6th International Conference on Multimodality - Conference guide with abstracts

The aim of the conference was to contribute to moving forward the field of multimodal research and to help connect the diverse community of scholars working within it. 6ICOM is a place where we can explore the full range of different ways in which multimodality has been taken up and where we can recognize their points of connection. The conference was organised with support from the UK’s Economic and Social Research Council, who fund MODE. MODE is a node of the National Centre for Research Methods based in the Institute of Education and aims to develop and promote multimodal methods for researching digital data and environments. 6ICOM’s programme includes an impressive set of paper presentations (125) and invited keynotes (5). The presenters engage with a wide range of disciplines, ideas and methods, reflecting the diverse character of multimodality and latest developments in the field. They speak to a range of contexts, theoretical and methodological approaches, technologies and types of data

Altitude of the Potentiometric Surface in the Mississippi River Valley Alluvial Aquifer, Spring 2018

The Mississippi River Valley alluvial (MRVA) aquifer is an important surficial aquifer in the Mississippi Alluvial Plain (MAP) area. The aquifer is generally considered to be an unconfined aquifer (fig. 1; Clark and others, 2011), and withdrawals are primarily used for irrigation (Maupin and Barber, 2005). These groundwater withdrawals have resulted in substantial areas of water-level decline in parts of the aquifer. Concerns about water-level declines and the sustainability of the MRVA aquifer have prompted the U.S. Geological Survey (USGS), as part of the USGS Water Availability and Use Science Program and with assistance from other Federal, State, and local agencies, to undertake a regional water-availability study to assess the characteristics of the MRVA aquifer, including the potentiometric-surface altitude of the MRVA aquifer for spring 2018, and to provide information to water managers to inform their decisions about resource allocations and aquifer sustainability. The purpose of this report was to present a potentiometric-surface map for the MRVA aquifer using manually measured groundwater-altitude data and daily mean or maximum groundwater-altitude data from wells measured generally in spring 2018, which is after water levels have substantially recovered from pumping in the previous irrigation season and before pumping begins for the next irrigation season, and using the altitude of the top of the water surface in rivers in the area, hereinafter referred to as “surface-water altitude,” generally on April 10, 2018, from streamgages in the area. The term “potentiometric surface” is used in this report because it is applicable for maps of the groundwater-altitude surface in unconfined, semiconfined, and confined aquifers (Lohman, 1972). In this report, the maps of the MRVA aquifer’s groundwater surface are termed potentiometric-surface maps as opposed to water-table maps because, although the MRVA aquifer generally exhibits characteristics of unconfined conditions, where surface-water features may or may not be hydraulically connected, it also exhibits characteristics of confined or semiconfined conditions in some areas at least during part of the year. The location of these areas, where the aquifer is confined or semiconfined, is not well understood or defined (Arthur, 1994; Kleiss and others, 2000). Datasets used attache

Altitude of the Potentiometric Surface in the Mississippi River Valley Alluvial Aquifer, Spring 2018

The Mississippi River Valley alluvial (MRVA) aquifer is an important surficial aquifer in the Mississippi Alluvial Plain (MAP) area. The aquifer is generally considered to be an unconfined aquifer (fig. 1; Clark and others, 2011), and withdrawals are primarily used for irrigation (Maupin and Barber, 2005). These groundwater withdrawals have resulted in substantial areas of water-level decline in parts of the aquifer. Concerns about water-level declines and the sustainability of the MRVA aquifer have prompted the U.S. Geological Survey (USGS), as part of the USGS Water Availability and Use Science Program and with assistance from other Federal, State, and local agencies, to undertake a regional water-availability study to assess the characteristics of the MRVA aquifer, including the potentiometric-surface altitude of the MRVA aquifer for spring 2018, and to provide information to water managers to inform their decisions about resource allocations and aquifer sustainability. The purpose of this report was to present a potentiometric-surface map for the MRVA aquifer using manually measured groundwater-altitude data and daily mean or maximum groundwater-altitude data from wells measured generally in spring 2018, which is after water levels have substantially recovered from pumping in the previous irrigation season and before pumping begins for the next irrigation season, and using the altitude of the top of the water surface in rivers in the area, hereinafter referred to as “surface-water altitude,” generally on April 10, 2018, from streamgages in the area. The term “potentiometric surface” is used in this report because it is applicable for maps of the groundwater-altitude surface in unconfined, semiconfined, and confined aquifers (Lohman, 1972). In this report, the maps of the MRVA aquifer’s groundwater surface are termed potentiometric-surface maps as opposed to water-table maps because, although the MRVA aquifer generally exhibits characteristics of unconfined conditions, where surface-water features may or may not be hydraulically connected, it also exhibits characteristics of confined or semiconfined conditions in some areas at least during part of the year. The location of these areas, where the aquifer is confined or semiconfined, is not well understood or defined (Arthur, 1994; Kleiss and others, 2000). Datasets used attache

Mechanical adaptation of brachiopod shells via hydration-induced structural changes.

