bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel variants and cellular studies on patients’ primary fibroblasts support a role forNEK1missense variants in ALS pathogenesis
Authors: Lattante Serena , Doronzio Paolo Niccolò , Conte Amelia , Marangi Giuseppe , Martello Francesco , Bisogni Giulia , Meleo Emiliana , Colavito Davide , Del Giudice Elda , Patanella Agata Katia , Bernardo Daniela , Romano Angela , Zollino Marcella , Sabatelli Mario 
Published: January 2021

AbstractIn the last few years, NEK1 has been identified as a new gene related to amyotrophic lateral sclerosis (ALS). Loss-of-function variants have been mostly described, although several missense variants exist, which pathogenic relevance remains to be established. We attempted to determine the contribution of NEK1 gene in an Italian cohort of 531 sporadic and familial amyotrophic lateral sclerosis (ALS) patients applying massive parallel sequencing technologies. We filtered results of NEK1 gene and identified 20 NEK1 rare variants (MAF &lt; 0.01) in 22 patients. In particular, we found two novel frameshift variants (p.Glu929Asnfs*12 and p.Val1030Ilefs*23), 18 missense variants, including the p.Arg261His in three patients, and a novel variant in the start codon, the p.Met1?, which most likely impairs translation initiation. To clarify the role of NEK1 missense variants we investigated NEK1 expression in primary fibroblast cultures. We obtained skin biopsies from four patients with NEK1 variants and we assessed NEK1 expression by western blot and immunofluorescence. We detected a decrease in NEK1 expression in fibroblasts from patients with NEK1 variants, suggesting that missense variants in NEK1 gene may have a pathogenic role. Moreover, we observed additional variants in ALS related genes in seven patients with NEK1 variants (32%), further supporting an oligogenic ALS model.
Genetic evidence and historical theories of the Asian and African origins of the present Malagasy population
Authors: Heiske Margit , Alva Omar , Pereda-Loth Veronica , Van Schalkwyk Matthew , Radimilahy Chantal , Letellier Thierry , Rakotarisoa Jean-Aimé , Pierron Denis 
Published: January 2021

Abstract
The origin of the Malagasy population has been a subject of speculation since the 16th century. Contributions of African, Asian, Indian, Melanesian, Arabic and Persian populations have been suggested based on physical and cultural anthropology, oral tradition, linguistics and later also by archaeology. In the mid-20th century, increased knowledge of heredity rules and technical progress enabled the identification of African and Asian populations as main contributors. Recent access to the genomic landscape of Madagascar demonstrated pronounced regional variability in the relative contributions of these two ancestries, yet with significant presence of both African and Asian components throughout Madagascar. This article reviews the extent to which genetic results have settled historical questions concerning the origin of the Malagasy population. After an overview of the early literature, the genetic results of the 20th and 21th centuries are discussed and then complemented by the latest results in genome-wide analyses. While there is still much uncertainty regarding when, how and the circumstances under which the ancestors of the modern Malagasy population arrived on the island, we propose a scenario based on historical texts and genomic results.
Impacts of jellyfish on marine cage aquaculture: an overview of existing knowledge and the challenges to finfish health
Authors: Clinton Morag , Ferrier David E K , Martin Samuel A M , Brierley Andrew S 
Published: January 2021

AbstractGelatinous plankton present a challenge to marine fish aquaculture that remains to be addressed. Shifting plankton distributions, suggested by some to be a result of factors such as climate change and overfishing, appear to be exacerbated by anthropogenic factors linked directly to aquaculture. Fish health can be negatively influenced by exposure to the cnidarian hydrozoan and scyphozoan life stages commonly referred to as “jellyfish”. Impact is particularly pronounced in gill tissue, where three key outcomes of exposure are described; direct traumatic damage, impaired function, and initiation of secondary disease. Cnidarian jellyfish demonstrated to negatively impact fish include Cyanea capillata, Aurelia aurita, and Pelagia noctiluca. Further coelenterates have also been associated with harm to fish, including sessile polyps of species such as Ectopleura larynx. An accurate picture of inshore planktic exposure densities within the coastal environments of aquaculture would aid in understanding cnidarian species of concern, and their impact upon fish health, particularly in gill disease. This information is however presently lacking. This review summarises the available literature regarding the impact of gelatinous plankton on finfish aquaculture, with a focus on cnidarian impact on fish health. Present strategies in monitoring and mitigation are presented, alongside identified critical knowledge gaps.
Modelling of a calcium-looping fluidized bed reactor system for carbon dioxide removal from flue gas
Authors: Maparanyanga Tsitsi , Lokhat David 
Published: January 2021

