| 1. |
- Van Deerlin, Vivian M, et al.
(author)
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Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
- 2010
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:3, s. 234-239
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Journal article (peer-reviewed)abstract
- Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile dementia. The predominant neuropathology is FTLD with TAR DNA-binding protein (TDP-43) inclusions (FTLD-TDP). FTLD-TDP is frequently familial, resulting from mutations in GRN (which encodes progranulin). We assembled an international collaboration to identify susceptibility loci for FTLD-TDP through a genome-wide association study of 515 individuals with FTLD-TDP. We found that FTLD-TDP associates with multiple SNPs mapping to a single linkage disequilibrium block on 7p21 that contains TMEM106B. Three SNPs retained genome-wide significance following Bonferroni correction (top SNP rs1990622, P = 1.08 x 10(-11); odds ratio, minor allele (C) 0.61, 95% CI 0.53-0.71). The association replicated in 89 FTLD-TDP cases (rs1990622; P = 2 x 10(-4)). TMEM106B variants may confer risk of FTLD-TDP by increasing TMEM106B expression. TMEM106B variants also contribute to genetic risk for FTLD-TDP in individuals with mutations in GRN. Our data implicate variants in TMEM106B as a strong risk factor for FTLD-TDP, suggesting an underlying pathogenic mechanism.
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| 2. |
- Ferrari, Raffaele, et al.
(author)
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Frontotemporal dementia and its subtypes: a genome-wide association study.
- 2014
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In: Lancet Neurology. - 1474-4465. ; 13:7, s. 686-699
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Journal article (peer-reviewed)abstract
- Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72-have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder.
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| 3. |
- Jansen, Willemijn J, et al.
(author)
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Prevalence Estimates of Amyloid Abnormality Across the Alzheimer Disease Clinical Spectrum.
- 2022
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In: JAMA neurology. - : American Medical Association (AMA). - 2168-6157 .- 2168-6149. ; 79:3, s. 228-243
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Journal article (peer-reviewed)abstract
- One characteristic histopathological event in Alzheimer disease (AD) is cerebral amyloid aggregation, which can be detected by biomarkers in cerebrospinal fluid (CSF) and on positron emission tomography (PET) scans. Prevalence estimates of amyloid pathology are important for health care planning and clinical trial design.To estimate the prevalence of amyloid abnormality in persons with normal cognition, subjective cognitive decline, mild cognitive impairment, or clinical AD dementia and to examine the potential implications of cutoff methods, biomarker modality (CSF or PET), age, sex, APOE genotype, educational level, geographical region, and dementia severity for these estimates.This cross-sectional, individual-participant pooled study included participants from 85 Amyloid Biomarker Study cohorts. Data collection was performed from January 1, 2013, to December 31, 2020. Participants had normal cognition, subjective cognitive decline, mild cognitive impairment, or clinical AD dementia. Normal cognition and subjective cognitive decline were defined by normal scores on cognitive tests, with the presence of cognitive complaints defining subjective cognitive decline. Mild cognitive impairment and clinical AD dementia were diagnosed according to published criteria.Alzheimer disease biomarkers detected on PET or in CSF.Amyloid measurements were dichotomized as normal or abnormal using cohort-provided cutoffs for CSF or PET or by visual reading for PET. Adjusted data-driven cutoffs for abnormal amyloid were calculated using gaussian mixture modeling. Prevalence of amyloid abnormality was estimated according to age, sex, cognitive status, biomarker modality, APOE carrier status, educational level, geographical location, and dementia severity using generalized estimating equations.Among the 19097 participants (mean [SD] age, 69.1 [9.8] years; 10148 women [53.1%]) included, 10139 (53.1%) underwent an amyloid PET scan and 8958 (46.9%) had an amyloid CSF measurement. Using cohort-provided cutoffs, amyloid abnormality prevalences were similar to 2015 estimates for individuals without dementia and were similar across PET- and CSF-based estimates (24%; 95% CI, 21%-28%) in participants with normal cognition, 27% (95% CI, 21%-33%) in participants with subjective cognitive decline, and 51% (95% CI, 46%-56%) in participants with mild cognitive impairment, whereas for clinical AD dementia the estimates were higher for PET than CSF (87% vs 79%; mean difference, 8%; 95% CI, 0%-16%; P=.04). Gaussian mixture modeling-based cutoffs for amyloid measures on PET scans were similar to cohort-provided cutoffs and were not adjusted. Adjusted CSF cutoffs resulted in a 10% higher amyloid abnormality prevalence than PET-based estimates in persons with normal cognition (mean difference, 9%; 95% CI, 3%-15%; P=.004), subjective cognitive decline (9%; 95% CI, 3%-15%; P=.005), and mild cognitive impairment (10%; 95% CI, 3%-17%; P=.004), whereas the estimates were comparable in persons with clinical AD dementia (mean difference, 4%; 95% CI, -2% to 9%; P=.18).This study found that CSF-based estimates using adjusted data-driven cutoffs were up to 10% higher than PET-based estimates in people without dementia, whereas the results were similar among people with dementia. This finding suggests that preclinical and prodromal AD may be more prevalent than previously estimated, which has important implications for clinical trial recruitment strategies and health care planning policies.
