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Discovery of a rare GKAP1-NTRK2 fusion in a pediatric low-grade glioma, leading to targeted treatment with TRK-inhibitor larotrectinib

Here we report a case of an 11-year-old girl with an inoperable tumor in the optic chiasm/hypothalamus, who experienced several tumor progressions despite three lines of chemotherapy treatment. Routine clinical examination classified the tumor as a BRAF-negative pilocytic astrocytoma. Copy-number variation profiling of fresh frozen tumor material identified two duplications in 9q21.32-33 leading t

Screening for open-angle glaucoma and its effect on blindness

PURPOSE: To evaluate the effect of population screening on low vision and blindness from open-angle glaucoma.DESIGN: Retrospective cohort study.STUDY POPULATION: A very large population based screening for glaucoma was conducted in Malmö, Sweden, from 1992 to 1997. A total of 42 497 subjects were invited, of which 32 918 were screened and 9579 non-responders, i.e. did not participate.METHODS: The

Covid-19 och hållbara evenemang : Påverkan, anpassning och framtid för evenemang inom idrott och friluftsliv

Evenemangsbranschen kopplad till Sveriges idrotts- och friluftsliv har påverkats kraftigt av pandemin. I det korta perspektivet har tusentals människors jobb och fritid påverkats då aktiviteter uteblivit och evenemang ställts in. De långsiktiga konsekvenserna kan leda till en förändrad syn på hur man i framtiden kommer att resa, delta i evenemang och använda arenor. Detta får i sin tur konsekvense

A study of changes in everyday mobility during the Covid-19 pandemic: As perceived by people living in Malmö, Sweden

Sweden's strategy to manage the spread of Covid-19 has not included any form of lockdown, in contrast to the approaches adopted by most other countries. Instead, the strategy has been largely based on strong recommendations for society. Even though Sweden has not had any form of lockdown, the Covid-19 pandemic has during a relatively short period of time brought changes for society, significantly

Pneumococcal vaccination in inflammatory rheumatic disease and in splenectomy patients. From antibody response to memory cells.

Objectives:The overall aim of the dissertation is to examine antibody response to immunization with pneumococcal vaccine in patients with inflammatory rheumatic disease (IRD), in relation to disease-modifying antirheumatic drug (DMARD) treatments, and in postsplenectomy patients.Methods:(I) Splenectomized patients without previous pneumococcal conjugate vaccine (PCV) immunization were invited to r

Object Permanence

Object permanence is the capacity to represent objects as persisting in time and space independently of perception.

Evaluating the Effects of SARS-CoV-2 Spike Mutation D614G on Transmissibility and Pathogenicity

Global dispersal and increasing frequency of the SARS-CoV-2 spike protein variant D614G are suggestive of a selective advantage but may also be due to a random founder effect. We investigate the hypothesis for positive selection of spike D614G in the United Kingdom using more than 25,000 whole genome SARS-CoV-2 sequences. Despite the availability of a large dataset, well represented by both spike

Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020

We show the distribution of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) genetic clades over time and between countries and outline potential genomic surveillance objectives. We applied three genomic nomenclature systems to all sequence data from the World Health Organization European Region available until 10 July 2020. We highlight the importance of real-time sequencing and data

Cerebrospinal fluid proteome maps detect pathogen-specific host response patterns in meningitis

Meningitis is a potentially life-threatening infection characterized by the inflammation of the leptomeningeal membranes. Many different viral and bacterial pathogens can cause meningitis, with differences in mortality rates, risk of developing neurological sequelae and treatment options. Here we constructed a compendium of digital cerebrospinal fluid (CSF) proteome maps to define pathogen-specifi

Perceptions of disaster temporalities in two Indigenous societies from the Southwest Pacific

Disasters are typically conceptualised as extreme events that disrupt the “normal” functioning of a society. Dominant framings imply temporal boundedness and nature as primarily responsible for environmental disasters. Yet, many critical investigations into the root causes of disasters have taken aim at their eventfulness and naturalness through convincing analysis of the historical construction o

The associations between red cell distribution width and plasma proteins in a general population

Background: High red cell distribution width (RDW) has been increasingly recognized as a risk factor for cardiovascular diseases (CVDs), but the underlying mechanisms remain unknown. Our aim was to explore the associations between RDW and plasma proteins implicated in the pathogenesis of CVD using a targeted proteomics panel. Methods: RDW and 88 plasma proteins were measured in a population-based

Plasma glial fibrillary acidic protein detects Alzheimer pathology and predicts future conversion to Alzheimer dementia in patients with mild cognitive impairment

Introduction: Plasma glial fibrillary acidic protein (GFAP) is a marker of astroglial activation and astrocytosis. We assessed the ability of plasma GFAP to detect Alzheimer’s disease (AD) pathology in the form of AD-related amyloid-β (Aβ) pathology and conversion to AD dementia in a mild cognitive impairment (MCI) cohort. Method: One hundred sixty MCI patients were followed for 4.7 years (average

The effect of low-temperature annealing on discordance of U–Pb zircon ages

Discordant U–Pb data of zircon are commonly attributed to Pb loss from domains with variable degree of radiation damage that resulted from α-decay of U and Th, which often complicates the correct age interpretation of the sample. Here we present U–Pb zircon data from 23 samples of ca. 1.7–1.9 Ga granitoid rocks in and around the Siljan impact structure in central Sweden. Our results show that zirc