| 1. |
- Tesi, Bianca, et al.
(författare)
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Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors : a nationwide, prospective Swedish study
- 2024
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Ingår i: The Lancet Regional Health. - : Elsevier. - 2666-7762. ; 39
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundChildhood cancer predisposition (ChiCaP) syndromes are increasingly recognized as contributing factors to childhood cancer development. Yet, due to variable availability of germline testing, many children with ChiCaP might go undetected today. We report results from the nationwide and prospective ChiCaP study that investigated diagnostic yield and clinical impact of integrating germline whole-genome sequencing (gWGS) with tumor sequencing and systematic phenotyping in children with solid tumors.MethodsgWGS was performed in 309 children at diagnosis of CNS (n = 123, 40%) or extracranial (n = 186, 60%) solid tumors and analyzed for disease-causing variants in 189 known cancer predisposing genes. Tumor sequencing data were available for 74% (227/309) of patients. In addition, a standardized clinical assessment for underlying predisposition was performed in 95% (293/309) of patients.FindingsThe prevalence of ChiCaP diagnoses was 11% (35/309), of which 69% (24/35) were unknown at inclusion (diagnostic yield 8%, 24/298). A second-hit and/or relevant mutational signature was observed in 19/21 (90%) tumors with informative data. ChiCaP diagnoses were more prevalent among patients with retinoblastomas (50%, 6/12) and high-grade astrocytomas (37%, 6/16), and in those with non-cancer related features (23%, 20/88), and ≥2 positive ChiCaP criteria (28%, 22/79). ChiCaP diagnoses were autosomal dominant in 80% (28/35) of patients, yet confirmed de novo in 64% (18/28). The 35 ChiCaP findings resulted in tailored surveillance (86%, 30/35) and treatment recommendations (31%, 11/35).InterpretationOverall, our results demonstrate that systematic phenotyping, combined with genomics-based diagnostics of ChiCaP in children with solid tumors is feasible in large-scale clinical practice and critically guides personalized care in a sizable proportion of patients.
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| 2. |
- Tesi, Bianca, et al.
(författare)
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Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors : a nationwide, prospective Swedish study
- 2024
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Ingår i: The Lancet Regional Health. - : Elsevier. - 2666-7762. ; 39
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Childhood cancer predisposition (ChiCaP) syndromes are increasingly recognized as contributing factors to childhood cancer development. Yet, due to variable availability of germline testing, many children with ChiCaP might go undetected today. We report results from the nationwide and prospective ChiCaP study that investigated diagnostic yield and clinical impact of integrating germline whole-genome sequencing (gWGS) with tumor sequencing and systematic phenotyping in children with solid tumors.Methods: gWGS was performed in 309 children at diagnosis of CNS (n = 123, 40%) or extracranial (n = 186, 60%) solid tumors and analyzed for disease-causing variants in 189 known cancer predisposing genes. Tumor sequencing data were available for 74% (227/309) of patients. In addition, a standardized clinical assessment for underlying predisposition was performed in 95% (293/309) of patients.Findings: The prevalence of ChiCaP diagnoses was 11% (35/309), of which 69% (24/35) were unknown at inclusion (diagnostic yield 8%, 24/298). A second-hit and/or relevant mutational signature was observed in 19/21 (90%) tumors with informative data. ChiCaP diagnoses were more prevalent among patients with retinoblastomas (50%, 6/12) and high-grade astrocytomas (37%, 6/16), and in those with non-cancer related features (23%, 20/88), and ≥2 positive ChiCaP criteria (28%, 22/79). ChiCaP diagnoses were autosomal dominant in 80% (28/35) of patients, yet confirmed de novo in 64% (18/28). The 35 ChiCaP findings resulted in tailored surveillance (86%, 30/35) and treatment recommendations (31%, 11/35).Interpretation: Overall, our results demonstrate that systematic phenotyping, combined with genomics-based diagnostics of ChiCaP in children with solid tumors is feasible in large-scale clinical practice and critically guides personalized care in a sizable proportion of patients.Funding: The study was supported by the Swedish Childhood Cancer Fund and the Ministry of Health and Social Affairs.
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| 3. |
- Allard, Anna, et al.
(författare)
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Demands on monitoring
- 2023
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Ingår i: Monitoring Biodiversity : Combining Environmental and Social Data. - London : Routledge. - 9781032015934 ; , s. 34-58
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Bokkapitel (refereegranskat)abstract
- This chapter provides a short overview of the types of processes for reporting as well as legislation that governs why and how monitoring is undertaken and some of the ways in which stakeholders are involved at different levels. Because monitoring for the policy side is, by default, mandated monitoring, this type becomes the focus of this chapter, while noting that many policies and legislation may have been prompted by the results of question-driven monitoring, pointing out areas of concern. In fact, the iterative process of monitoring, analysis, and reporting to a government that, in turn, changes the policies to better fit concerns or issues needing addressing can be seen as a co-development.Whereas the previous chapter illustrated what monitoring is, this chapter illustrates some of the demands on monitoring in legislation and policy, where they outline what monitoring is asked to contribute. The chapter reviews legislation on the global scene, on the community level of the European Union, and at national levels in the areas of water bodies and semi-aquatic, agricultural, urban, and forested semi-natural or natural landscapes.
