| 1. |
- Andersson, Andreas, et al.
(författare)
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Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden
- 2020
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Ingår i: Hereditary Cancer in Clinical Practice. - : Springer Science and Business Media LLC. - 1731-2302 .- 1897-4287. ; 18:1
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Tidskriftsartikel (refereegranskat)abstract
- Background Targeted surveillance of at-risk individuals in families with increased risk of hereditary cancer is an effective prevention strategy if relatives are identified, informed and enrolled in screening programs. Despite the potential benefits, many eligible at-risk relatives remain uninformed of their cancer risk. This study describes the general public's opinion on disclosure of hereditary colorectal cancer (CRC) risk information, as well as preferences on the source and the mode of information. Methods A random sample of the general public was assessed through a Swedish citizen web-panel. Respondents were presented with scenarios of being an at-risk relative in a family that had an estimated increased hereditary risk of CRC; either 10% (moderate) or 70% (high) lifetime risk. A colonoscopy was presented as a preventive measure. Results were analysed to identify significant differences between groups using the Pearson's chi-square (chi(2)) test. Results Of 1800 invited participants, 977 completed the survey (54%). In the moderate and high-risk scenarios, 89.2 and 90.6% respectively, would like to receive information about a potential hereditary risk of CRC (chi 2,p = .755). The desire to be informed was higher among women (91.5%) than men (87.0%, chi 2,p = .044). No significant differences were found when comparing different age groups, educational levels, place of residence and having children or not. The preferred source of risk information was a healthcare professional in both moderate and high-risk scenarios (80.1 and 75.5%). However, 18.1 and 20.1% respectively would prefer to be informed by a family member. Assuming that healthcare professionals disclosed the information, the favoured mode of information was letter and phone (38.4 and 33.2%). Conclusions In this study a majority of respondents wanted to be informed about a potential hereditary risk of CRC and preferred healthcare professionals to communicate this information. The two presented levels of CRC lifetime risk did not significantly affect the interest in being informed. Our data offer insights into the needs and preferences of the Swedish population, providing a rationale for developing complementary healthcare-assisted communication pathways to realise the full potential of targeted prevention of hereditary CRC.
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| 2. |
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| 3. |
- Öfverholm, Anna, et al.
(författare)
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Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer
- 2023
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Ingår i: BMC Cancer. - : BioMed Central (BMC). - 1471-2407. ; 23:1
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundGenetic screening for pathogenic variants (PVs) in cancer predisposition genes can affect treatment strategies, risk prediction and preventive measures for patients and families. For decades, hereditary breast and ovarian cancer (HBOC) has been attributed to PVs in the genes BRCA1 and BRCA2, and more recently other rare alleles have been firmly established as associated with a high or moderate increased risk of developing breast and/or ovarian cancer. Here, we assess the genetic variation and tumor characteristics in a large cohort of women with suspected HBOC in a clinical oncogenetic setting.MethodsWomen with suspected HBOC referred from all oncogenetic clinics in Sweden over a six-year inclusion period were screened for PVs in 13 clinically relevant genes. The genetic outcome was compared with tumor characteristics and other clinical data collected from national cancer registries and hospital records.ResultsIn 4622 women with breast and/or ovarian cancer the overall diagnostic yield (the proportion of women carrying at least one PV) was 16.6%. BRCA1/2 PVs were found in 8.9% of women (BRCA1 5.95% and BRCA2 2.94%) and PVs in the other breast and ovarian cancer predisposition genes in 8.2%: ATM (1.58%), BARD1 (0.45%), BRIP1 (0.43%), CDH1 (0.11%), CHEK2 (3.46%), PALB2 (0.84%), PTEN (0.02%), RAD51C (0.54%), RAD51D (0.15%), STK11 (0) and TP53 (0.56%). Thus, inclusion of the 11 genes in addition to BRCA1/2 increased diagnostic yield by 7.7%. The yield was, as expected, significantly higher in certain subgroups such as younger patients, medullary breast cancer, higher Nottingham Histologic Grade, ER-negative breast cancer, triple-negative breast cancer and high grade serous ovarian cancer. Age and tumor subtype distributions differed substantially depending on genetic finding.ConclusionsThis study contributes to understanding the clinical and genetic landscape of breast and ovarian cancer susceptibility. Extending clinical genetic screening from BRCA1 and BRCA2 to 13 established cancer predisposition genes almost doubles the diagnostic yield, which has implications for genetic counseling and clinical guidelines. The very low yield in the syndrome genes CDH1, PTEN and STK11 questions the usefulness of including these genes on routine gene panels.
