Impact of Pharmacogenetics on High-Dose Methotrexate Toxicity in Pediatric Oncology

Background: Childhood cancers represent a heterogeneous group of malignancies and remain one of the leading causes of mortality among children under 14 years of age, ranking second only to accidental injuries, and fourth among individuals aged 15 to 19 years. Despite notable improvements in cure rates, a substantial proportion of patients experience acute or long-term…

Impact of lockdown on COVID-19 incidence and mortality in China: an interrupted time series study

Objective: to evaluate the effectiveness of strict social distancing measures applied in China in reducing the incidence and mortality from COVID-19 in two Chinese provinces. Methods: We assessed incidence and mortality rates in Hubei and Guangdong before and after the lockdown period in cities in Hubei. An interrupted time series study was conducted to evaluate the effectiveness of…

Impact of educational policies on access to health care in Brazil: A cross-sectional study

Introduction Various initiatives to improve access to health care have been implemented internationally. In Brazil, this has included policies intended to expand access to higher education for underrepresented socio-economic groups. These measures have reduced inequalities in access to medical education, but it is not known whether they influence career choices. We examine the effect of…

Impact of cumulative body mass index and cardiometabolic diseases on survival among patients with colorectal and breast cancer: a multi-centre cohort study

Background Body mass index (BMI) and cardiometabolic comorbidities such as cardiovascular disease and type 2 diabetes have been studied as negative prognostic factors in cancer survival, but possible dependencies in the mechanisms underlying these associations remain largely unexplored. We analysed these associations in colorectal and breast cancer patients. Methods Based on repeated BMI assessments of…

Impact of COVID-19 on the Health of the General and More Vulnerable Population and Its Determinants: Health Care and Social Survey–ESSOC, Study Protocol

This manuscript describes the rationale and protocol of a real-world data (RWD) study entitled Health Care and Social Survey (ESSOC, Encuesta Sanitaria y Social). The study’s objective is to determine the magnitude, characteristics, and evolution of the COVID-19 impact on overall health as well as the socioeconomic, psychosocial, behavioural, occupational, environmental, and clinical determinants of…

Identifying Metabolomic Mediators of the Physical Activity and Colorectal Cancer Relationship

Background: Current evidence suggests higher physical activity (PA) levels are associated with a reduced risk of colorectal cancer. However, the mediating role of the circulating metabolome in this relationship remains unclear. Methods: Targeted metabolomics data from 6,055 participants in the European Prospective Investigation into Cancer and Nutrition cohort were used to identify metabolites associated with…

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…

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10−8) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative…

Identification and prioritisation of risks in a hospital pharmacy using healthcare failure mode and effect analysis

Objectives The goals of this project included identifying the processes and subprocesses performed in hospital pharmacies, identifying potential adverse events, detecting failure modes and the causes of errors, prioritising the risks identified and designing a map of risks for hospital pharmacies. Methods A task force composed of hospital pharmacy staff was committed to update the…

Identification and prioritisation of biomarkers of organophosphorus compounds-induced neurotoxicity

Organophosphorus compounds (OPCs), a diverse group of chemicals widely utilised as pesticides and flame retardants, pose significant neurotoxic risks, even during neurodevelopment. While their primary molecular and cellular targets are well characterised, growing evidence suggest additional mechanisms, particularly in developmental neurotoxicity. Despite extensive research, predictive biomarkers of OPC-induced neurotoxicity beyond acetylcholinesterase remain underexplored. This study…