Abstract
Calcium-looping process was simulated by solution of one-dimensional mass and energy balance equations for both interconnected fluidized bed reactors. Kinetics for the carbonator and calciner were derived from literature sources and were revised to include the effects of sulphation. The degree of apparent carbonation was compared to the actual level of carbon dioxide removal through a series of sensitivity analyses. It has been found that carbonation decreases with an increase in temperature. Sulphation increases with an increase in temperature. The activity of calcium oxide decreases with an increase in carbonation–calcination cycles. Neglecting the effect of sulphation during the design of the calcium-looping system leads to overestimation of active calcium particles that will react with carbon dioxide.
Efficacy estimation of a combination of triple antimicrobial agents against clinical isolates of Mycobacterium abscessus subsp. abscessus in vitro
Authors: Asami Takahiro , Aono Akio , Chikamatsu Kinuyo , Igarashi Yuriko , Morishige Yuta , Murase Yoshiro , Yamada Hiroyuki , Takaki Akiko , Mitarai Satoshi 
Published: January 2021

Abstract

Background
Mycobacterium abscessus subsp. abscessus (M. abscessus) is a rapidly growing mycobacterium that is resistant to most antibiotics. The number of patients with pulmonary disease caused by M. abscessus is increasing in several regions, and therapy involves long-term antibiotic combination treatments, although no standard treatment regimen has been established.

Objectives
To examine candidate regimens for maintenance of antimicrobial treatment against M. abscessus by measuring MIC using the three-drug chequerboard method.

Methods
We evaluated the drug susceptibility of 70 clinical isolates of M. abscessus using the three-drug chequerboard method. We tested the antimycobacterial agents bedaquiline, clofazimine, amikacin, and sitafloxacin (which showed a relatively low MIC range when used as single agents) alone and in combinations.

Results
The three-drug combinations of bedaquiline/clofazimine/amikacin, and bedaquiline/clofazimine/sitafloxacin were studied. Among isolates for which the fractional inhibitory concentration index (FICI) could be calculated, 29/70 isolates (41%) and 11/70 isolates (16%) showed a synergistic response (FICI ≤0.75) with combined use of bedaquiline/clofazimine/amikacin, or with bedaquiline/clofazimine/sitafloxacin, respectively.

Conclusions
The combination of bedaquiline with clofazimine plus either amikacin or sitafloxacin may be useful as maintenance regimens when treating pulmonary disease caused by M. abscessus.
The Lethal Cutting: An Unexpected Cause of Death—A Methomyl Acute Intoxication
Authors: Di Candia Domenico , Boracchi Michele , Muccino Enrico , Gentile Guendalina , Zoja Riccardo 
Published: January 2021

AbstractCocaine is among the illicit substances most frequently implicated in deaths related to the use of drugs of abuse both worldwide and in Italy. Cutting agents involved in the adulterations of this substance are many, and the process of lacing can take place at various stages of the production of the drug. In this report we are discussing the case of a 27-year-old woman found dead next to her car in a wooded area in the suburban area of Milan. On the crime scene, several specimens of white powder were collected and subsequently analyzed via Q-Exactive Orbitrap with an high performance liquid chromatography system and liquid chromatography--tandem mass spectrometry analysis along with biological matrices sampled during autopsy examination. The toxicological analysis revealed that the death could be ascribed to a lethal dose of methomyl, a carbamide pesticide used as cutting agent for cocaine. According to literature, this is the first time that this substance is used as an adulterant.
Ovary-Specific Transcriptome and Essential Role ofNanosin Ovary Development in the Oriental Fruit Fly (Diptera: Tephritidae)
Authors: Hou Qiu-Li , Chen Er-Hu , Xie Yi-Fei , Dou Wei , Wang Jin-Jun 
Published: January 2021

