bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family
Authors: Fay Alexander , Garcia Yngo , Margeta Marta , Maharjan Sunita , Jürgensen Claudia , Briceño Jose , Garcia Mariaelena , Yin Sitao , Bassaganyas Laia , McMahon Thomas , Hou Ya‐Ming , Fu Ying‐Hui , Ptáček Louis J. 
Published: July 2020

ObjectiveThe objective of this study was to identify the genetic cause for progressive peripheral nerve disease in a Venezuelan family. Despite the growing list of genes associated with Charcot‐Marie‐Tooth disease, many patients with axonal forms lack a genetic diagnosis.MethodsA pedigree was constructed, based on family clinical data. Next‐generation sequencing of mitochondrial DNA (mtDNA) was performed for 6 affected family members. Muscle biopsies from 4 family members were used for analysis of muscle histology and ultrastructure, mtDNA sequencing, and RNA quantification. Ultrastructural studies were performed on sensory nerve biopsies from 2 affected family members.ResultsElectrodiagnostic testing showed a motor and sensory axonal polyneuropathy. Pedigree analysis revealed inheritance only through the maternal line, consistent with mitochondrial transmission. Sequencing of mtDNA identified a mutation in the mitochondrial tRNAVal (mt‐tRNAVal) gene, m.1661A>G, present at nearly 100% heteroplasmy, which disrupts a Watson–Crick base pair in the T‐stem‐loop. Muscle biopsies showed chronic denervation/reinnervation changes, whereas biochemical analysis of electron transport chain (ETC) enzyme activities showed reduction in multiple ETC complexes. Northern blots from skeletal muscle total RNA showed severe reduction in abundance of mt‐tRNAVal, and mildly increased mt‐tRNAPhe, in subjects compared with unrelated age‐ and sex‐matched controls. Nerve biopsies from 2 affected family members demonstrated ultrastructural mitochondrial abnormalities (hyperplasia, hypertrophy, and crystalline arrays) consistent with a mitochondrial neuropathy.ConclusionWe identify a previously unreported cause of Charcot‐Marie‐Tooth (CMT) disease, a mutation in the mt‐tRNAVal, in a Venezuelan family. This work expands the list of CMT‐associated genes from protein‐coding genes to a mitochondrial tRNA gene. ANN NEUROL 2020;88:830–842
What over 100 drillings tell us: a new method for determining the Koenigsberger ratio of soils from magnetic mapping and susceptibility logging
Authors: Pickartz Natalie , Rabbel Wolfgang , Rassmann Knut , Müller‐Scheeßel Nils , Furholt Martin , Müller Johannes , Cheben Ivan , Wilken Dennis , Wunderlich Tina , Dreibrodt Stefan 
Published: July 2020

AbstractWe investigate the relative fractions of remanent and induced magnetization of the fillings of neolithic long pits in order to develop remanent magnetization as an additional parameter for the archaeological interpretation of magnetic maps. We determine the Koenigsberger ratio – the ratio between induced and remanent magnetization intensities – for key targets by combining magnetic mapping with downhole measurements of susceptibility, numerical modelling, and inversion computations. The susceptibility data were acquired in drill holes along profiles crossing the targets identified by magnetic mapping. The targets of this exemplary study are house‐accompanying pits at the Linearbandkeramik site Vráble ‘Farské’. For this purpose, we conducted auger drillings with a point distance of 25 cm and measured the susceptibility with a downhole susceptometer. The resulting two‐dimensional susceptibility distributions were used to calculate synthetic magnetic anomalies corresponding to the case of solely induced magnetization. The comparison to the observed magnetic data showed a considerable discrepancy that can only be explained with remanent magnetization. To determine the Koenigsberger ratio we developed a new interpretation approach, using parts of the measured susceptibility distribution as a basis function. The free parameters of this numerical problem are determined by non‐linear inversion. We applied the novel approach to six exemplary profiles and found Koenigsberger ratios between 1.6 and 10.5 with the majority of the values being smaller than 4. These values apply to soil volumes with susceptibility values larger than 27–160 × 10‐5 SI. Laboratory measurements on soil samples were used to examine the possible causes of the observed magnetization. The analyses suggest that the increase in susceptibility and remanent magnetization in the pits is caused by an increase of the population of magnetotactic bacteria and deposition of magnetized material, followed by the alignment of the ferrimagnetic iron compounds in the waterlogged environment of the pits and accumulation of viscous remanent magnetization.
Integrating research into a molecular cloning course to address the evolving biotechnology landscape
Authors: Garcia Christina B. , Chapman Ian F. , Chen Stefanie H. , Lazear Eric , Lentz Thomas B. , Williams Christina , Dums Jacob T. , Goller Carlos C. , Robertson Sabrina D. 
Published: July 2020

