| 1. |
- Locke, Adam E, et al.
(författare)
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Genetic studies of body mass index yield new insights for obesity biology.
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401
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Tidskriftsartikel (refereegranskat)abstract
- Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
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| 2. |
- Middeldorp, Christel M., et al.
(författare)
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The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia : design, results and future prospects
- 2019
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Ingår i: European Journal of Epidemiology. - : Springer Science and Business Media LLC. - 0393-2990 .- 1573-7284. ; 34:3, s. 279-300
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Tidskriftsartikel (refereegranskat)abstract
- The impact of many unfavorable childhood traits or diseases, such as low birth weight and mental disorders, is not limited to childhood and adolescence, as they are also associated with poor outcomes in adulthood, such as cardiovascular disease. Insight into the genetic etiology of childhood and adolescent traits and disorders may therefore provide new perspectives, not only on how to improve wellbeing during childhood, but also how to prevent later adverse outcomes. To achieve the sample sizes required for genetic research, the Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia were established. The majority of the participating cohorts are longitudinal population-based samples, but other cohorts with data on early childhood phenotypes are also involved. Cohorts often have a broad focus and collect(ed) data on various somatic and psychiatric traits as well as environmental factors. Genetic variants have been successfully identified for multiple traits, for example, birth weight, atopic dermatitis, childhood BMI, allergic sensitization, and pubertal growth. Furthermore, the results have shown that genetic factors also partly underlie the association with adult traits. As sample sizes are still increasing, it is expected that future analyses will identify additional variants. This, in combination with the development of innovative statistical methods, will provide detailed insight on the mechanisms underlying the transition from childhood to adult disorders. Both consortia welcome new collaborations. Policies and contact details are available from the corresponding authors of this manuscript and/or the consortium websites.
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| 3. |
- Amare, Azmeraw T, et al.
(författare)
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Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study.
- 2018
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Ingår i: JAMA psychiatry. - : American Medical Association (AMA). - 2168-6238 .- 2168-622X. ; 75:1, s. 65-74
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Tidskriftsartikel (refereegranskat)abstract
- Lithium is a first-line mood stabilizer for the treatment of bipolar affective disorder (BPAD). However, the efficacy of lithium varies widely, with a nonresponse rate of up to 30%. Biological response markers are lacking. Genetic factors are thought to mediate treatment response to lithium, and there is a previously reported genetic overlap between BPAD and schizophrenia (SCZ).To test whether a polygenic score for SCZ is associated with treatment response to lithium in BPAD and to explore the potential molecular underpinnings of this association.A total of 2586 patients with BPAD who had undergone lithium treatment were genotyped and assessed for long-term response to treatment between 2008 and 2013. Weighted SCZ polygenic scores were computed at different P value thresholds using summary statistics from an international multicenter genome-wide association study (GWAS) of 36989 individuals with SCZ and genotype data from patients with BPAD from the Consortium on Lithium Genetics. For functional exploration, a cross-trait meta-GWAS and pathway analysis was performed, combining GWAS summary statistics on SCZ and response to treatment with lithium. Data analysis was performed from September 2016 to February 2017.Treatment response to lithium was defined on both the categorical and continuous scales using the Retrospective Criteria of Long-Term Treatment Response in Research Subjects with Bipolar Disorder score. The effect measures include odds ratios and the proportion of variance explained.Of the 2586 patients in the study (mean [SD] age, 47.2 [13.9] years), 1478 were women and 1108 were men. The polygenic score for SCZ was inversely associated with lithium treatment response in the categorical outcome, at a threshold P<5×10-2. Patients with BPAD who had a low polygenic load for SCZ responded better to lithium, with odds ratios for lithium response ranging from 3.46 (95% CI, 1.42-8.41) at the first decile to 2.03 (95% CI, 0.86-4.81) at the ninth decile, compared with the patients in the 10th decile of SCZ risk. In the cross-trait meta-GWAS, 15 genetic loci that may have overlapping effects on lithium treatment response and susceptibility to SCZ were identified. Functional pathway and network analysis of these loci point to the HLA antigen complex and inflammatory cytokines.This study provides evidence for a negative association between high genetic loading for SCZ and poor response to lithium in patients with BPAD. These results suggest the potential for translational research aimed at personalized prescribing of lithium.