AbstractWe used transcriptome analysis to research ovary development in Bactrocera dorsalis (Hendel). The ovary transcriptome of B. dorsalis yielded 66,463,710 clean reads that were assembled into 23,822 unigenes. After aligning to the Nr database in NCBI, 15,473 (64.95%) of the unigenes were matched to identified proteins. As determined by BLAST search, 11,043 (46.36%), 6,102 (25.61%), and 12,603 (52.90%) unigenes were each allocated to clusters via gene ontology, orthologous groups, and SwissProt, respectively. The Kyoto encyclopedia database of genes and genomes (KEGG) was further used to annotate these sequences, and 11,068 unigenes were mapped to 255 known pathways. Afterward, the genes that were possibly involved in oogenesis and ovary development were obtained from the transcriptome data and analyzed. Interestingly, seven ovary-specific genes were identified, including a Nanos gene that is involved in maintaining the primordial germ cells in many insects. Therefore, we further focused on the function of the BdNanos gene, and the gene was injected into B. dorsalis. As expected, the knocking down of Nanos gene expression led to significant inhibition of ovary development, suggesting an important role of this gene in the reproductive process of B. dorsalis. In summary, the present study provides an important reference for identifying the molecular mechanisms of oogenesis and ovary development in B. dorsalis. The BdNanos gene is crucial for ovary development in B. dorsalis and is therefore a potential new pest control target.
The Museum as a Model for a Human Rights-Based Future: The International Slavery Museum, Liverpool, UK
Authors: Ostow Robin 
Published: January 2021

AbstractThis article explores the social and political history of the International Slavery Museum in Liverpool, UK. Using ethnographic and historical research, it discusses the museum’s origins in the aftermath of the Toxteth disturbances of 1981, its permanent exhibit, its activist projects and its relations with Liverpool’s Black community. It argues that the International Slavery Museum responds to Samuel Moyn’s criticism that human rights theory and practice address past and present abuses, but fail to provide a vision for the future, by supporting human rights culture and organizations and by developing a model for a human rights-based, future oriented organization.
Risk Reduction and Efficiency Increase in Large Portfolios: Gross-Exposure Constraints and Shrinkage of the Covariance Matrix
Authors: Zhao Zhao , Ledoit Olivier , Jiang Hui 
Published: January 2021

AbstractWe investigate the effects of constraining gross-exposure and shrinking covariance matrix in constructing large portfolios, both theoretically and empirically. Considering a wide variety of setups that involve conditioning or not conditioning the covariance matrix estimator on the recent past (multivariate GARCH), smaller versus larger universe of stocks, alternative portfolio formation objectives (global minimum variance versus exposure to profitable factors), and various transaction cost assumptions, we find that a judiciously chosen shrinkage method always outperforms an arbitrarily determined constraint on gross-exposure. We extend the mathematical connection between constraints on the gross-exposure and shrinkage of the covariance matrix from static to dynamic, and provide a new explanation for our finding from the perspective of degrees of freedom. In addition, both simulation and empirical analysis show that the dynamic conditional correlation-nonlinear shrinkage (DCC-NL) estimator results in risk reduction and efficiency increase in large portfolios as long as a small amount of short position is allowed, whereas imposing a constraint on gross-exposure often hurts a DCC-NL portfolio.
Estimating the Speed of Adjustment of Leverage in the Presence of Interactive Effects
Authors: Westerlund Joakim , Karabiyik Hande , Narayan Paresh Kumar , Narayan Seema 
Published: January 2021