AbstractThe rapid development of molecular biotechnology presents a curricular challenge for educators trying to provide students with relevant coursework. A comprehensive biology education should also include opportunities for students to develop intellectual and technical skills through authentic research experiences. Integrating relevant and interesting research projects into their classes, however, can be a challenging task for instructors. To address these varied demands, we redesigned our existing molecular cloning course to incorporate an independent research project assessing calcium signaling. In the revised course, students use traditional and recombination‐based cloning strategies to generate bacterial and mammalian expression vectors encoding CaMPARI, a novel fluorescent calcium indicator. Bacterially‐expressed CaMPARI is used in protein quantification and purification assays. Students must also design their own research project evaluating the effect of chemotherapeutic agents on calcium signaling in a mammalian system. Revised and novel labs were designed to be modular, facilitating their integration into the course over 2 years. End‐of‐semester student evaluations were compared between years revealing a significant difference in students' perception of the course's difficulty between years. This change in attitude highlights potential pedagogical considerations that must be examined when introducing new material and activities into existing courses. Since calcium signaling is important for cellular process across diverse species, instructors may be able to develop research projects within their respective areas of interest. Integration of authentic research experiences into the curriculum is challenging; however, the framework described here provides a versatile structure that can be adapted to merge diverse instructor interests with evolving educational needs.
Insulin‐like growth factor‐1 and site‐specific cancers: A Mendelian randomization study
Authors: Larsson Susanna C. , Carter Paul , Vithayathil Mathew , Kar Siddhartha , Mason Amy M. , Burgess Stephen 
Published: July 2020

AbstractInsulin‐like growth factor‐1 (IGF‐1) is involved in several processes relevant to carcinogenesis. We used 416 single‐nucleotide polymorphisms robustly associated with serum IGF‐1 levels to assess the potential causal associations between this hormone and site‐specific cancers through Mendelian randomization. Summary‐level genetic association estimates for prostate, breast, ovarian, and lung cancer were obtained from large‐scale consortia including individuals of European‐descent. Furthermore, we estimated genetic associations with 14 site‐specific cancers in European‐descent individuals in UK Biobank. Supplementary analyses were conducted for six site‐specific cancers using summary‐level data from the BioBank Japan Project. Genetically predicted serum IGF‐1 levels were associated with colorectal cancer. The odds ratio (OR) per standard deviation increase of IGF‐1 levels was 1.11 (95% confidence interval [CI] 1.01‐1.22; P = .03) in UK Biobank and 1.22 (95% CI 1.09‐1.36; P = 3.9 × 10−4) in the BioBank Japan Project. For prostate cancer, the corresponding OR was 1.10 (95% CI 1.01‐1.21; P = .04) in UK Biobank, 1.03 (95% CI 0.97‐1.09; P = .41) in the prostate cancer consortium, and 1.08 (95% CI 0.95‐1.22; P = .24) in the BioBank Japan Project. For breast cancer, the corresponding OR was 0.99 (95% CI 0.92‐1.07; P = .85) in UK Biobank and 1.08 (95% CI 1.02‐1.13; P = 4.4 × 10−3) in the Breast Cancer Association Consortium. There was no statistically significant association between genetically predicted IGF‐1 levels and 14 other cancers. This study found some support for a causal association between elevated serum IGF‐1 levels and increased risk of colorectal cancer. There was inconclusive or no evidence of a causal association of IGF‐1 levels with prostate, breast, and other cancers.
Periodontal Risk Assessment Based on Dental and Gingival Morphology: A Comparative Analysis of African Versus Asian American Cohorts
Authors: Hsu Yung‐Ting , Huang Nan‐Chieh , Wong Adrienne , Cobb Charles , Lee Samantha , Mikail Yasmin , Kao Richard T. 
Published: July 2020

