bluuebunny/crossref_metadata_2025_split huggingface dataset:
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
Authors: Vona Barbara , Mazaheri Neda , Lin Sheng-Jia , Dunbar Lucy A. , Maroofian Reza , Azaiez Hela , Booth Kevin T. , Vitry Sandrine , Rad Aboulfazl , Rüschendorf Franz , Varshney Pratishtha , Fowler Ben , Beetz Christian , Alagramam Kumar N. , Murphy David , Shariati Gholamreza , Sedaghat Alireza , Houlden Henry , Petree Cassidy , VijayKumar Shruthi , Smith Richard J. H. , Haaf Thomas , El-Amraoui Aziz , Bowl Michael R. , Varshney Gaurav K. , Galehdari Hamid 
Published: January 2021

AbstractDeafness, the most frequent sensory deficit in humans, is extremely heterogeneous with hundreds of genes involved. Clinical and genetic analyses of an extended consanguineous family with pre-lingual, moderate-to-profound autosomal recessive sensorineural hearing loss, allowed us to identify CLRN2, encoding a tetraspan protein, as a new deafness gene. Homozygosity mapping followed by exome sequencing identified a 14.96 Mb locus on chromosome 4p15.32p15.1 containing a likely pathogenic missense variant in CLRN2 (c.494C > A, NM_001079827.2) segregating with the disease. Using in vitro RNA splicing analysis, we show that the CLRN2 c.494C > A variant leads to two events: (1) the substitution of a highly conserved threonine (uncharged amino acid) to lysine (charged amino acid) at position 165, p.(Thr165Lys), and (2) aberrant splicing, with the retention of intron 2 resulting in a stop codon after 26 additional amino acids, p.(Gly146Lysfs*26). Expression studies and phenotyping of newly produced zebrafish and mouse models deficient for clarin 2 further confirm that clarin 2, expressed in the inner ear hair cells, is essential for normal organization and maintenance of the auditory hair bundles, and for hearing function. Together, our findings identify CLRN2 as a new deafness gene, which will impact future diagnosis and treatment for deaf patients.
Immune regulation in renal inflammation
Authors: Neumann Katrin , Tiegs Gisa 
Published: January 2021

AbstractRenal inflammation, induced by autoantigen recognition or toxic drugs, leads to renal tissue injury and decline in kidney function. Recent studies have demonstrated the crucial role for regulatory T cells in suppressing pathogenic adaptive but also innate immune responses in the inflamed kidney. However, there is also evidence for other immune cell populations with immunosuppressive function in renal inflammation. This review summarizes mechanisms of immune cell regulation in immune-mediated glomerulonephritis and acute and chronic nephrotoxicity.
Olfaction across the water–air interface in anuran amphibians
Authors: Weiss Lukas , Manzini Ivan , Hassenklöver Thomas 
Published: January 2021

AbstractExtant anuran amphibians originate from an evolutionary intersection eventually leading to fully terrestrial tetrapods. In many ways, they have to deal with exposure to both terrestrial and aquatic environments: (i) phylogenetically, as derivatives of the first tetrapod group that conquered the terrestrial environment in evolution; (ii) ontogenetically, with a development that includes aquatic and terrestrial stages connected via metamorphic remodeling; and (iii) individually, with common changes in habitat during the life cycle. Our knowledge about the structural organization and function of the amphibian olfactory system and its relevance still lags behind findings on mammals. It is a formidable challenge to reveal underlying general principles of circuity-related, cellular, and molecular properties that are beneficial for an optimized sense of smell in water and air. Recent findings in structural organization coupled with behavioral observations could help to understand the importance of the sense of smell in this evolutionarily important animal group. We describe the structure of the peripheral olfactory organ, the olfactory bulb, and higher olfactory centers on a tissue, cellular, and molecular levels. Differences and similarities between the olfactory systems of anurans and other vertebrates are reviewed. Special emphasis lies on adaptations that are connected to the distinct demands of olfaction in water and air environment. These particular adaptations are discussed in light of evolutionary trends, ontogenetic development, and ecological demands.
Public transit infrastructure and heat perceptions in hot and dry climates
Authors: Dzyuban Yuliya , Hondula David M. , Coseo Paul J. , Redman Charles L. 
Published: January 2021