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| 4. |
- Andersson, Åsa, et al.
(författare)
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Adverse events in nursing : a retrospective study of reports of patient and relative experiences
- 2015
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Ingår i: International Nursing Review. - : International Council of Nurses. - 0020-8132 .- 1466-7657. ; 62:3, s. 377-385
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Tidskriftsartikel (refereegranskat)abstract
- Patient safety is an important global issue. While it is well known that patients can suffer from adverse events in nursing care, there is a lack of knowledge as to how they experience them. The aim was to examine adverse events in nursing care as they are experienced by patients and relatives. This was a retrospective study taking both a qualitative and quantitative approach. It was based on data regarding 242 adverse events in nursing care, as reported by patients and relatives to Sweden's Medical Responsibility Board, content analysis was used to analys the reports. Patients' and relatives' experiences were analysed into four categories of adverse events, as concerning participation, clinical judgement, nursing intervention and the essentials of care. The reports were classified by the Medical Responsibility Board, without a standardized system. The adverse events reported were few in number and were reported by patients and relatives only. Lack of participation has negative consquences and contributes to adverse events. Adverse events occur through missed care as well as through carer errors. Nurses need to improve their skills that support patient participation. Patient participation needs to be incorporated into nurses' duties. Resources for patients to participate in their own care needs to be a priority underpinning policy-making in health systems. Nursing education systems need to teach students about the value and benefits of involving patients in their care.
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| 5. |
- Andersson, Åsa, et al.
(författare)
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Factors contributing to serious adverse events in nursing homes
- 2018
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Ingår i: Journal of Clinical Nursing. - : John Wiley & Sons. - 0962-1067 .- 1365-2702. ; 27:1-2, s. e354-e362
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Tidskriftsartikel (refereegranskat)abstract
- AIMS AND OBJECTIVES: The aim of this study was to identify the most common serious adverse events that occurred in nursing homes and their most frequent contributing factors to contribute to improvement of safe nursing care. BACKGROUND: There is a need to improve safe nursing care in nursing homes. Residents are often frail and vulnerable with extensive needs for nursing care. A relatively minor adverse event in nursing care can cause serious injury that could have been preventable. DESIGN: This was a retrospective study, with a total sample of data regarding adverse events (n=173) in nursing homes, concerning nursing care reported by health care providers in Sweden to the Health and Social Care Inspectorate. The reports were analysed with content analysis and the frequencies of the adverse events, and their contributing factors, were described with descriptive statistics. RESULTS: Medication errors, falls, delayed or inappropriate intervention and missed nursing care caused the vast majority (89%) of the serious adverse events. A total of 693 possible contributing factors were identified. The most common contributing factors were 1) lack of competence 2) incomplete, or lack of documentation 3) teamwork failure 4) and inadequate communication. CONCLUSIONS: The contributing factors frequently interacted yet they varied between different groups of serious adverse events. The resident's safety depends on the availability of staff's competence as well as adequate documentation about the resident's condition. Lack of competence was underestimated by health care providers. RELEVANCE TO CLINICAL PRACTICE: Registered Nurses and assistant nurses need to have awareness of contributing factors to adverse events in nursing care. A holistic approach to improve patient safety in nursing homes requires competence of the staff, safe environments as well as resident's and relative's participation. This article is protected by copyright. All rights reserved.
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| 6. |
- Bolhuis, Koen, et al.
