| 1. |
|
|
| 2. |
- Nordin, Angelica, et al.
(författare)
-
Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD
- 2015
-
Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 24:11, s. 3133-3142
-
Tidskriftsartikel (refereegranskat)abstract
- A GGGGCC-repeat expansion in C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) among Caucasians. However, little is known about the variability of the GGGGCC expansion in different tissues and whether this correlates with the observed phenotype. Here, we used Southern blotting to estimate the size of hexanucleotide expansions in C9orf72 in neural and non-neural tissues from 18 autopsied ALS and FTD patients with repeat expansion in blood. Digitalization of the Southern blot images allowed comparison of repeat number, smear distribution and expansion band intensity between tissues and between patients. We found marked intra-individual variation of repeat number between tissues, whereas there was less variation within each tissue group. In two patients, the size variation between tissues was extreme, with repeat numbers below 100 in all studied non-neural tissues, whereas expansions in neural tissues were 20-40 times greater and in the same size range observed in neural tissues of the other 16 patients. The expansion pattern in different tissues could not distinguish between diagnostic groups and no correlation was found between expansion size in frontal lobe and occurrence of cognitive impairment. In ALS patients, a less number of repeats in the cerebellum and parietal lobe correlated with earlier age of onset and a larger number of repeats in the parietal lobe correlated with a more rapid progression. In 43 other individuals without repeat expansion in blood, we find that repeat sizes up to 15 are stable, as no size variation between blood, brain and spinal cord was found.
|
|
| 3. |
- Nordin, Angelica, et al.
(författare)
-
Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation : a large multinational screening study
- 2017
-
Ingår i: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. - : Informa UK Limited. - 2167-8421 .- 2167-9223. ; 18:3-4, s. 256-264
-
Tidskriftsartikel (refereegranskat)abstract
- A large GGGGCC-repeat expansion mutation (HREM) in C9orf72 is the most common known cause of ALS and FTD in European populations. Sequence variations immediately downstream of the HREM region have previously been observed and have been suggested to be one reason for difficulties in interpreting RP-PCR data. Our objective was to determine the properties of these sequence variations with regard to prevalence, the range of variation, and effect on disease prognosis. We screened a multi-national cohort (n = 6981) for the HREM and samples with deviant RP-PCR curves were identified. The deviant samples were subsequently sequenced to determine sequence alteration. Our results show that in the USA and European cohorts (n = 6508) 10.7% carried the HREM and 3% had a sequence variant, while no HREM or sequence variants were observed in the Japanese cohort (n = 473). Sequence variations were more common on HREM alleles; however, certain population specific variants were associated with a non-expanded allele. In conclusion, we identified 38 different sequence variants, most located within the first 50 bp downstream of the HREM region. Furthermore, the presence of an HREM was found to be coupled to a lower age of onset and a shorter disease survival, while sequence variation did not have any correlation with these parameters.
|
|
| 4. |
- Rissanen, Ritva, 1978-
(författare)
-
Distress, Emotional reactivity and Fatigue following Breast Cancer : A Theoretical Approach and a Randomised Intervention Study
- 2014
-
Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Aim: Overall aims were to evaluate a stress management intervention with a stepped care approach among women with breast cancer and to explore distress, emotional reactivity and fatigue, both using a theoretical approach and self-reported assessment.Methods: A total of 821 women were approached, 372 women rejected participation, 23 women failed to return the questionnaire and one died, hence, 425 patients (52%) accepted participation. Study I evaluated the cognitive processing model with the aid of an untreated patient group, including 189 women according to the main study protocol. Sixty-six of these women were ineligible for the intervention, as they did not report clinical levels of distress. The remaining 123 women were eligible but they declined participation. Study II explored the validation of the ELSS and emotional reactivity among women with breast cancer. The population comprised of all 425 women (breast cancer sample) and 176 women randomly selected from the PAR register (random women sample). Studies III and IV evaluated the intervention and included all 425 women.Main findings: Study I: avoidance does not mediate the relationship between intrusion and later psychological distress in an early stage breast cancer population. Study II: the ELSS has acceptable validity and reliability. The factor structure of the ELSS was similar in both samples and correlated well with the STAQ (gold standard). Younger age was the only variable associated with emotional reactivity at the start of curative treatment. Studies III and IV: a stepped care approach did not reduce the number of women who require a more extensive treatment at three-months post-diagnosis. Both intervention groups (group/individual) reduced their levels of distress, but there were no significant differences between them. Only about half of the women who were randomised in the second step of the intervention accepted participation.Conclusions: The present thesis provides information regarding distress, emotional reactivity and fatigue among women with breast cancer. A majority of women with early stage breast cancer seem to process the trauma of a cancer diagnosis in a satisfactory way but may experience some emotional reactivity, and younger women may experience more emotional distress. The results also highlight the need for validated measures and carefully planned psychosocial interventions.
|
|
| 5. |
- Sandström, Camilla, et al.
