| 1. |
- Franks, P. W., et al.
(författare)
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Technological readiness and implementation of genomic-driven precision medicine for complex diseases
- 2021
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Ingår i: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 290:3, s. 602-620
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Forskningsöversikt (refereegranskat)abstract
- The fields of human genetics and genomics have generated considerable knowledge about the mechanistic basis of many diseases. Genomic approaches to diagnosis, prognostication, prevention and treatment - genomic-driven precision medicine (GDPM) - may help optimize medical practice. Here, we provide a comprehensive review of GDPM of complex diseases across major medical specialties. We focus on technological readiness: how rapidly a test can be implemented into health care. Although these areas of medicine are diverse, key similarities exist across almost all areas. Many medical areas have, within their standards of care, at least one GDPM test for a genetic variant of strong effect that aids the identification/diagnosis of a more homogeneous subset within a larger disease group or identifies a subset with different therapeutic requirements. However, for almost all complex diseases, the majority of patients do not carry established single-gene mutations with large effects. Thus, research is underway that seeks to determine the polygenic basis of many complex diseases. Nevertheless, most complex diseases are caused by the interplay of genetic, behavioural and environmental risk factors, which will likely necessitate models for prediction and diagnosis that incorporate genetic and non-genetic data.
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| 2. |
- Löhr, J.-Matthias, et al.
(författare)
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Can our experience with surveillance for inherited pancreatic cancer help to identify early pancreatic cancer in the general population?
- 2024
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Ingår i: Familial Cancer. - : Springer Nature. - 1389-9600 .- 1573-7292.
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Forskningsöversikt (refereegranskat)abstract
- Screening of the general population for cancer is a matter of primary prevention reducing the burden of disease. Whilst this is successful for several cancers including breast, colon and prostate, the situation to screen and hence prevent pancreatic cancer is different. The organ is not as accessible to simple physical exam or biological samples (fecal or blood test). Neither exists a blood test such as PSA that is cost-effective. Reviewing the evidence from screening risk groups for pancreatic cancer, one must conclude that there is no rational at present to screen the general population, for a lack of appropriate tests.
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| 3. |
- Pascual, Didac, et al.
(författare)
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The missing pieces for better future predictions in subarctic ecosystems: A Torneträsk case study
- 2021
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Ingår i: Ambio. - : Springer. - 0044-7447 .- 1654-7209. ; 50:2, s. 375-392
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Forskningsöversikt (refereegranskat)abstract
- Arctic and subarctic ecosystems are experiencing substantial changes in hydrology, vegetation, permafrost conditions, and carbon cycling, in response to climatic change and other anthropogenic drivers, and these changes are likely to continue over this century. The total magnitude of these changes results from multiple interactions among these drivers. Field measurements can address the overall responses to different changing drivers, but are less capable of quantifying the interactions among them. Currently, a comprehensive assessment of the drivers of ecosystem changes, and the magnitude of their direct and indirect impacts on subarctic ecosystems, is missing. The Torneträsk area, in the Swedish subarctic, has an unrivalled history of environmental observation over 100 years, and is one of the most studied sites in the Arctic. In this study, we summarize and rank the drivers of ecosystem change in the Torneträsk area, and propose research priorities identified, by expert assessment, to improve predictions of ecosystem changes. The research priorities identified include understanding impacts on ecosystems brought on by altered frequency and intensity of winter warming events, evapotranspiration rates, rainfall, duration of snow cover and lake-ice, changed soil moisture, and droughts. This case study can help us understand the ongoing ecosystem changes occurring in the Torneträsk area, and contribute to improve predictions of future ecosystem changes at a larger scale. This understanding will provide the basis for the future mitigation and adaptation plans needed in a changing climate.
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| 4. |
- Björk, Mathilda, et al.
