69 Works

Data from: 2b-RAD genotyping for population genomic studies of Chagas disease vectors: Rhodnius ecuadoriensis in Ecuador

Luis Enrique Hernandez Castro, Marta Paterno, Anita G. Villacís, Björn Andersson, Jaime A. Costales, Michele De Noia, Sofía Ocaña-Mayorga, Cesar A. Yumiseva, Mario J. Grijalva, Martin S. Llewellyn & Luis E. Hernandez-Castro
Background: Rhodnius ecuadoriensis is the main triatomine vector of Chagas disease, American trypanosomiasis, in Southern Ecuador and Northern Peru. Genomic approaches and next generation sequencing technologies have become powerful tools for investigating population diversity and structure which is a key consideration for vector control. Here we assess the effectiveness of three different 2b restriction site-associated DNA (2b-RAD) genotyping strategies in R. ecuadoriensis to provide sufficient genomic resolution to tease apart microevolutionary processes and undertake some...

Data from: RPASE: individual based allele-specific expression detection without prior knowledge of haplotype phase

Mi Wang, Severin Uebbing, Yudi Pawitan & Douglas G. Scofield
Variation in gene expression is believed to make a significant contribution to phenotypic diversity and divergence. The analysis of allele-specific expression (ASE) can reveal important insights into gene expression regulation. We developed a novel method called RPASE (Read-backed Phasing-based ASE detection) to test for genes that show ASE. With mapped RNA-seq data from a single individual and a list of SNPs from the same individual as the only input, RPASE is capable of aggregating information...

Data from: Increased CAIDE dementia risk, cognition, CSF biomarkers and vascular burden in healthy adults

Mirian Ecay-Torres, Ainara Estanga, Mikel Tainta, Andrea Izagirre, Maite Garcia-Sebastian, Jorge Villanua, Montserrat Clerigue, Ane Iriondo, Iratxe Urreta, Arantzazu Arrospide, Carmen Díaz-Mardomingo, Miia Kivipelto & Pablo Martinez-Lage
Objective: To investigate the cognitive profile of healthy individuals with increased CAIDE dementia risk score, and to explore whether this association is related to vascular burden and CSF biomarkers of amyloidosis and neurodegeneration. Method: Cognitively normal participants (mean age = 57.6 years) from the Gipuzkoa Alzheimer Project study were classified as having high risk (HR, n = 82) or low risk (LR, n = 293) for dementia according to a CAIDE score cut off of...

Data from: Infant CPAP for low-income countries: an experimental comparison of standard bubble CPAP and the Pumani system

Markus Falk, Snorri Donaldsson & Thomas Drevhammar
Introduction: Access to inexpensive respiratory support to newborn infants improves survival in low-income countries. Standard bubble continuous positive airway pressure (CPAP) has been extensively used worldwide for more than 30 years. One project aimed at providing affordable CPAP is the Pumani system developed by Rice 360. Compared to standard bubble CPAP the system has an unconventional design. The aim was to compare the Pumani system with two traditional bubble CPAP systems, focusing on in-vitro performance...

Data from: Delusion-proneness displays comorbidity with traits of autistic-spectrum disorders and ADHD

Anaïs Louzolo, Petter Gustavsson, Lars Tigerström, Martin Ingvar, Andreas Olsson & Predrag Petrovic
There is an increasing body of evidence suggesting a significant comorbidity between psychotic disorders such as schizophrenia and attention-deficit/hyperactivity disorder (ADHD) or autism-spectrum disorders (ASD). Recently, research on psychosis-proneness in otherwise healthy individuals has been a promising way to better understand the mechanisms underlying psychosis. As both ADHD and ASD symptoms show a normal distribution in the general population, such trait comorbidity may confound studies on psychosis-proneness. Thus, understanding the extent to which psychosis-proneness relates...

