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Background Whilst individually rare, affecting less than 1 in 2,000 people, together rare diseases (RDs) affect an estimated 475 million people globally, including 4 million people within the UK. RDs are often associated with unmet care needs, which can impact both physical and mental health. Harnessing the UK Biobank, health and wellbeing data from 502,401 individuals over the age of 40 was assessed. Using the Orphanet database for rare diseases and International Classification of Diseases Codes 10 (ICD10) from the UK Biobank, participants were classified as having no diagnosis, non-rare diagnoses only, or a rare diagnosis with or without comorbidities. Results Mental health, pain, physical wellbeing, and comorbidity measures were compared between these three groups. Depression and anxiety was significantly more common in those living with a rare disease (67% and 65%, respectively) compared to non-rare diagnoses (NRD) (p < 4x10-7). Depression and anxiety was more common in females compared to males across all groups (p < 0.009). Individuals living with a RD experienced significantly more general pain (p < 3x10-28), and reported significantly reduced physical activity (p < 3x10-44), compared to NRD. A higher proportion of individuals living with a RD also presented a higher comorbidity burden, when compared to individuals living with NRD (NRD: Median number of comorbidities = 5, IQR = 3-10, RD: Median number of comorbidities = 17, IQR = 10-29). Conclusion This study reveals a significant burden of disease diagnosis, which is further exacerbated by a rare disease diagnosis. This work highlights the need for novel support mechanisms to target the specific needs of patients living with a RD, with careful consideration of gender-specific influences.
Background Whilst individually rare, affecting less than 1 in 2,000 people, together rare diseases (RDs) affect an estimated 475 million people globally, including 4 million people within the UK. RDs are often associated with unmet care needs, which can impact both physical and mental health. Harnessing the UK Biobank, health and wellbeing data from 502,401 individuals over the age of 40 was assessed. Using the Orphanet database for rare diseases and International Classification of Diseases Codes 10 (ICD10) from the UK Biobank, participants were classified as having no diagnosis, non-rare diagnoses only, or a rare diagnosis with or without comorbidities. Results Mental health, pain, physical wellbeing, and comorbidity measures were compared between these three groups. Depression and anxiety was significantly more common in those living with a rare disease (67% and 65%, respectively) compared to non-rare diagnoses (NRD) (p < 4x10-7). Depression and anxiety was more common in females compared to males across all groups (p < 0.009). Individuals living with a RD experienced significantly more general pain (p < 3x10-28), and reported significantly reduced physical activity (p < 3x10-44), compared to NRD. A higher proportion of individuals living with a RD also presented a higher comorbidity burden, when compared to individuals living with NRD (NRD: Median number of comorbidities = 5, IQR = 3-10, RD: Median number of comorbidities = 17, IQR = 10-29). Conclusion This study reveals a significant burden of disease diagnosis, which is further exacerbated by a rare disease diagnosis. This work highlights the need for novel support mechanisms to target the specific needs of patients living with a RD, with careful consideration of gender-specific influences.
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BACKGROUND The integration of gender and sexuality awareness in healthcare is increasingly recognized as vital for patient outcomes. Despite this, there is a notable lack of comprehensive data on the current state of medical professionals' training and perceptions in these areas, leading to a gap in targeted educational interventions and optimal healthcare delivery. OBJECTIVE The study's aim is to explore the experiences and perceptions of medical residents and professionals regarding the inclusion of gender and sexuality content in their education and subsequent professional practice. METHODS This cross-sectional survey targeted a diverse group of medical professionals across various specializations and experience levels. Distributed through medical associations and professional networks, it included sections on experiences with gender and sexuality content, perceptions of knowledge, the impact of training on professional capabilities, and views on integrating gender medicine in medical education. Descriptive and correlational analyses, along with gender-based and medical status-based comparisons, were employed. RESULTS The survey, encompassing 189 respondents, revealed low to moderate exposure to gender and sexuality content in academic settings, with a similar perception of preparedness. A need for more comprehensive training was widely recognized. The majority valued training in these areas for enhancing professional capabilities, identifying ten essential gender-related knowledge areas. The preference for integrating gender medicine throughout medical education was significant. Gender-based analysis indicated variations in exposure and perceptions, underscoring the importance of tailored educational strategies. CONCLUSIONS The study highlights a crucial need for the inclusion of gender and sexuality awareness in medical education and practice. It suggests the necessity for curriculum development, targeted training programs, policy advocacy, mentorship initiatives, and research to evaluate the effectiveness of these interventions. The findings serve as a foundation for future directions in medical education, aiming for a more inclusive, aware, and prepared medical workforce.
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