| 1. |
- Arnell, Sofie, 1984-
(author)
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Elevers möten med matematik : En studie om elevers möten med matematik i förskoleklass och årskurs 1
- 2021
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Doctoral thesis (other academic/artistic)abstract
- Många och positiva tidiga möten med matematik är betydelsefulla för barns och elevers matematiklärande. Avhandlingens syfte är att bidra med kunskap om elevers möten med matematik i förskoleklass och årskurs 1 genom att undersöka, analysera och beskriva dem. Ytterligare ett syfte är att redogöra för likheter och skillnader i elevers möten med matematik i förskoleklass och årskurs 1 för att bidra till ökad förståelse kring faktorer som kan påverka elevers möjligheter att utveckla förståelse för skolmatematiken. En empirisk studie genomfördes, där en elevgrupp och dess lärare följdes från höstterminen i förskoleklass till höstterminen i årskurs 1. Data samlades in genom deltagande observationer och informella samtal. Materialet analyserades sedan i två steg; först gjordes en empirinära analys och därefter en teoretisk analys utifrån begrepp hämtade från verksamhetsteorin. Resultatet visar att elevers möten med matematik i förskoleklass och årskurs 1 sker på en mängd olika sätt. Mötena kan relateras till tre olika typer av matematikverksamheter i både förskoleklassen och årskurs 1, vilka erbjuder eleverna olika lärandemöjligheter. Av dessa verksamheter framgår även att matematikundervisningen är mer formell i årskurs 1 än i förskoleklassen. Det visar sig i att eleverna har högre handlingsfrihet i förskoleklassen än i årskurs 1 och att det finns ett starkare fokus på matematiska begrepp och metoder i årskurs 1 än i förskoleklassen. Dessa skillnader kan vidare få negativa konsekvenser för kontinuiteten i elevernas matematiklärande.
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| 2. |
- Christensen, Mathilde Egelund, et al.
(author)
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Monocytosis in primary care and risk of haematological malignancies
- 2023
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In: European Journal of Haematology. - : WILEY. - 0902-4441 .- 1600-0609. ; 110:4, s. 362-370
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Journal article (peer-reviewed)abstract
- Monocytosis (>= 0.5 x 10(9)/L in peripheral blood) is the hallmark of chronic myelomonocytic leukaemia (CMML) but may be present in a spectrum of diseases including other haematological malignancies. In the primary care sector, monocytosis is a relatively common finding, but its predictive value for haematological malignancy is unknown. We included 663 184 adult primary care patients from the greater Copenhagen area with one or more differential cell counts registered between 2000 and 2016 and followed them in the extensive nationwide Danish health data registers for 3 years after blood sampling. We used logistic regression to model the risk of haematological malignancy and death following monocytosis. Monocytosis was associated with an increased risk of all types of haematological malignancy with the greatest relative risk increase observed in CMML with an OR of 105.22 (95% confidence interval: 38.27-289.30). Sustained monocytosis (at least two requisitions in 3 months) further increased CMML risk, although the diagnosis was still very rare, that is, observed in only 0.1% of these individuals. Outside the haematological setting, the absolute risk of haematological malignancy associated with monocytosis is low and haematological malignancy should mainly be suspected when monocytosis is sustained or the clinical presentation raises suspicion of malignancy.
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| 3. |
- Tesi, Bianca, et al.
(author)
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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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In: The Lancet Regional Health. - : Elsevier. - 2666-7762. ; 39
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Journal article (peer-reviewed)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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| 4. |
- Wadensten, Elisabeth, et al.
(author)
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Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer
- 2023
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In: JCO Precision Oncology. - : American Society of Clinical Oncology. - 2473-4284. ; :7
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Journal article (peer-reviewed)abstract
- Purpose: Several studies have indicated that broad genomic characterization of childhood cancer provides diagnostically and/or therapeutically relevant information in selected high-risk cases. However, the extent to which such characterization offers clinically actionable data in a prospective broadly inclusive setting remains largely unexplored.Methods: We implemented prospective whole-genome sequencing (WGS) of tumor and germline, complemented by whole-transcriptome sequencing (RNA-Seq) for all children diagnosed with a primary or relapsed solid malignancy in Sweden. Multidisciplinary molecular tumor boards were set up to integrate genomic data in the clinical decision process along with a medicolegal framework enabling secondary use of sequencing data for research purposes.Results: During the study's first 14 months, 118 solid tumors from 117 patients were subjected to WGS, with complementary RNA-Seq for fusion gene detection in 52 tumors. There was no significant geographic bias in patient enrollment, and the included tumor types reflected the annual national incidence of pediatric solid tumor types. Of the 112 tumors with somatic mutations, 106 (95%) exhibited alterations with a clear clinical correlation. In 46 of 118 tumors (39%), sequencing only corroborated histopathological diagnoses, while in 59 cases (50%), it contributed to additional subclassification or detection of prognostic markers. Potential treatment targets were found in 31 patients (26%), most commonly ALK mutations/fusions (n = 4), RAS/RAF/MEK/ERK pathway mutations (n = 14), FGFR1 mutations/fusions (n = 5), IDH1 mutations (n = 2), and NTRK2 gene fusions (n = 2). In one patient, the tumor diagnosis was revised based on sequencing. Clinically relevant germline variants were detected in 8 of 94 patients (8.5%).Conclusion: Up-front, large-scale genomic characterization of pediatric solid malignancies provides diagnostically valuable data in the majority of patients also in a largely unselected cohort.
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