Abstract
Dynamic panel data regression models with fixed effects to account for unobserved heterogeneity are standard econometric tools. It is not until recently, however, that the problems involved when fitting such regressions to leverage data have been investigated. The main problem is that models of leverage are extremely noisy, much more so than what can be accommodated using fixed effects. The present article can be seen as a reaction to this. The purpose is to consider a more general interactive effects model in which there are multiple time effects, each with their own firm-specific sensitivities. Our empirical results suggest that proper accounting for the interactive effects and the bias that they cause leads to a marked increase in the estimated speed of adjustment to target leverage.
Deficit Accumulation Frailty Trajectories of Older Breast Cancer Survivors and Non-Cancer Controls: The Thinking and Living With Cancer Study
Authors: Mandelblatt Jeanne S , Zhou Xingtao , Small Brent J , Ahn Jaeil , Zhai Wanting , Ahles Tim , Extermann Martine , Graham Deena , Jacobsen Paul B , Jim Heather , McDonald Brenna C , Patel Sunita J , Root James C , Saykin Andrew J , Cohen Harvey Jay , Carroll Judith E 
Published: January 2021

Abstract

Background
We evaluated deficit accumulation and how deficits affected cognition and physical activity among breast cancer survivors and non-cancer controls.

Methods
Newly diagnosed nonmetastatic survivors (n = 353) and matched non-cancer controls (n = 355) ages 60-98 years without neurological impairments were assessed presystemic therapy (or at enrollment for controls) from August 2010 to December 2016 and followed for 36 months. Scores on a 42-item index were analyzed in growth-mixture models to determine deficit accumulation trajectories separately and combined for survivors and controls. Multilevel models tested associations between trajectory and cognition (FACT-Cog and neuropsychological tests) and physical activity (IPAQ-SF) for survivors and controls.

Results
Deficit accumulation scores were in the robust range, but survivors had higher scores (95% confidence intervals [CI]) than controls at 36 months (0.18, 95% CI = 0.16 to 0.19, vs 0.16, 95% CI = 0.14 to 0.17; P = .001), and averages included diverse deficit trajectories. Survivors who were robust but became frailer (8.8%) had similar baseline characteristics to those remaining robust (76.2%) but experienced a 9.6-point decline self-reported cognition (decline of 9.6 vs 3.2 points; P = .04) and a 769 MET minutes per week decline in physical activity (P &lt; .001). Survivors who started and remained prefrail (15.0%) had self-reported and objective cognitive problems. At baseline, frail controls (9.5%) differed from robust controls (83.7%) on deficits and self-reported cognition (P &lt; .001). Within combined trajectories, frail survivors had more sleep disturbances than frail controls (48.6% [SD = 17.4%] vs 25.0% [SD = 8.2%]; P = .05).

Conclusions
Most survivors and controls remained robust, and there were similar proportions on a frail trajectory. However, there were differences in deficit patterns between survivors and controls. Survivor deficit accumulation trajectory was associated with patient-reported outcomes. Additional research is needed to understand how breast cancer and its treatments affect deficit accumulation.
An Experimental Comparison of Three Strategies for Converting Mail Respondents in a Probability-Based Mixed-Mode Panel to Internet Respondents
Authors: Bretschi David , Schaurer Ines , Dillman Don A 
Published: January 2021