AbstractMany cities aim to progress toward their sustainability and public health goals by increasing use of their public transit systems. However, without adequate protective infrastructure that provides thermally comfortable conditions for public transit riders, it can be challenging to reach these goals in hot climates. We took micrometeorological measurements and surveyed riders about their perceptions of heat and heat-coping behaviors at bus stops with a variety of design attributes in Phoenix, AZ, USA, during the summer of 2018. We identified the design attributes and coping behaviors that made riders feel cooler. We observed that current infrastructure standards and material choices for bus stops in Phoenix are insufficient to provide thermal comfort, and can even expose riders to health risks. Almost half of the study participants felt hot or very hot at the time they were surveyed, and more than half reported feeling thermally uncomfortable. On average, shade reduced the physiological equivalent temperature (PET) by 19 °C. Moreover, we found significant diurnal differences in PET reductions from the shade provided by various design attributes. For instance, all design attributes were effective in reducing PET in the morning; however, a vegetated awning did not provide statistically significant shade reductions in the afternoon. Temperatures of sun-exposed surfaces of man-made materials exceeded skin burn thresholds in the afternoon, but shade was effective in bringing the same surfaces to safe levels. Aesthetically pleasing stops were rated as cooler than stops rated as less beautiful. We conclude that cities striving to increase public transit use should prioritize thermal comfort when designing public transit stops in hot climates.
COVID-19: Lockdowns, Fatality Rates and GDP Growth
Authors: König Michael , Winkler Adalbert 
Published: January 2021

AbstractThe COVID-19 pandemic has triggered an unprecedented economic crisis. This article analyses the impact of mandatory social distancing imposed by lockdown policies and voluntary social distancing triggered by COVID-19 fatality rates on GDP growth in the first three quarters of 2020 for a sample of 42 countries. OLS and IV results indicate an important role for the fatality rate, while panel regressions show that lockdown stringency is the more important driver of growth. When including lagged variables, more restrictive measures lead to lower GDP growth in the same quarter but are associated with a positive, catching-up effect in the following quarter.
Women bear a burden: gender differences in health of older migrants from Turkey
Authors: Krobisch Verena , Gebert Pimrapat , Gül Kübra , Schenk Liane 
Published: January 2021

AbstractStudies show that older migrants have poorer health than native populations in Western Europe. To date, little systematic research has explored the differences between men and women within older populations with migration backgrounds. This article examines gender-specific aspects and mediating mechanisms of self-reported health among older migrants from Turkey. Using a mixed method approach, data and results from a quantitative survey and a qualitative study conducted in Berlin, Germany, are analysed and integrated at the interpretive level. Standardised face-to-face interviews were carried out with the help of a network approach with 194 older migrants from Turkey (93 women, 101 men, mean age: 68). Potential mediators showing significant gender differences are included in a parallel multiple mediation analysis. The documentary method is used to analyse 11 semi-structured narrative interviews with first-generation labour migrants from Turkey. Women reported significantly worse subjective health than men (c = 0.443, bCI [0.165–0.736]), conveyed through greater functional limitations (ab = 0.183, bCI [0.056–0.321]) and emotional loneliness (ab = 0.057, bCI [0.008–0.128]). Respondents to the qualitative study perceived that women age earlier and have poorer health due to the burden of performing a greater variety of social roles. Higher levels of emotional loneliness among women could be caused by their experiences of negatively assessed partnerships. Our results show that as a group, older female migrants have an elevated health vulnerability. A broader scientific foundation regarding gender differences in the health of older migrants and their causes is needed to promote gender-sensitive prevention and care for this group.
The effect of ageing on bonding performance of plasma treated beech wood with urea-formaldehyde adhesive
Authors: Žigon Jure , Saražin Jaša , Šernek Milan , Kovač Janez , Dahle Sebastian 
Published: January 2021

