bluuebunny/crossref_metadata_2025_split huggingface dataset:
Infantile Onset Encephalomyopathy, Heart Block, and Sensorineural Hearing Loss: RMND1-Associated Mitochondrial Disease
Authors: Nagappa Madhu , Vandana V.P. , Chiplunkar Shwetha , Govindaraj Periyasamy , Ponmalar J.N. Jessiena , Gayathri Narayanappa , Sinha Sanjib , Taly Arun B. , Sankaran Bindu Parayil 
Published: May 2020

AbstractMutations in RMND1 (required for mitotic division-1) has been associated with infantile onset mitochondrial disease and combined oxidation phosphorylation deficiency. This report describes a girl child of Indian origin with RMND1-associated mitochondrial disease. This 13-month-old girl, born to consanguineous parents presented with gradual loss of acquired milestones and recurrent vomiting from 5 months of age. She experienced failure to thrive, profound hypotonia, areflexia, and sensorineural deafness. Evaluation showed elevated serum lactate and complete heart block. Audiological evaluation done at 6 and 13 months of age revealed bilateral A type tympanogram, bilateral absent stapedial reflexes, absent otoacoustic emissions (OAE), and absent brainstem auditory evoked responses suggestive of bilateral profound sensorineural hearing loss. Muscle biopsy revealed evidence of ragged red fibers, ragged blue fibers, and Cytochrome coxidase (COX) deficient fibers on histochemistry and multiple complex deficiency on spectrophotometry. Exome sequencing revealed homozygous stop-loss variation, c.1349G > C, in exon 12 of RMDN1 resulting in substitution of amino acid serine for stop codon at position 450 and subsequent elongation of the protein by 31 amino acids (p.Ter450SerextTer31) which was verified by Sanger's sequencing. This report further strengthens the phenotype genotype correlations in RMND1-associated mitochondrial disease, especially the occurrence of the reported variation in South Asian patients. In addition, familiarity with the phenotype might help the physician to do targeted metabolic testing and facilitate appropriate early interventions.
Y‐RNA subtype ratios in plasma extracellular vesicles are cell type‐ specific and are candidate biomarkers for inflammatory diseases
Authors: Driedonks Tom A.P. , Mol Sanne , de Bruin Sanne , Peters Anna‐Linda , Zhang Xiaogang , Lindenbergh Marthe F.S. , Beuger Boukje M. , van Stalborch Anne‐Marieke D. , Spaan Thom , de Jong Esther C. , van der Vries Erhard , Margadant Coert , van Bruggen Robin , Vlaar Alexander P.J. , Groot Kormelink Tom , Nolte‐‘T Hoen Esther N.M. 
Published: May 2020

ABSTRACTMajor efforts are made to characterize the presence of microRNA (miRNA) and messenger RNA in blood plasma to discover novel disease‐associated biomarkers. MiRNAs in plasma are associated to several types of macromolecular structures, including extracellular vesicles (EV), lipoprotein particles (LPP) and ribonucleoprotein particles (RNP). RNAs in these complexes are recovered at variable efficiency by commonly used EV‐ and RNA isolation methods, which causes biases and inconsistencies in miRNA quantitation. Besides miRNAs, various other non‐coding RNA species are contained in EV and present within the pool of plasma extracellular RNA. Members of the Y‐RNA family have been detected in EV from various cell types and are among the most abundant non‐coding RNA types in plasma. We previously showed that shuttling of full‐length Y‐RNA into EV released by immune cells is modulated by microbial stimulation. This indicated that Y‐RNAs could contribute to the functional properties of EV in immune cell communication and that EV‐associated Y‐RNAs could have biomarker potential in immune‐related diseases. Here, we investigated which macromolecular structures in plasma contain full length Y‐RNA and whether the levels of three Y‐RNA subtypes in plasma (Y1, Y3 and Y4) change during systemic inflammation. Our data indicate that the majority of full length Y‐RNA in plasma is stably associated to EV. Moreover, we discovered that EV from different blood‐related cell types contain cell‐type‐specific Y‐RNA subtype ratios. Using a human model for systemic inflammation, we show that the neutrophil‐specific Y4/Y3 ratios and PBMC‐specific Y3/Y1 ratios were significantly altered after induction of inflammation. The plasma Y‐RNA ratios strongly correlated with the number and type of immune cells during systemic inflammation. Cell‐type‐specific “Y‐RNA signatures” in plasma EV can be determined without prior enrichment for EV, and may be further explored as simple and fast test for diagnosis of inflammatory responses or other immune‐related diseases.
Multi-wavelength focusing based on nanoholes
Authors: Han Yuansheng , Lu Xiaoqing , Lv Haoran , Mou Zhen , Zhou Changda , Wang Shuyun , Teng Shuyun 
Published: May 2020