Data from: High serum MMP-14 predicts worse survival in gastric cancer

Aaro Kasurinen, Taina Tervahartiala, Alli Laitinen, Arto Kokkola, Timo Sorsa, Camilla Böckelman & Caj Haglund
Matrix metalloproteinases (MMPs), endopeptidases with diverse biochemical functions, can promote cancer cell invasion and metastasis by degrading the extracellular matrix. A high matrix metalloproteinase-14 (MMP-14) expression in gastric cancer tissue has been associated with metastasis and poor prognosis. To further understand this association, we investigated serum MMP-14 as a biomarker in gastric cancer patients. The patient cohort consisted of 240 gastric adenocarcinoma patients who underwent surgery at Helsinki University Hospital, Finland, between 2000 and 2009....

Data from: Diagnostic and prognostic value of soluble syndecan-1 for pleural malignancies

Filip Mundt, Ghazal Heidari-Hamedani, Gustav Nilsonne, Muzaffer Metintas, Anders Hjerpe & Katalin Dobra
Background. The distinction between malignant and benign pleural effusions is a diagnostic challenge today and measuring soluble biomarkers could add to the diagnostic accuracy. Syndecan-1 is a proteoglycan involved in various cellular functions and is cleaved from the cell surface in a regulated manner. The shed fragment, which can be recovered in effusion supernatant and in serum, retains its binding capacities, but often with different functions and signalling properties than the cell-bound form. Aim. This...

Data from: Core executive functions are associated with success in young elite soccer players

Torbjörn Vestberg, Gustaf Reinebo, Liselotte Maurex, Martin Ingvar & Predrag Petrovic
Physical capacity and coordination cannot alone predict success in team sports such as soccer. Instead, more focus has been directed towards the importance of cognitive abilities, and it has been suggested that executive functions (EF) are fundamentally important for success in soccer. However, executive functions are going through a steep development from adolescence to adulthood. Moreover, more complex EF involving manipulation of information (higher level EF) develop later than simple executive functions such as those...

The role of low-grade inflammation in ME/CFS (Myalgic Encephalomyelitis/Chronic Fatigue Syndrome) - associations with symptoms

Anna Andreasson, Martin Jonsjö, Gunnar Olsson, Rikard K Wicksell, Kjell Alving & Linda Holmström
Background Patients with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) often present with a range of flu-like symptoms resembling sickness behavior as well as widespread pain and concentration deficits. The aim of this study was to explore the association between inflammatory markers previously shown to be related to fatigue severity in ME/CFS and common ME/CFS symptoms post-exertional fatigue, impaired cognitive processing, musculoskeletal pain and recurrent flu-like symptoms, and the moderating effect of sex on these associations. Methods...

Major oscillations in spontaneous home‑cage activity in C57BL/6 mice housed under constant conditions

Brun Ulfhake, Eric Rullman & Karin Pernold
The mouse is the most important mammalian model in life science research and the behavior of the mouse is a key read-out of experimental interventions and genetic manipulations. To serve this purpose a solid understanding of the mouse normal behavior is a prerequisite. Using 14–19 months of cumulative 24/7 home-cage activity recorded with a non-intrusive technique, evidence is here provided for a highly significant circannual oscillation in spontaneous activity (1–2 SD of the mean, on...

Data from: Reliability and construct validity of the Psychopathic Personality Inventory-Revised in a Swedish non-criminal sample: a multimethod approach including psychophysiological correlates of empathy for pain

Karolina Sörman, Gustav Nilsonne, Katarina Howner, Sandra Tamm, Shilan Caman, Hui-Xin Wang, Martin Ingvar, John F. Edens, Petter Gustavsson, Scott O. Lilienfeld, Predrag Petrovic, Håkan Fischer & Marianne Kristiansson
Cross-cultural investigation of psychopathy measures is important for clarifying the nomological network surrounding the psychopathy construct. The Psychopathic Personality Inventory-Revised (PPI-R) is one of the most extensively researched self-report measures of psychopathic traits in adults. To date however, it has been examined primarily in North American criminal or student samples. To address this gap in the literature, we examined PPI-R’s reliability, construct validity and factor structure in non-criminal individuals (N = 227) in Sweden, using...