(författare)
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Disentangling Heterogeneity of Childhood Disruptive Behavior Problems Into Dimensions and Subgroups
- 2017
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Ingår i: Journal of the American Academy of Child and Adolescent Psychiatry. - : Elsevier. - 0890-8567 .- 1527-5418. ; 56:8, s. 678-686
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Irritable and oppositional behaviors are increasingly considered as distinct dimensions of oppositional defiant disorder. However, few studies have explored this multidimensionality across the broader spectrum of disruptive behavior problems (DBPs). This study examined the presence of dimensions and distinct subgroups of childhood DBPs, and the cross-sectional and longitudinal associations between these dimensions.Method: Using factor mixture models (FMMs), the presence of dimensions and subgroups of DBPs was assessed in the Generation R Study at ages 6 (n = 6,209) and 10 (n = 4,724) years. Replications were performed in two population-based cohorts (Netherlands Twin Registry, n = 4,402, and Swedish Twin Study of Child and Adolescent Development, n = 1,089) and a clinical sample (n = 1,933). We used cross-lagged modeling in the Generation R Study to assess cross-sectional and longitudinal associations between dimensions. DBPs were assessed using mother-reported responses to the Child Behavior Checklist.Results: Empirically obtained dimensions of DBPs were oppositional behavior (age 6 years), disobedient behavior, rule-breaking behavior (age 10 years), physical aggression, and irritability (both ages). FMMs suggested that one-class solutions had the best model fit for all dimensions in all three population-based cohorts. Similar results were obtained in the clinical sample. All three dimensions, including irritability, predicted subsequent physical aggression (range, 0.08-0.16).Conclusion: This study showed that childhood DBPs should be regarded as a multidimensional phenotype rather than comprising distinct subgroups. Incorporating multidimensionality will improve diagnostic accuracy and refine treatment. Future studies need to address the biological validity of the DBP dimensions observed in this study; herein lies an important opportunity for neuro-imaging and genetic measures.
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| 7. |
- Elmqvist, Carina, et al.
(författare)
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Patients' strategies to deal with their situation at an emergency department
- 2015
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Ingår i: Scandinavian Journal of Caring Sciences. - : Wiley. - 0283-9318 .- 1471-6712. ; 29:1, s. 145-151
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Tidskriftsartikel (refereegranskat)abstract
- IntroductionThe care in the emergency department (ED) is often characterised by high standards of efficiency and rapid treatment and the encounter between patient and staff can be described as both short and fragmented. Research within this field has mostly been performed with quantitative measurements and patients are both satisfied and vulnerable in their care at an ED. There is a lack of qualitative studies about patient's strategies to deal with their situation. AimThe aim was to describe patient's strategies for dealing with their situation at an ED. MethodsSecondary analysis has been made of 13 qualitative interviews grounded in a lifeworld perspective. The interviews were analysed by qualitative content analysis. ResultsThe results showed that patients' strategies to deal with the situation at the ED are passive or active. The passive strategy is being patient and the active strategies varied in terms of having hidden tactics, using visible tactics and using families as support. ConclusionThese findings increase the importance of gaining knowledge about these strategies so that the staff at the ED can support the patients so they do not have to use them.
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| 8. |
- Falk, A. -C, et al.
(författare)
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Barriers in achieving patient participation in the critical care unit
- 2019
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Ingår i: Intensive & Critical Care Nursing. - : Elsevier. - 0964-3397 .- 1532-4036. ; 51, s. 15-19
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: Patient participation in healthcare is important for optimizing treatment outcomes and for ensuring satisfaction with care. Therefore, this study aims to identify barriers to patient participation in the critical care unit, as identified by critical care nurses. Design and settings: Qualitative data were collected in four focus group interviews with 17 nurses from two separate hospitals. The interviews were analyzed using qualitative content analysis. Findings: The results show three main categories: nurse's attitude toward caring, the organization of the critical care unit and the patient's health condition. Conclusion: Barriers for patient participation in the ICU were found and this lead to a power imbalance between patient and nurse. In contrast to other care settings, this imbalance could be a consequence of the critical care organization and its degree of highly specialized care. The clinical application of our results is that these barriers should be considered when implementing patient participation in such a highly technological care situation as a critical care unit. (C) 2018 Elsevier Ltd. All rights reserved.
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| 9. |
- Frank, Catharina, 1961-, et al.