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| 4. |
- Lin, Chung-Ying, et al.
(author)
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Psychological distress and quality of life in Iranian adolescents with overweight/obesity : mediating roles of weight bias internalization and insomnia
- 2020
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In: Eating and Weight Disorders. - : Springer. - 1124-4909 .- 1590-1262. ; 25, s. 1583-1592
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Journal article (peer-reviewed)abstract
- PURPOSE: To examine whether weight-related self-stigma (aka weight bias internalization) and insomnia are potential predictors of psychological distress and quality of life (QoL) among Iranian adolescents with overweight (OW)/obesity (OB). To examine whether weight-related self-stigma and insomnia are potential mediators in the relationship between excess weight and health outcomes of distress and QoL.METHODS: All participants (n = 934; 444 males; mean age = 15.7 ± 1.2 years; zBMI = 2.8 ± 1.0) completed questionnaires on weight-related self-stigma and insomnia at baseline. Six months later, they completed questionnaires on psychological distress and QoL to assess health outcomes. Relationships among variables were tested using mediation analyses with bootstrapping method.RESULTS: Weight-related self-stigma significantly mediated the effects of zBMI on psychological distress (effect = 0.22; bootstrapping SE = 0.09; 95% CI = 0.08, 0.45), psychosocial QoL (effect = - 0.64; bootstrapping SE = 0.19; 95% CI = - 1.10, - 0.32), and physical QoL (effect = - 1.35; bootstrapping SE = 0.54; 95% CI = - 2.43, - 0.26). Insomnia also significantly mediated the effects of zBMI on psychological distress (effect = 2.18; bootstrapping SE = 0.31; 95% CI = 1.61, 2.81), psychosocial QoL (effect = - 0.89; bootstrapping SE = 0.33; 95% CI = - 1.60, - 0.28), and physical QoL (effect = - 0.83; bootstrapping SE = 0.42; 95% CI = - 1.69, - 0.02). Full mediations were found in psychosocial QoL; partial mediations were found in psychological distress and physical QoL.CONCLUSIONS: Weight-related self-stigma and insomnia were significant mediators in the effects of excess weight on health outcomes. Therefore, it is important to identify and treat weight-related self-stigma and insomnia for adolescents with OW/OB.LEVEL OF EVIDENCE: Level V, cross-sectional descriptive study.
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| 5. |
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| 6. |
- Mårtensson, Sophie, et al.