(författare)
-
Understanding consistencies and gaps between desired forest futures : An analysis of visions from stakeholder groups in Sweden
- 2016
-
Ingår i: Ambio. - : Springer Science and Business Media LLC. - 0044-7447 .- 1654-7209. ; 45, s. S100-S108
-
Tidskriftsartikel (refereegranskat)abstract
- Conflicting perspectives on forests has for a long time challenged forest policy development in Sweden. Disagreements about forest futures create intractable deadlocks when stakeholders talk past each other. The purpose of this study is to move beyond this situation through the application of participatory backcasting. By comparing visions of the future forest among stakeholder groups, we highlight contemporary trajectories and identify changes that were conceived as desirable. We worked with four groups: the Biomass and Bioenergy group, the Conservation group, the Sami Livelihood group and the Recreation and Rural Development group; in total representatives from 40 organizations participated in workshops articulating the groups' visions. Our results show well-known tensions such as intrinsic versus instrumental values but also new ones concerning forests' social values. Identified synergies include prioritization of rural development, new valued-added forest products and diversified forest management. The results may feed directly into forest policy processes facilitating the process and break current deadlocks.
|
|
| 6. |
- Sjunnestrand, My, et al.
(författare)
-
Planting a seed - child health care nurses' perceptions of speaking to parents about overweight and obesity : a qualitative study within the STOP project
- 2019
-
Ingår i: BMC Public Health. - : Springer Science and Business Media LLC. - 1471-2458. ; 19
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Nurses in child health care (CHC) centers in Sweden play a key role in the early detection and management of childhood overweight/obesity, through meeting families early, regularly and over many years. However, research focusing on CHC nurses' perceptions of their role in childhood overweight/obesity management is scarce. As part of the EU-funded project "Science and Technology in childhood Obesity Policy" (STOP), this study examines CHC nurses' perceptions of speaking to parents about children's overweight/obesity and of their role in referring children to treatment for overweight/obesity.METHODS: All registered CHC nurses in Stockholm County (n = 442) received an email invitation letter explaining the study. Individual face-to-face visits (n = 15) in selected centers, and phone calls (n = 24) to nurses working in these centres were also conducted. In total, 17 CHC nurses (all female, average work experience 6.7 years (SD ± 4.9 years)) from 10 municipalities (including four of the top five municipalities with the highest prevalence of overweight and obesity) in Stockholm County were interviewed. The interviews were conducted by phone, transcribed and analyzed using thematic analysis.RESULTS: Two main themes were developed through the analysis: 1) The relationship between the nurse and the parent and 2) Glitch in the system. Under the first theme, nurses reported that weight-related discussions were facilitated by building and maintaining trust with parents. However, nurses also said they were reluctant to address children's weights if this could compromise parents' trust. Under the second theme, nurses highlighted several organizational barriers to addressing a child's weight with parents, including insufficient cooperation with other healthcare providers and limited time for visits. Nurses also identified lack of sufficient knowledge about what to offer the family and lack of confidence in their communication skills as additional barriers.CONCLUSIONS: We found that pediatric nurses perceive relational and organizational factors as barriers to address childhood obesity with parents. To improve care, it is necessary to provide nurses with continuing education about obesity and communication skills and organizational support to improve communication within the healthcare system.TRIAL REGISTRATION: ClinicalTrials.gov NCT03800823; 11 Jan 2019, prospectively registered.
|
|
| 7. |
|
|
| 8. |
- Andersen, Janice, et al.
(författare)
-
Illness Perception and Psychological Distress in Persons with Porphyria Cutanea Tarda
- 2016
-
Ingår i: Acta Dermato-Venereologica. - : Medical Journals Sweden AB. - 0001-5555 .- 1651-2057. ; 96:5, s. 674-678
-
Tidskriftsartikel (refereegranskat)abstract
- Porphyria cutanea tarda (PCT) requires long-term treatment and follow-up, although many patients experience life-long remission. The aim of this cross-sectional postal survey was to describe and investigate the association between illness perception, health complaints, self-reported symptoms and distress in persons with PCT. The participants perceived PCT as a chronic condition with high levels of personal and treatment control. Persons who reported active symptoms scored higher on perceived illness threat, total health complaints and psychological distress compared with those in remission or latent phases. However, a higher perception of illness threat and the total burden of health complaints were more closely associated with psychological distress than were perceived PCT symptoms activity. This has implications for clinical consultation; dermatologists should be attentive to symptoms activity, but also recognize that patients in remission with a high perceived illness threat and multiple health complaints might be especially vulnerable to psychological distress with regards to PCT.
|
|
| 9. |
- Arving, Cecilia, et al.