Abstract
A kind of controllable multi-wavelength focusing metalenses is proposed. The proposed metalenses consist of identical nanometer holes etched in silver film and the beam focusing at three primary wavelengths is controlled without additional phase compensation. Transmission field of metalens satisfies the in-phase interference condition at different wavelength and the fixed focal effect for three primary wavelengths and the color separation along the transverse or longitudinal direction are realized respectively. Simulation and experimental results verify the controllable focusing performance of the proposed metalenses. Simple design, convenient manufacture and effective color controllable focusing of these proposed metalenses are helpful for the applications of metalenses in lightweight chromatically-corrected displaying and imaging systems.
Sputtered porous Pt for wafer-scale manufacture of low-impedance flexible microelectrodes
Authors: Fan Bo , Rodriguez Alexander V , Vercosa Daniel G , Kemere Caleb , Robinson Jacob T 
Published: May 2020

Abstract

Objective. Recording electrical activity from individual cells in vivo is a key technology for basic neuroscience and has growing clinical applications. To maximize the number of independent recording channels as well as the longevity, and quality of these recordings, researchers often turn to small and flexible electrodes that minimize tissue damage and can isolate signals from individual neurons. One challenge when creating these small electrodes, however, is to maintain a low interfacial impedance by applying a surface coating that is stable in tissue and does not significantly complicate the fabrication process. Approach. Here we use a high-pressure Pt sputtering process to create low-impedance electrodes at the wafer scale using standard microfabrication equipment. Main results. We find that direct-sputtered Pt provides a reliable and well-controlled porous coating that reduces the electrode impedance by 5–9 fold compared to flat Pt and is compatible with the microfabrication technologies used to create flexible electrodes. These porous Pt electrodes show reduced thermal noise that matches theoretical predictions. In addition, we show that these electrodes can be implanted into rat cortex, record single unit activity, and be removed all without disrupting the integrity of the coating. We also demonstrate that the shape of the electrode (in addition to the surface area) has a significant effect on the electrode impedance when the feature sizes are on the order of tens of microns. Significance. Overall, porous Pt represents a promising method for manufacturing low-impedance electrodes that can be seamlessly integrated into existing processes for producing flexible neural probes.
Linking Statistics With Testing Policy to Manage COVID-19 in the Community
Authors: Hilborne Lee H , Wagner Zachary , Cabreros Irineo , Brook Robert H 
Published: May 2020

Abstract

Objectives
To determine the public health surveillance severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) testing volume needed, both for acute infection and seroprevalence.

Methods
Required testing volumes were developed using standard statistical methods based on test analytical performance, disease prevalence, desired precision, and population size.

Results
Widespread testing for individual health management cannot address surveillance needs. The number of people who must be sampled for public health surveillance and decision making, although not trivial, is potentially in the thousands for any given population or subpopulation, not millions.

Conclusions
While the contributions of diagnostic testing for SARS-CoV-2 have received considerable attention, concerns abound regarding the availability of sufficient testing capacity to meet demand. Different testing goals require different numbers of tests and different testing strategies; testing strategies for national or local disease surveillance, including monitoring of prevalence, receive less attention. Our clinical laboratory and diagnostic infrastructure are capable of incorporating required volumes for many local, regional, and national public health surveillance studies into their current and projected testing capacity. However, testing for surveillance requires careful design and randomization to provide meaningful insights.
Walking and talking with volunteers: what does walking offer the study of volunteering, space and place?
Authors: Daly Siobhan , Allen Michele 
Published: May 2020

