bluuebunny/crossref_metadata_2025_split huggingface dataset:
Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T&gt;a Variant in the FKRP Gene in Humans and Mice
Authors: Brown Susan C , Fernandez-Fuente Marta , Muntoni Francesco , Vissing John 
Published: October 2020

Abstract
Mutations in the fukutin-related protein gene, FKRP, are the most frequent single cause of α-dystroglycanopathy. Rare FKRP mutations are clinically not well characterized. Here, we review the phenotype associated with the rare c.919T&gt;A mutation in FKRP in humans and mice. We describe clinical and paraclinical findings in 6 patients, 2 homozygous, and 4-compound heterozygous for c.919T&gt;A, and compare findings with a mouse model we generated, which is homozygous for the same mutation. In patients, the mutation at the homozygous state is associated with a severe congenital muscular dystrophy phenotype invariably characterized by severe multisystem disease and early death. Compound heterozygous patients have a severe limb-girdle muscular dystrophy phenotype, loss of ambulation before age 20 and respiratory insufficiency. In contrast, mice homozygous for the same mutation show no symptoms or signs of muscle disease. Evidence therefore defines the FKRP c.919T&gt;A as a very severe mutation in humans. The huge discrepancy between phenotypes in humans and mice suggests that differences in protein folding/processing exist between human and mouse Fkrp. This emphasizes the need for more detailed structural analyses of FKRP and shows the challenges of developing appropriate animal models of dystroglycanopathies that mimic the disease course in humans.
Gravitoviscous protoplanetary discs with a dust component – IV. Disc outer edges, spectral indices, and opacity gaps
Authors: Akimkin Vitaly , Vorobyov Eduard , Pavlyuchenkov Yaroslav , Stoyanovskaya Olga 
Published: October 2020

ABSTRACT
The crucial initial step in planet formation is the agglomeration of micron-sized dust into macroscopic aggregates. This phase is likely to happen very early during the protostellar disc formation, which is characterized by active gas dynamics. We present numerical simulations of protostellar/protoplanetary disc long-term evolution, which includes gas dynamics with self-gravity in the thin-disc limit, and bidisperse dust grain evolution due to coagulation, fragmentation, and drift through the gas. We show that the decrease of the grain size to the disc periphery leads to sharp outer edges in dust millimetre emission, which are explained by a drop in dust opacity coefficient rather than by dust surface density variations. These visible outer edges are at the location where average grain size ≈λ/2$\pi$, where λ is the observational wavelength, so discs typically look more compact at longer wavelengths if dust size decreases outwards. This allows a simple recipe for reconstructing grain sizes in disc outer regions. Discs may look larger at longer wavelengths if grain size does not reach λ/2$\pi$ for some wavelength. Disc visible sizes evolve non-monotonically over the first million years and differ from dust and gas physical sizes by factor of a few. We compare our model with recent observation data on gas and dust disc sizes, far-infrared fluxes, and spectral indices of protoplanetary discs in Lupus. We also show that non-monotonic variations of the grain size in radial direction can cause wavelength-dependent opacity gaps, which are not associated with any physical gaps in the dust density distribution.
Mixed-morphology supernova remnants: the case of SNR 0520–69.4 in the Large Magellanic Cloud
Authors: Ramírez-Ballinas I , Reyes-Iturbide J , Ambrocio-Cruz P , Gabbasov R , Rosado M 
Published: October 2020

