Evening chronotype associates with health complications possibly via lifestyle factors, while the contribution of genetics is unknown. The aim was to study the relative contributions of genetics, lifestyle, and circadian-related physiological characteristics in metabolic risk of evening chronotype. In order to capture a biological contribution to chronotype, a genetic-risk-score (GRS), comprised of 15 chronotype-related variants, was tested. Moreover, a wide range of behavioral and emotional eating factors was studied within the same population. Chronotype, lifestyle, and metabolic syndrome (MetS) outcomes were assessed (n = 2,126), in addition to genetics (n = 1,693) and rest-activity/wrist-temperature rhythms (n = 100). Evening chronotype associated with MetS and insulin resistance (P < 0.05), and several lifestyle factors including poorer eating behaviors, lower physical activity and later sleep and wake times. We observed an association between higher evening GRS and evening chronotype (P < 0.05), but not with MetS. We propose a GRS as a tool to capture the biological component of the inter-individual differences in chronotype. Our data show that several modifiable factors such as sedentary lifestyle, difficulties in controlling the amount of food eaten, alcohol intake and later wake and bed times that characterized evening-types, may underlie chronotype-MetS relationship. Our findings provide insights into the development of strategies, particularly for evening chronotype.

Aims : Knowledge of the features of patients with familial hypercholesterolaemia (FH) who are protected from atherosclerotic cardiovascular disease (ASCVD) is important for the clinical and prognostic care of this apparently high-risk condition. Our aim was to investigate the determinant and characteristics of patients with FH who are protected from ASCVD and have normal life expectancy, so-called ‘resilient’ FH (R-FH). Methods and results : Spanish Familial Hypercholesterolaemia cohort study (SAFEHEART) is an open, multicentre, nation-wide, long-term prospective cohort study in genetically defined patients with heterozygous FH in Spain. Patients in the registry who at the time of analysis were at least 65 years or those who would have reached that age had they not died from an ASCVD event were analysed as a case–control study. Resilient FH was defined as the presence of a pathogenic mutation causative of FH in a patient aged ≥65 years without clinical ASCVD. Nine hundred and thirty registrants with FH met the study criteria. A defective low-density lipoprotein (LDL)-receptor mutation, higher plasma level of high-density lipoprotein cholesterol (HDL-C), younger age, female gender, absence of hypertension, and lower plasma lipoprotein (a) [Lp(a)] concentration were independently predictive of R-FH. In a second model, higher levels of HDL-C and lower 10-year score in SAFEHEART-RE were also independently predictive of R-FH. Conclusion : Resilient FH may be typified as being female and having a defective LDL-receptor mutation, higher levels of plasma HDL-C, lower levels of Lp(a), and an absence of hypertension. The implications of this type of FH for clinical practice guidelines and the value for service design and optional care of FH remains to be established. Trial registration: ClinicalTrials.gov number NCT02693548.

Introduction: Latin American immigrants comprise an important population group in the United States. The purpose of this study was to analyze the attitude toward living kidney donation found among Latin American citizens who are residents in Florida and to identify the psychosocial variables affecting their attitude. Material and Methods: A sample of Latin American residents in the state of Florida was randomly obtained and stratified by nationality, age, and sex (n = 1524). Attitude was assessed through a validated questionnaire that was self-administered and completed anonymously. Descriptive, Student t test and the χ² test were used to analyze findings. Results: The questionnaire completion rate was 94% (N = 1433), with 59% (n = 845) in favor of related living donation, 40% (n = 571) were opposed to donation, with the remaining 1% (n = 17) undecided. The following variables were related to attitude toward living donation: country of origin ( P < .001), marital status ( P < .001), having descendants ( P = .004), educational background ( P < 0.001), having had previous experience of donation and transplantation ( P < .001), attitude toward deceased donation ( P < .001), considering the possibility of needing a transplant ( P < .001), the respondent’s partner’s opinion ( P < .001), having considered the subject with one’s family ( P < .001), having carried out prosocial type activities ( P < .001), the respondent’s religion ( P < .001), knowing that one’s religion is in favor of this therapy ( P < .001), concern about mutilation after donation ( P < .001), and considerations of the risks of living donation ( P < .001). Conclusions: The attitude toward related living kidney donation of Latin American residents in Florida is not very favorable (only 59%).

Background: Pheochromocytoma (PHEO) is a rare neuroendocrine tumour with a strong genetic link, which therefore may modify its clinical behaviour and prognosis. The aim of the study is to evaluate the epidemiological and clinical differences between patients with sporadic and familial PHEO, as well as the specific differences in the index cases. Methods: A retrospective analysis of 136 patients in a tertiary hospital (1984–2021). Epidemiological, clinical, and histological variables were analysed. Statistics: SPSS 28.0 software was used. Univariate and multivariate logistic regression analyses were performed. p < 0.05 was considered statistically significant. Results: 64.71% of the cases (n = 88) presented a genetic mutation (familial cases). Additionally, 32.39% (n = 23) corresponded to index cases and the rest to screening cases. The main differences between patients with familial and sporadic PHEO were age (OR = 0.93 (0.89–0.97)), blood pressure-related symptoms (OR = 0.22 (0.06–0.89)), bilaterality (OR = 15.49 (3.76–63.84)), and size (OR = 0.70 (0.54–0.92)). Among patients with sporadic PHEO and index cases, only bilaterality was significant (OR = 13.53 (1.24–144.34)). Conclusions: Patients with familial PHEO diagnosed by screening differ from sporadic cases in terms of age, clinical features, and size. However, patients with sporadic PHEO only differ from index cases by a lower presence of bilaterality, which reaffirms the importance of genetic screening of patients with PHEO and their relatives.