(author)
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Bridging the Gap between Caring and Nursing Practice : Undergraduate Nursing Students Experiences of Learning Caring Behaviors with Standaradized Patients in Simulation
- 2023
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Conference paper (peer-reviewed)abstract
- Motivation & AimAlthough school of nursing curricula often refer to caring as the central core in nursing practice, students often have a gap in understanding and knowing how to intertwine caring in all aspect of nursing practice. Thus, nursing curricula often tend to focus more on developing psychomotor skills and knowledge, referred to as doing, with less concentration on how one interacts with patients. Even though there has been extensive research on simulation in nursing education there are limited studies focusing on the intentional and visible incorporation of compassionate and competent caring behavior in simulations. Therefore, the aim was to describe undergraduate nursing students’ experiences of practicing caring behaviors with a standardized patient. MethodA sample of forty-eight fourth semester undergraduate nursing students enrolled in a five-week caring behavior course at a Swedish university, were at the first and last week individually video-recorded during two caring behavior simulations with a standardized patient. After observing each of their video-recordings, students completed individual written reflection on their own verbal and nonverbal caring behavior. The written reflections were analyzed using qualitative content analysis. ConclusionSimulated encounters with standardized patients that visibly intertwine caring with nursing practice facilitates nursing students’ learning of compassionate and competent caring behaviorsThe learning experience made the students aware of the impact of practicing caring in nursing practice, recognizing that being with is not the same as doing for the patient, and thus, how challenging it is to be mindfully present in patient encountersVideo-recorded caring behavior simulations provide a feasible educational learning didactic, facilitating students’ learning to apply caring behaviors
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| 7. |
- Mårtensson, Sophie
(author)
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Bridging the gap between caring theory and nursing practice : Learning experiences of undergraduate nursing students in a caring behavior course
- 2022
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Doctoral thesis (other academic/artistic)abstract
- Background: Healthcare providers are obligated to practice with scientific knowledge in order to deliver high quality and safe care based on patients’ needs. Despite this obligation, complaints from care recipients and their significant others regarding healthcare providers’ lack of compassion and competent care in their professional encounters have increased. In the discipline of nursing, theoretical structures of caring, conceptualized as behaviors, have been established as the heart and core value of guidance in all nursing practice. In nursing education, however, caring has tended to be taught as an intangible aspect of nursing practice, described as hidden curricula, thus, focus more on developing knowledge and psychomotor skills instead of learning caring behaviors. Studies that examine how undergraduate nursing students can learn caring behaviors explicitly are rare. Thus, a stronger emphasis on the learning of caring in the context of a caring behavior course that uses a variety of learning didactics is needed. Without adequate theoretical structures for caring-based observational behavioral instruments assessing verbal and non-verbal caring and non-caring behaviors, there is little evidence to help develop the learning of caring behaviors.Aim: The overall aim of this thesis was to study how a caring behavior course in undergraduate nursing education influenced students’ learning of caring behaviors.Method: This thesis was conducted among undergraduate nursing students at a university in Sweden. The participants attended a 7.5-credit (five-week) Caring Behavior Course (the CBC) in semester four during spring and fall 2018 and spring 2019. The CBC was facilitated through a student-centered learning approach intertwined into reflective practice with the learning didactics of narrative pedagogy and simulation; it comprised six voluntary lectures, five mandatory seminars, and two mandatory caring behavior simulation days and examinations. All data were collected from the students participating in the CBC. Two of the four scientific papers constituting this thesis had a qualitative design based on focus group interviews (paper I) and individual written reflections (paper II). Analyses was conducted using qualitative content analysis. One paper had an instrument development design to develop and test an observational behavioral instrument based on Swanson’s Theory of Caring (paper III). Lastly, one paper had a quantitative observational design using the CBCS on video-recorded observational behavioral data collected in the CBC (paper IV). Analyses was conducted using descriptive statistics and Wilcoxon signed rank test (paper IV).Results: The undergraduate nursing students’ participation in the CBC influenced their learning of caring behaviors. It deepened their understanding and knowledge of caring. The students became aware that learning caring is a task that requires effort because the meaning of caring encompasses nurses’ active engagement in practicing caring behaviors. These findings are also supported through the observational behavioral instrument, through the developed Caring Behavior Coding Scheme based on Swanson’s Theory of Caring; it was found that participation in the CBC influenced the undergraduate nursing students verbal and non-verbal caring and non-caring behaviors.Conclusions: This thesis demonstrated that bridging the gap between caring theory and nursing practice in the CBC using a variety of learning didactics influenced undergraduate nursing students’ learning of caring behaviors. The results contributed to strengthening the knowledge that caring and learning are parallel processes in the undergraduate nursing students’ development into becoming compassionate and competent caring nurses, with the intended outcome of patient healing and well-being.
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| 8. |
- Mårtensson, Sophie, et al.
