the cornerstone for the prevention of age-related diseases, and a low-fat diet has been considered for decades as the most suitable alternative to achieve this goal. However, mounting evidence supports the efficacy of other alternatives, such as the Mediterranean diet. Nevertheless, it is well known that people present a dramatic range of responses to similar environmental challenges, and it has been shown that some of this variability is rooted in the genome. In fact, this knowledge is driving the field of nutrigenetics. The finding of interactions between diet and genetic variants has led to intense research and debate about the effectiveness of personalized nutrition as a more suitable tool for the prevention of chronic diseases than the traditional 1-size-fits-all recommendations. Here, we provide some of our own examples that illustrate the progression of nutrigenetics through the years, from the initial studies within the Framingham Heart Study, to the most recent use of large consortia, such as the Cohorts for Heart and Aging Research in Genomic Epidemiology, and ending up with large dietary intervention studies, such as the PREDIMED (Prevención con Dieta Mediterránea) study. These recent approaches are providing more robust and clinically relevant gene–diet interactions. Therefore, although the current evidence level of applying genomic information to tailoring is at its early stages, the prospect of widespread incorporation of nutrigenetics to the clinical practice is encouraging.     

Sexuality among Spanish adults with diabetes: A population-based case control study

ObjectivesTo describe and compare sexuality between subjects with diabetes with matched non-diabetic controls.MethodsPopulation based case control study using individual data from the Spanish National Sexual Health Survey. Diabetes status was self reported, we selected type 2 patients. We identified 461 diabetes sufferers. Two controls were matched by age, sex and sexual partner for each diabetic case.Sexuality measures included: sexual activity, importance of sex, satisfaction with partner, bothersome with one's sexual life and self-rated sexual health. Independent variables included: socio-demographics, physical health, chronic diseases and medications use.ResultsNo differences were found in “Sexually activity”, “Importance of sex” or “Bothersome” between those with and without diabetes. Dissatisfaction with partner was 25% in women with diabetes and 12.9% in non-diabetic controls (Adjusted-OR 1.82 95%CI 1.02–4.85).Diabetes sufferers reported sexual health as “fair/poor/very poor” more than their non-diabetic control, 58.1% vs. 45.1% for women (Adjusted-OR 1.74 95%CI 1.15–2.63) and 54.3% vs. 38% for men (Adjusted-OR 1.88 95%CI 1.29–2.75).Among diabetes sufferers “fair/poor/very poor” sexual health was associated with poorer physical health, not having a sexual partner and among men taking heart medications.ConclusionsWomen and men with diabetes have significantly worse sexuality measures than non diabetic controls.     

Effects of Education on the Quality of Life,Diet, and Cardiovascular Risk Factors in an Elderly Spanish Community Population

An inverse relation between education and health has been reported, suggesting the importance of examining the underlying mechanism of this association. We examined whether cardiovascular risk factors, diet, and indicators of quality of life (mood, self-perceived health, social relationships, self-rated sensory, and dental adequacy) vary according to educational level among 352 old people (65–95 years old) in the city of Oviedo (Northern Spain). Lower educational level (LE) was associated with unhappiness, poor social relationships, poor self-assessed health, and sensory, and masticatory problems. LE elderly consumed less vegetables and meat products and more carbohydrates. LE women had a lower contribution of proteins and lipids to their total energy intake as well as a lower vitamin A intake. Except for hypercholesterolemia, no differences     

Has the time come to leave the "watch-and-wait" strategy in newly diagnosed asymptomatic follicular lymphoma patients?

ABSTRACT: BACKGROUND: Historically, the median overall survival for follicular lymphoma (FL) has been considered to be 9-10 years, and no treatment had ever prolonged this time period. Studies conducted more than 20 years ago demonstrated that treating patients with asymptomatic FL at the onset of the disease did not increase their survival, and that almost 20% of these patients did not need any treatment in the first 10 years of follow-up. Based on these facts, most clinical practice guidelines recommend active surveillance policies for patients with asymptomatic FL. DISCUSSION: The introduction of antiCD-20 monoclonal antibodies, over the last 15 years, has significantly increased the median survival rate to above 14 years. This improvement was achieved before the combination of rituximab and chemotherapy regimens became extensively used in patients with symptomatic disease. Therefore, this increase in survival may currently be more significant. At present, several clinical trials have evaluated low-toxicity therapies that prolong progression-free periods, among which rituximab monotherapy, radioimmunotherapy or the combination of rituximab with bendamustine are the most relevant. Unfortunately, these clinical trials have included only patients with symptomatic FL. The results of a recently reported clinical trial show that treatment with single-agent rituximab prolongs progression-free survival rates, time to new treatment and the quality of life of asymptomatic patients, as compared with the active surveillance strategy. Longer follow-up of these results and data regarding overall survival are awaited before this treatment can be recommended as the standard initial therapy. SUMMARY: There are different therapeutic possibilities for asymptomatic FL patients, but no data are currently available to indicate which option is the best. Patients need to understand the risks and benefits of observation versus treatment before a final decision can be made. For patients who want active treatment the administration of four weekly rituximab doses should be considered.     

Impact of physician specialty on the cost of nonvariceal upper GI bleeding care

OBJECTIVE: Upper GI bleeding (UGIB) is a common medical emergency that leads to a high consumption of medical resources and costs. We aimed to analyze the influence of physician specialty on the costs of nonvariceal UGIB care. METHODS: We retrospectively assessed 350 nonvariceal UGIB episodes that were primarily cared for by gastroenterologists (n = 142), internists (n = 67), or surgeons (n = 141). Gastroenterologists followed evidence-based clinical protocols that included early endoscopy and early hospital discharge for uncomplicated bleeding. A risk score system was used to control for severity of illness. Linear regression analyses were performed to find out predictors of costs and the influence of specialist care on length of stay (LOS). RESULTS: The overall mean hospital cost was significantly lower in patients cared for by gastroenterologists (EUR 1,630) than in those managed by internists (EUR 3,745, p < 0.001) or surgeons (EUR 2,513, p < 0.05). The mean LOS was the variable with highest influence on total cost. Patients cared for by gastroenterologists had a mean LOS significantly shorter (7.3 days) than that of those treated by internists (16.2 days, p < 0.001) or surgeons (11 days, p < 0.001). Hospital costs and LOS differences were maintained when adjusting for severity of illness. In caring for low risk patients, nongastroenterologists had a higher probability of having a hospital stay longer than 4 days (odds ratio = 18.4, Cl = 4.6-73.6, p < 0.001). CONCLUSION: The implementation of specific evidence-based protocols by gastroenterologists reduces length of hospital stay and saves medical costs in patients with nonvariceal UGIB, especially those at low risk.     

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain

Fanconi anemia (FA) is a genetic disease characterized by bone marrow failure and cancer predisposition. Here we have identified Spanish Gypsies as the ethnic group with the world's highest prevalence of FA (carrier frequency of 1/64-1/70). DNA sequencing of the FANCA gene in 8 unrelated Spanish Gypsy FA families after retroviral subtyping revealed a homozygous FANCA mutation (295C>T) leading to FANCA truncation and FA pathway disruption. This mutation appeared specific for Spanish Gypsies as it is not found in other Gypsy patients with FA from Hungary, Germany, Slovakia, and Ireland. Haplotype analysis showed that Spanish Gypsy patients all share the same haplotype. Our data thus suggest that the high incidence of FA among Spanish Gypsies is due to an ancestral founder mutation in FANCA that originated in Spain less than 600 years ago. The high carrier frequency makes the Spanish Gypsies a population model to study FA heterozygote mutations in cancer.