(författare)
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Inflammatory Arthritis and the Effect of Physical Activity on Quality of Life and Self-reported Function : A Systematic Review and Meta-analysis
- 2022
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Ingår i: Arthritis care & research. - : John Wiley & Sons. - 2151-464X .- 2151-4658. ; 74:1, s. 31-43
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Forskningsöversikt (refereegranskat)abstract
- OBJECTIVE: Although physical activity (PA) is an evidence-based intervention that reduces disease-related symptoms and comorbidity in rheumatoid arthritis (RA), PA's effect on self-reported function and Quality of Life (QoL) has not been analyzed. This study synthesizes the evidence for the effectiveness of PA on QoL and self-reported function in adults with RA, spondyloarthritis (SpA), and psoriatic arthritis (PsA).METHODS: The databases PubMed, Embase, CINAHL, and Cochrane Central Register of Controlled Trials (CENTRAL) were searched to identify relevant randomized controlled trials (RCTs). Screening, risk of bias assessment (using RoB 2.0 tool), and data extraction were independently performed by two or more of the authors. The meta-analyses were conducted with a random-effects model.RESULTS: The systematic review included 55 RCTs and the meta-analysis included 37 RCTs. In 55 studies included, 76% investigated RA, 20% investigated SpA, and 4% investigated PsA. In RA effects were found on QoL and function compared to inactive controls, effects not sustained in comparison to active controls. In SpA the effects of PA on QoL were in favor of the control group. Effects on function were found compared to inactive controls and sustained in fatigue and pain when compared to active controls. In PsA no effects on QoL were found but on function compared to inactive controls. The effect size was below 0.30 in the majority of the comparisons.CONCLUSION: PA may improve QoL and self-reported function in RA, SpA, and PsA. However, larger trials are needed, especially in SpA and PsA.
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| 5. |
- Jonsson, Ulf, 1974-, et al.
(författare)
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Internet-delivered psychological treatment as an add-on to treatment as usual for common mental disorders : A systematic review with meta-analysis of randomized trials
- 2023
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Ingår i: Journal of Affective Disorders. - : Elsevier. - 0165-0327 .- 1573-2517. ; 322, s. 221-234
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Forskningsöversikt (refereegranskat)abstract
- BACKGROUND: Psychological treatments for common mental disorders are increasingly being delivered remotely via the internet. Evidence suggests that internet-delivered cognitive behavioural therapy (iCBT) is superior to waitlist. However, the benefits are unclear of using this treatment modality as an add-on to treatment as usual (TAU) in regular healthcare.METHODS: The literature was systematically searched up to August 2021 for randomized trials of internet-delivered psychological treatments using TAU as the comparator. Eligible participants were diagnosed with depressive, anxiety, obsessive-compulsive, or trauma- and stress-related disorders. Outcomes of interest were symptoms, functioning, quality of life, healthcare utilization, and negative effects. Results were synthesized using random-effects meta-analyses. Quality of evidence was assessed using GRADE.RESULTS: The included studies evaluated iCBT for adults with depression (k = 9), depressive or anxiety disorders (k = 4), and post-traumatic stress disorder (k = 2) and were conducted in primary care or similar settings. For depression, low-certainty evidence suggested beneficial short-term effects on symptoms (g = -0.23; 95 % CI: = -0.37, -0.09), response rate (OR = 2.46; 1.31, 4.64), and remission (OR = 1.70; 1.19, 2.42;). The certainty of evidence was very low for long-term effects, other outcomes, and other disorders.LIMITATIONS: TAU varied across studies and was often insufficiently described.CONCLUSIONS: iCBT as a complement to usual care for adult with depression may result in a small incremental effect, which potentially could be clinically important. Studies are lacking for several common disorders and for children, adolescents, and the elderly. More robust studies of long-term effects are also needed, to better inform clinical decision-making.
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| 6. |
- Möller, Marika, et al.
(författare)
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Cognitive dysfunction in post-COVID-19 condition : mechanisms, management, and rehabilitation
- 2023
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Ingår i: Journal of Internal Medicine. - : John Wiley & Sons. - 0954-6820 .- 1365-2796. ; 294:5, s. 563-581
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Forskningsöversikt (refereegranskat)abstract
- The long-term effects of COVID-19 on cognitive function have become an area of increasing concern. This paper provides an overview of characteristics, risk factors, possible mechanisms, and management strategies for cognitive dysfunction in post-COVID-19 condition (PCC). Prolonged cognitive dysfunction is one of the most common impairments in PCC, affecting between 17% and 28% of the individuals more than 12 weeks after the infection and persisting in some cases for several years. Cognitive dysfunctions can be manifested as a wide range of symptoms including memory impairment, attention deficit, executive dysfunction, and reduced processing speed. Risk factors for developing PCC, with or without cognitive impairments, include advanced age, preexisting medical conditions, and the severity of acute illness. The underlying mechanisms remain unclear, but proposed contributors include neuroinflammation, hypoxia, vascular damage, and latent virus reactivation not excluding the possibility of direct viral invasion of the central nervous system, illustrating complex viral pathology. As the individual variation of the cognitive impairments is large, a neuropsychological examination and a person-centered multidimensional approach are required. According to the World Health Organization, limited evidence on COVID-19-related cognitive impairments necessitates implementing rehabilitation interventions from established practices of similar conditions. Psychoeducation and compensatory skills training are recommended. Assistive products and environmental modifications adapted to individual needs might be helpful. In specific attention- and working memory dysfunctions, cognitive training—carefully monitored for intensity—might be effective for people who do not suffer from post-exertional malaise. Further research is crucial for evidence-based interventions specific to COVID-19-related cognitive impairments.
