Multi-omics datasets represent distinct aspects of the central dogma of molecular biology. Such high-dimensional molecular profiles pose challenges to data interpretation and hypothesis generation. ActivePathways is an integrative method that discovers significantly enriched pathways across multiple datasets using statistical data fusion, rationalizes contributing evidence and highlights associated genes. As part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancers across 38 tumor types, we integrated...

Background:There is limited and inconsistent information on the prevalence of cognitive impairment in neuromyelitis optica spectrum disorders (NMOSD).Objective:To assess cognitive performance and changes over time in NMOSD.Methods:This study included data from 217 aquaporin-4-IgG-seropositive (80%) and double-seronegative NMOSD patients. Cognitive functions measured by Symbol Digit Modalities Test (SDMT), Paced Auditory Serial-Addition Task (PASAT), and/or Multiple Sclerosis Inventory Cognition (MuSIC) were standardized against normative data (N = 157). Intraindividual cognitive performance at 1- and 2-year follow-up was...

qPCR primers, model parameter estimates

Supplemental material, sj-doc-1-msj-10.1177_13524585231155639 for Cerebrospinal fluid–related tissue damage in multiple sclerosis patients with iron rim lesions by Matthias Wittayer, Claudia E Weber, Maximilian Kittel, Michael Platten, Lucas Schirmer, Hayrettin Tumani, Achim Gass and Philipp Eisele in Multiple Sclerosis Journal

Supplemental material, sj-docx-3-tan-10.1177_17562864221143834 for Parkinson’s disease or multiple system atrophy: potential separation by quantitative susceptibility mapping by Franz Marxreiter, Vera Lambrecht, Angelika Mennecke, Jannis Hanspach, Jelena Jukic, Martin Regensburger, Juergen Herrler, Alexander German, Jan Kassubek, Georg Grön, Hans-Peter Müller, Frederik B. Laun, Arnd Dörfler, Juergen Winkler and Manuel A. Schmidt in Therapeutic Advances in Neurological Disorders

Left ventricular function in athletes after COVID-19 was assessed by strain measurement. GLS was significantly lower and diastolic function significantly reduced in athletes who did not have a history of LV dysfunction but had a positive COVID-19 test compared with healthy control athletes. We found no association between GLS and acute symptoms during COVID-19. GLS determination could be used as a screening element for early detection of myocardial dysfunction during return-to-sport examinations.

Supplemental material, sj-docx-1-eso-10.1177_23969873231164728 for Genetic liability to migraine and functional outcome after ischemic stroke by Mengmeng Wang, Iyas Daghlas, Zhizhong Zhang, Dan Ye, Shun Li and Dandan Liu in European Stroke Journal

Containing all supplementary tables, figures as well as additional methods

Insects are under pressure from agricultural intensification. To protect pollinators, conservation measures such as the EU agri-environment schemes (AES) promote planting wildflowers along fields. However, this can potentially alter disease ecology by serving as transmission hubs or by diluting infections. We tested this by measuring plant-pollinator interactions and virus infections (DWV-A, DWV-B and ABPV) across pollinator communities in agricultural landscapes over a year. AES had a direct effect on DWV-B, reducing prevalence and load in...

Supplemental material, sj-tiff-2-tan-10.1177_17562864221143834 for Parkinson’s disease or multiple system atrophy: potential separation by quantitative susceptibility mapping by Franz Marxreiter, Vera Lambrecht, Angelika Mennecke, Jannis Hanspach, Jelena Jukic, Martin Regensburger, Juergen Herrler, Alexander German, Jan Kassubek, Georg Grön, Hans-Peter Müller, Frederik B. Laun, Arnd Dörfler, Juergen Winkler and Manuel A. Schmidt in Therapeutic Advances in Neurological Disorders

Background:Due to the absence of robust biomarkers, and the low sensitivity and specificity of routine imaging techniques, the differential diagnosis between Parkinson’s disease (PD) and multiple system atrophy (MSA) is challenging. High-field magnetic resonance imaging (MRI) opened up new possibilities regarding the analysis of pathological alterations associated with neurodegenerative processes. Recently, we have shown that quantitative susceptibility mapping (QSM) enables visualization and quantification of two major histopathologic hallmarks observed in MSA: reduced myelin density and...

Background:Due to the absence of robust biomarkers, and the low sensitivity and specificity of routine imaging techniques, the differential diagnosis between Parkinson’s disease (PD) and multiple system atrophy (MSA) is challenging. High-field magnetic resonance imaging (MRI) opened up new possibilities regarding the analysis of pathological alterations associated with neurodegenerative processes. Recently, we have shown that quantitative susceptibility mapping (QSM) enables visualization and quantification of two major histopathologic hallmarks observed in MSA: reduced myelin density and...

Supplementary Figures S1-S11

Background:In multiple sclerosis (MS), iron rim lesions (IRLs) are associated with pronounced tissue damage, higher disease severity and have been suggested as an imaging marker of chronic active inflammation behind the blood–brain barrier indicating progression. Furthermore, chronic intrathecal compartmentalized inflammation has been suggested to be a mediator of a cerebrospinal fluid (CSF)–related tissue damage.Objective:To investigate CSF markers of intrathecal inflammation in patients with at least one IRL compared to patients without IRLs and to investigate...