The situation of confinement due to the covid-19 pandemic has led to accelerate the process of integration of ICT in the Degree in Medicine to be able to finish the academic year. In this study we evaluated the student assessment of four screencast seminars in Endocrinology, given in 5th grade of Medical Degree. The video and audio recording of four seminars was made, the contents were edited with the Avid Media Composer First editing software, and the final production of the video was made in the mp4 h264 format with a duration of 10-15 minutes; being published in the "Virtual Classroom" platform of the University of Murcia. The evaluation of the seminars was done through an online questionnaire. In order to analyze the opinion of the students, a satisfaction survey was administered, with an evaluation by means of a Likert type scale. The evaluation questionnaires were carried out by 195 students. The score was higher than 8 in the four seminars. The seminars had 373, 519, 452 and 390 views, respectively. The average evaluation of the questions in the satisfaction survey were: importance of the seminar: 4.51 ±0.62, usefulness: 4.58 ±0.59, adequacy of the methodology: 4.46 ±0.66, presentation of the contents: 4.62 ±0.64, duration: 4.48 ±0.82, mastery of the subject by the teachers: 4.92 ±0.29, motivation of the students: 4.50 ±0.67. The screencast has turned out to be an adequate multimedia resource to adapt the practical seminars of Endocrinology in the Degree in Medicine. La situación de confinamiento debido a la pandemia por covid-19 ha llevado a acelerar el proceso de integración de las TIC en el Grado en Medicina para poder finalizar el curso académico. En este estudio evaluamos la valoración del alumnado de cuatro seminarios impartidos mediante screencast en Endocrinología, impartida en 5º de Grado en Medicina. . Se realizó la grabación del video y audio de cuatro seminarios, se editaron los contenidos con el software de montaje Avid Media Composer First, y se realizó la producción final del video en el formato mp4 h264 con una duración entre 10-15 minutos; siendo publicados en la plataforma “Aula Virtual” de la Universidad de Murcia. La evaluación de los seminarios se realizó mediante un cuestionario online. Para analizar la opinión del alumnado se administró una encuesta de satisfacción, con una valoración mediante una escala tipo Likert. Los cuestionarios evaluativos los realizaron 195 alumnos. La puntuación fue superior a 8 en los cuatro seminarios. Los seminarios tuvieron 373, 519, 452 y 390 visualizaciones, respectivamente. La valoración media de las preguntas de la encuesta de satisfacción fue: importancia del seminario: 4,51 ±0,62, utilidad: 4,58 ±0,59, adecuación de la metodología: 4,46 ±0,66, exposición de los contenidos: 4,62 ±0,64, duración: 4,48 ±0,82, dominio de la materia por el profesorado: 4,92 ±0,29, motivación del alumnado: 4,50 ±0,67. El screencast ha resultado ser un recurso multimedia adecuado para adaptar los seminarios prácticos de Endocrinología en el Grado en Medicina.

Diabetic nephropathy is the most important cause of renal failure worldwide and is characterized by sustained inflammation regulated in part by NLRP3 Inflammasome. Attenuation of inflammation is a major priority to prevent renal damage. Our previous publications show that DJ-1 has antioxidant and anti-inflammatory properties in the kidney. ND-13 is a short peptide consisting of 13 amino acids of the DJ-1-protein, which could increase DJ-1 pathway activation. The aim of these studies was to determine the role of NLRP3 in the pathogenesis of diabetic nephropathy and to study the possible renal protective effects of the DJ-1 pathway in diabetic mice and on inflammasome regulation. Bone marrow derived macrophages were treated with ND-13 and cultivated in high and low glucose. Diabetes was induced in C57Bl/6 mice via injection of streptozotocin and treated with ND-13 and MCC950, an inhibitor of the NLRP3 inflammasome. Peripheral mononuclear cells were isolated from human with diabetes, diabetic nephropathy and healthy donors and were plated, pretreated with ND-13 and stimulated with LPS+ATP. IL-1β concentration in the medium of bone marrow derived macrophages increased by NLRP3 inflammasome stimulation by LPS+ATP, and decreased in macrophages pre-treated with ND-13, however, in the presence of LPS+Nigericin no effect was found. Peritoneal macrophages from diabetic mice were obtained and plated. Streptozotocin-induced diabetic C57BL/6 mice have increased the peritoneal cells IL-1β production compared with control mice, suggesting that inflammasome may be activated in macrophages during diabetes and that ND-13 treatment normalized its activity. ND-13 and MCC950 decreased histologic evidence of tubular injury in STZ-induced diabetes in mice, additionally, significantly increased the mRNA expression of Col-I, Col-II, Tgf-β, Il-6, Tnf-α and P2x7 in the renal cortex, which was partially prevented by ND-13 and MCC950 pre-treatment. P2x7 mRNA expression was also increased in peritoneal macrophages obtained from diabetic mice, and its expression was attenuated by ND-13 pre-treatment. Peripheral mononuclear cells isolated from patient’s blood were plated and stimulated with LPS+ATP. Patients with diabetic nephropathy presented a significant increase of IL-1β release compared to diabetic individuals and ND-13 could has a role in the prevention of inflammasome activation in healthy patients. Our results demonstrate that activation of the DJ-1 pathway is a promising approach to prevent renal inflammation and fibrosis during diabetes, by ameliorating inflammasome activation in peripheral immune cells. Thus, ND-13 could be a promising new therapeutic approach to attenuating inflammation and renal damage in diabetic nephropathy.