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| 7. |
- Persson, Margareta, et al.
(författare)
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Care and support when a baby is stillborn : A systematic review and an interpretive meta-synthesis of qualitative studies in high-income countries
- 2023
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 18:8
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Forskningsöversikt (refereegranskat)abstract
- IntroductionApproximately 2 million babies are stillborn annually worldwide, most in low- and middle-income countries. Present review studies of the parental and healthcare providers' experiences of stillbirth often include a variety of settings, which may skew the findings as the available resources can vary considerably. In high-income countries, the prevalence of stillbirth is low, and support programs are often initiated immediately when a baby with no signs of life is detected. There is limited knowledge about what matters to parents, siblings, and healthcare providers when a baby is stillborn in high-income countries. ObjectivesThis systematic review and interpretive meta-synthesis aim to identify important aspects of care and support for parents, siblings, and healthcare professionals in high-income countries from the diagnosis of stillbirth throughout the birth and postpartum period. MethodsA systematic review and qualitative meta-synthesis were conducted to gain a deeper and broader understanding of the available knowledge about treatment and support when stillbirth occurred. Relevant papers were identified by systematically searching international electronic databases and citation tracking. The quality of the included studies was assessed, and the data was interpreted and synthesised using Gadamer's hermeneutics. The review protocol, including qualitative and quantitative study approaches, was registered on PROSPERO (CRD42022306655). ResultsSixteen studies were identified and included in the qualitative meta-synthesis. Experiences of care and support were interpreted and identified as four fusions. First, Personification is of central importance and stresses the need to acknowledge the baby as a unique person. The parents became parents even though their baby was born dead: The staff should also be recognised as the individuals they are with their personal histories. Second, the personification is reinforced by a respectful attitude where the parents are confirmed in their grief; the baby is treated the same way a live baby would be. Healthcare professionals need enough time to process their experiences before caring for other families giving birth. Third, Existential issues about life and death become intensely tangible for everyone involved, and they often feel lonely and vulnerable. Healthcare professionals also reflect on the thin line between life and death and often question their performance, especially when lacking collegial and organisational support. Finally, the fusion Stigmatisation focused on how parents, siblings, and healthcare professionals experienced stigma expressed as a sense of loneliness, vulnerability, and being deviant and marginalised when a baby died before or during birth. GRADE CERQual ratings for the four fusions ranged from moderate to high confidence. ConclusionsThe profound experiences synthesised in the fusions of this meta-synthesis showed the complex impacts the birth of a baby with no signs of life had on everyone involved. These fusions can be addressed and supported by applying person-centred care to all individuals involved. Hence, grief may be facilitated for parents and siblings, and healthcare professionals may be provided with good conditions in their professional practice. Furthermore, continuing education and support to healthcare professionals may facilitate them to provide compassionate care and support to affected parents and siblings. The fusions should also be considered when implementing national recommendations, guidelines, and clinical practice.
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| 8. |
- Ranta, Susanna, et al.
