RESUMEN
People with schizophrenia have died at disproportionately higher rates during recent extreme heat events (EHEs) in Canada, including the deadly 2021 Heat Dome in British Columbia (B.C.). However, to date, little research has qualitatively focused on how people with schizophrenia experience and respond to EHEs. This study aimed to (i) explore how people with schizophrenia experienced and were impacted by the 2021 Heat Dome physically, cognitively, and emotionally and (ii) understand their level of awareness and health-protective actions taken in response to the EHE. Between October 2023 and February 2024, interviews were conducted with 35 people with schizophrenia who experienced the 2021 Heat Dome in a community setting within B.C., Canada. The semi-structured interviews were guided by pre-defined questions to explore the participant's background, living situation, social network, awareness and access to heat-mitigation measures. The transcripts were analyzed using a descriptive form of thematic analysis. Participants shared critical insights on how the EHE impacted them, including descriptions of mild to severe physical manifestations of heat stress (e.g., fainting, heat rashes), the triggering of schizophrenia-related symptoms (e.g., paranoia, hallucinations), and the detrimental effects on their energy levels and emotional stability, which further caused disruptions to their everyday life. Participants also illustrated gaps in knowledge and challenges experienced with accessing information, which hindered their ability to manage the heat exposure effectively and, for some, resulted in no actions (or counter-intuitive actions) being taken to mitigate the heat. These findings demonstrate the complex ways that individuals with schizophrenia experienced and responded to the 2021 Heat Dome and revealed various situational and contextual factors that further compounded the challenge of heat mitigation. These findings can support the development of tailored individual and community-level heat response and communication initiatives and strategies for people with schizophrenia.
Asunto(s)
Esquizofrenia , Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Colombia Británica , Calor Extremo/efectos adversos , Entrevistas como Asunto , Anciano , Adulto Joven , CanadáRESUMEN
PALB2 (partner and localizer of BRCA2) is a recently identified breast cancer susceptibility gene, in which mutations confer doubling of breast cancer risk with moderate to low penetrance. Recent studies in various populations report that deleterious mutations in this gene account for approximately 1% of familial or early-onset breast cancer cases. This study aimed to determine the involvement of PALB2 mutations in a cohort of 48 young (29-45 years) South African breast cancer patients unselected for family history of breast cancer. The complete coding region and intron-exon boundaries of PALB2 were analyzed. A novel truncating mutation, c.697delG (V233fs) was identified in one patient. A missense variant (E211G), identified in another patient, appears to be segregating with the disease, but in silico analysis using SIFT, PolyPhen and A-GVGD, indicates that this variant is nonpathogenic. In addition, four other missense, one synonymous and three intronic variants were detected, all of which appear polymorphic. This represents the second study to analyze the role of PALB2 in early-onset breast cancer patients unselected for family history. The first study, of a Chinese population, established that PALB2 was responsible for 1.3% of early-onset breast cancer cases. Our study reports that deleterious mutations in PALB2 account for approximately 2% (1/48) of South African early-onset breast cancer.