bluuebunny/crossref_metadata_2025_split huggingface dataset:
Super-resolution imaging reveals α-synuclein seeded aggregation in SH-SY5Y cells
Authors: Sang Jason C. , Hidari Eric , Meisl Georg , Ranasinghe Rohan T. , Spillantini Maria Grazia , Klenerman David 
Published: May 2021

AbstractAggregation of α-synuclein (α-syn) is closely linked to Parkinson’s disease (PD) and the related synucleinopathies. Aggregates spread through the brain during the progression of PD, but the mechanism by which this occurs is still not known. One possibility is a self-propagating, templated-seeding mechanism, but this cannot be established without quantitative information about the efficiencies and rates of the key steps in the cellular process. To address this issue, we imaged the uptake and seeding of unlabeled exogenous α-syn fibrils by SH-SY5Y cells and the resulting secreted aggregates, using super-resolution microscopy. Externally-applied fibrils very inefficiently induced self-assembly of endogenous α-syn in a process accelerated by the proteasome. Seeding resulted in the increased secretion of nanoscopic aggregates (mean 35 nm diameter), of both α-syn and Aβ. Our results suggest that cells respond to seed-induced disruption of protein homeostasis predominantly by secreting nanoscopic aggregates; this mechanism may therefore be an important protective response by cells to protein aggregation.
Effect of different monomer precursors with identical functionality on the properties of the polymer network
Authors: Torres-Knoop Ariana , Schamboeck Verena , Govindarajan Nitish , Iedema Pieter D. , Kryven Ivan 
Published: May 2021

AbstractThe association between thermo-mechanical properties in polymers and functionality of monomer precursors is frequently exploited in the materials science. However, it is not known if there are more variables beyond monomer functionality that have a similar link. Here, by using simulations to generate spatial networks from chemically different monomers with identical functionality we show that such networks have universal graph-theoretical properties as well as a near-universal elastic modulus. The vitrification temperature was found to be universal only up to a certain network density, as measured by the bond conversion. The latter observation is explained by the fact that monomer’s tendency to coil enhances formation of topological holes, which, when accumulated, amount to a percolating cell complex restricting network’s mobility. This higher-order percolation occurs late after gelation and is shown to coincide with the onset of brittleness, as indicated by a sudden increase in the glass transition temperature.
Automated analysis of genomic sequences facilitates high-throughput and comprehensive description of bacteria
Authors: Hitch Thomas C A , Riedel Thomas , Oren Aharon , Overmann Jörg , Lawley Trevor D , Clavel Thomas 
Published: May 2021

Abstract
The study of microbial communities is hampered by the large fraction of still unknown bacteria. However, many of these species have been isolated, yet lack a validly published name or description. The validation of names for novel bacteria requires that the uniqueness of those taxa is demonstrated and their properties are described. The accepted format for this is the protologue, which can be time-consuming to create. Hence, many research fields in microbiology and biotechnology will greatly benefit from new approaches that reduce the workload and harmonise the generation of protologues.
We have developed Protologger, a bioinformatic tool that automatically generates all the necessary readouts for writing a detailed protologue. By producing multiple taxonomic outputs, functional features and ecological analysis using the 16S rRNA gene and genome sequences from a single species, the time needed to gather the information for describing novel taxa is substantially reduced. The usefulness of Protologger was demonstrated by using three published isolate collections to describe 34 novel taxa, encompassing 17 novel species and 17 novel genera, including the automatic generation of ecologically and functionally relevant names. We also highlight the need to utilise multiple taxonomic delineation methods, as while inconsistencies between each method occur, a combined approach provides robust placement. Protologger is open source; all scripts and datasets are available, along with a webserver at www.protologger.de
Seasonal change is a major driver of soil resistomes at a watershed scale
Authors: Xiang Qian , Qiao Min , Zhu Dong , Giles Madeline , Neilson Roy , Yang Xiao-Ru , Zhu Yong-Guan , Chen Qing-Lin 
Published: May 2021

Abstract
Soils harbor the most diverse naturally evolved antibiotic resistomes on Earth that threaten human health, ecosystem processes, and food security. Yet the importance of spatial and temporal variability in shaping the distribution of soil resistomes is not well explored. Here, a total of 319 topsoil samples were collected at a watershed scale during four seasons (spring to winter) and high-throughput quantitative PCR (HT-qPCR) was used to characterize the profiles of soil antibiotic resistance genes (ARGs). A significant and negative correlation was observed between soil ARG profiles and seasonal dissimilarity, which along with seasonally dependent distance-decay relationships highlight the importance of seasonal variability in shaping soil antibiotic resistomes. Significant, though weak, distance-decay relationships were identified in spring, summer and winter, for ARG similarities with geographic distances. There were also strong interactions between specific soil ARGs and Actinobacteria, Firmicutes and Proteobacteria. Moreover, we found that the relative abundance of soil Actinobacteria, Firmicutes and Proteobacteria correlated significantly with annual mean temperature and annual mean precipitation at a watershed scale. A random forest model showed that seasonal change rather than spatial variation was the most important predictor of the composition of soil ARGs. Together, these results constitute an advance in our understanding of the relative importance of spatial and temporal variability in shaping soil ARG profiles, which will provide novel insights allowing us to forecast their distribution under a changing environment.
Synthetic gamma-ray light curves of Kerr black hole magnetospheric activity from particle-in-cell simulations
Authors: Crinquand B. , Cerutti B. , Dubus G. , Parfrey K. , Philippov A. 
Published: May 2021