(författare)
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Icu admission in children with acute lymphoblastic leukemia in sweden: Prevalence, outcome, and risk factors
- 2021
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Ingår i: Pediatric Critical Care Medicine. - Philadelphia, PA, United States : Lippincott Williams & Wilkins. - 1529-7535 .- 1947-3893. ; 22:12, s. 1050-1060
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Forskningsöversikt (refereegranskat)abstract
- OBJECTIVES: Despite progress in the treatment of childhood acute lymphoblastic leukemia, severe complications are common, and the need of supportive care is high. We explored the cumulative prevalence, clinical risk factors, and outcomes of children with acute lymphoblastic leukemia, on first-line leukemia treatment in the ICUs in Sweden.DESIGN: A nationwide prospective register and retrospective chart review study.SETTING: Children with acute lymphoblastic leukemia were identified,and demographic and clinical data were obtained from the Swedish Childhood Cancer Registry. Data on intensive care were collected from the Swedish Intensive Care Registry. Data on patients with registered ICU admission in the Swedish Childhood Cancer Registry were supplemented through questionnaires to the pediatric oncology centers.PATIENTS: All 637 children 0-17.9 years old with acute lymphoblastic leukemia diagnosed between June 2008 and December 2016 in Sweden were included.INTERVENTIONS: None.MEASUREMENTS AND MAIN RESULTS: Twenty-eight percent of the children (178/637) were admitted to an ICU at least once. The Swedish Intensive Care Registry data were available for 96% of admissions (241/252). An ICU admission was associated with poor overall survival (hazard ratio, 3.25; 95% CI, 1.97-5.36; p ≤ 0.0001). ICU admissions occurred often during early treatment; 48% (85/178) were admitted to the ICU before the end of the first month of acute lymphoblastic leukemia treatment (induction therapy). Children with T-cell acute lymphoblastic leukemia or CNS leukemia had a higher risk of being admitted to the ICU in multivariable analyses, both for early admissions before the end of induction therapy and for all admissions during the study period.CONCLUSIONS: The need for intensive care in children with acute lymphoblastic leukemia, especially for children with T cell acute lymphoblastic leukemia and CNS leukemia, is high with most admissions occurring during early treatment.
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| 9. |
- Skoog Svanberg, Agneta, 1958-, et al.
(författare)
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Psychosocial aspects of identity-release gamete donation - perspectives of donors, recipients, and offspring
- 2020
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Ingår i: Upsala Journal of Medical Sciences. - : Uppsala Medical Society. - 0300-9734 .- 2000-1967. ; 125:2, s. 175-182
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Forskningsöversikt (refereegranskat)abstract
- Donor conception creates families with varying genetic linkage between family members. This may have short-term as well as lifelong psychosocial consequences for all involved. Gamete donors have traditionally been anonymous to recipients and offspring, but there is a growing trend towards identity-release donor programmes that give offspring the right to obtain the donor's identity. This review aims to provide an overview of the perspectives of donors and recipients and offspring involved in identity-release donation. The results show that both oocyte and sperm donors have primarily altruistic motives, and recipients, in particular lesbian and single women, are generally open about the donation to their offspring. The few existing studies on offspring perspectives indicate that those who are aware of their donor conception appear to be interested in contact with the donor, and most donors are open to such contact. Investigations of donors and recipients indicate a need for more counselling and support to manage family life with varying genetic linkage within and outside the family unit. This includes preparing for and managing future contact between the donor and his/her family and donor offspring and their family, as well as between donor siblings and their respective families.
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| 10. |
- Johansson, Åsa, et al.
(författare)
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Precision medicine in complex diseases - : Molecular subgrouping for improved prediction and treatment stratification
- 2023
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Ingår i: Journal of Internal Medicine. - : John Wiley & Sons. - 1365-2796 .- 0954-6820. ; 294:4, s. 378-396
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Forskningsöversikt (refereegranskat)abstract
- Complex diseases are caused by a combination of genetic, lifestyle, and environmental factors and comprise common noncommunicable diseases, including allergies, cardiovascular disease, and psychiatric and metabolic disorders. More than 25% of Europeans suffer from a complex disease, and together these diseases account for 70% of all deaths. The use of genomic, molecular, or imaging data to develop accurate diagnostic tools for treatment recommendations and preventive strategies, and for disease prognosis and prediction, is an important step toward precision medicine. However, for complex diseases, precision medicine is associated with several challenges. There is a significant heterogeneity between patients of a specific disease-both with regards to symptoms and underlying causal mechanisms-and the number of underlying genetic and nongenetic risk factors is often high. Here, we summarize precision medicine approaches for complex diseases and highlight the current breakthroughs as well as the challenges. We conclude that genomic-based precision medicine has been used mainly for patients with highly penetrant monogenic disease forms, such as cardiomyopathies. However, for most complex diseases-including psychiatric disorders and allergies-available polygenic risk scores are more probabilistic than deterministic and have not yet been validated for clinical utility. However, subclassifying patients of a specific disease into discrete homogenous subtypes based on molecular or phenotypic data is a promising strategy for improving diagnosis, prediction, treatment, prevention, and prognosis. The availability of high-throughput molecular technologies, together with large collections of health data and novel data-driven approaches, offers promise toward improved individual health through precision medicine.
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