Familial hypercholesterolemia (FH) is an autosomal dominant disorder mostly caused by mutations in the LDLR gene. Although the detection of functional mutations in the LDLR gene provides an unequivocal diagnosis of the FH condition, there are many variants whose pathogenicity is still unknown. The aims of this study were to set up a rapid method to determine the effect of LDLR mutations, thereby providing an accurate diagnosis of FH, and to functionally characterize six LDLR mutations detected at high frequency by the LIPOchip(®) platform (Progenika Biopharma, Spain) in the Spanish population. LDLR expression and activity were analyzed by one-single-step flow cytometry assay and confocal microscopy. Splicing effects were determined by sequencing reverse transcription polymerase chain reaction products. The analysis of three heterozygous variants with a single point mutation within the low-density lipoprotein binding domain allowed us to classify the c.806G>A variant as nonpathogenic, and c.862G>A and c.895G>A variants as causative of FH. The results obtained for three variants affecting donor splice sites of the LDLR mRNA, c.313+2dupT, c.1186+5G>A, and c.1845+1G>C, demonstrated that these mutations are pathogenic. These results expand our knowledge of mutations responsible for FH, providing an accurate diagnosis and leading to early treatment to reduce the risk of premature cardiovascular events.

Objetivo: el objetivo de este estudio fue evaluar la prevalencia de hipovitaminosis D en los candidatos a cirugía bariátrica (CB) y su relación con factores de riesgo y los componentes del síndrome metabólico. Material y métodos: los parámetros clínicos, antropométricos y bioquímicos se midieron en 56 pacientes caucásicos incluidos en un protocolo de cirugía bariátrica entre enero y junio de 2014. Los pacientes fueron estratificados en tres grupos de acuerdo al status de vitamina D: suficiencia (≥ 40 ng/ml), insuficiencia (40-20 ng/ml) y deficiencia (< 20 ng/ml). Resultados: se observó deficiencia de vitamina D en el 75% de los pacientes. Estos pacientes tenían mayor índice de masa corporal (p = 0,006) y concentraciones plasmáticas mas bajas de PTH (p = 0,045). Además, hubo más pacientes con diabetes mellitus tipo 2 (DM2) y dislipemia (DLPM) en el grupo con niveles de 25 (OH) D < 20 ng/ml. Asimismo la 25 (OH) D se correlacionó negativamente con la masa grasa (r =-0,504; p = 0,009), el IMC (r =-0,394; p = 0,046) y la hipertensión arterial (r =-0,637; p = 0,001). Conclusión: De nuestros hallazgos concluimos que la deficiencia de vitamina D es muy común entre los candidatos a CB y que la misma está asociada con DM2 y DLPM. Aunque hay pocos datos sobre el mejor tratamiento para el bajo nivel de vitamina D en los pacientes candidatos CB, la detección de la deficiencia de vitamina D debe realizarse de forma rutinaria en estos casos. 25-hydroxy vitamin D and syndrome metabolic components in candidates to bariatric surgery Vitamina D y componentes del síndrome metabólico en candidatos a cirugía bariátrica

A new 10-keto bis-tetrahydrofuran acetogenin, guanacone (1), has been isolated from a cytotoxic extract of Annona aff. spraguei seeds. The 10-oximeguanacone derivative 1f is the first bioactive nitrogenated acetogenin found to be a very potent inhibitor of complex I. In addition, a SAR study of guanacone analogues is reported based on the titration of the NADH oxidase and NADH:ubiquinone oxidoreductase activities.

Aim: The aim of our study was to evaluate a hypercaloric sweet milk-based oral nutrition supplement in a prospective 3-day study designed to assess the taste preferences of this oral nutritional supplement (ONS) in malnourished inpatients and the influence on adherence in daily intake. Methods: A total of 46 in patients with recent weight loss were included in this study. One flavor (chocolate, vanilla or strawberry) was administered each day in a random way to each patient during 3 consecutive days. In the first 3 days, patients were asked to fill 2 questionnaires intended for reflecting ONS tolerance and acceptance. Results: Sweet was better for chocolate flavor (3.9 ± 2.4 points) than for vanilla flavor (2.7 ± 2.3 points; p < 0.02) and strawberry flavor (3.1 ± 2.3 points; p < 0.01). Chocolate flavored ONSs were rated as having more aftertaste (3.4 ± 2.1 points) than vanilla (2.4 ± 2.1 points; p < 0.01) and strawberry (2.6 ± 1.5 points; p < 0.03). Patients who chose chocolate took a total of 20.7 ± 20.9 average bricks during hospitalization (1.95 ± 0.2 per day), patients who chose vanilla took 18.6 ± 21.0 bricks (1.90 ± 0.7 per day) and finally patients who chose strawberry took 14.5 ± 13.5 bricks during admission (1.78 ± 0.1 per day; p < 0.01). Conclusions: The taste preferences of all the ONSs are similar although the consumption is high in chocolate flavored ONS during hospitalization. Sweetness may have influenced this finding.

Purpose The COVID-19 pandemic could exacerbate the risk factors for weight gain in patients with previous bariatric surgery. The aim of this study was to evaluate factors related to weight gain during lockdown in patients with a sleeve gastrectomy. Materials and Methods A group of 48 obese subjects with previous bariatric surgery was enrolled. After a 7-week confinement, a telephone interview was conducted. In this phone call, self-reported body weight gain and different factors were recorded. In order to obtain the basal and pre-surgical data, biochemical and anthropometric parameters were recorded from electronic medical record. Results The mean age was 45.3±8.0 years (range: 23–61) and the mean body mass index (BMI) was 32.5±7.5 kg/m 2 (range: 28.6–34.2). Gender distribution was 38 females (79.2%) and 10 males (20.8%). The increase in self-reported body weight was 3.8±2.1 kg during the 7 weeks of confinement. And the self-reported body weight gain was lower in subjects with regular exercise (4.6±0.9 vs 1.1±0.3 kg; p =0.02). The number of face-to-face visits to the nutrition office that did not attend was 0.61±0.81 (range: 0–4) per patient. In the multiple regression analysis with self-reported body weight gain as a dependent variable, the physical activity (minutes/week) remained as a protective factor with a beta coefficient of −0.09 (95% CI: −0.001 to 0.016; p =0.03) and number of face-to-face appointments in the nutrition consultation missed as a risk factor with a beta coefficient of 9.65 (95% CI: 1.17–18.12; p =0.03). Conclusions The increase in self-reported body weight is associated with a decrease in physical activity and the loss of face-to-face visits to the Nutrition Unit.