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| 4. |
- Anskär, Eva, 1957-
(författare)
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Time flies in primary care : a study on time utilisation and perceived psychosocial work environment
- 2019
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Licentiatavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Background: Time utilisation among primary care professionals has been affected by structural changes and reorganisation performed in Swedish primary care over several decades. The work situation is complex with a heavy administrative work load. The overall aim with this thesis was to describe time utilisation among staff in Swedish primary care and to investigate associations with perceived psychosocial work environment and legitimacy of work tasks.Methods: A multicentre, descriptive, cross-sectional study design was used including all staff categories in primary care i.e. registered nurses, primary care physicians, care administrators, nurse assistants and allied professionals (physiotherapists, occupational therapists, psychologists, counsellors, dieticians and chiropodists) at eleven primary care centres located in southeast Sweden. The data collection consisted of a questionnaire including a subjective estimate of workload, the Bern Illegitimate Tasks Scale (BITS) and the Copenhagen Psychosocial Questionnaire (COPSOQ). Also, a time study was performed, where the participants reported their work time based on three main categories; direct patient work tasks, indirect patient work tasks and other work tasks, each with a number of subcategories. The participants reported time spent on different work tasks, day by day during two separate weeks. Response rates were 75% for the questionnaire and 79% for the time study.Results: In paper I the time study revealed that health professionals at the primary care centres spent 37% of their work time with direct patient work tasks. All professions estimated a higher proportion of time spent directly with patients than they reported in the time study. Physicians scored highest on the psychosocial scales of quantitative demands, stress and role conflicts. The proportion of administrative work tasks was associated with role conflicts, the more administration the more role conflicts. Findings in paper II were that more than a quarter of physicians scored above the cut-off value for BITS regarding unnecessary work tasks, which was significantly more than the proportion observed in all other professions in the survey. Across all staff groups, a perception of having to perform illegitimate work tasks was associated with experiencing negative psychosocial work environment and with high proportion of administrative-related work tasks.Conclusions: Swedish primary care staff spend a limited proportion of their work time directly with patients and primary care physicians perceive the psychosocial work environment in negative terms to a greater extent than all other staff members. Allocation of work tasks has an influence on the perceived psychosocial work environment. The perception of having a large number of illegitimate work tasks affects the psychosocial work environment negatively, which might influence the perception the staff have of their professional roles. Perception of high proportion of unreasonable work tasks is associated with a high proportion of non-patient-related administration.This thesis illuminates the importance of decision makers thoroughly considering the distribution and allocation of non-patient related work tasks among staff in primary care, in order to achieve efficient use of personnel resources and favourable working conditions. Hopefully, the results of this study will contribute to further development of primary care so that medical competence will benefit patients as much as possible.
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| 5. |
- Anukam, Anthony, et al.
(författare)
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A review of the mechanism of bonding in densified biomass pellets
- 2021
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Ingår i: Renewable & sustainable energy reviews. - : Elsevier. - 1364-0321 .- 1879-0690. ; 148
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Tidskriftsartikel (refereegranskat)abstract
- The production of durable biomass pellets have always been challenged by several factors including the lack of understanding of the mechanism involved in how particles combine to form pellets under standard conditions of the pellet press. This is because contributing factors span several molecular, microscopic, and even nanoscopic levels as biomass undergoes pelleting. The characteristics of the bonds formed between the combining particles and their relevance to the quality of pellets remains vague, no matter how quality is defined. However, even though few researchers have attempted to explain the mechanism of bonding in densified biomass pellets using different theories, none of their hypotheses supports particle bonding from a structural chemistry perspective. There are still no clear explanations which consider the role of molecular structure and the interactions of substances as milled biomass undergo pelleting. In view of these arguments therefore, this review presents an in-depth analysis of a structural chemistry perspective of the mechanism of bonding and the use of additives in densified biomass pellets and helps identify research areas needed to facilitate better understanding of bonding in densified biomass pellets. The status of current research in biomass pelleting, types of materials suitable as additives and their structural characteristics, as well as the current technical specifications of using additives are also discussed.
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| 6. |
- Berghel, Jonas, 1966-, et al.
(författare)
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A comparison of relevant data and results from single pellet press research is Mission Impossible : A review
- 2022
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Ingår i: Bioresource Technology Reports. - : Elsevier. - 2589-014X. ; 18
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Tidskriftsartikel (refereegranskat)abstract
- A global increase in the wood fuel pellet market requires knowledge of new biomasses pelleting abilities. As large-scale industrial tests of new materials are costly, tests in e.g., a single pellet press (SPP) are desirable. SPPs have many different configurations and it typically produces one pellet at a time and can give results of its pelletability. This review has surveyed the research that has been carried out of SPPs to ascertain the feasibility of comparing their obtained data and the results. The results show that it is almost impossible to compare the data and results of the various different SPP studies, e.g., some information from the data used was missing, resulting in that only 27 out of 70 papers were comparable. One solution could be the introduction of a common SPP testing method using a determined set of data that enables a reference pellet to be produced in every study.
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| 7. |
- Berghel, Jonas, 1966-, et al.
(författare)
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From sawdust to pellets. Still a challenge...
- 2012
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Ingår i: Public Service Review European Union. - : European union. ; :33, s. 398-399
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 8. |
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| 9. |
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| 10. |
- Berghel, Jonas, 1966-, et al.
(författare)
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Lösningarna finns! Är pelletsproducenterna medvetna om problemen?
- 2011
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Ingår i: Bioenergi. - Gävle : Region Gävleborg. - 9789163391262 ; , s. 25-29
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Sverige är inte längre världsledande som pelletsproducent. USA producerar allra mest pellets i världen. Kanada och Ryssland producerar också allt mer pellets. Ingen av dessa länder har någon omfattande inhemsk konsumtion. I stort sett all pellets exporteras och det sker huvudsakligen till Europa. Sannolikt kommer det att leda till att priset på pellets i Europa sjunker, med följd att lönsamheten för svenska pelletsproducenter minskar.
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