(författare)
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Healthcare professionals’ perceptions of their work with patients of working age with heart failure
- 2018
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Ingår i: Nordic journal of nursing research. - : SAGE Publications Ltd. - 2057-1585 .- 2057-1593. ; 38:3, s. 160-166
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Tidskriftsartikel (refereegranskat)abstract
- There is a lack of knowledge about healthcare professionals’ perspectives on rehabilitation in relation to heart failure. Still, collaboration between different professionals can impact patients. The purpose of this study was to describe healthcare professionals’ perceptions of their work with patients of working age with heart failure. The sample population consisted of six nurses, one physiotherapist and one cardiologist. One individual interview and two focus-group interviews were conducted. The interviews were analyzed using qualitative content analysis. Three descriptive categories were constructed: ‘the impact of heart failure on patients’ life situations’, ‘heart failure service’, and ‘patients’ process of returning to work’. To support patients, healthcare professionals need to find ways to combine patients’ personal needs with protocol-driven care. © The Author(s) 2017.
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| 10. |
- Frank, Catharina, et al.
(författare)
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Social insurance administrative officers’ perceptions of their assignment and problematic issues in their work with heart failure clients in the sick-leave and rehabilitation process
- 2015
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Ingår i: Nordic Social Work Research. - 2156-857X .- 2156-8588. ; 5:2, s. 173-188
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Tidskriftsartikel (refereegranskat)abstract
- This article explores social insurance administrative officers’ (AOs’) perceptions of the sick-leave process for heart failure clients. The work situation and the sick-leave process for people with heart failure tend to be complex and problematic. The problems are often caused by a lack of understanding from professionals, such as social insurance AOs. The study draws on two focus group interviews with social insurance AOs from two different social insurance agencies. The interviews were guided by an open approach, and analysis was performed on the interviews’ manifest content through a qualitative content analysis. The findings demonstrate that the AOs were concerned about the clients’ ability to return to work, but they were hindered in fulfilling their duties through insufficient collaboration with physicians and unclear sickness certificates. There seems to be a gap between the AOs’ assignment and their ability to make well-founded decisions about their clients’ ability to work. This can have consequences for the individual who lives with heart failure. In the sociopolitical agenda of Sweden, this can have consequences for the development of collaboration between AOs and the medical experts who provide the foundations for decisions about work ability of the client with heart failure.
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| 11. |
- Gustavell, Tina, et al.
(författare)
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Symptoms and self-care following pancreaticoduodenectomy : Perspectives from patients and healthcare professionals - Foundation for an interactive ICT application
- 2017
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Ingår i: European Journal of Oncology Nursing. - : Elsevier. - 1462-3889 .- 1532-2122. ; 26, s. 36-41
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Tidskriftsartikel (refereegranskat)abstract
- PurposePoor prognosis and a problematic recovery period after pancreaticoduodenectomy means that patients may benefit from early detection of symptoms and support for self-management. Interactive Information and Communication Technology tools can be used for this purpose, but the content needs to be relevant to patients as well as healthcare professionals. To facilitate development of the content of an application for this purpose, the aim of this study was to explore common symptoms and self-care in the first six months after pancreaticoduodenectomy, as identified by patients and healthcare professionals.MethodData were collected through individual interviews with patients (n = 14), along with two focus group interviews and one individual interview with healthcare professionals (n = 10). Data were analysed using qualitative content analysis.ResultsCommon symptoms after surgery were those related to eating, bowel function and emotional wellbeing, along with fatigue and pain. Some self-care activities and advice were mentioned in the interviews. The patients often experienced a lack of advice on self-care at discharge.ConclusionsThe results render knowledge of the symptoms it is important to be aware of and to assess regularly after pancreaticoduodenectomy. The results also contribute to knowledge about specific self-care related to these symptoms, even though it was not extensively described, and further research is needed to define evidence-based self-care advice.
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| 12. |
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| 13. |
- Hou, Liping, et al.
(författare)
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Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder.
- 2016
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Ingår i: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 25:15, s. 3383-94
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Tidskriftsartikel (refereegranskat)abstract
- Bipolar disorder (BD) is a genetically complex mental illness characterized by severe oscillations of mood and behavior. Genome-wide association studies (GWAS) have identified several risk loci that together account for a small portion of the heritability. To identify additional risk loci, we performed a two-stage meta-analysis of >9 million genetic variants in 9,784 bipolar disorder patients and 30,471 controls, the largest GWAS of BD to date. In this study, to increase power we used ∼2,000 lithium-treated cases with a long-term diagnosis of BD from the Consortium on Lithium Genetics, excess controls, and analytic methods optimized for markers on the X-chromosome. In addition to four known loci, results revealed genome-wide significant associations at two novel loci: an intergenic region on 9p21.3 (rs12553324, p=5.87×10(-9); odds ratio=1.12) and markers within ERBB2 (rs2517959, p=4.53×10(-9); odds ratio=1.13). No significant X-chromosome associations were detected and X-linked markers explained very little BD heritability. The results add to a growing list of common autosomal variants involved in BD and illustrate the power of comparing well-characterized cases to an excess of controls in GWAS.