Focused Clinical QuestionWith the 2018 AAP/EFP disease classification with the staging and grading systems, does risk assessment for different ethnic group result in a different focus for clinical needs? This comparative analysis aimed to assess two previously reported cohort studies in African‐American (Af‐A) and Asian‐American (As‐A) as to the risk for these two populations for clinical attachment loss (CAL) and gingival phenotype.SummaryIn comparison of As‐A and Af‐A cohorts, As‐A had higher frequency of thin tissue phenotype, less width of keratinized gingiva (KGW), and more gingival recession (GR). On other hands, Af‐A showed higher prevalence of thick phenotype, longer total tooth length and root length (RL). These gingival and dental anatomical patterns suggest there are differential risk for GR, patterns for CAL, and periodontal prognosis between two cohorts.Conclusion(s)Because of nature of dental and gingival anatomy between these two cohorts, As‐A are more susceptible in GR and the short RL affords this population less ability to withstand the clinical presentation of periodontal disease. From a therapeutic perspective, clinicians should evaluate patients with different risk assessment based on their dental and gingival characterization. Af‐A may have clinical characteristics that makes this population less at risk for mucogingival defects. Conversely, phenotype modification therapy should be considered when treating As‐A because of the high prevalence of thin tissue phenotype, inadequate KGW, and GR. Clinicians should also diligently monitor periodontal CAL around the teeth with shorter RL in periodontal or orthodontic therapy for better teeth prognosis.
An exploratory qualitative study of values issues associated with training and practice in pluralistic counselling
Authors: Tilley Ellen , McLeod Julia , McLeod John 
Published: July 2020

AbstractBackgroundA pluralistic model of practice has become increasingly influential in recent years. A distinctive feature of this approach is its explicit grounding within a philosophical and moral perspective.AimThe aim of this study was to investigate issues and challenges that pluralistic counsellors experience in relation to values dilemmas that arise in practice.MethodologyTwelve practitioners, of various experience levels, who identified as pluralistic counsellors, were invited to take part in semi‐structured interviews. Transcripts were analysed using a method of thematic analysis.FindingsParticipants viewed their personal values to be compatible with the values that they perceived pluralistic counselling to hold, and reported that they chose pluralism as a modality because they found a similarity between their personal values and the values of pluralistic counselling. Core values associated with pluralistic practice included the following: the importance of connection, ‘there is no one right way to be’, equality (not taking an expert role), honesty, and willingness to make use of research evidence. Participants also described value dilemmas, and their use of supervision in dealing with value issues.ImplicationsThe implications of these findings for training, research and practice are discussed.
Iron and Manganese Containing Multi‐Walled Carbon Nanotubes as Electrocatalysts for the Oxygen Evolution Reaction ‐ Unravelling Influences on Activity and Stability
Authors: Broicher Cornelia , Zeng Feng , Pfänder Norbert , Frisch Marvin , Bisswanger Timo , Radnik Jörg , Stockmann Jörg Manfred , Palkovits Stefan , Beine Anna Katharina , Palkovits Regina 
Published: July 2020

AbstractHydrogen economy is a central aspect of future energy supply, as hydrogen can be used as energy storage and fuel. In order to make water electrolysis efficient, the limiting oxygen evolution reaction (OER) needs to be optimized. Therefore, C‐based composite materials containing earth‐abundant Fe and Mn were synthesized, characterized and tested in the OER. For pyrolysis temperatures above 700 °C N‐rich multi‐walled carbon nanotubes (MWCNT) are obtained. Inside the tubes Fe3C particles are formed, Fe and Mn oxides are incorporated in the carbon matrix and metal spinel nanoparticles cover the outer surface. The best catalyst prepared at 800 °C achieves a low overpotential of 389 mV (at 10 mA/cm2) and high stability (22.6 h). From electrochemical measurements and characterization it can be concluded that the high activity is mainly provided by MWCNT, Fe3C and the metal oxides in the conductive carbon matrix. The metal spinel nanoparticles in contrast protect the MWCNT from oxidation and thereby contribute to the high stability.
Carbon2Polymer: A CO2‐based Route to Polyurethanes via Oxidative Carbonylation of TDA with Methyl Formate
Authors: Hussong Christine , Langanke Jens , Leitner Walter 
Published: July 2020

AbstractThe Carbon2Polymer project involves a multistep reaction sequence for the non‐phosgene synthesis of the high‐value polymer precursor toluene‐2,4‐diisocyanate (TDI) starting from carbon dioxide. The present study of the oxidative carbonylation revealed that for the intermediate toluene‐2,4‐dicarbamate (TDC) the productivity is highest with Pd@ZrO2, followed by Pd@CeO2. As one of the side products which are formed in parallel and consecutive reactions the methylene‐bridged dimer “TDCCH2TDC” (5) has a promising potential for industrial application.
Mathematical Modelling in Chemistry Lessons
Authors: Goldhausen Ines , Di Fuccia David‐Samuel 
Published: July 2020