ABSTRACT
We present observations in X-ray and optical emission of the supernova remnant (SNR) 0520–69.4 in the Large Magellanic Cloud. Using XMM–Newton observatory data, we produced images of the diffuse X-ray emission and spectra to obtain the X-ray parameters, such as luminosity and temperature, of hot plasma in the SNR. Diffuse X-ray emission with filled-centre morphology goes beyond the Hα region, suggesting that the hot gas escapes through the pores of the Hα shell. We fitted a model that has a plasma temperature of 1.1 × 107 K for an X-ray thermal luminosity of 3.3 × 1035 erg s−1. However, from Hα and [O iii] Fabry–Perot observations obtained with the Marseille Hα Survey of the Magellanic Clouds and the Milky Way at La Silla, European Southern Observatory, we are able to obtain physical parameters such as the velocity of the shock induced in the cloudlets emitting at optical wavelengths and the electron density of this gas. With the parameters described above, we test the model proposed by White & Long (1991, ApJ, 373, 543) for explaining the mixed-morphology observed.
Constraints on the [C ii] luminosity of a proto-globular cluster at z ∼ 6 obtained with ALMA
Authors: Calura Francesco , Vanzella Eros , Carniani Stefano , Gilli Roberto , Rosati Piero , Meneghetti Massimo , Paladino Rosita , Decarli Roberto , Brusa Marcella , Lupi Alessandro , D’Amato Quirino , Bergamini Pietro , Caminha Gabriel B 
Published: October 2020

ABSTRACT
We report on ALMA observations of D1, a system at z ∼ 6.15 with stellar mass $M_{*} \sim 10^7 \, \mathrm{M}_{\odot }$ containing globular cluster (GC) precursors, strongly magnified by the galaxy cluster MACS J0416.1-2403. Since the discovery of GC progenitors at high redshift, ours is the first attempt to probe directly the physical properties of their neutral gas through infrared observations. A careful analysis of our data set, performed with a suitable procedure designed to identify faint narrow lines and which can test various possible values for the unknown linewidth value, allowed us to identify a 4σ tentative detection of [C ii] emission with intrinsic luminosity $L_{\rm [C\, \rm {\small II}]}=(2.9 \pm 1.4)~10^6 \, {\it L}_{\odot }$, one of the lowest values ever detected at high redshift. This study offers a first insight on previously uncharted regions of the $L_{\rm [C\, \rm {\small II}]}{-}{\rm SFR}$ relation. Despite large uncertainties affecting our measure of the star formation rate, if taken at face value our estimate lies more than ∼1 dex below the values observed in local and high redshift systems. Our weak detection indicates a deficiency of [C ii] emission, possibly ascribed to various explanations, such as a low-density gas and/or a strong radiation field caused by intense stellar feedback, and a low metal content. From the non-detection in the continuum, we derive constraints on the dust mass, with 3σ upper limit values as low as ∼ a few 104 M⊙, consistent with the values measured in local metal-poor galaxies.
IllustrisTNG and S2COSMOS: possible conflicts in the evolution of neutral gas and dust
Authors: Millard Jenifer S , Diemer Benedikt , Eales Stephen A , Gomez Haley L , Beeston Rosemary , Smith Matthew W L 
Published: October 2020

ABSTRACT
We investigate the evolution in galactic dust mass over cosmic time through (i) empirically derived dust masses using stacked submillimetre fluxes at 850 μm in the COSMOS field and (ii) dust masses derived using a robust post-processing method on the results from the cosmological hydrodynamical simulation IllustrisTNG. We effectively perform a ‘self-calibration’ of the dust mass absorption coefficient by forcing the model and observations to agree at low redshift and then compare the evolution shown by the observations with that predicted by the model. We create dust mass functions (DMFs) based on the IllustrisTNG simulations from 0 &lt; z &lt; 0.5 and compare these with previously observed DMFs. We find a lack of evolution in the DMFs derived from the simulations, in conflict with the rapid evolution seen in empirically derived estimates of the low-redshift DMF. Furthermore, we observe a strong evolution in the observed mean ratio of dust mass to stellar mass of galaxies over the redshift range 0 &lt; z &lt; 5, whereas the corresponding dust masses from IllustrisTNG show relatively little evolution, even after splitting the sample into satellites and centrals. The large discrepancy between the strong observed evolution and the weak evolution predicted by IllustrisTNG plus post-processing may be explained by either strong cosmic evolution in the properties of the dust grains or limitations in the model. In the latter case, the limitation may be connected to previous claims that the neutral gas content of galaxies does not evolve fast enough in IllustrisTNG.
Black hole mass accretion rates and efficiency factors for over 750 AGN and multiple GBH
Authors: Daly Ruth A 
Published: October 2020