AbstractIn the process of wood bonding, the usage of aged and inactivated wooden elements can cause a reduction in mechanical properties of products containing wood-adhesive joints. Treating wood with an atmospheric air plasma represents a sophisticated technique for surface activation. With this regard, to enhance the bondability of normal beech wood (Fagus sylvaticaL.) with urea-formaldehyde (UF) adhesive, a dielectric barrier discharge plasma in floating electrode configuration was implemented. In this study, fresh and aged wood specimen both, untreated and plasma treated, were investigated. X-ray photoelectron spectroscopy revealed promotion of carbon-rich species with ageing, but generation of a new functional oxygen-containing functional groups after plasma treatment. Microscopic observations with scanning electron microscope showed no obvious changes in the wood structure after plasma treatment. Surface oxidation consequently improved the wettability of the wood surface with water and UF adhesive. However, this enhanced wettability slightly diminished over time. As shown with dynamic mechanical analysis, the rheological properties of the UF adhesive in wood-adhesive joints were not affected by aging nor by plasma treatment. The positive influence of plasma treatment and negative impact of substrate ageing to the shear strengths of wood lap-joints were determined using an automated bonding evaluation system. Similarly, the negative effect of wood ageing and the positive effect of plasma pre-treatment were reflected in the bending strengths of the produced laminated veneer lumbers. Results showed that plasma treatment of beech wood improves the bonding performance of both fresh and aged wood.Graphic abstract
Modelling the Effects of Boundary Walls on the Fire Dynamics of Informal Settlement Dwellings
Authors: Beshir M. , Mohamed M. , Welch S. , Rush D. 
Published: January 2021

AbstractCharacterising the risk of the fire spread in informal settlements relies on the ability to understand compartment fires with boundary conditions that are significantly different to normal residential compartments. Informal settlement dwellings frequently have thermally thin and leaky boundaries. Due to the unique design of these compartments, detailed experimental studies were conducted to understand their fire dynamics. This paper presents the ability of FDS to model these under-ventilated steel sheeted fire tests. Four compartment fire tests were modelled with different wall boundary conditions, namely sealed walls (no leakage), non-sealed walls (leaky), leaky walls with cardboard lining, and highly insulated walls; with wood cribs as fuel and ISO-9705 room dimensions. FDS managed to capture the main fire dynamics and trends both qualitatively and quantitatively. However, using a cell size of 6 cm, the ability of FDS to accurately model the combustion at locations with high turbulent flows (using the infinitely fast chemistry mixing controlled combustion model), and the effect of leakage, was relatively poor and both factors should be further studied with finer LES filter width. Using the validated FDS models, new flashover criteria for thermally thin compartments were defined as a combination of critical hot gas layer and wall temperatures. Additionally, a parametric study was conducted to propose an empirical correlation to estimate the onset Heat Release Rate required for flashover, as current knowledge fails to account properly for large scale compartments with thermally thin boundaries. The empirical correlation is demonstrated to have an accuracy of ≈ ± 10% compared with the FDS models.
Understanding biosecurity: knowledge, attitudes and practices of seaweed farmers in the Philippines
Authors: Mateo Jonalyn P. , Campbell Iona , Cottier-Cook Elizabeth J. , Luhan Maria Rovilla J. , Ferriols Victor Marco Emmanuel N. , Hurtado Anicia Q. 
Published: January 2021

