| 1. |
- Ruck, Kate, et al.
(författare)
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International access to research infrastructure in the Arctic
- 2022
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Ingår i: Polar Record. - : Cambridge University Press. - 0032-2474 .- 1475-3057. ; 58
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Reliable access to Arctic research infrastructure is critical to the future of polar science. In cultivating proposals, it is essential that researchers have a deep understanding of existing platforms when selecting the appropriate research site and experimental design for projects. However, Arctic infrastructure platforms are often funded as national assets, and choices for what would be the best platform for the project are sometimes at odds with a researcher’s ability to gain access. Researchers from Arctic and non-Arctic nations are poised to benefit from reducing barriers and increasing cooperation around transnational access to Arctic infrastructure, allowing scientists to successfully execute the research that is most needed rather than what is just logistically feasible. This commentary provides a summary of findings from a workshop held at the 2021 Arctic Science Summit Week to discuss navigating “transnational” or “cross-border” access to national research infrastructure. This workshop brought together users and operators of Arctic infrastructure platforms with the three goals of identifying challenges, best practices, and possible next steps for improved collaboration.
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| 2. |
- Sobas, Marta, et al.
(författare)
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Real-world study of children and young adults with myeloproliferative neoplasms: identifying risks and unmet needs
- 2022
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Ingår i: BLOOD ADVANCES. - : ELSEVIER. - 2473-9529 .- 2473-9537. ; 6:17, s. 5171-5183
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Tidskriftsartikel (refereegranskat)abstract
- Myeloproliferative neoplasms (MPNs) are uncommon in children/young adults. Here, we present data on unselected patients diagnosed before 25 years of age included from 38 centers in 15 countries. Sequential patients were included. We identified 444 patients, with median follow-up 9.7 years (0-47.8). Forty-nine (11.1%) had a history of thrombosis at diagnosis, 49 new thrombotic events were recorded (1.16% patient per year [pt/y]), perihepatic vein thromboses were most frequent (47.6% venous events), and logistic regression identified JAK2V617F mutation (P = .016) and hyperviscosity symptoms (visual disturbances, dizziness, vertigo, headache) as risk factors (P = .040). New hemorrhagic events occurred in 44 patients (9.9%, 1.04% pt/y). Disease transformation occurred in 48 patients (10.9%, 1.13% pt/y), usually to myelofibrosis (7.5%) with splenomegaly as a novel risk factor for transformation in essential thrombocythemia (ET) (P= .000) in logistical regression. Eight deaths (1.8%) were recorded, 3 after allogeneic stem cell transplantation. Concerning conventional risk scores: International Prognostic Score for Essential Thrombocythemia-Thrombosis and new International Prognostic Score for Essential Thrombocythemia-Thrombosis differentiated ET patients in terms of thrombotic risk. Both scores identified high-risk patients with the same median thrombosis-free survival of 28.5 years. No contemporary scores were able to predict survival for young ET or polycythemia vera patients. Our data represents the largest real-world study of MPN patients age < 25 years at diagnosis. Rates of thrombotic events and transformation were higher than expected compared with the previous literature. Our study provides new and reliable information as a basis for prospective studies, trials, and development of harmonized international guidelines for the specific management of young patients with MPN.
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| 3. |
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| 4. |
- 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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| 5. |
- 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
- 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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| 6. |
- Ahlstrand, Erik, 1974-, et al.
(författare)
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Highly Reduced Survival in Essential Thrombocythemia and Polycythemia Vera Patients with Vascular Complications during Follow-up
- 2020
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Ingår i: European Journal of Haematology. - : Munksgaard Forlag. - 0902-4441 .- 1600-0609. ; 104:3, s. 271-278
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To explore the relative importance of risk factors, treatments and blood counts for the occurrence of vascular complications and their impact on life expectancy in Essential Thrombocythemia (ET) and Polycythemia Vera (PV).METHODS: Nested case-control study within the Swedish MPN registry. From a cohort of 922 ET patients and 763 PV patients, 71 ET and 81 PV cases with vascular complications were compared to matched controls.RESULTS: Incidence of vascular complications were 2.0 and 3.4 events per 100 patient-years in ET and PV, respectively. At diagnosis, no significant risk factor differences were observed between cases and controls in neither of the diseases. At the time of vascular event, ET complication cases did not differ significantly from controls but in PV, cases had significantly higher WBCs and were to a lesser extent treated with antithrombotic and cytoreductive therapy. Life expectancy was significantly decreased in both ET and PV cases compared to controls.CONCLUSIONS: The risk of vascular complications is high in both ET and PV and these complications have a considerable impact on life expectancy. The protective effect of antithrombotic and cytoreductive therapy for vascular complications in PV underscores the importance of avoiding undertreatment.