ABSTRACT
Mass accretion rates in dimensionless and physical units, and efficiency factors describing the total radiant luminosity of the disc and the beam power of the outflow are obtained and studied here for samples of black hole systems with outflows. Four samples of sources including 576 LINERs, 100 classical double (FRII) radio sources, 80 relatively local AGN, and 103 measurements of four stellar mass X-ray binary systems, referred to as Galactic Black Holes (GBHs), are included in the study. All of the sources have highly collimated outflows leading to compact radio emission or powerful extended (FRII) radio emission. The properties of each of the full samples are explored, as are those of the four individual GBH, and sub-types of the FRII and local AGN samples. Source types and sub-types that have high, medium, and low values of accretion rates and efficiency factors are identified and studied. A new efficiency factor that describes the relative impact of black hole spin and mass accretion rate on the beam power is defined and studied, and is found to provide a new and interesting diagnostic. Mass accretion rates for 13 sources and efficiency factors for 6 sources are compared with values obtained independently, and indicate that similar values are obtained with independent methods. The mass accretion rates and efficiency factors obtained here substantially increase the number of values available, and improve our understanding of their relationship to source types. The redshift dependence of quantities is presented and the impact on the results is discussed.
On the Nonindependent Parts of Time-Consciousness: Husserl’s Early Phenomenological Investigations and the Perception of Melody
Authors: Wiskus Jessica 
Published: October 2020

Abstract
Drawing upon Edmund Husserl’s Logical Investigations, I apply the laws of mereology—the study of parts and wholes—to the analysis of time-consciousness in his On the Phenomenology of the Consciousness of Internal Time (1893–1917), arguing that Husserl’s phenomenological solution to problems raised by empirical psychology in the late nineteenth century concerning the relation between subject and object was inspired by a rethinking of the notion of intentionality in terms of an extensional whole. Turning, then, to descriptions from Husserl’s careful analyses of tone and melody in On the Phenomenology of the Consciousness of Internal Time (1893–1917), I claim that melody’s structure of expression pertains specifically to retention (which I distinguish from recollection) as a nonindependent part of a flowing whole. This mereologic reformulation helps us think through the problem of how a melody is perceived in time. Furthermore, I show how, according to Husserl, there is a unity of the sensation of “tone” and the “flow of consciousness,” and I argue that by understanding this unity as a whole of nonindependent parts, we grasp a significant insight that illuminates phenomenology’s overall aim of considering the evidence of empirical science together with the formal laws of logic.
A unified model for the G1/S cell cycle transition
Authors: Hume Samuel , Dianov Grigory L , Ramadan Kristijan 
Published: October 2020

AbstractEfficient S phase entry is essential for development, tissue repair, and immune defences. However, hyperactive or expedited S phase entry causes replication stress, DNA damage and oncogenesis, highlighting the need for strict regulation. Recent paradigm shifts and conflicting reports demonstrate the requirement for a discussion of the G1/S transition literature. Here, we review the recent studies, and propose a unified model for the S phase entry decision. In this model, competition between mitogen and DNA damage signalling over the course of the mother cell cycle constitutes the predominant control mechanism for S phase entry of daughter cells. Mitogens and DNA damage have distinct sensing periods, giving rise to three Commitment Points for S phase entry (CP1-3). S phase entry is mitogen-independent in the daughter G1 phase, but remains sensitive to DNA damage, such as single strand breaks, the most frequently-occurring lesions that uniquely threaten DNA replication. To control CP1-3, dedicated hubs integrate the antagonistic mitogenic and DNA damage signals, regulating the stoichiometric cyclin: CDK inhibitor ratio for ultrasensitive control of CDK4/6 and CDK2. This unified model for the G1/S cell cycle transition combines the findings of decades of study, and provides an updated foundation for cell cycle research.
MYC as a driver of stochastic chromatin networks: implications for the fitness of cancer cells
Authors: Sumida Noriyuki , Sifakis Emmanouil G , Kiani Narsis A , Ronnegren Anna Lewandowska , Scholz Barbara A , Vestlund Johanna , Gomez-Cabrero David , Tegner Jesper , Göndör Anita , Ohlsson Rolf 
Published: October 2020