AbstractFarmers are one of the most important components of any plant-based cultivation industry. The Philippines is one of the world’s major producers of red carrageenophyte algae and has tens of thousands of farmers involved in this industry. The production of algae such as Kappaphycus and Eucheuma increased significantly from the early 1970s, when the industry was established, before declining from the mid-2000s, due to a number of reasons, including disease and epiphyte outbreaks. The introduction of biosecurity measures has been one approach used to tackle this decline. Biosecurity-related knowledge, attitude and practices (KAP) of the seaweed farmers were assessed in the four highest seaweed producing regions in the Philippines: (1) Tawi-Tawi, (2) Palawan, (3) Zamboanga and (4) Bohol. Analyses showed that seaweed farmers from Tawi-Tawi had relatively higher KAP mean scores than the other three sites. Palawan and Bohol farmers, however, scored lower on their knowledge, higher on their attitude and highest on their practices compared with the other areas. Farmers from Zamboanga scored the lowest in both their attitude and practice mean scores, although their knowledge score was one of the highest. This is the first KAP assessment applied to the seaweed farming industry globally and the results, in which the farmers’ biosecurity-related knowledge and practices, which scored “Fair” (50–75%) across all the regions, and their attitudes, which scored predominantly “Good” (> 75%) suggest that there is potential to raise the score for biosecurity practices. This assessment highlights how biosecurity challenges are currently addressed by seaweed farmers in the Philippines and suggests how the KAP survey could be used as a tool by policymakers and scientists to address gaps in biosecurity management practices.
Aggresomes predict poor outcomes and implicate proteostasis in the pathogenesis of pediatric choroid plexus tumors
Authors: Amer Nada , Taha Hala , Hesham Dina , Al-Shehaby Nouran , Mosaab Amal , Soudy Mohamed , Osama Aya , Mahmoud Noura , Elayadi Moatasem , Youssef Ayda , Elbeltagy Mohamed , Zaghloul Mohamed Saad , Magdeldin Sameh , Sayed Ahmed A. , El-Naggar Shahenda 
Published: January 2021

Abstract
Purpose
Protein misfolding and aggregation result in proteotoxic stress and underlie the pathogenesis of many diseases. To overcome proteotoxicity, cells compartmentalize misfolded and aggregated proteins in different inclusion bodies. The aggresome is a paranuclear inclusion body that functions as a storage compartment for misfolded proteins. Choroid plexus tumors (CPTs) are rare neoplasms comprised of three pathological subgroups. The underlying mechanisms of their pathogenesis remain unclear. This study aims to elucidate the prognostic role and the biological effects of aggresomes in pediatric CPTs.

Methods
We examined the presence of aggresomes in 42 patient-derived tumor tissues by immunohistochemistry and we identified their impact on patients’ outcomes. We then investigated the proteogenomics signature associated with aggresomes using whole-genome DNA methylation and proteomic analysis to define their role in the pathogenesis of pediatric CPTs.

Results
Aggresomes were detected in 64.2% of samples and were distributed among different pathological and molecular subgroups. The presence of aggresomes with different percentages was correlated with patients’ outcomes. The ≥ 25% cutoff had the most significant impact on overall and event-free survival (p-value < 0.001) compared to the pathological and the molecular stratifications.

Conclusions
These results support the role of aggresome as a novel prognostic molecular marker for pediatric CPTs that was comparable to the molecular classification in segregating samples into two distinct subgroups, and to the pathological stratification in the prediction of patients’ outcomes. Moreover, the proteogenomic signature of CPTs displayed altered protein homeostasis, manifested by enrichment in processes related to protein quality control.
Feasibility of estimating travel demand using geolocations of social media data
Authors: Liao Yuan , Yeh Sonia , Gil Jorge 
Published: January 2021

AbstractTravel demand estimation, as represented by an origin–destination (OD) matrix, is essential for urban planning and management. Compared to data typically used in travel demand estimation, the key strengths of social media data are that they are low-cost, abundant, available in real-time, and free of geographical partition. However, the data also have significant limitations: population and behavioural biases, and lack of important information such as trip purpose and social demographics. This study systematically explores the feasibility of using geolocations of Twitter data for travel demand estimation by examining the effects of data sparsity, spatial scale, sampling methods, and sample size. We show that Twitter data are suitable for modelling the overall travel demand for an average weekday but not for commuting travel demand, due to the low reliability of identifying home and workplace. Collecting more detailed, long-term individual data from user timelines for a small number of individuals produces more accurate results than short-term data for a much larger population within a region. We developed a novel approach using geotagged tweets as attraction generators as opposed to the commonly adopted trip generators. This significantly increases usable data, resulting in better representation of travel demand. This study demonstrates that Twitter can be a viable option for estimating travel demand, though careful consideration must be given to sampling method, estimation model, and sample size.
Bioaccumulation of Heavy Metals in Pelagic and Benthic Fishes of Ogbese River, Ondo State, South-Western Nigeria
Authors: Olayinka-Olagunju Josephine Omowumi , Dosumu Adekunle A. , Olatunji-Ojo Adetola Mary 
Published: January 2021

