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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…
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 Data source Published and unpublished cohort study data.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…
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…
Pregnancy is a complex and challenging process associated with physiological changes whose objective is to adapt the maternal organism to the increasing energetic requirements due to embryo and fetal development. A failed adaptation to these demands may lead to pregnancy complications that threaten the health of both mothers and their offspring. Since mitochondria are the…
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…
Background Adiposity has been characterised as a modifiable risk factor of prostate cancer. Its association with outcomes after prostate cancer diagnosis, however, needs to be better understood and obtain more evidence to assist the development of lifestyle guidance for prostate cancer patients. Methods We investigated the associations between adiposity indices close to prostate cancer diagnosis…
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…
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…
Aim The aim of the study is to quantify the main ways in which the sex of the driver/occupant of a passenger car affects the severity of road crashes. Methods All 171 230 cars occupied by the driver and one or more passengers included in the Spanish Register of Victims of Road Crashes from 2014 to…
Advanced glycation end-products (AGEs), formed endogenously or obtained exogenously from diet, may contribute to chronic inflammation, intracellular signaling alterations, and pathogenesis of several chronic diseases including colorectal cancer (CRC). However, the role of AGEs in CRC survival is less known. The associations of pre-diagnostic circulating AGEs and their soluble receptor (sRAGE) with CRC-specific and overall…