Abstract
The relationship between stochastic transcriptional bursts and dynamic 3D chromatin states is not well understood. Using an innovated, ultra-sensitive technique, we address here enigmatic features underlying the communications between MYC and its enhancers in relation to the transcriptional process. MYC thus interacts with its flanking enhancers in a mutually exclusive manner documenting that enhancer hubs impinging on MYC detected in large cell populations likely do not exist in single cells. Dynamic encounters with pathologically activated enhancers responsive to a range of environmental cues, involved &lt;10% of active MYC alleles at any given time in colon cancer cells. Being the most central node of the chromatin network, MYC itself likely drives its communications with flanking enhancers, rather than vice versa. We submit that these features underlie an acquired ability of MYC to become dynamically activated in response to a diverse range of environmental cues encountered by the cell during the neoplastic process.
Temporal, spatial, and genetic constraints contribute to the patterning and penetrance of murine neurofibromatosis-1 optic glioma
Authors: Brossier Nicole M , Thondapu Sharanya , Cobb Olivia M , Dahiya Sonika , Gutmann David H 
Published: October 2020

Abstract

Background
Brain tumors are the most common solid tumors of childhood, but little is understood about the factors that influence their development. Pediatric low-grade gliomas in particular display unique temporal and spatial localization associated with different genetic mutations (eg, BRAF genomic alterations, mutations in the neurofibromatosis type 1 [NF1] gene) for reasons that remain unclear. NF1 low-grade gliomas typically arise in the optic pathway of young children as optic pathway gliomas (OPGs), likely from a cell of origin that resides within the third ventricular zone (TVZ). However, the factors that contribute to their distinct temporal patterning and penetrance have not been adequately explored.

Methods
TVZ neuroglial progenitor cells (NPCs) were analyzed over the course of mouse brain development. Progenitors isolated by fluorescence-activated cell sorting (FACS) were assessed for functional and molecular differences. The impact of different germline Nf1 mutations on TVZ NPC properties was analyzed using genetically engineered mice.

Results
We identify 3 individual factors that could each contribute to Nf1 optic glioma temporal patterning and penetrance. First, there are 3 functionally and molecularly distinct populations of mouse TVZ NPCs, one of which (“M” cells) exhibits the highest clonogenic incidence, proliferation, and abundance during embryogenesis. Second, TVZ NPC proliferation dramatically decreases after birth. Third, germline Nf1 mutations differentially increase TVZ NPC proliferation during embryogenesis.

Conclusions
The unique temporal patterning and penetrance of Nf1 optic glioma reflects the combined effects of TVZ NPC population composition, time-dependent changes in progenitor proliferation, and the differential impact of the germline Nf1 mutation on TVZ NPC expansion.
Seasonal Variation in Demand for Smoking Cessation Treatment and Clinical Outcomes
Authors: Veldhuizen Scott , Zawertailo Laurie , Ivanova Anna , Hussain Sarwar , Selby Peter 
Published: October 2020

Abstract

Introduction
Smoking behaviour shows seasonal variation, with cigarette consumption and youth smoking onset highest in summer and smoking-related web searches and sales of nicotine replacement products highest in winter. Variation in demand for clinical care and in outcomes has not been explored.

Aims and Methods
We measure seasonal variation in enrolments, total clinical visits, visits per enrolment, and treatment outcome (7-day abstinence at 6-month follow-up) from 2015 to 2018 in a large (n = 85 869) clinical cohort from 454 clinics across Ontario, Canada. We model seasonality using harmonic logistic and negative binomial regression. For individual-level outcomes, we adjust for variables, selected a priori, known to be associated with treatment use or outcomes. Data are nearly complete for 3 outcomes, but 6m abstinence is missing for 45% of participants. We use multiple imputation to adjust for missing data.