Abstract
The walking interview is used to explore the lived experiences and meanings individuals attach to place(s). Despite scholarly interest in place and volunteering, attention to the walking interview is lacking. This article presents an exploratory study, which invited five volunteers to participate in a walking interview. Our aim is to discuss the walking interview to expand the range of methodologies employed in research on volunteering, particularly volunteering and place. The walking interview has novel implications for the conceptualization of volunteers and for the meanings individuals identify in their volunteer experience(s). Volunteers can be conceptualized as mobile subjects to explore the implications of physiological movement in place for the volunteer experience. Walking can unearth the significance of emotions and memories to volunteers’ negotiation of the ‘everyday politics’ of volunteering. The mobility of people and objects in sites of volunteering are salient as they reveal embodied aspects of the volunteer experience.
The articles.ELM resource: simplifying access to protein linear motif literature by annotation, text-mining and classification
Authors: Palopoli N , Iserte J A , Chemes L B , Marino-Buslje C , Parisi G , Gibson T J , Davey N E 
Published: May 2020

Abstract
Modern biology produces data at a staggering rate. Yet, much of these biological data is still isolated in the text, figures, tables and supplementary materials of articles. As a result, biological information created at great expense is significantly underutilised. The protein motif biology field does not have sufficient resources to curate the corpus of motif-related literature and, to date, only a fraction of the available articles have been curated. In this study, we develop a set of tools and a web resource, ‘articles.ELM’, to rapidly identify the motif literature articles pertinent to a researcher’s interest. At the core of the resource is a manually curated set of about 8000 motif-related articles. These articles are automatically annotated with a range of relevant biological data allowing in-depth search functionality. Machine-learning article classification is used to group articles based on their similarity to manually curated motif classes in the Eukaryotic Linear Motif resource. Articles can also be manually classified within the resource. The ‘articles.ELM’ resource permits the rapid and accurate discovery of relevant motif articles thereby improving the visibility of motif literature and simplifying the recovery of valuable biological insights sequestered within scientific articles. Consequently, this web resource removes a critical bottleneck in scientific productivity for the motif biology field. Database URL: http://slim.icr.ac.uk/articles/
Evaluation of different PNGase F enzymes in immunoglobulin G and total plasma N-glycans analysis
Authors: Vilaj Marija , Lauc Gordan , Trbojević-Akmačić Irena 
Published: May 2020

AbstractGlycoproteins, proteins that are co- and posttranslationally modified by sugars (glycans), have significant roles in pathophysiology of many different diseases. One of the main steps in sample preparation for free N-glycan analysis is deglycosylation or glycan removal. The aim of this study was to compare different peptide N-glycosidase F (PNGase F) enzymes (Rapid PNGase F and two recombinant versions) for deglycosylation of total human plasma glycoproteins and different amounts of human immunoglobulin G (IgG). Deglycosylation with different PNGase F enzymes resulted in different IgG and plasma N-glycosylation hydrophilic interaction liquid chromatography ultra-performance liquid chromatography profiles. Additionally, one recombinant version of PNGase F is more efficient in deglycosylation of complex N-glycans compared with Rapid PNGase F and recombinant version of PNGase F from a different manufacturer. In terms of chromatographic peak intensities and coefficient of variation %Area values, all tested versions of PNGase F enzymes were very reproducible and on the similar level when used in optimal conditions. However, care should be taken in terms of which enzyme is used with which protocol, particularly when scaling up.
Is Affective Effective? Measuring Affective Learning in Simulations
Authors: Holland Martin , Sliwinski Krzysztof , Thomas Nicholas 
Published: May 2020

AbstractSimulations have become a regular component of teaching toolkits. They provide teachers with a platform to take students’ knowledge and understanding of subject materials beyond the classroom. In doing so, simulations fulfill a critical pedagogical purpose in that they need to construct a learning space; one more efficacious in delivering learning opportunities than traditional modes of instruction. In order for simulations to be effective, students need to be able to place themselves in role. The more closely the students identify with their topic (the greater their affection for the subject), the closer the alignment between the exercise and the intended learning outcomes. This article considers how an affective learning environment can be created with simulations. The lens for this analysis is an international model European Union simulation that has been running in Hong Kong and New Zealand. Our argument is that the more affective the simulated environment, the more realistic it will be perceived to be by the participants. However, contrary to the prevailing literature, our findings suggest that affection does not necessarily have to be positively constructed in order for simulations to be effective pedagogical tools.
Combinations of (lipo)glycopeptides with β-lactams against MRSA: susceptibility insights
Authors: Kebriaei Razieh , Rice Seth A , Singh Nivedita B , Stamper Kyle C , Nguyen Logan , Sheikh Zain , Rybak Michael J 
Published: May 2020