(author)
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Caring Behavior Coding Scheme based on Swanson’s Theory of Caring – development and testing among undergraduate nursing students
- 2021
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In: Scandinavian Journal of Caring Sciences. - : John Wiley & Sons. - 0283-9318 .- 1471-6712. ; 35:4, s. 1123-1133
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Journal article (peer-reviewed)abstract
- Rationale: To maintain patients’ dignity and well-being and alleviate suffering, it is essential that healthcare providers engage in caring behaviours. Yet, every year patient boards receive an increasing number of complaints from patients and significant others regarding healthcare providers’ non-caring behaviours. Defining and measuring both verbal and nonverbal caring and non-caring behaviour in healthcare delivery is vital to address such complaints. However, no studies were found that incorporated a comprehensive theory of caring to code encounters between healthcare providers and patients.Aim: The aim was to develop and test a Caring Behavior Coding Scheme based on Swanson’s Theory of Caring.Method: An instrument development process was used for behavioural coding including observational data from thirty-eight video recordings collected in an undergraduate nursing course at a Swedish University. The observational data involved interactions between undergraduate nursing students and a standardised patient.Result: The Caring Behavior Coding Scheme (the CBCS), contains seventeen verbal and eight nonverbal behavioural codes, categorised as caring and non-caring in accordance with Swanson’s Theory of Caring. Content and face validity were assessed. Timed-event sequential continuous coding was performed in INTERACT software. The coder achieved excellent agreement with the developed gold standard (k = 0.87) and excellent mean inter-rater reliability (k = 0.82). All domains in Swanson’s Theory of Caring were observed and coded in the interaction.Discussion/Conclusion: The CBCS is a theory-based instrument that contributes to research on healthcare providers’ behavioural encounters. It uses verbal and nonverbal caring and non-caring behavioural codes to assess the alignment of both the theory and practice of caring. The CBCS can contribute to both development and measurement of interventions focused on improving healthcare providers’ caring behaviour with the intended outcome of patient well-being.
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| 9. |
- Mårtensson, Sophie, et al.
(author)
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Development of caring behaviour in undergraduate nursing students participating in a caring behaviour course
- 2024
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In: Scandinavian Journal of Caring Sciences. - : John Wiley & Sons. - 0283-9318 .- 1471-6712. ; 38:1, s. 47-56
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Journal article (peer-reviewed)abstract
- Background: In today's complex healthcare organisations there is an increasing recognition of the need to enhance care quality and patient safety. Nurses' competence in demonstrating caring behaviour during patient encounters affects how patients experience and participate in their care. Nurse educators are faced with the challenge of balancing the demand for increasingly complex knowledge and skills with facilitating students' abilities essential to becoming compassionate and caring nurses. Aim: The aim was to describe undergraduate nursing students' development of caring behaviour while participating in a caring behaviour course. Method: This pilot study used a quantitative observational design. At a university in Sweden, video-recorded observational data from twenty-five students were collected in the first and last weeks of a full-time five-week Caring Behaviour Course (the CBC). In total, 56-min video-recorded simulation interactions between a student and a standardised patient were coded by a credentialed coder using a timed-event sequential continuous coding method based on the Caring Behaviour Coding Scheme (the CBCS). The CBCS maps the five conceptual domains described in Swanson's Theory of Caring with related sub-domains that align with Swanson's qualities of the Compassionate Healer and the Competent Practitioner. The CBCS contains seventeen verbal and eight non-verbal behavioural codes, categorised as caring or non-caring. Results: Between the two simulations, most verbal caring behaviours increased, and most non-verbal caring behaviours decreased. Statistically significant differences between the simulations occurred in the sub-domains Avoiding assumptions and Performing competently/skilfully in the quality of the Competent Practitioner. Most observed caring behaviours aligned with the Compassionate Healer. Conclusion: Generally, the students' development of caring behaviours increased while participating in the CBC. Using a structured observational behavioural coding scheme can assist educators in assessing caring behaviour both in education and in practice, supporting caring as the universal foundation of nursing and a key to patient safety.
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| 10. |
- Mårtensson, Sophie Kjerstin, et al.
(author)
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Undergraduate Nursing Students’ Experiences of Learning Caring Using a Variety of Learning Didactics
- 2022
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In: International journal for human caring. - : Springer Publishing Company. - 1091-5710 .- 2578-2304. ; 26:3, s. 145-158
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Journal article (peer-reviewed)abstract
- This study examines undergraduate nursing students’ experiences of participating in a Caring Behavior Course using various learning didactics. Twenty-five students participated in one of five focus group interviews with data analyzed according to qualitative content analysis. The main theme to emerge, an insightful and sudden awakening that caring is not only theoretical words, was further explained with three themes and nine subthemes. The Caring Behavior Course demonstrates effective learning didactics to develop awareness of values that influence caring behaviors and can contribute to patient well-being, particularly relevant for the care challenges in the time of COVID-19 and beyond.
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