Data from: Rapid evolution of distinct Helicobacter pylori subpopulations in the Americas

Kaisa Thorell, Koji Yahara, Elvire Berthenet, Daniel J. Lawson, Jane Mikhail, Ikuko Kato, Alfonso Mendez, Cosmeri Rizzato, María Mercedes Bravo, Rumiko Suzuki, Yoshio Yamaoka, Javier Torres, Samuel K. Sheppard & Daniel Falush
For the last 500 years, the Americas have been a melting pot both for genetically diverse humans and for the pathogenic and commensal organisms associated with them. One such organism is the stomach-dwelling bacterium Helicobacter pylori, which is highly prevalent in Latin America where it is a major current public health challenge because of its strong association with gastric cancer. By analyzing the genome sequence of H. pylori isolated in North, Central and South America,...

Data from: Signals from the brain and olfactory epithelium control shaping of the mammalian nasal capsule cartilage

Marketa Kaucka, Julian Petersen, Marketa Tesarova, Bara Szarowska, Maria Eleni Kastriti, Meng Xie, Anna Kicheva, Karl Annusver, Maria Kasper, Orsolya Symmons, Leslie Pan, Francois Spitz, Jozef Kaiser, Maria Hovorakova, Tomas Zikmund, Kazunori Sunadome, Michael P. Matise, Hui Wang, Ulrika Marklund, Hind Abdo, Patrik Ernfors, Pascal Maire, Maud Wurmser, Andrei S. Chagin, Kaj Fried … & Igor Adameyko
Facial shape is the basis for facial recognition and categorization. Facial features reflect the underlying geometry of the skeletal structures. Here we reveal that cartilaginous nasal capsule (corresponding to upper jaw and face) is shaped by signals generated by neural structures: brain and olfactory epithelium. Brain-derived Sonic Hedgehog (SHH) enables the induction of nasal septum and posterior nasal capsule, whereas the formation of a capsule roof is controlled by signals from the olfactory epithelium. Unexpectedly,...

Data from: Multimodal MRI suggests that male homosexuality may be linked to cerebral midline structures

Amirhossein Manzouri & Ivanka Savic
The neurobiology of sexual preference is often discussed in terms of cerebral sex dimorphism. Yet, our knowledge about possible cerebral differences between homosexual men (HoM), heterosexual men (HeM) and heterosexual women (HeW) are extremely limited. In the present MRI study we addressed this issue investigating measures of cerebral anatomy and function, which were previously reported to show sex difference. Specifically, we asked whether there were any signs of sex atypical cerebral dimorphism among HoM, if...

Data from: Continuum of vasodilator stress from rest to contrast medium to adenosine hyperemia for fractional flow reserve assessment

Nils P. Johnson, Allen Jeremias, Frederik M. Zimmermann, Julien Adjedj, Nils Witt, Barry Hennigan, Bon-Kwon Koo, Akiko Maehara, Mitsuaki Matsumura, Emanuele Barbato, Giovanni Esposito, Bruno Trimarco, Gilles Rioufol, Seung-Jung Park, Hyoung-Mo Yang, Sérgio B. Baptista, George S. Chrysant, Antonio M. Leone, Colin Berry, Bernard De Bruyne, K. Lance Gould, Richard L. Kirkeeide, Keith G. Oldroyd, Nico H. J. Pijls, William F. Fearon … & Nico H.J. Pijls
OBJECTIVES: We compared the diagnostic performance with adenosine-derived fractional flow reserve (FFR) #0.8 of contrast-based FFR (cFFR), resting distal pressure (Pd)/aortic pressure (Pa), and the instantaneous wave-free ratio (iFR). BACKGROUND: FFR objectively identifies lesions that benefit from medical therapy versus revascularization. However, FFR requires maximal vasodilation, usually achieved with adenosine. Radiographic contrast injection causes submaximal coronary hyperemia. Therefore, intracoronary contrast could provide an easy and inexpensive tool for predicting FFR. METHODS: We recruited patients undergoing...

