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BACKGROUND: The genetic substrate of severe hypertriglyceridemia (sHTG) in Latin America is insufficiently understood. OBJECTIVE: To identify genetic variants in genes related to triglyceride (TG) metabolism among adults with sHTG from Colombia. METHODS: In individuals with plasma TG≥880 mg/dL at least once in their lifetime, we amplified and sequenced all exons and intron/exon boundaries of the genes LPL, APOC2, APOA5, GPIHBP1 and LMF1. For each variant we ascertained its location, zygosity, allelic frequency and pathogenicity classification according to American College of Medical Genetics (ACMG) criteria. RESULTS: The study included 166 participants (62 % male, mean age 50), peak TG levels ranged between 894 and 11,000 mg/dL. We identified 92 variants: 19 in LPL, 7 in APOC2, 11 in GPIHBP1, 38 in LMF1, and 17 in APOA5. Eighteen of these variants had not been reported. We identified a new pathogenic variant in LMF1 (c.41C>A; p.Ser14*), a new likely pathogenic variant in LMF1 (c.1527 C > T; p.Pro509=, also expressed as c.1447C>T; p.Gln483*), and a known pathogenic variant in LMF1 (c.779G>A; p.Trp260*). Four participants were heterozygous for variant c.953A>G; p.Asn318Ser in LPL, a known risk factor for hypertriglyceridemia. Participants with variants of unknown significance (VUS) in LMF1 had significantly higher peak TG than those with VUS in other genes. Peak TG were 4317 mg/dL in participants with a history of pancreatitis, and 1769 mg/dL in those without it (p = 0.001). CONCLUSION: Our study identified variants associated with sHTG among Latinos, and showed that genetic variation in LMF1 may be frequently associated with sHTG in this population.
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In the elderly, the coexistence of type 2 diabetes mellitus (T2DM) and frailty is frequent. Much has been described about pharmacological management and glycemic control goals. However, there is a knowledge gap in terms of the objectives and characteristics of interventions, especially nutritional ones, for this population. A scoping review was performed to document the objectives, characteristics, and results of nutritional interventions in older people with T2DM and frailty. The five-stage framework of Arksey and O'Malley was used, as was the PRISMA extension for scoping reviews. The results stand out for three trends, as follows: (1) experimental studies with multicomponent intervention physical exercise programs and nutritional programs based on educational processes or behavioral intervention; (2) observational studies with an association of the kind of diet assessed by scales and their relation to stages of frailty; (3) a review that updates recommendations on pharmacological and non-pharmacological, diet, exercise, management, as well as glucose control goals for diabetes in frail older persons. Finally, the evidence shows that management of T2DM in older adults with frailty requires goals and interventions tailored to their functional capacity and health condition. The exercise, diet, and education programs reviewed have demonstrated their effectiveness in improving physical performance, reducing the risk of frailty or progression to more advanced stages, and achieving better glycemic control.
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INTRODUCTION: Type 2 diabetes is a prevalent condition. The change in glucose control and body weight with the use of once-weekly semaglutide was evaluated in individuals with Type 2 diabetes in Colombia. METHODS: This was a real-world, multi-centre, single-arm study involving adults in Colombia with Type 2 diabetes treated with once-weekly subcutaneous semaglutide for approximately 26 weeks. The primary endpoint assessed the change in glycated hemoglobin (HbA1c) from baseline to end of study. Secondary endpoints included changes in body weight from baseline to end of study. The study also explored the proportion of participants achieving predefined HbA1c targets and weight-loss responses at the end of the study. RESULTS: Data from 225 patients across 11 centers were collected. Most patients were women (65%), and the mean age of the population was 57 years with a median HbA1c of 7.6% and a median body weight of 86 kg. After approximately 26 weeks, semaglutide was associated with a significant reduction in HbA1c of - 0.88 and a body weight reduction of - 4.04kg. The proportion of patients with HbA1c < 7% increased from 32 to 66% at end of study. CONCLUSION: Patients treated with once-weekly semaglutide experienced a clinically significant reduction in HbA1c and body weight. These results are in line with previous clinical trials.
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INTRODUCTION: The latest American College of Cardiology and American Heart Association (ACC/AHA) Guidelines for high blood pressure in adults bring changes with lower cut-off points, creating socioeconomic issues in low and middle income countries. It is necessary to consider the changes that would have the adherence to these new guidelines in diagnosis and hypertension (HTN) control with ambulatory blood pressure monitoring (ABPM), the gold standard for hypertension diagnosis. AIM: To describe the changes in hypertension diagnosis and control according to the latest ACC/AHA guidelines, the European Society of Cardiology and European Society of Hypertension (ESC/ESH) and Latin-America Society of Hypertension (LASH) guidelines. METHODS: Cross-sectional, descriptive, retrospective study of all patients who have had an ABPM during June 2017 and June 2018 according to cut-off points established by the ACC/AHA Guidelines compared to the ESC/LASH Guidelines. RESULTS: 1957 patients evaluated with ABPM were included; median age was 57 years, 55% were female. The difference in diagnosis by 24-h ABPM, day-time, and night-time cycle was 21%, 42%, and 24% higher applying ACC/AHA guidelines vs ESC/ESH guidelines. There were no significant differences regarding the history of HTN, gender, and age in the circadian pattern. CONCLUSION: If the measured value of blood pressure in the 24-h ABPM is taken into account, it would necessary to intervene pharmacologically 21.5% more individuals according to the ACC/AHA guidelines in our population, Individualization is awarded.