Results
All four outcomes showed significant seasonal variation (all p &lt;.001). Total enrolments and visits were 20%–25% higher in January–April than in June–September. Visits per enrolment varied slightly, with lowest levels from May–July. Abstinence at 6 months was lowest among individuals enrolled from February–May and highest for those enrolled from July–November, with an absolute peak-trough difference of 4.3% (95% CI = 3.2% to 5.5%).

Conclusions
There is meaningful seasonal variation in demand for, and outcomes of, smoking cessation treatment. Climate and weather may be indirectly responsible. Seasonal differences underscore the general importance of contextual factors in smoking cessation, may be useful in program promotion, and may explain some variability in outcomes in evaluation and research.

Implications
Demand for tobacco cessation treatment and clinical outcomes vary seasonally. This underscores the importance of context in substance-related problems, and implies that some variability in research and evaluation results may be due to the time of year data were collected. Promotion efforts might usefully consider seasonal effects to smooth out demand and possibly improve outcomes.
Styles of Representation in Constituencies in the Homeland and Abroad: The Case of Italy
Authors: Østergaard-Nielsen Eva , Camatarri Stefano 
Published: October 2020

Abstract
The role orientation of political representatives and candidates is a longstanding concern in studies of democratic representation. The growing trend in countries to allow citizens abroad to candidate in homeland elections from afar provides an interesting opportunity for understanding how international mobility and context influences ideas of representation among these emigrant candidates. In public debates, emigrant candidates are often portrayed as delegates of the emigrant constituencies. However, drawing on the paradigmatic case of Italy and an original data set comprising emigrant candidates, we show that the perceptions of styles of representation abroad are more complex. Systemic differences between electoral districts at home and abroad are relevant for explaining why and how candidates develop a trustee or delegate orientation.
Brachial Plexus Neuropathies During the COVID-19 Pandemic: A Retrospective Case Series of 15 Patients in Critical Care
Authors: Miller Caroline , O'Sullivan Joel , Jeffrey Jack , Power Dominic 
Published: October 2020

Abstract

Objective
The use of the prone position to treat patients with COVID-19 pneumonia who are critically ill and mechanically ventilated is well documented. This case series reports the location, severity, and prevalence of focal peripheral nerve injuries involving the upper limb identified in an acute COVID-19 rehabilitation setting. The purpose of this study was to report observations and to explore the challenges in assessing these patients.

Methods
Participants were patients with suspected peripheral nerve injuries following discharge from COVID-19 critical care who were referred to the peripheral nerve injury multidisciplinary team. Data were collected retrospectively on what peripheral neuropathies were observed, with reference to relevant investigation findings and proning history.

Results
During the first wave of the COVID-19 pandemic in the United Kingdom, 256 patients were admitted to COVID-19 critical care of Queen Elizabeth Hospital, Birmingham, United Kingdom. From March to June 2020, a total of 114 patients required prone ventilation. In this subgroup, a total of 15 patients were identified with clinical findings of peripheral nerve injuries within the upper limb. In total, 30 anatomical nerve injuries were recorded. The most commonly affected nerve was the ulnar nerve (12/30) followed by the cords of the brachial plexus (10/30). Neuropathic pain and muscle wasting were identified, signifying a high-grade nerve injury.

Conclusion
Peripheral nerve injuries can be associated with prone positioning on intensive care units, although other mechanisms, such as those of a neuroinflammatory nature, cannot be excluded.

Impact
Proning-related upper limb peripheral nerve injuries are not discussed widely in the literature and could be an area of further consideration when critical care units review their proning protocols. Physical therapists treating these patients play a key part in the management of this group of patients by optimizing the positioning of patients during proning, making early identification of peripheral nerve injuries, providing rehabilitation interventions, and referring to specialist services if necessary.

Lay Summary
During the COVID-19 pandemic, patients who are very ill can be placed for long periods of time on their stomach to improve their chances of survival. The potential consequences of prolonged time in this position are weakness and pain in the arms due to potential nerve damage. There are some recommended treatments to take care of these problems.