AbstractBeim mathematischen Modellieren im Chemieunterricht wird ein Prozess durchlaufen, in dem die Lernenden selbst mathematische Modelle zur Beschreibung und Klärung eines chemischen Sachverhaltes entwickeln und nutzen.Als Grundlage für eine differenzierte Betrachtung dieses Prozesses und seiner Relevanz für das Lernen von Chemie wird im Rahmen dieses Artikels ein Modell vorgestellt, das verdeutlicht, aus welchen Teilschritten der Modellierungsprozess überhaupt besteht und somit detaillierte Rückschlüsse darüber ermöglicht, mit welchen Problemen er beim Lernen von Chemie speziell verbunden ist [25]. Anschließend werden die Schülerschwierigkeiten in den Blick genommen, die mit dem Einsatz von Aufgaben im Chemieunterricht, die eine mathematische Modellierung verlangen, einhergehen: Vorgestellt werden die Ergebnisse einer Videostudie, die einen Einblick in die Denkprozesse der Lernenden beim mathematischen Modellieren im Chemieunterricht erlaubt.
Recovering figure‐ground perception in Tehran's color plan
Authors: Asarzadeh Karim , Ghazanfari Paymane , Gholinejad Pirbazari Alireza 
Published: July 2020

AbstractTehran's color plan was carried out during 1990s with the primary purpose of restoring color consistency particularly to the historic center of the city. In fact, it attempted to bring unity and avoid color pollution to the cityscape. However, it seems to have been neglectful of many other factors, including orientation, legibility, and the mental image of the city. Further analysis shows that it fails to address figure‐ground perception, as a sign of hierarchy and order, on the urban scale. Hence, this article aims to recover figure‐ground perception with respect to Brandi's theory of restoration as well as the constituent elements of the image of the city. The study makes a contribution to the field of urban design/planning, as it offers important insights into a critical aspect of city color plan and cityscape.
A Novel In Vitro Mouse Model to Study Mycobacterium tuberculosis Dissemination Across Brain Vessels: A Combination Granuloma and Blood‐Brain Barrier Mouse Model
Authors: Walter Fruzsina R. , Gilpin Trey E. , Herbath Melinda , Deli Maria A. , Sandor Matyas , Fabry Zsuzsanna 
Published: July 2020

AbstractIn vitro culture models of the blood‐brain barrier (BBB) provide a useful platform to test the mechanisms of cellular infiltration and pathogen dissemination into the central nervous system (CNS). We present an in vitro mouse model of the BBB to test Mycobacterium tuberculosis (Mtb) dissemination across brain endothelial cells. One‐third of the global population is infected with Mtb, and in 1%‐2% of cases bacteria invade the CNS through a largely unknown process. The “Trojan horse” theory supports the role of a cellular carrier that engulfs bacteria and carries them to the brain without being recognized. We present for the first time a protocol for an in vitro BBB‐granuloma model that supports the Trojan horse mechanism of Mtb dissemination into the CNS. Handling of bacterial cultures, in vivo and in vitro infections, isolation of primary astroglial and endothelial cells, and assembly of the in vitro BBB model is presented. These techniques can be used to analyze the interaction of adaptive and innate immune system cells with brain endothelial cells, cellular transmigration, BBB morphological and functional changes, and methods of bacterial dissemination. © 2020 Wiley Periodicals LLC.Basic Protocol 1: Isolation of primary mouse brain astrocytes and endothelial cellsBasic Protocol 2: Isolation of primary mouse bone marrow–derived dendritic cellsSupport Protocol 1: Validation of dendritic cell purity by flow cytometryBasic Protocol 3: Isolation of primary mouse peripheral blood mononuclear cellsSupport Protocol 2: Isolation of primary mouse spleen cellsSupport Protocol 3: Purification and validation of CD4+ T cells from PBMCs and spleen cellsBasic Protocol 4: Isolation of liver granuloma supernatant and determination of organ loadSupport Protocol 4: In vivo and in vitro infection with mycobacteriaBasic Protocol 5: Assembly of the BBB co‐culture modelBasic Protocol 6: Assembly of the combined in vitro granuloma and BBB model
Using big data to evaluate corporate social responsibility and sustainable development practices
Authors: Barbeito‐Caamaño Adriana , Chalmeta Ricardo 
Published: July 2020