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| 14. |
- Hälleberg Nyman, Maria, 1968-, et al.
(författare)
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Patients' Perspective on Participation in Care With or Without the Support of a Smartphone App During Radiotherapy for Prostate Cancer : Qualitative Study
- 2017
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Ingår i: JMIR mhealth and uhealth. - : JMIR Publications. - 2291-5222. ; 5:7
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Patients with prostate cancer are often cared for as outpatients during radiotherapy, which can be an aggravating circumstance for patient participation. There is a need to evaluate whether an interactive smartphone app could enable participation in care, specifically during treatment for prostate cancer. The interactive app (Interaktor) used in this study is developed in codesign with patients and health care professionals; it includes daily reports of symptoms, a risk assessment model, evidence-based self-care advice, along with the provision of immediate access to clinicians.OBJECTIVE: The aim of this study was to explore how patients with prostate cancer perceived their participation with or without the support of the smartphone app during radiotherapy.METHODS: A total of 28 prostate cancer patients receiving adjuvant radiotherapy were interviewed about their perceived participation in their own care. All the patients interviewed in this study participated in an intervention study where the control group received standard care that comprised having access to a contact nurse to turn to with any concerns during their treatment. In addition to standard care, the patients in the intervention group received the app downloaded in a smartphone. The patients' age ranged between 57 and 77 years; 17 patients used the smartphone app. The interviews were analyzed with directed qualitative content analysis.RESULTS: The four dimensions of patient participation, which include mutual participation, fight for participation, requirement for participation, and participation in getting basic needs satisfied, were confirmed as valid perspectives in the interviews with the patients with prostate cancer, irrespective of whether they used the smartphone app. However, the patients who had used the smartphone app described it as a facilitating factor, especially for mutual participation.CONCLUSIONS: Using innovative ways to communicate with patients, such as an interactive app for symptom management with contact with health care in real time, can successfully help achieve increased patient participation in care.
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| 15. |
- Jelenkovic, Aline, et al.
(författare)
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Associations between birth size and later height from infancy through adulthood : An individual based pooled analysis of 28 twin cohorts participating in the CODATwins project
- 2018
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Ingår i: Early Human Development. - : Elsevier BV. - 0378-3782 .- 1872-6232. ; 120, s. 53-60
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Tidskriftsartikel (refereegranskat)abstract
- Background: There is evidence that birth size is positively associated with height in later life, but it remains unclear whether this is explained by genetic factors or the intrauterine environment. Aim: To analyze the associations of birth weight, length and ponderal index with height from infancy through adulthood within mono- and dizygotic twin pairs, which provides insights into the role of genetic and environmental individual-specific factors. Methods: This study is based on the data from 28 twin cohorts in 17 countries. The pooled data included 41,852 complete twin pairs (55% monozygotic and 45% same-sex dizygotic) with information on birth weight and a total of 112,409 paired height measurements at ages ranging from 1 to 69 years. Birth length was available for 19,881 complete twin pairs, with a total of 72,692 paired height measurements. The association between birth size and later height was analyzed at both the individual and within-pair level by linear regression analyses. Results: Within twin pairs, regression coefficients showed that a 1-kg increase in birth weight and a 1-cm increase in birth length were associated with 1.14–4.25 cm and 0.18–0.90 cm taller height, respectively. The magnitude of the associations was generally greater within dizygotic than within monozygotic twin pairs, and this difference between zygosities was more pronounced for birth length. Conclusion: Both genetic and individual-specific environmental factors play a role in the association between birth size and later height from infancy to adulthood, with a larger role for genetics in the association with birth length than with birth weight.
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| 16. |
- Kalman, Janos L, et al.