The discovery of driver mutations is one of the key motivations for cancer genome sequencing. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancers across 38 tumour types, we describe DriverPower, a software package that uses mutational burden and functional impact evidence to identify driver mutations in coding and non-coding sites within cancer whole genomes. Using a total of 1373 genomic features...

Multi-omics datasets represent distinct aspects of the central dogma of molecular biology. Such high-dimensional molecular profiles pose challenges to data interpretation and hypothesis generation. ActivePathways is an integrative method that discovers significantly enriched pathways across multiple datasets using statistical data fusion, rationalizes contributing evidence and highlights associated genes. As part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancers across 38 tumor types, we integrated...

The catalog of cancer driver mutations in protein-coding genes has greatly expanded in the past decade. However, non-coding cancer driver mutations are less well-characterized and only a handful of recurrent non-coding mutations, most notably TERT promoter mutations, have been reported. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancer across 38 tumor types, we perform multi-faceted pathway and network analyses of non-coding...

The catalog of cancer driver mutations in protein-coding genes has greatly expanded in the past decade. However, non-coding cancer driver mutations are less well-characterized and only a handful of recurrent non-coding mutations, most notably TERT promoter mutations, have been reported. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancer across 38 tumor types, we perform multi-faceted pathway and network analyses of non-coding...

Objective: The goal of this meta-analysis is to improve insight into the development of cognition over the course of ALS and to assess predictors of cognitive performance. Method: A literature search was conducted in Pubmed and Web of Science on 29 July 2019 and 16 March 2021. Data were screened in Endnote® Version X9 (London, UK). Meta-analyses and meta-regressions were calculated for cross-sectional data using Rstudio®. Studies were assigned to temporal and physical categories and...

Supplemental material, sj-tiff-1-tan-10.1177_17562864221143834 for Parkinson’s disease or multiple system atrophy: potential separation by quantitative susceptibility mapping by Franz Marxreiter, Vera Lambrecht, Angelika Mennecke, Jannis Hanspach, Jelena Jukic, Martin Regensburger, Juergen Herrler, Alexander German, Jan Kassubek, Georg Grön, Hans-Peter Müller, Frederik B. Laun, Arnd Dörfler, Juergen Winkler and Manuel A. Schmidt in Therapeutic Advances in Neurological Disorders

Supplemental material, sj-tiff-1-tan-10.1177_17562864221143834 for Parkinson’s disease or multiple system atrophy: potential separation by quantitative susceptibility mapping by Franz Marxreiter, Vera Lambrecht, Angelika Mennecke, Jannis Hanspach, Jelena Jukic, Martin Regensburger, Juergen Herrler, Alexander German, Jan Kassubek, Georg Grön, Hans-Peter Müller, Frederik B. Laun, Arnd Dörfler, Juergen Winkler and Manuel A. Schmidt in Therapeutic Advances in Neurological Disorders

Supplemental material, sj-docx-3-tan-10.1177_17562864221143834 for Parkinson’s disease or multiple system atrophy: potential separation by quantitative susceptibility mapping by Franz Marxreiter, Vera Lambrecht, Angelika Mennecke, Jannis Hanspach, Jelena Jukic, Martin Regensburger, Juergen Herrler, Alexander German, Jan Kassubek, Georg Grön, Hans-Peter Müller, Frederik B. Laun, Arnd Dörfler, Juergen Winkler and Manuel A. Schmidt in Therapeutic Advances in Neurological Disorders

Supplemental material, sj-tiff-2-tan-10.1177_17562864221143834 for Parkinson’s disease or multiple system atrophy: potential separation by quantitative susceptibility mapping by Franz Marxreiter, Vera Lambrecht, Angelika Mennecke, Jannis Hanspach, Jelena Jukic, Martin Regensburger, Juergen Herrler, Alexander German, Jan Kassubek, Georg Grön, Hans-Peter Müller, Frederik B. Laun, Arnd Dörfler, Juergen Winkler and Manuel A. Schmidt in Therapeutic Advances in Neurological Disorders

Many primary tumours have low levels of molecular oxygen (hypoxia), and hypoxic tumours respond poorly to therapy. Pan-cancer molecular hallmarks of tumour hypoxia remain poorly understood, with limited comprehension of its associations with specific mutational processes, non-coding driver genes and evolutionary features. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancers across 38 tumour types, we quantify hypoxia in 1188 tumours spanning...

Supplemental material, sj-docx-1-msj-10.1177_13524585231151212 for Cognition in patients with neuromyelitis optica spectrum disorders: A prospective multicentre study of 217 patients (CogniNMO-Study) by Martin W Hümmert, Carlotta Stern, Friedemann Paul, Ankelien Duchow, Judith Bellmann-Strobl, Ilya Ayzenberg, Carolin Schwake, Ingo Kleiter, Kerstin Hellwig, Sven Jarius, Brigitte Wildemann, Makbule Senel, Achim Berthele, Katrin Giglhuber, Felix Luessi, Matthias Grothe, Luisa Klotz, Rasmus Schülke, Stefan Gingele, Jürgen H Faiss, Annette Walter, Clemens Warnke, Florian Then Bergh, Orhan Aktas, Marius Ringelstein, Jan-Patrick...