AbstractBackgroundIncreasing application of vancomycin due to the high prevalence of MRSA infections has led to the emergence of vancomycin intermediate-resistant Staphylococcus aureus (VISA) and heterogeneous VISA (hVISA). Consequently, the need for alternative therapies that target MRSA has become evident.ObjectivesTo evaluate the synergy between (lipo)glycopeptides (LGP/GPs) (vancomycin, teicoplanin, telavancin, dalbavancin and oritavancin) and β-lactams (ceftaroline, cefepime, cefazolin and oxacillin) against MRSA, hVISA, VISA and daptomycin non-susceptible (DNS) phenotypes.MethodsTwenty randomly selected clinical MRSA strains (i.e. 5 MRSA, 5 hVISA, 5 VISA and 5 DNS) were assessed versus LGP/GPs alone and LGP/GPs in combination with β-lactams for MICs. Although verification of antibiotic potency against bacterial strains is assessed by the microbroth dilution (MBD) MIC method recommended by the CLSI, some antibiotics need modified assay conditions in order to demonstrate their optimal activity.ResultsAddition of β-lactams reduced MIC values of LGP/GPs against all strains (up to 160-fold reduction). In general, LGPs (dalbavancin, oritavancin and telavancin) were more active (significant differences in MIC values, up to 8-fold) compared with vancomycin and teicoplanin. The majority of these combinations were bactericidal and superior to any single agent.ConclusionsThis report has examined the susceptibility patterns of LGP/GPs and their combination with β-lactams. Of interest, the impact of susceptibility tests (in terms of MIC plates and their surface area) on the synergistic activity in 24 h time–kill experiments was apparent for LGPs. Further clinical research is required to investigate synergy with LGP/GPs and β-lactams against these Staphylococcus strains.
The Approach to Implementation of the Kilwa Decision: Communication 393/ 10–IHRDA and Others v. DRC (2016)
Authors:   Institute for Human Rights and Development in Africa
Published: May 2020

Abstract
States are required to implement decisions adopted by human rights treaty bodies, the African Commission on Human and Peoples’ Rights being one of them. Although the responsibility to implement lies with the state, treaty mechanisms play an important role in ensuring compliance with their decisions. The African Commission does not have an institutionalized mechanism tasked with implementation. It does however use other means such as promotion visits and the consideration of state reports to follow up on implementation of its decisions. This practice note recalls the approaches that the Institute for Human Rights and Development in Africa (IHRDA) and its partners have used and plan to use to follow up on implementation of the Kilwa decision. After a brief background on the case, this note assesses the content of the Kilwa decision, and outlines the road map for implementation. The note concludes with a look at the impact expected from the implementation of the Kilwa decision.
Effects of Certain cis-Regulatory Elements on Stage-Specific vitellogenin Expression in the Bombyx mori (Lepidoptera: Bombycidae)
Authors: Shen Guanwang , Liu Hongling , Lin Ying , Xing Dongxu , Zhang Yujing , Xia Qingyou 
Published: May 2020

Abstract
Bombyx mori vitellogenin (BmVg) is highly upregulated during pupation, and the 20-hydroxyecdysone and amino acids may regulate stage-specific BmVg expression. However, previous studies showed that other factors may also affect stage-specific BmVg expression. Here, we characterized effective BmVg transcription factors by identifying the corresponding cis-regulatory elements (CREs). We prepared transgenic B. mori, in which DsRed was driven by various lengths of BmVg promoter. qRT-PCR analysis showed that DsRed expression driven by a 1.0-kb BmVg promoter (VgP1.0K) was consistent with endogenous BmVg. VgP1.0K specificity was closer to the endogenous BmVg promoter than that of VgP0.8K. These results suggest that CREs affecting stage-specific BmVg expression were localized to the 1.0-kb BmVg promoter. We investigated the effects of certain CREs that could influence the stage specificity of BmVg promoter on BmVg expression in transgenic B. mori. The relative DsRed expression was significantly reduced in transgenic female B. mori and the peak in DsRed expression was delayed after E-box CRE mutation. These results demonstrate that the E-box element enhanced BmVg expression and also affected stage-specific BmVg expression. Moreover, the relative DsRed expression was significantly increased in transgenic female of B. mori after 3×BD CRE mutation in BmVg promoter. However, the stage specificity of the mutated promoter was consistent with that of the endogenous BmVg promoter. The 3×BD element downregulated BmVg but had no effect on stage-specific BmVg expression. The present study promoted the process of elucidating the regulatory network for stage-specific BmVg expression and furnished a theoretical basis for the application of BmVg promoter.
Machine learning classification of new asteroid families members
Authors: Carruba V , Aljbaae S , Domingos R C , Lucchini A , Furlaneto P 
Published: May 2020