(författare)
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Investigating polygenic burden in age at disease onset in bipolar disorder: Findings from an international multicentric study.
- 2019
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Ingår i: Bipolar disorders. - : Wiley. - 1399-5618 .- 1398-5647. ; 21:1, s. 68-75
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Tidskriftsartikel (refereegranskat)abstract
- Bipolar disorder (BD) with early disease onset is associated with an unfavorable clinical outcome and constitutes a clinically and biologically homogenous subgroup within the heterogeneous BD spectrum. Previous studies have found an accumulation of early age at onset (AAO) in BD families and have therefore hypothesized that there is a larger genetic contribution to the early-onset cases than to late onset BD. To investigate the genetic background of this subphenotype, we evaluated whether an increased polygenic burden of BD- and schizophrenia (SCZ)-associated risk variants is associated with an earlier AAO in BD patients.A total of 1995 BD type 1 patients from the Consortium of Lithium Genetics (ConLiGen), PsyCourse and Bonn-Mannheim samples were genotyped and their BD and SCZ polygenic risk scores (PRSs) were calculated using the summary statistics of the Psychiatric Genomics Consortium as a training data set. AAO was either separated into onset groups of clinical interest (childhood and adolescence [≤18years] vs adulthood [>18years]) or considered as a continuous measure. The associations between BD- and SCZ-PRSs and AAO were evaluated with regression models.BD- and SCZ-PRSs were not significantly associated with age at disease onset. Results remained the same when analyses were stratified by site of recruitment.The current study is the largest conducted so far to investigate the association between the cumulative BD and SCZ polygenic risk and AAO in BD patients. The reported negative results suggest that such a polygenic influence, if there is any, is not large, and highlight the importance of conducting further, larger scale studies to obtain more information on the genetic architecture of this clinically relevant phenotype.
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| 17. |
- Lewczuk, Piotr, et al.
(författare)
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Cerebrospinal fluid and blood biomarkers for neurodegenerative dementias: An update of the Consensus of the Task Force on Biological Markers in Psychiatry of the World Federation of Societies of Biological Psychiatry.
- 2018
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Ingår i: The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry. - : Informa UK Limited. - 1814-1412. ; 19:4, s. 244-328
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Tidskriftsartikel (refereegranskat)abstract
- In the 12 years since the publication of the first Consensus Paper of the WFSBP on biomarkers of neurodegenerative dementias, enormous advancement has taken place in the field, and the Task Force takes now the opportunity to extend and update the original paper. New concepts of Alzheimer's disease (AD) and the conceptual interactions between AD and dementia due to AD were developed, resulting in two sets for diagnostic/research criteria. Procedures for pre-analytical sample handling, biobanking, analyses and post-analytical interpretation of the results were intensively studied and optimised. A global quality control project was introduced to evaluate and monitor the inter-centre variability in measurements with the goal of harmonisation of results. Contexts of use and how to approach candidate biomarkers in biological specimens other than cerebrospinal fluid (CSF), e.g. blood, were precisely defined. Important development was achieved in neuroimaging techniques, including studies comparing amyloid-β positron emission tomography results to fluid-based modalities. Similarly, development in research laboratory technologies, such as ultra-sensitive methods, raises our hopes to further improve analytical and diagnostic accuracy of classic and novel candidate biomarkers. Synergistically, advancement in clinical trials of anti-dementia therapies energises and motivates the efforts to find and optimise the most reliable early diagnostic modalities. Finally, the first studies were published addressing the potential of cost-effectiveness of the biomarkers-based diagnosis of neurodegenerative disorders.
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| 18. |
- Ried, Janina S., et al.
(författare)
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A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes. We performed genome-wide association analyses for each body shape composite phenotype across 65 studies and meta-analysed summary statistics. We identify six novel loci: LEMD2 and CD47 for AvPC1, RPS6KA5/C14orf159 and GANAB for AvPC3, and ARL15 and ANP32 for AvPC4. Our findings highlight the value of using multiple traits to define complex phenotypes for discovery, which are not captured by single-trait analyses, and may shed light onto new pathways.
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| 19. |
- Schandl, Anna, et al.