AbstractThe bioaccumulation factors (BAFs) of heavy metal (Fe, Zn, Pb, Cd, Cr, Cu, Mn, and As) concentrations in benthic and pelagic fish organs (muscles, gills, liver, and hearts), and concentrations of heavy metals in water and sediments of Ogbese River, Ondo State, Nigeria were investigated. From the results, the concentrations of heavy metals in the water were within the permissible limits stipulated by the World Health Organization (WHO). However, in the sediments, Cd, Cr, Fe, and Mn concentrations were higher than the limits, while Zn, As, Pb, and Cu were within limits. Heavy metals concentrations in the fish organs showed that all fish species were within the permissible limits implying no contamination. More so, the BAFs in all fish organs revealed no probability of accumulation while the geoaccumulation index and contamination factor showed no contamination to moderate contamination. The potential ecological risk index also showed moderate risk factor indicating that the water and sediments were not extremely polluted for higher organisms but may be toxic for lower ones. The study concludes that constant monitoring and study should be conducted by researchers and the Ministry of Water Resource and that the community should be aware of the danger human pollution can cause to the river.
Harmonized assessment of nutrient pollution from urban systems including losses from sewer exfiltration: a case study in Germany
Authors: Nguyen Hong Hanh , Venohr Markus 
Published: January 2021

AbstractA growing literature indicates that untreated wastewater from leaky sewers stands among major sources of pollution to water resources of urban systems. Despite that, the quantification and allocation of sewer exfiltration are often restricted to major pipe areas where inspection data are available. In large-scale urban models, the emission from sewer exfiltration is either neglected (particularly from private sewers) or represented by simplified fixed values, and as such its contribution to the overall urban emission remains questionable. This study proposes an extended model framework which incorporates sewer exfiltration pathway in the catchment model for a better justified pollution control and management of urban systems at a nationwide scale. Nutrient emission from urban areas is quantified by means of the Modelling of Nutrient Emissions in River Systems (MONERIS) model. Exfiltration is estimated for public and private sewers of different age groups in Germany using the verified methods at local to city scales, upscaling techniques, and expert knowledge. Results of this study suggest that the average exfiltration rate is likely to be less than 0.01 L/s per km, corresponding to approximately 1 mm/m/year of wastewater discharge to groundwater. Considering the source and age factors, the highest rate of exfiltration is defined in regions with significant proportions of public sewers older than 40 years. In regions where public sewers are mostly built after 1981, the leakage from private sewers can be up two times higher than such from public sewers. Overall, sewer exfiltration accounts for 9.8% and 17.2% of nitrate and phosphate loads from urban systems emitted to the environment, which increases to 11.2% and 19.5% in the case of no remediation scenario of projected defective sewer increases due to ageing effects. Our results provide a first harmonized quantification of potential leakage losses in urban wastewater systems at the nationwide scale and reveal the importance of rehabilitation planning of ageing sewer pipes in public and private sewer systems. The proposed model framework, which incorporates important factors for urban sewer managers, will allow further targeting the important data need for validating the approach at the regional and local scales in order to support better strategies for the long-term nutrient pollution control of large urban wastewater systems.
Towards new concepts for a biological neuroscience of consciousness
Authors: Signorelli Camilo Miguel , Meling Daniel 
Published: January 2021

AbstractIn the search for a sound model of consciousness, we aim at introducing new concepts: closure, compositionality, biobranes and autobranes. This is important to overcome reductionism and to bring life back into the neuroscience of consciousness. Using these definitions, we conjecture that consciousness co-arises with the non-trivial composition of biological closure in the form of biobranes and autobranes: conscious processes generate closed activity at various levels and are, in turn, themselves, supported by biobranes and autobranes. This approach leads to a non-reductionist biological and simultaneously phenomenological theory of conscious experience, giving new perspectives for a science of consciousness. Future works will implement experimental definitions and computational simulations to characterize these dynamical biobranes interacting.