Identification of SYNJ1 in a Complex Case of Juvenile Parkinsonism Using a Multiomics Approach

This study aimed to elucidate the genetic causes underlying the juvenile parkinsonism (JP) diagnosed in a girl with several family members diagnosed with spinocerebellar ataxia type 2 (SCA2). To achieve this, whole-exome sequencing, analysis of CAG repeats, RNA sequencing analysis on fibroblasts, and metabolite identification were performed. As a result, a homozygous missense mutation SNP…

Associations of occupational and leisure-time physical activity with all-cause mortality: an individual participant data meta-analysis

Objective Health effects of different physical activity domains (ie, during leisure time, work and transport) are generally considered positive. Using Active Worker consortium data, we assessed independent associations of occupational and leisure-time physical activity (OPA and LTPA) with all-cause mortality. Design Two-stage individual participant data meta-analysis. Data source Published and unpublished cohort study data. Eligibility…

Age- and gender-based social inequalities in palliative care for cancer patients: a systematic literature review

Objectives: Cancer is a major public health problem worldwide, given its magnitude and growing burden, in addition to the repercussions on health and quality of life. Palliative care can play an important role improving quality of life and it is cost-effective, but some population groups may not benefit from it or benefit less based on…

Anticipated prehospital decision delay in response to different symptom clusters in acute coronary syndrome: Results from the Spanish Cardiobarometer study

Background and objective Reducing patient decision delay – the time elapsed between symptom onset and the moment the patient decides to seek medical attention – can help improve acute coronary syndrome survival. Patient decision delay is typically investigated in retrospective studies of acute coronary syndrome survivors that are prone to several biases. To offer an…

Cyberbullying and Suicidal Behavior, Self-Harm, and Nonsuicidal Self-Injury: A Systematic Review of Longitudinal Studies

Aim: Identify and systematically review cohort studies examining the association between cyberbullying (CB) and suicidal ideation, attempted suicide, self-harm, and nonsuicidal self-injury (NSSI). Methods: Systematic literature review following PRISMA guidelines. Searches for relevant literature were conducted in Scopus, Web of Science, PubMed, PsyINFO, CINAHL, Embase, and Cochrane up until July 2023. Cohort studies were included…

Chrono-Nutrition, Chrono-Type, and the Prevalence of Type 2 Diabetes Mellitus in a Cross-Sectional Study from the EuroPean Prospective Investigation into Cancer and Nutrition (EPIC) Study

Background: Previous studies have shown that meal timing, poor sleep quality, and chronotype may play a relevant role in the development of type 2 diabetes mellitus (T2DM). However, its relationship with macronutrients by eating occasions has not been explored deeply. Objective: Our aim was to estimate the association between chrono-nutrition, sleep quality, chronotype, and the…

Comparing temporal changes and predictors of different types of mental health and socio-emotional wellbeing outcomes during COVID-19: an overlapping panel study of Spanish residents

Objectives Few panel studies have investigated how different types of mental health (MH) and socio-emotional wellbeing (SEW) outcomes have changed during the pandemic and if their burden has been equally distributed at the population-level. We aimed to examine temporal changes in these outcomes and their socio-ecological predictors using panel data. Study design Longitudinal population-based survey…

Uno detrás de otro: Factores que influyen en el abandono del ejercicio de la Medicina Familiar y Comunitaria en jóvenes médicos y médicas de familia. Un estudio cualitativo

FUNDAMENTOS // Una Atención Primaria fuerte tiene efectos beneficiosos para la salud. El atributo de la misma con mayores beneficios es la longitudinalidad, que requiere de estabilidad laboral para poder producirse. Además, la Atención Primaria se enfrenta a una crisis por el número de jubilaciones que espera. Conseguir la permanencia de los profesionales jóvenes en…

Association of body shape phenotypes and body fat distribution indexes with inflammatory biomarkers in the European Prospective Investigation into Cancer and Nutrition (EPIC) and UK Biobank

Background The allometric body shape index (ABSI) and hip index (HI), as well as multi-trait body shape phenotypes, have not yet been compared in their associations with inflammatory markers. The aim of this study was to examine the relationship between novel and traditional anthropometric indexes with inflammation using data from the European Prospective Investigation into…

Molecular Mechanisms Linking Genes and Vitamins of the Complex B Related to One-Carbon Metabolism in Breast Cancer: An In Silico Functional Database Study

Carcinogenesis is closely related to the expression, maintenance, and stability of DNA. These processes are regulated by one-carbon metabolism (1CM), which involves several vitamins of the complex B (folate, B2, B6, and B12), whereas alcohol disrupts the cycle due to the inhibition of folate activity. The relationship between nutrients related to 1CM (all aforementioned vitamins…