AbstractIn recent years, web-push strategies have been developed in cross-sectional mixed-mode surveys to improve response rates and reduce the costs of data collection. However, pushing respondents into the more cost-efficient web mode has rarely been examined in the context of panel surveys. This study evaluates how a web-push intervention affects the willingness of panel members to switch survey modes from mail to web. We tested three web-push strategies in a German probability-based mixed-mode panel by randomly assigning 1,895 panelists of the mail mode to one of three conditions: (1) the web option was offered to panelists concurrently with the paper questionnaire including a promised €10 incentive for completing the survey on the web, (2) the web option was presented sequentially two weeks before sending the paper questionnaire and respondents were also promised an incentive of €10, or (3) same sequential web-first approach as for condition 2, but with a prepaid €10 incentive instead of a promised incentive. The study found that a sequential presentation of the web option significantly increases the web response in a single survey but may not motivate more panelists to switch to the web mode permanently. Contrary to our expectation, offering prepaid incentives neither improves the web response nor the proportion of mode switchers. Overall, all three web-push strategies show the potential to effectively reduce survey costs without causing differences in panel attrition after five consecutive waves. Condition 2, the sequential web-first design combined with a promised incentive was most effective in pushing respondents to switch to the web mode and in reducing costs.
Top 10 Research Priorities for U.S. Military En Route Combat Casualty Care
Authors: Hatzfeld Jennifer J , Hildebrandt George , Maddry Joseph K , Rodriquez Dario , Bridges Elizabeth , Ritter Anne C , Gardner Cubby L , Bebarta Vikhyat S , Cap Andrew P 
Published: January 2021

ABSTRACTIntroductionWithin the Military Health System, the process of transporting patients from an initial point of injury and throughout the entire continuum of care is called “en route care.” A Committee on En Route Combat Casualty Care was established in 2016 as part of the DoD Joint Trauma System to create practice guidelines, recommend training standards, and identify research priorities within the military en route care system.Materials and MethodsFollowing an analysis of currently funded research, future capabilities, and findings from a comprehensive scoping study, members of a sub-working group for research identified the top research priorities that were needed to better guide evidence-based decisions for practice and policy, as well as the future state of en route care.ResultsBased on the input from the entire committee, 10 en route care research topics were rank-ordered in the following manner: (1) medical documentation, (2) clinical decision support, (3) patient monitoring, (4) transport physiology, (5) transfer of care, (6) maintaining normothermia, (7) transport timing following damage control resuscitation or surgery, (8) intelligent tasking, (9) commander’s risk assessment, and (10) unmanned transport. Specific research questions and technological development needs were further developed by committee members in an effort to guide future research and development initiatives that can directly support operational en route care needs. The research priorities reflect three common themes, which include efforts to enhance or increase care provider capability and capacity; understand the impact of transportation on patient physiology; and increase the ability to coordinate, communicate, and facilitate patient movement. Technology needs for en route care must support interoperability of medical information, equipment, and supplies across the global military health system in addition to adjusting to a dynamic transport environment with the smallest possible weight, space, and power requirements.ConclusionsTo ensure an evidence-based approach to future military conflicts and other medical challenges, focused research and technological development to address these 10 en route care research gaps are urgently needed.
The inner circumstellar dust of the red supergiant Antares as seen with VLT/SPHERE/ZIMPOL
Authors: Cannon E , Montargès M , de Koter A , Decin L , Min M , Lagadec E , Kervella P , Sundqvist J O , Sana H 
Published: January 2021

ABSTRACT
The processes by which red supergiants lose mass are not fully understood thus-far and their mass-loss rates lack theoretical constraints. The ambient surroundings of the nearby M0.5 Iab star Antares offer an ideal environment to obtain detailed empirical information on the outflow properties at its onset, and hence indirectly, on the mode(s) of mass-loss. We present and analyse optical VLT/SPHERE/ZIMPOL polarimetric imaging with angular resolution down to 23 milliarcsec, sufficient to spatially resolve both the stellar disc and its direct surroundings. We detect a conspicuous feature in polarized intensity that we identify as a clump containing dust, which we characterize through 3D radiative transfer modelling. The clump is positioned behind the plane of the sky, therefore has been released from the backside of the star, and its inner edge is only 0.3 stellar radii above the surface. The current dust mass in the clump is $1.3^{+0.2}_{-1.0} \times 10^{-8} \, \mathrm{M}_{\odot }$, though its proximity to the star implies that dust nucleation is probably still ongoing. The ejection of clumps of gas and dust makes a non-negligible contribution to the total mass lost from the star that could possibly be linked to localized surface activity such as convective motions or non-radial pulsations.