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| 4. |
- Ahlgren, Madeleine, 1976-, et al.
(författare)
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Self-reported symptoms of low energy availability among female elite athletes and controls
- 2023
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Konferensbidrag (refereegranskat)abstract
- AimWe aimed to investigate symptoms of low energy availability (LEA) among athletes and recreational active people, and the associations with EDs, excessive exercise, and motivation for training and dietary behavioural changes. MethodsSwedish female national team athletes (n=150) from 26 sports, and recreational active women (n=108), 18-39 years were recruited via sport organizations and social media. Participants filled out an anonymous on-line survey comprising the LEA in Females Questionnaire (LEAF-Q), the Eating Disorder Examination Questionnaire (EDE-Q), the Major Depression Index (MDI), the Exercise Addiction Inventory (EAI), and the Motivation to Change Questionnaire (MCQ). LEAF-Q total score >8 and EDE-Q Global score >2.3 were used to classify participants as having symptoms of LEA and eating disorders (EDs), respectively.ResultsOf all participants, 47% had symptoms of LEA with no difference between elite athletes (47%) and controls (48%). Participants with LEA had lower body mass and BMI compared to those with no symptoms, while no differences were found in age or training load. Most of the participants with LEA (69%) did not have symptoms of EDs. However, when excluding all participants with ED symptoms (n=65), participants with LEA had higher EDE-Q sub scale scores, MDI and EAI scores, and they reported poorer health status and reduced ability to increase energy intake and to lower the training load compared to participants with no LEA symptoms. ConclusionOur findings confirm earlier indications that symptoms of LEA is frequent among elite athletes as well as sedentary people, and that most LEA cases do not have EDs. However, our findings suggest that symptoms of LEA may still be associated with poor well-being, restricted eating and excessive training behaviour and negative focus on body shape and weight. Reversing LEA by increased energy intake and/or reduced training load is the only treatment to prevent REDs health and performance implications. Our findings therefore emphasize the need for multidisciplinary prevention strategies to ensure necessary dietary and training behavioural changes.
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| 5. |
- Bäckvall, Lisa, 1980-
(författare)
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The coexistence of family, ownership, and business : Conceptualizing entanglement and business family ownering
- 2022
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- This research engages with the topic of business family ownership through an ethnographically inspired study of business governance-related activities constructed as family members’ business-owning practices relationally and over time. In short, it is about what business families do when owning businesses and how this form of owning can be conceptualized.Corporate governance dominates understandings of ownership and business where ownership is constructed in a particular manner (individualistic, passive, and public) (e.g. La Porta et al., 1999; Robé, 2011). This is also (e.g. Breton-Miller & Miller, 2009; Le Breton-Miller et al., 2011), the theory in use in the family business research field in terms of governance research (e.g. Aguilera & Crespi-Cladera, 2012). Governing in family businesses has also been conceptualized as overlapping spheres of family, ownership, and business/management (Gersick et al., 1997). This study embraces the coexistence of family, ownership, and business/management as entanglement, which is lacking in corporate governance research in general and in family business studies in particular. By extending alternative framings on ownership and family governance (e.g., Brundin et al., 2010; Nordqvist 2016) via firstly an interpretative paradigm and secondly the practice turn, this phenomenon, business family ownership, is thirdly constructed through one of many possible practice theories – social praxeology (Bourdieu & Wacquant, 1992). This theory contributes to create conditions for a renewed understanding of owning as doing within a family business, relationally and over time. Social praxeology not only directs attention to relationality but also to individual and collective embodiment, where the central concepts are capital, field, habitus, and practical sense. Bourdieu’s social praxeology acknowledges a relational ontology and epistemology in his particular version of structuralism interpretivism. In this study it implies that the first and second order structuers are contructed via a reflective field reading.Therefore, the purpose of this thesis is to explore and construct the coexistence of family, ownership, and business/management through a social praxeology reading and conceptualizing the business family ownership, as done together and over time.An ethnographically inspired study (through interviews, shadowing, and participation in corporate events) of business- and governance-related activities (such as company board meetings, top management meetings, and product development meetings) generates an understanding of the entanglement of family, ownership, and business/management during an ongoing change of CEO in a family business. Drawing upon a structural reading in line with Bourdieu’s social praxeology (Bourdieu & Wacquant, 1992), four broad business family ownership practices are constructed: the practice of choosing the next CEO, the practice of calculating, the practice of tasting, and the practice of joking. The first empirical chapter is a reading of capital forms and their structure and distribution within the business family (structures of the first order). In this chapter, the