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Introduction: Screening instruments specifically developed to identify genetic testing applicants who may need professional psychosocial support are much needed. However, there are no screening instruments validated for the Portuguese language. This paper presents the translation, adaptation, and validation process of the Genetic Psychosocial Risk Instrument in a sample of 207 Portuguese applicants to genetic testing in the context of inherited cancer risk.
Material And Methods: Participants were mainly female (84.06%), with a mean age of 40.08 (SD = 12.89) and were recruited from the Portuguese Oncology Institute of Porto. Confirmatory factor analysis was conducted to confirm the Genetic Psychosocial Risk Instrument factorial structure. Convergent validity was assessed with the Impact of Events Scale, the Clinical Outcome Routine Evaluation - Outcome Measure, and the Hospital Anxiety and Depression Scale.
Results: A model composed by the factors 'Internal Impact of Genetic Testing', 'External Impact of Genetic Testing' and 'History of Mental Health Concerns' was confirmed. These factors showed good internal consistency, convergent and discriminant validity. The factor 'Personal Loss to Cancer' proposed in the Canadian and French versions did not converge. We propose excluding this factor from the European Portuguese version of the scale.
Conclusion: The European Portuguese version of the Genetic Psychosocial Risk Instrument is a reliable and valid instrument, although more research is needed to effectively use it in routine clinical oncogenetic departments.
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http://dx.doi.org/10.20344/amp.16497 | DOI Listing |
Prog Neuropsychopharmacol Biol Psychiatry
September 2025
Department of Women's and Children's Health, SciLifeLab, Uppsala University, Sweden. Electronic address:
Estrogens are suggested to affect mood by binding to widespread estrogen receptors in the brain and therewith modulating a variety of neurosignaling pathways. Single nucleotide polymorphisms (SNPs) in the genes encoding estrogen receptors might influence these actions and thereby play a role in the genetic foundation of mood disorders. Several SNPs in the estrogen receptor 1 (ESR1) gene have been studied in relation to anxiety and depression, while confounders and interaction with psychosocial factors have largely been overlooked.
View Article and Find Full Text PDFPublic Health Rep
September 2025
Department of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Objective: Rare diseases collectively affect approximately 30 million people in the United States. Despite advances in genomic medicine, early diagnosis is challenging because of limited awareness of, accessibility to, and disparities in health care resources. We assessed the real-world experiences of patients with rare diseases in Pennsylvania and evaluated the effect of delayed diagnosis on psychosocial and financial burdens.
View Article and Find Full Text PDFOsteoarthritis Cartilage
September 2025
Clinical Epidemiology Unit, Orthopaedics, Department of Clinical Sciences Lund, Lund University, Lund, Sweden. Electronic address:
Aim: To summarise key epidemiological and therapeutic research on osteoarthritis (OA) published between April 2024 and March 2025.
Methods: A narrative review was conducted using the MEDLINE database, focusing on English-language studies involving human participants published between April 1, 2024 and March 31, 2025. Eligible studies included observational longitudinal studies, systematic reviews, meta-analyses, and phase II-IV randomised controlled trials (RCTs) examining OA treatment and epidemiology.
Mol Psychiatry
September 2025
Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA.
Increases in impulsivity and negative affect (e.g., neuroticism) are common during adolescence and are both associated with risk for alcohol-use initiation and other risk behaviors.
View Article and Find Full Text PDFBMJ Open
September 2025
Faillace Department of Psychiatry and Behavioral Sciences, The University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA.
Introduction: Exposure to prescription opioids following traumatic injury can increase the risk of developing tolerance, persistent opioid use and opioid use disorder. The mechanisms underlying opioid tolerance or dependence are not well understood, and no biomarkers predict risk. Opioid exposure causes epigenetic modifications, including alterations in microRNA (miRNA) expression.
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