AbstractThis paper shows an alternative method to evaluate sustainable development and corporate social responsibility (CSR) practices based on the opinions of companies' stakeholders expressed on Twitter. An application of the method is performed with the Inditex textile group. This paper shows two important findings: (a) knowledge about companies' CSR practices and stakeholders opinions can be obtained using big data to analyse CSR information about the company on online social networks; and (b) there are important differences between the contents of the sustainability report of a company and the CSR opinions of its stakeholders on the internet. These findings have benefits for the company's stakeholders, who will be able to know the CSR practices of a company in a more objective way, and for the company, which will be able to improve its CSR performance and communication strategy, as well as the stakeholder engagement.
Telehealth transition in a comprehensive care unit for eating disorders: Challenges and long‐term benefits
Authors: Datta Nandini , Derenne Jennifer , Sanders Mary , Lock James D. 
Published: July 2020

AbstractThe 2019 novel coronavirus disease (COVID‐19) pandemic has forced many eating disorder medical stabilization units to consider adjustments that uphold both the quality of care delivered to patients while also observing social distancing public health directives for patients and staff. To date, inpatient facilities for eating disorders (both medical stabilization units and higher level of care facilities) have not needed to consider how to translate services to electronic platforms, given that most of these programs have in‐person staff. We outline our transition to telehealth broadly, emphasizing some unexpected benefits of using telehealth services that we plan on integrating into our work‐flow post COVID‐19. These may be useful for other higher level of care eating disorder programs, including medical stabilization units, residential, partial hospitalization, and intensive outpatient programs. We also highlight aspects of transition that have been more challenging for this particular patient population, warranting the need for in‐person services.
Detailed and atypical HLA‐E peptide binding motifs revealed by a novel peptide exchange binding assay
Authors: Walters Lucy C. , McMichael Andrew J. , Gillespie Geraldine M. 
Published: July 2020

AbstractDiverse SIV and HIV epitopes that bind the rhesus homolog of HLA‐E, Mamu‐E, have recently been identified in SIVvaccine studies using a recombinant Rhesus cytomegalovirus (RhCMV 68‐1) vector, where unprecedented protection against SIV challenge was achieved. Additionally, several Mycobacterial peptides identified both algorithmically and following elution from infected cells, are presented to CD8+ T cells by HLA‐E in humans. Yet, a comparative and comprehensive analysis of relative HLA‐E peptide binding strength via a reliable, high throughput in vitro assay is currently lacking. To address this, we developed and optimized a novel, highly sensitive peptide exchange ELISA‐based assay that relatively quantitates peptide binding to HLA‐E. Using this approach, we screened multiple peptides, including peptide panels derived from HIV, SIV, and Mtb predicted to bind HLA‐E. Our results indicate that although HLA‐E preferentially accommodates canonical MHC class I leader peptides, many non‐canonical, sequence diverse, pathogen‐derived peptides also bind HLA‐E, albeit generally with lower relative binding strength. Additionally, our screens demonstrate that the majority of peptides tested, including some key Mtb and SIV epitopes that have been shown to elicit strong Mamu‐E‐restricted T cell responses, either bind HLA‐E extremely weakly or give signals that are indistinguishable from the negative, peptide‐free controls.
Extension of the two‐component pressure approach for modeling mixed free‐surface‐pressurized flows with the two‐dimensional shallow water equations
Authors: Cea Luis , López‐Núñez Alejandro 
Published: July 2020

AbstractNumerical models based on the two‐dimensional shallow water equations (2D‐SWE) are routinely used in flood risk management and inundation studies. However, most of these models do not adequately account for vertically confined flow conditions that can appear during inundations, due to the presence of hydraulic structures such as bridges, culverts, or underground river reaches. In this article we propose a new mathematical modification of the standard 2D‐SWE, inspired by the two‐component pressure approach for 1D flows, to address the issue of transient vertically confined flows including transitions between free surface and pressurized conditions. A finite volume discretization to solve the proposed system of equations is proposed and analyzed. Various test cases are used to show the numerical stability and accuracy of the discretization, and to validate the proposed formulation. Results show that the proposed method is numerically stable, accurate, mass conservative, and preserves the C‐property. It can also handle subcritical, supercritical, and transcritical flows under free surface or vertically confined conditions.