construct of family, along with Bourdieu’s assumptions, is introduced. The second empirical chapter is a reading of both first- and second-order structures, where the family habitus concept is combined with the business dimension in the change of CEO. The third empirical chapter is dominated by the reading of the second-order structures, where the practices of counting, tasting, and joking are constructed as business family owning. These business family ownership practices form an understanding of the entangled nature of a particular family business.This study contributes to generating conditions for understanding business family ownership as private, collective, and transgenerational in contrast to the well-entrenched corporate governance view characterized above. Hence it challenges the dominant views of ownership as property rights that emphasize separateness incorporated in the Gersick et al. (1997) model by instead conceptualizing the coexistence of family, ownership, and management/business as entanglement. Towards a distinction through the conceptualization of entanglement, the family and ownership categories are primarily constructed as a collective subjective corpus operating as structuring structures within a business family field. Business family ownering is a way of governing where the body and its sense reproduce and refine the structures in a family business, forming a specific cultural business family capital. Accordingly, with family habitus, owning turns into ownering. Structuring structure with the particularities of an owner family, relationally inhabited by dominated and dominating agents, forms a business family ownership as ownering, characterized by inertia and relationality.
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| 7. |
- Dahlin, Anna M., 1979-, et al.
(författare)
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A genome-wide association study on medulloblastoma
- 2020
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Ingår i: Journal of Neuro-Oncology. - : Springer. - 0167-594X .- 1573-7373. ; 147:2, s. 309-315
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Medulloblastoma is a malignant embryonal tumor of the cerebellum that occurs predominantly in children. To find germline genetic variants associated with medulloblastoma risk, we conducted a genome-wide association study (GWAS) including 244 medulloblastoma cases and 247 control subjects from Sweden and Denmark.Methods: Genotyping was performed using Illumina BeadChips, and untyped variants were imputed using IMPUTE2.Results: Fifty-nine variants in 11 loci were associated with increased medulloblastoma risk (p < 1 × 10–5), but none were statistically significant after adjusting for multiple testing (p < 5 × 10–8). Thirteen of these variants were genotyped, whereas 46 were imputed. Genotyped variants were further investigated in a validation study comprising 249 medulloblastoma cases and 629 control subjects. In the validation study, rs78021424 (18p11.23, PTPRM) was associated with medulloblastoma risk with OR in the same direction as in the discovery cohort (ORT = 1.59, pvalidation = 0.02). We also selected seven medulloblastoma predisposition genes for investigation using a candidate gene approach: APC, BRCA2, PALB2, PTCH1, SUFU, TP53, and GPR161. The strongest evidence for association was found for rs201458864 (PALB2, ORT = 3.76, p = 3.2 × 10–4) and rs79036813 (PTCH1, ORA = 0.42, p = 2.6 × 10–3).Conclusion: The results of this study, including a novel potential medulloblastoma risk loci at 18p11.23, are suggestive but need further validation in independent cohorts.
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| 8. |
- Emilsson, Ulla Melin, et al.
(författare)
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Lack of Coordination between Health Care and Social Care in Multi-Professional Teamwork : the Obstacle for Coherent Care of Older People Suffering from Multi-Morbidity
- 2022
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Ingår i: Journal of Population Ageing. - : Springer Science and Business Media LLC. - 1874-7876 .- 1874-7884. ; 15:2, s. 319-335
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Tidskriftsartikel (refereegranskat)abstract
- The lack of a cohesive health and social care is a well-known problem of significance for ageing people in general and frail older people in particular. Responsibility for organising and conducting social care and healthcare for the elderly rests on different principals in different countries but difficulties with organisational coordination and collaboration between professions and authorities in social care and healthcare is an extensive concern worldwide. Regardless of the distribution of responsibilities, collaboration and coordination structures are complex and often lead to problems. However, the gap in the coordination between different organisations and the collaboration between professions, implying that frail older people with major care needs still living in their own homes are pinched, has received hardly any recognition. By closely following an implementation project focused on teamwork in order to improve collaboration and coordination between social care and healthcare, the purpose of this article is to fill this gap with the help of an example from Sweden. Data consisted of event diaries, observations, focus groups, structured questionnaires and interviews. Findings showed that multi-professional teams certainly were established, but did not work or last. Among the obstacles found the most prominent features were the various professions’ own organisations, territorial thinking and rivalries. The whole idea of the initiative to achieve a cohesive healthcare and social care for ageing frail older people fell through. By letting this happen, not only did the project hinder the development of better practice in serving older adults, but also cemented the problematic structures it was intended to dissolve.