(författare)
-
Early rehabilitation of cancer patients : a randomized controlled intervention study
- 2013
-
Ingår i: BMC Cancer. - : Springer Science and Business Media LLC. - 1471-2407. ; 13, s. 9-
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Faced with a life-threatening illness, such as cancer, many patients develop stress symptoms, i.e. avoidance behaviour, intrusive thoughts and worry. Stress management interventions have proven to be effective; however, they are mostly performed in group settings and it is commonly breast cancer patients who are studied. We hereby present the design of a randomized controlled trial (RCT) evaluating the effectiveness and cost-effectiveness of an individual stress-management intervention with a stepped-care approach in several cancer diagnoses. Method: Patients (>= 18 years) with a recent diagnosis of breast cancer, colorectal cancer, lymphoma, prostate cancer or testicle cancer and scheduled for adjuvant/curative oncology treatment, will consecutively be included in the study. In this prospective longitudinal intervention study with a stepped-care approach, patients will be randomized to control, treatment as usual, or an individual stress-management intervention in two steps. The first step is a low-intensity stress-management intervention, given to all patients randomized to intervention. Patients who continue to report stress symptoms after the first step will thereafter be given more intensive treatment at the second step of the programme. In the intervention patients will also be motivated to be physically active. Avoidance and intrusion are the primary outcomes. According to the power analyses, 300 patients are planned to be included in the study and will be followed for two years. Other outcomes are physical activity level, sleep duration and quality recorded objectively, and anxiety, depression, quality of life, fatigue, stress in daily living, and patient satisfaction assessed using valid and standardized psychometric tested questionnaires. Utilization of hospital services will be derived from the computerized patient administration systems used by the hospital. The cost-effectiveness of the intervention will be evaluated through a cost-utility analysis. Discussion: This RCT will provide empirical evidence of whether an individually administered stress-management programme in two steps can decrease stress as well as maintain or enhance patients' physical activity level, quality of life and psychological well-being. Further, this RCT, with a stepped-care approach, will provide knowledge regarding the cost-effectiveness of an individually administered stress-management programme whose aim is to help and support individual patients at the right level of care.
|
|
| 10. |
- Arving, Cecilia, et al.
(författare)
-
Early rehabilitation of cancer patients : An individual randomized stepped-care stress-management intervention.
- 2019
-
Ingår i: Psycho-Oncology. - : Wiley. - 1057-9249 .- 1099-1611. ; 28:2, s. 301-308
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To evaluate the effects of an individual stepped-care stress-management intervention for cancer patients on cancer-related stress reactions (intrusion/avoidance), and secondarily on psychological distress (anxiety/depression) and emotional reactivity (impatience/hostility).METHODS: Consecutively 291 cancer patients were included in a randomized controlled intervention study. Patients randomized to the intervention who did not report clinically significant stress levels (n = 72) after the first counseling session participated in only one counseling session and a follow-up (Step 1). The remaining patients (n = 66) received an additional three to eight sessions, depending on individual needs (Step 2). The intervention used techniques derived from cognitive behavioral therapy (CBT) such as daily registration of events and behaviors as well as scheduled behavioral and physical activity, along with short relaxation exercises. The intervention was completed within 26 weeks of inclusion. The Impact of Event Scale, Hospital Anxiety and Depression Scale, and Everyday Life Stress Scale were used to evaluate effects for 2 years.RESULTS: The linear mixed effects model analysis showed a difference between the randomization groups in favor of the intervention for avoidance and intrusion after the first 6 weeks (P = 0.001 and P = 0.003) and for emotional reactivity after 17 weeks (P = 0.007). There were no differences in psychological distress. Decreases in cancer-related stress reactions and depression were noted for the Step 2 intervention.CONCLUSIONS: An individual stepped-care stress-management intervention for cancer patients, performed by specially educated health professionals using techniques derived from CBT, seems beneficial for cancer patients and may therefore be a realistic complement to routine cancer care.
|
|