(författare)
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Patient participation in the intensive care unit
- 2017
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Ingår i: Intensive & Critical Care Nursing. - : Elsevier. - 0964-3397 .- 1532-4036. ; 42, s. 105-109
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Patient participation in healthcare is important for optimizing treatment outcomes and for ensuring satisfaction with care. The purpose of the study wasto explore critical care nurses' perceptions of patient participation for critically ill patients. Design and settings: Qualitative data were collected in four separate focus group interviews with 17 nurses from two hospitals. The interviews were analyzed using qualitative content analysis. Findings: Initially, the nurses stated that patient participation in the intensive care unit (ICU) was dependent on the patient's health condition and consciousness. However, during the interviews three descriptive categories emerged from their experience, that is: passive patient participation, one-way communication and nurse/patient interaction. Conclusion: In the ICU, the possibilities for patient participation in nursing care are not only dependent on the patient's health condition but also on the nurse's ability to include patients in various care actions despite physical and/or mental limitations. When the patient is not able to participate, nurses strive to achieve participation through relatives' knowledge and/or other external sources of information. (c) 2017 Elsevier Ltd. All rights reserved.
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| 20. |
- Semb, Gunvor, et al.
(författare)
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A Scandcleft randomised trials of primary surgery for unilateral cleft lip and palate: 1. Planning and management.
- 2017
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Ingår i: Journal of Plastic Surgery and Hand Surgery. - : Taylor & Francis. - 2000-656X .- 2000-6764. ; 51:1, s. 2-13
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND AND AIMS: Longstanding uncertainty surrounds the selection of surgical protocols for the closure of unilateral cleft lip and palate, and randomised trials have only rarely been performed. This paper is an introduction to three randomised trials of primary surgery for children born with complete unilateral cleft lip and palate (UCLP). It presents the protocol developed for the trials in CONSORT format, and describes the management structure that was developed to achieve the long-term engagement and commitment required to complete the project.METHOD: Ten established national or regional cleft centres participated. Lip and soft palate closure at 3-4 months, and hard palate closure at 12 months served as a common method in each trial. Trial 1 compared this with hard palate closure at 36 months. Trial 2 compared it with lip closure at 3-4 months and hard and soft palate closure at 12 months. Trial 3 compared it with lip and hard palate closure at 3-4 months and soft palate closure at 12 months. The primary outcomes were speech and dentofacial development, with a series of perioperative and longer-term secondary outcomes.RESULTS: Recruitment of 448 infants took place over a 9-year period, with 99.8% subsequent retention at 5 years.CONCLUSION: The series of reports that follow this introductory paper include comparisons at age 5 of surgical outcomes, speech outcomes, measures of dentofacial development and appearance, and parental satisfaction. The outcomes recorded and the numbers analysed for each outcome and time point are described in the series.TRIAL REGISTRATION: ISRCTN29932826.
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| 21. |
- Shungin, Dmitry, et al.
(författare)
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New genetic loci link adipose and insulin biology to body fat distribution.
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 187-378
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Tidskriftsartikel (refereegranskat)abstract
- Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.
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| 22. |
- Sundberg, Kay, et al.
(författare)
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Early detection and management of symptoms using an interactive smartphone application (Interaktor) during radiotherapy for prostate cancer
- 2017
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Ingår i: Supportive Care in Cancer. - : Springer. - 0941-4355 .- 1433-7339. ; 25:7, s. 2195-2204
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Patients undergoing radiotherapy for prostate cancer suffer from a variety of symptoms which influence health-related quality of life. We have developed an application (Interaktor) for smartphones and tablets for early detection, reporting and management of symptoms, and concerns during treatment for prostate cancer. The study evaluates the effect on symptom burden and quality of life when using the application for real-time symptom assessment and management during radiotherapy for localized prostate cancer.Methods: A non-randomized controlled study was used at two university hospitals in Sweden where 64 patients constituted a control group and 66 patients made up an intervention group. The intervention group was asked to report symptoms via the application daily during the treatment as well as 3 weeks after. The EORTC QLQ-C30 and its module PR25 and the Sense of Coherence questionnaire were administered at three time points in both groups.Results: The intervention group rated significantly lower levels of fatigue and nausea at the end of radiotherapy. Moreover, they had significantly less burden in emotional functioning, insomnia, and urinary-related symptoms at the end of treatment as well as 3 months later compared with the control group. In the multivariate analyses, with education and sense of coherence as covariates, the intervention group still significantly rated emotional functioning (p = 0.007), insomnia (p = 0.017), and urinary-related symptoms (p = 0.008) as better than the control group at T2.Conclusion: Study findings suggest that Interaktor could be an efficient mHealth tool for facilitating supportive care needs during cancer treatment.