The function-optimized properties of biominerals arise from the hierarchical organization of primary building blocks. Alteration of properties in response to environmental stresses generally involves time-intensive processes of resorption and reprecipitation of mineral in the underlying organic scaffold. Here, we report that the load-bearing shells of the brachiopod Discinisca tenuis are an exception to this process. These shells can dynamically modulate their mechanical properties in response to a change in environment, switching from hard and stiff when dry to malleable when hydrated within minutes. Using ptychographic X-ray tomography, electron microscopy and spectroscopy, we describe their hierarchical structure and composition as a function of hydration to understand the structural motifs that generate this adaptability. Key is a complementary set of structural modifications, starting with the swelling of an organic matrix on the micron level via nanocrystal reorganization and ending in an intercalation process on the molecular level in response to hydration

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

Myofibrillar myopathies (MFM) are a group of phenotypically and genetically heterogeneous neuromuscular disorders, which are characterized by protein aggregations in muscle fibres and can be associated with multisystemic involvement.Methods We screened a large cohort of 38 index patients with MFM for mutations in the nine thus far known causative genes using Sanger and next generation sequencing (NGS). We studied the clinical and histopathological characteristics in 38 index patients and five additional relatives (n = 43) and particularly focused on the associated multisystemic symptoms.Results We identified 14 heterozygous mutations (diagnostic yield of 37%), among them the novel p.Pro209Gln mutation in the BAG3 gene, which was associated with onset in adulthood, a mild phenotype and an axonal sensorimotor polyneuropathy, in the absence of giant axons at the nerve biopsy. We revealed several novel clinical phenotypes and unusual multisystemic presentations with previously described mutations: hearing impairment with a FLNC mutation, dysphonia with a mutation in DES and the first patient with a FLNC mutation presenting respiratory insufficiency as the initial symptom. Moreover, we described for the first time respiratory insufficiency occurring in a patient with the p.Gly154Ser mutation in CRYAB. Interestingly, we detected a polyneuropathy in 28% of the MFM patients, including a BAG3 and a MYOT case, and hearing impairment in 13%, including one patient with a FLNC mutation and two with mutations in the DES gene. In four index patients with a mutation in one of the MFM genes, typical histological findings were only identified at the ultrastructural level (29%).Conclusions We conclude that extraskeletal symptoms frequently occur in MFM, particularly cardiac and respiratory involvement, polyneuropathy and/or deafness. BAG3 mutations should be considered even in cases with a mild phenotype or an adult onset. We identified a genetic defect in one of the known genes in less than half of the MFM patients, indicating that more causative genes are still to be found. Next generation sequencing techniques should be helpful in achieving this aim

Expanding the importance of HMERF titinopathy : new mutations and clinical aspects

ObjectiveHereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and considered quite rare. Respiratory insufficiency is an early symptom. A collection of families and patients with muscle disease suggestive of HMERF was clinically and genetically studied.MethodsAltogether 12 new families with 19 affected patients and diverse nationalities were studied. Most of the patients were investigated using targeted next-generation sequencing; Sanger sequencing was applied in some of the patients and available family members. Histological data and muscle MRI findings were evaluated.ResultsThree families had several family members studied while the rest were single patients. Most patients had distal and proximal muscle weakness together with respiratory insufficiency. Five heterozygous TTN A-band mutations were identified of which two were novel. Also with the novel mutations the muscle pathology and imaging findings were compatible with the previous reports of HMERF.ConclusionsOur collection of 12 new families expands mutational spectrum with two new mutations identified. HMERF is not that rare and can be found worldwide, but maybe underdiagnosed. Diagnostic process seems to be complex as this study shows with mostly single patients without clear dominant family history.Peer reviewe

Why sequence all eukaryotes?

