"Objective: This study explored and compared stakeholder perspectives on enhancements to cervical cancer screening for vulnerable women across seven European countries. Design: In a series of Collaborative User Boards, stakeholders were invited to collaborate on identifying facilitators to improve cervical cancer screening. Setting: This study was part of the CBIG-SCREEN project which is funded by the European ...
Introduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpa...
Cannabinoids have long been known for their bioactive properties, with their topical application as anti-inflammatory compounds being at the forefront of research for the past decade. Concurrently, the cosmetic market is a fast-growing industry in constant need of new biomolecules. In this work, we studied the safety profile for topical applications of two cannabinoids: cannabidiol (CBD) and cannabigerol (CBG) ...
"Purpose Limited research has examined the combined effects of psychosocial and material adversities experienced in childhood during adolescence, a sensitive period of rapid social, emotional, and cognitive development. We investigated the interaction effect of adverse childhood experiences (ACEs) and socioeconomic circumstances (SECs) during childhood on emerging self-reported depressive symptomatology among 1...
Objectives The aim of this study was to map and compare stakeholders’ perceptions of barriers towards cervical cancer screening for vulnerable women in seven European countries. Design In Collaborative User Boards, stakeholders were invited to participate to identify barriers towards participation in cervical cancer screening. Setting The study is nested in the European Union-funded project CBIG-SCREEN which ai...
SignificanceWhat is Already Known on this Subject? The effect of a preterm delivery on parents' QoL yields inconsistent results, mainly due to a considerable heterogeneity regarding the operationalization of QoL, the use of different units of analysis, and different periods of data collection. Also, most studies restrict their analysis to mothers, with few attempts to assess parents's QoL during mother's return...
This longitudinal population-based birth cohort study aims to identify childhood adversity patterns over the first 13 years of life and to examine its association with health-related behaviours and outcomes in early adolescence. Using data from the Portuguese birth cohort Generation XXI, we performed latent class analysis to explore the underlying patterns of adversity from birth to early adolescence, using 13 ...
variable degrees of developmental delay and intellectual disability that were recently delineated as DeSanto- Shinawi syndrome (OMIM 616708). We describe a patient with DeSanto-Shinawi syndrome caused by a novel frameshift variant in WAC gene (NM_016628.4(WAC):c.1689del (p.Phe563Leufs*6)). As noted in cases previously reported, our patient phenotype included facial dysmorphism, intellectual disability, behavior...
Adverse childhood experiences (ACEs) are a modifiable risk factor for diseases throughout life. This study estimates the prevalence of ACEs in children, addressing associated sociodemographic characteristics and examining the relationship of ACEs with the child’s health and behaviors. We used information on 5295 participants at 10 years old, of the birth cohort Generation XXI, established in Porto, Portugal. Ch...
Assessing public and patients’ expectations and concerns about genomic data sharing is essential to promote adequate data governance and engagement in rare diseases genomics research. This cross-sectional study compared the views of 159 rare disease patients, 478 informal carers and 63 healthcare professionals in Northern Portugal about the benefits and risks of sharing genomic data for research, and its associ...