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| 23. |
- Veldwijk, Jorien, et al.
(författare)
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How psychological distance of a study sample in discrete choice experiments affects preference measurement : a colorectal cancer screening case study
- 2019
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Ingår i: Patient Preference and Adherence. - : DOVE MEDICAL PRESS LTD. - 1177-889X. ; 13, s. 273-282
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: The purpose of this study was to investigate to what extent the outcomes of a discrete choice experiment (DCE) differ based on respondents' psychological distance to the decision at hand. Methods: A DCE questionnaire regarding individuals' preferences for genetic screening for colorectal cancer (CRC) within the Dutch national CRC screening program was created. The DCE contained nine D-efficient designed choice tasks and was distributed among two populations that differ in their psychological distance to the decision at hand: 1) a representative sample of the Dutch general population aged 55-65 years, and 2) a sample of Dutch individuals who attended an information appointment regarding colonoscopies following the detection of blood in their stool sample in the CRC screening program. The DCE consisted of four attributes related to the decision whether to participate in genetic screening for CRC: 1) risk of being genetically predisposed, 2) risk of developing CRC, 3) frequency of follow-up colonoscopies, and 4) survival. Direct attribute ranking, dominant decision-making behavior, and relative importance scores (based on panel MIXL) were compared between the two populations. Attribute level estimates were compared with the Swait and Louviere test. Results: The proportion of respondents who both ranked survival as the most important attribute, and showed dominant decision-making behavior for this attribute, was significantly higher in the screened population compared to the general population. The relative importance scores of the attributes significantly differed between populations. Finally, the Swait and Louviere test also revealed significant differences in attribute level estimates in both the populations. Conclusion: The study outcomes differed between populations depending on their psychological distance to the decision. This study shows the importance of adequate sample selection; therefore, it is advocated to increase attention to study sample selection and reporting in DCE studies.
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| 24. |
- Yokoyama, Yoshie, et al.
(författare)
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Genetic and environmental factors affecting birth size variation : A pooled individual-based analysis of secular trends and global geographical differences using 26 twin cohorts
- 2018
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Ingår i: International Journal of Epidemiology. - : Oxford University Press (OUP). - 0300-5771 .- 1464-3685. ; 47:4, s. 1195-1206
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Tidskriftsartikel (refereegranskat)abstract
- Background: The genetic architecture of birth size may differ geographically and over time. We examined differences in the genetic and environmental contributions to birthweight, length and ponderal index (PI) across geographical-cultural regions (Europe, North America and Australia, and East Asia) and across birth cohorts, and how gestational age modifies these effects. Methods: Data from 26 twin cohorts in 16 countries including 57 613 monozygotic and dizygotic twin pairs were pooled. Genetic and environmental variations of birth size were estimated using genetic structural equation modelling. Results: The variance of birthweight and length was predominantly explained by shared environmental factors, whereas the variance of PI was explained both by shared and unique environmental factors. Genetic variance contributing to birth size was small. Adjusting for gestational age decreased the proportions of shared environmental variance and increased the propositions of unique environmental variance. Genetic variance was similar in the geographical-cultural regions, but shared environmental variance was smaller in East Asia than in Europe and North America and Australia. The total variance and shared environmental variance of birth length and PI were greater from the birth cohort 1990-99 onwards compared with the birth cohorts from 1970-79 to 1980-89. Conclusions: The contribution of genetic factors to birth size is smaller than that of shared environmental factors, which is partly explained by gestational age. Shared environmental variances of birth length and PI were greater in the latest birth cohorts and differed also across geographical-cultural regions. Shared environmental factors are important when explaining differences in the variation of birth size globally and over time.
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