Life on Earth has evolved from initial simplicity to the astounding complexity we experience today. Bacteria and archaea have largely excelled in metabolic diversification, but eukaryotes additionally display abundant morphological innovation. How have these innovations come about and what constraints are there on the origins of novelty and the continuing maintenance of biodiversity on Earth? The history of life and the code for the working parts of cells and systems are written in the genome. The Earth BioGenome Project has proposed that the genomes of all extant, named eukaryotes-about 2 million species-should be sequenced to high quality to produce a digital library of life on Earth, beginning with strategic phylogenetic, ecological, and high-impact priorities. Here we discuss why we should sequence all eukaryotic species, not just a representative few scattered across the many branches of the tree of life. We suggest that many questions of evolutionary and ecological significance will only be addressable when whole-genome data representing divergences at all of the branchings in the tree of life or all species in natural ecosystems are available. We envisage that a genomic tree of life will foster understanding of the ongoing processes of speciation, adaptation, and organismal dependencies within entire ecosystems. These explorations will resolve long-standing problems in phylogenetics, evolution, ecology, conservation, agriculture, bioindustry, and medicine

High-Grade B-cell Lymphoma, Not Otherwise Specified: A Multi-Institutional Retrospective Study

In this multi-institutional retrospective study, we examined the characteristics and outcomes of 160 patients with high-grade B-cell lymphoma, not otherwise specified (HGBL-NOS)-a rare category defined by high-grade morphologic features and lack of MYC rearrangements with BCL2 and/or BCL6 rearrangements ( double hit ). Our results show that HGBL-NOS tumors are heterogeneous: 83% of patients had a germinal center B-cell immunophenotype, 37% a dual-expressor immunophenotype (MYC and BCL2 expression), 28% MYC rearrangement, 13% BCL2 rearrangement, and 11% BCL6 rearrangement. Most patients presented with stage IV disease, a high serum lactate dehydrogenase, and other high-risk clinical factors. Most frequent first-line regimens included dose-adjusted cyclophosphamide, doxorubicin, vincristine, and etoposide, with rituximab and prednisone (DA-EPOCH-R; 43%); rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP; 33%); or other intensive chemotherapy programs. We found no significant differences in the rates of complete response (CR), progression-free survival (PFS), or overall survival (OS) between these chemotherapy regimens. CR was attained by 69% of patients. PFS at 2 years was 55.2% and OS was 68.1%. In a multivariable model, the main prognostic factors for PFS and OS were poor performance status, lactate dehydrogenase \u3e3 × upper limit of normal, and a dual-expressor immunophenotype. Age \u3e60 years or presence of MYC rearrangement were not prognostic, but patients with TP53 alterations had a dismal PFS. Presence of MYC rearrangement was not predictive of better PFS in patients treated with DA-EPOCH-R vs R-CHOP. Improvements in the diagnostic criteria and therapeutic approaches beyond dose-intense chemotherapy are needed to overcome the unfavorable prognosis of patients with HGBL-NOS

Motor, cognitive and mobility deficits in 1000 geriatric patients : protocol of a quantitative observational study before and after routine clinical geriatric treatment – the ComOn-study

© The Author(s). 2020 Open Access. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.Background: Motor and cognitive deficits and consequently mobility problems are common in geriatric patients. The currently available methods for diagnosis and for the evaluation of treatment in this vulnerable cohort are limited. The aims of the ComOn (COgnitive and Motor interactions in the Older populatioN) study are (i) to define quantitative markers with clinical relevance for motor and cognitive deficits, (ii) to investigate the interaction between both motor and cognitive deficits and (iii) to assess health status as well as treatment outcome of 1000 geriatric inpatients in hospitals of Kiel (Germany), Brescia (Italy), Porto (Portugal), Curitiba (Brazil) and Bochum (Germany). Methods: This is a prospective, explorative observational multi-center study. In addition to the comprehensive geriatric assessment, quantitative measures of reduced mobility and motor and cognitive deficits are performed before and after a two week's inpatient stay. Components of the assessment are mobile technology-based assessments of gait, balance and transfer performance, neuropsychological tests, frailty, sarcopenia, autonomic dysfunction and sensation, and questionnaires to assess behavioral deficits, activities of daily living, quality of life, fear of falling and dysphagia. Structural MRI and an unsupervised 24/7 home assessment of mobility are performed in a subgroup of participants. The study will also investigate the minimal clinically relevant change of the investigated parameters. Discussion: This study will help form a better understanding of symptoms and their complex interactions and treatment effects in a large geriatric cohort.info:eu-repo/semantics/publishedVersio