Data from: Imposed work of breathing for flow meters with in-line versus flow-through technique during simulated neonatal breathing

Snorri Donaldsson, Markus Falk, Baldvin Jonsson & Thomas Drevhammar
Background: The ability to determine airflow during nasal CPAP (NCPAP) treatment without adding dead space or resistance would be useful when investigating the physiologic effects of different NCPAP systems on breathing. The aim of this study was to investigate the effect on pressure stability of different flow measuring devices at the in-line and flow-through position, using simulated neonatal breathing. Methods: Six different flow measure devices were evaluated by recording pressure changes and imposed work of...

Data from: A multi-breed genome-wide association analysis for canine hypothyroidism identifies a shared major risk locus on CFA12

Matteo Bianchi, Stina Dahlgren, Jonathan Massey, Elisabeth Dietschi, Marcin Kierczak, Martine Lund-Ziener, Katarina Sundberg, Stein Istre Thoresen, Olle Kämpe, Göran Andersson, William E. R. Ollier, Åke Hedhammar, Tosso Leeb, Kerstin Lindblad-Toh, Lorna J. Kennedy, Frode Lingaas & Gerli Rosengren Pielberg
Bianchi, Dahlgren et al., Canine Hypothyroidism data

Data from: Structural alterations of the social brain: a comparison between schizophrenia and autism

Daniel Radeloff, Angela Ciaramidaro, Sabine Schlitt, Sven Bölte, Fritz Poustka, Daniela Hainz, Bernhard Weber, Michael Siniatchkin, Henrik Walter & Christine Margarete Freitag
Autism spectrum disorder and schizophrenia share a substantial number of etiologic and phenotypic characteristics. Still, no direct comparison of both disorders has been performed to identify differences and commonalities in brain structure. In this voxel based morphometry study, 34 patients with autism spectrum disorder, 21 patients with schizophrenia and 26 typically developed control subjects were included to identify global and regional brain volume alterations. No global gray matter or white matter differences were found between...

Biological subtypes of Alzheimer’s disease: a systematic review and meta-analysis

Daniel Ferreira, Agneta Nordberg & Eric Westman
Objective: We conducted a systematic review and meta-analysis on subtype studies of Alzheimer’s disease (AD) based on postmortem and neuroimaging data, with the ultimate goal of advancing our understanding of mechanisms driving heterogeneity in AD. Methods: EMBASE, PubMed and Web of Science databases were consulted until July 2019. Results: Neuropathology and neuroimaging studies have consistently identified three subtypes of AD based on the distribution of tau-related pathology and regional brain atrophy: typical, limbic-predominant, and hippocampal-sparing...

Supplementary materials for: Influence of cognitive reserve on cognitive trajectories: role of brain pathologies

Xuerui Li, Ruixue Song, Xiuying Qi, Hui Xu, Wenzhe Yang, Miia Kivipelto, David A. Bennett & Weili Xu
Background and Objectives: Evidence on the association of the cognitive reserve (CR) with the cognitive trajectories is limited. We aimed to examine the influence of CR indicator on domain-specific cognitive trajectories taking brain pathologies into account. Methods: Within the Rush Memory and Aging Project, 1,697 dementia-free participants (mean age: 79.6 years) were followed up to 21 years. CR indicator encompassing education, early-life, mid-life, and late-life cognitive activities, and late-life social activity was ascertained at baseline...