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| 9. |
- Fahrenholtz, Ida L, et al.
(författare)
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Effects of a 16-Week Digital Intervention on Sports Nutrition Knowledge and Behavior in Female Endurance Athletes with Risk of Relative Energy Deficiency in Sport (REDs)
- 2023
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Ingår i: Nutrients. - Basel : MDPI. - 2072-6643. ; 15:5
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Tidskriftsartikel (refereegranskat)abstract
- Female endurance athletes are considered a high-risk group for developing Relative Energy Deficiency in Sport (REDs). Due to the lack of educational and behavioral intervention studies, targeting and evaluating the effects of the practical daily management of REDs, we developed the Food and nUtrition for Endurance athletes—a Learning (FUEL) program, consisting of 16 weekly online lectures and individual athlete-centered nutrition counseling every other week. We recruited female endurance athletes from Norway (n = 60), Sweden (n = 84), Ireland (n = 17), and Germany (n = 47). Fifty athletes with symptoms of REDs and with low risk of eating disorders, with no use of hormonal contraceptives and no chronic diseases, were allocated to either the FUEL intervention (n = 32) (FUEL) or a 16-week control period (n = 18) (CON). All but one completed FUEL, while 15 completed CON. We found strong evidence for improvements in sports nutrition knowledge, assessed via interviews, and moderate to strong evidence in the ratings concerning self-perceived sports nutrition knowledge in FUEL versus CON. Analyses of the seven-day prospective weighed food record and questions related to sports nutrition habits, suggested weak evidence for improvements in FUEL versus CON. The FUEL intervention improved sports nutrition knowledge and suggested weak evidence for improved sports nutrition behavior in female endurance athletes with symptoms of REDs.
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| 10. |
- Fahrenholtz, Ida Lysdahl, et al.
(författare)
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Risk of Low Energy Availability, Disordered Eating, Exercise Addiction, and Food Intolerances in Female Endurance Athletes
- 2022
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Ingår i: Frontiers in Sports and Active Living. - : Frontiers Media S.A.. - 2624-9367. ; 4
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Tidskriftsartikel (refereegranskat)abstract
- Relative energy deficiency in sport (RED-S) is a complex syndrome describing health and performance consequences of low energy availability (LEA) and is common among female endurance athletes. Various underlying causes of LEA have been reported, including disordered eating behavior (DE), but studies investigating the association with exercise addiction and food intolerances are lacking. Therefore, the aim of this cross-sectional study was to investigate the association between DE, exercise addiction and food intolerances in athletes at risk of LEA compared to those with low risk. Female endurance athletes, 18-35 years, training >= 5 times/week were recruited in Norway, Sweden, Ireland, and Germany. Participants completed an online-survey comprising the LEA in Females Questionnaire (LEAF-Q), Exercise Addiction Inventory (EAI), Eating Disorder Examination Questionnaire (EDE-Q), and questions regarding food intolerances. Of the 202 participants who met the inclusion criteria and completed the online survey, 65% were at risk of LEA, 23% were at risk of exercise addiction, and 21% had DE. Athletes at risk of LEA had higher EDE-Q and EAI scores compared to athletes with low risk. EAI score remained higher in athletes with risk of LEA after excluding athletes with DE. Athletes at risk of LEA did not report more food intolerances (17 vs. 10%, P = 0.198), but were more frequently reported by athletes with DE (28 vs. 11%, P = 0.004). In conclusion, these athletes had a high risk of LEA, exercise addiction, and DE. Exercise addiction should be considered as an additional risk factor in the prevention, early detection, and targeted treatment of RED-S among female endurance athletes.
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