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| 7. |
- Alves-Oliveira, Patricia, et al.
(författare)
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Collection of Metaphors for Human-Robot Interaction
- 2021
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Ingår i: DIS 2021 - Proceedings of the 2021 ACM Designing Interactive Systems Conference: Nowhere and Everywhere. - New York, NY, USA : ACM. ; , s. 1366-1379
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Konferensbidrag (refereegranskat)abstract
- The word "robot"frequently conjures unrealistic expectations of utilitarian perfection: tireless, efficient and flawless agents. However, real-world robots are far from perfect - they fail and make mistakes. Thus, roboticists should consider altering their current assumptions and cultivating new perspectives that account for a more complete range of robot roles, behaviors, and interactions. To encourage this, we explore the use of metaphors for generating novel ideas and reframing existing problems, eliciting new perspectives of human-robot interaction. Our work makes two contributions. We (1) surface current assumptions that accompany the term "robots,"and (2) present a collection of alternative perspectives of interaction with robots through metaphors. By identifying assumptions, we provide a comprehensible list of aspects to reconsider regarding robots' physicality, roles, and behaviors. Through metaphors, we propose new ways of examining how we can use, relate to, and co-exist with the robots that will share our future.
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| 8. |
- Bergquist, Maria, et al.
(författare)
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TNFR1, TNFR2, neutrophil gelatinase-associated lipocalin and heparin binding protein in identifying sepsis and predicting outcome in an intensive care cohort
- 2020
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Ingår i: Scientific Reports. - : Nature Publishing Group. - 2045-2322. ; 10:1
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Tidskriftsartikel (refereegranskat)abstract
- To date no biomarkers can aid diagnosing sepsis with adequate accuracy. We set out to assess the ability of Tumor necrosis factor receptor (TNFR) 1 and 2, Neutrophil gelatinase-associated lipocalin (NGAL) and Heparin binding protein (HBP) to discriminate sepsis from non-infected critically ill patients in a large ICU cohort, and to evaluate their value to predict mortality at 30 days. Adult patients admitted to the ICU with an arterial catheter were included. Clinical data and blood samples were prospectively recorded daily. Diagnoses were set retrospectively. Descriptive statistics and logistic regression models were used. NGAL, TNFR1 and TNFR2 were higher in sepsis patients compared to other diagnoses, as well as in non-survivors compared to survivors. In addition, these biomarkers increased with increasing stages of acute kidney injury. TNFR1 and TNFR2 performed similarly to NGAL and CRP in identifying sepsis patients, but they performed better than CRP in predicting 30-day mortality in this ICU cohort. Thus, TNFR1 and TNFR2 may be particularly useful in identifying high risk sepsis patients and facilitate relevant health care actions in this group of sepsis patients.
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| 9. |
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| 10. |
- Carboni, Andrea, et al.
(författare)
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Success and Hindrance Factors of AHA-Oriented Open Service Platforms
- 2021
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Ingår i: ADVANCES IN COMPUTATIONAL COLLECTIVE INTELLIGENCE (ICCCI 2021). - Cham : SPRINGER INTERNATIONAL PUBLISHING AG. - 9783030881139 - 9783030881122 ; , s. 656-668
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Konferensbidrag (refereegranskat)abstract
- In the past years, there has been a flourishing of platforms dedicated to Active Assisted Living (AAL) and Active and Healthy Ageing (AHA). Most of them feature as their core elements intelligent systems for the analysis of multisource and multimodal data coming from sensors of various nature inserted in suitable IoT ecosystems. While progress in signal processing and artificial intelligence has shown how these platforms may have a great potential in improving the daylife of seniors or frail subjects, there are still several technological and non-technological barriers that should be torn down before full uptake of the existing solutions. In this paper, we address specifically this issue describing the outcome and creation process of a methodology aimed at evaluating the successful uptake of existing platforms in the field of AHA. We propose a pathway (as part of an overarching methodology) to define and select for Key Performance Indicators (KPIs), taking into account an extensive amount of parameters related to success, uptake and evolution of platforms. For this, we contribute a detailed analysis structured along with the 4 main actions of mapping, observing, understanding, and defining. Our analysis focuses on Platforms, defined as operating environments, under which various applications, agents and intelligent services are designed, implemented, tested, released and maintained. By following the proposed pathway, we were able to define a practical and effective methodology for monitoring and evaluating the uptake and other success indicators of AHA platforms. Besides, by the same token, we were able to provide guidelines and best practices for the development of the next-generation platforms in the AHA domain.
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