Supplementary materials for: Long term effects of cholinesterase inhibitors on cognitive decline and mortality

Hong Xu, Sara Garcia-Ptacek, Linus Jönsson, Wimo Anders, Nordström Peter & Maria Eriksdotter
Objective: Cholinesterase inhibitors (ChEIs) are the mainstay treatment of Alzheimer’s dementia (AD), but their long-term effectiveness is uncertain. This study aims is to investigate whether ChEIs are associated with slower cognitive decline in AD, and decreased risk of severe dementia or death. Methods: AD patients from the Swedish Dementia Registry (SveDem) starting on ChEIs within three months of the dementia diagnosis were included and compared to non-treated AD patients. In a propensity score matched cohort,...

Data from: Lipids, apolipoproteins, and prognosis of amyotrophic lateral sclerosis

Fang Fang
Objective To determine whether lipids and apolipoproteins predict prognosis of patients with amyotrophic lateral sclerosis in a cohort study of 99 amyotrophic lateral sclerosis patients who were diagnosed during 2015-2018 and followed until October 31, 2018, at the Neurology Clinic in Karolinska University Hospital in Stockholm, Sweden. Methods Total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglyceride, apolipoprotein A-I, apolipoprotein B, and lipid ratios were measured at the time of amyotrophic lateral sclerosis diagnosis or...

Data from: Correcting for cell-type effects in DNA methylation studies: reference-based method outperforms latent variable approaches in empirical studies

Mohammad W. Hattab, Andrey A. Shabalin, Shaunna L. Clark, Min Zhao, Gaurav Kumar, Robin F. Chan, Lin Ying Xie, Rick Jansen, Laura K. M. Han, Patrik K. E. Magnusson, Gerard Van Grootheest, Christina M. Hultman, Brenda W. J. H. Penninx, Karolina A. Aberg & Edwin J. C. G. Van Den Oord
Based on an extensive simulation study, McGregor and colleagues recently recommended the use of surrogate variable analysis (SVA) to control for the confounding effects of cell-type heterogeneity in DNA methylation association studies in scenarios where no cell-type proportions are available. As their recommendation was mainly based on simulated data, we sought to replicate findings in two large-scale empirical studies. In our empirical data, SVA did not fully correct for cell-type effects, its performance was somewhat...

Data from: Genome-Wide Analyses Suggest Mechanisms Involving Early B-Cell Development in Canine IgA Deficiency

Mia Olsson, Katarina Tengvall, Marcel Frankowiack, Marcin Kierczak, Kerstin Bergvall, Erik Axelsson, Linda Tintle, Eliane Marti, Petra Roosje, Tosso Leeb, Åke Hedhammar, Lennart Hammarström & Kerstin Lindblad-Toh
Immunoglobulin A deficiency (IgAD) is the most common primary immune deficiency disorder in both humans and dogs, characterized by recurrent mucosal tract infections and a predisposition for allergic and other immune mediated diseases. In several dog breeds, low IgA levels have been observed at a high frequency and with a clinical resemblance to human IgAD. In this study, we used genome-wide association studies (GWAS) to identify genomic regions associated with low IgA levels in dogs...

Data from: The constrained maximal expression level owing to haploidy shapes gene content on the mammalian X chromosome

Laurence D. Hurst, Avazeh T. Ghanbarian, Alistair R. R. Forrest, Fantom Consortium & Lukasz Huminiecki
X chromosomes are unusual in many regards, not least of which is their nonrandom gene content. The causes of this bias are commonly discussed in the context of sexual antagonism and the avoidance of activity in the male germline. Here, we examine the notion that, at least in some taxa, functionally biased gene content may more profoundly be shaped by limits imposed on gene expression owing to haploid expression of the X chromosome. Notably, if...

Registration Year

  • 2021
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  • Karolinska Institute
  • Karolinska University Hospital
  • Stockholm University
  • Uppsala University
  • University of Glasgow
  • Lund University
  • University of Cambridge
  • University of Gothenburg
  • University of Helsinki
  • Umeå University