ABSTRACT
Asteroid families are groups of asteroids that are the product of collisions or of the rotational fission of a parent object. These groups are mainly identified in proper elements or frequencies domains. Because of robotic telescope surveys, the number of known asteroids has increased from ${\simeq}10\, 000$ in the early 1990s to more than $750\, 000$ nowadays. Traditional approaches for identifying new members of asteroid families, like the hierarchical clustering method (HCM), may struggle to keep up with the growing rate of new discoveries. Here we used machine learning classification algorithms to identify new family members based on the orbital distribution in proper (a, e, sin (i)) of previously known family constituents. We compared the outcome of nine classification algorithms from stand-alone and ensemble approaches. The extremely randomized trees (ExtraTree) method had the highest precision, enabling to retrieve up to 97 per cent of family members identified with standard HCM.
Modelling the large-scale mass density field of the universe as a function of cosmology and baryonic physics
Authors: Aricò Giovanni , Angulo Raul E , Hernández-Monteagudo Carlos , Contreras Sergio , Zennaro Matteo , Pellejero-Ibañez Marcos , Rosas-Guevara Yetli 
Published: May 2020

ABSTRACT
We present and test a framework that models the 3D distribution of mass in the universe as a function of cosmological and astrophysical parameters. Our approach combines two different techniques: a rescaling algorithm that modifies the cosmology of gravity-only N-body simulations, and a ‘baryonification’ algorithm that mimics the effects of astrophysical processes induced by baryons, such as star formation and active galactic nuclei (AGN) feedback. We show how this approach can accurately reproduce the effects of baryons on the matter power spectrum of various state-of-the-art hydrodynamical simulations (EAGLE, Illustris, Illustris-TNG, Horizon-AGN, and OWLS, Cosmo-OWLS and BAHAMAS), to better than 1 per cent from very large down to small, highly non-linear, scales ($k\sim 5 \, h\, {\rm Mpc}^{-1}$), and from z = 0 up to z ∼ 2. We highlight that, because of the heavy optimization of our algorithms, we can obtain these predictions for arbitrary baryonic models and cosmology (including massive neutrinos and dynamical dark energy models) with an almost negligible CPU cost. With these tools in hand, we explore the degeneracies between cosmological and astrophysical parameters in the non-linear mass power spectrum. Our findings suggest that after marginalizing over baryonic physics, cosmological constraints inferred from weak gravitational lensing should be moderately degraded.
What has quenched the massive spiral galaxies?
Authors: Luo Yu , Li Zongnan , Kang Xi , Li Zhiyuan , Wang Peng 
Published: May 2020

ABSTRACT
Quenched massive spiral galaxies have attracted great attention recently, as more data are available to constrain their environment and cold gas content. However, the quenching mechanism is still uncertain, as it depends on the mass range and baryon budget of the galaxy. In this letter, we report the identification of a rare population of very massive, quenched spiral galaxies with stellar mass ≳1011 M⊙ and halo mass ≳1013 M⊙ from the Sloan Digital Sky Survey at redshift z ∼ 0.1. Our CO observations using the IRAM (Institute for Radio Astronomy in the Millimeter Range) 30-m telescope show that these galaxies contain only a small amount of molecular gas. Similar galaxies are also seen in the state-of-the-art semi-analytical models and hydrodynamical simulations. It is found from these theoretical models that these quenched spiral galaxies harbour massive black holes, suggesting that feedback from the central black holes has quenched these spiral galaxies. This quenching mechanism seems to challenge the popular scenario of the co-evolution between massive black holes and massive bulges.