Context. The origin of ultra-rapid flares of very high-energy radiation from active galactic nuclei remains elusive. Magnetospheric processes, occurring in the close vicinity of the central black hole, could account for these flares.
Aims. Our aim is to bridge the gap between simulations and observations by synthesizing gamma-ray light curves in order to characterize the activity of a black hole magnetosphere, using kinetic simulations.
Methods. We performed global axisymmetric 2D general-relativistic particle-in-cell simulations of a Kerr black hole magnetosphere. We included a self-consistent treatment of radiative processes and plasma supply, as well as a realistic magnetic configuration, with a large-scale equatorial current sheet. We coupled our particle-in-cell code with a ray-tracing algorithm in order to produce synthetic light curves.
Results. These simulations show a highly dynamic magnetosphere, as well as very efficient dissipation of the magnetic energy. An external supply of magnetic flux is found to maintain the magnetosphere in a dynamic state, otherwise the magnetosphere settles in a quasi-steady Wald-like configuration. The dissipated energy is mostly converted to gamma-ray photons. The light curves at low viewing angle (face-on) mainly trace the spark gap activity and exhibit high variability. On the other hand, no significant variability is found at high viewing angle (edge-on), where the main contribution comes from the reconnecting current sheet.
Conclusions. We observe that black hole magnetospheres with a current sheet are characterized by a very high radiative efficiency. The typical amplitude of the flares in our simulations is lower than is detected in active galactic nuclei. These flares could result from the variation in parameters external to the black hole.
Comparison of active region upflow and core properties using simultaneous spectroscopic observations from IRIS and Hinode
Authors: Barczynski Krzysztof , Harra Louise , Kleint Lucia , Panos Brandon , Brooks David H. 
Published: May 2021

Context. The origin of the slow solar wind is still an open issue. It has been suggested that upflows at the edge of active regions are a possible source of the plasma outflow and therefore contribute to the slow solar wind.
Aims. We investigate the origin and morphology of the upflow regions and compare the upflow region and the active region core properties.
Methods. We studied how the plasma properties of flux, Doppler velocity, and non-thermal velocity change throughout the solar atmosphere, from the chromosphere via the transition region to the corona in the upflow region and the core of an active region. We studied limb-to-limb observations of the active region (NOAA 12687) obtained from 14 to 25 November 2017. We analysed spectroscopic data simultaneously obtained from IRIS and Hinode/EIS in the six emission lines Mg II 2796.4Å, C II 1335.71Å, Si IV 1393.76Å, Fe XII 195.12Å, Fe XIII 202.04Å, and Fe XIV 270.52Å and 274.20Å. We studied the mutual relationships between the plasma properties for each emission line, and we compared the plasma properties between the neighbouring formation temperature lines. To find the most characteristic spectra, we classified the spectra in each wavelength using the machine learning technique k-means.
Results. We find that in the upflow region the Doppler velocities of the coronal lines are strongly correlated, but the transition region and coronal lines show no correlation. However, their fluxes are strongly correlated. The upflow region has a lower density and lower temperature than the active region core. In the upflow region, the Doppler velocity and non-thermal velocity show a strong correlation in the coronal lines, but the correlation is not seen in the active region core. At the boundary between the upflow region and the active region core, the upflow region shows an increase in the coronal non-thermal velocity, the emission obtained from the DEM, and the domination of the redshifted regions in the chromosphere.
Conclusions. The obtained results suggest that at least three parallel mechanisms generate the plasma upflow: (1) The reconnection between closed loops and open magnetic field lines in the lower corona or upper chromosphere; (2) the reconnection between the chromospheric small-scale loops and open magnetic field; and (3) the expansion of the magnetic field lines that allows the chromospheric plasma to escape to the solar corona.
Charakteristika von durch den Innovationsfonds geförderten
Interventionsstudien: Review und Dokumentenanalyse von Studienprotokollen,
Publikationen und Abschlussberichten
Authors: Heytens Heike , Walther Felix , Keßler Laura , Bremer Daniel , Frenz Elisa , Härter Martin , Geraedts Max , Bierbaum Thomas , Apfelbacher Christian , Schmitt Jochen 
Published: May 2021

ZusammenfassungDieses prospektiv registrierte Review charakterisiert 50 Interventionsstudien der
ersten Welle des Innovationsfonds auf Grundlage von Studienprotokollen oder
Originalartikeln. Die mehrheitlich (randomisierten) kontrollierten
Interventionsstudien bezogen überwiegend Erwachsene bzw. Senioren in
ambulanter Versorgung ohne regionalen Fokus ein und analysierten
Behandlungsprozesse mit heterogenen klinischen und Patientenoutcomes als
Zielgrößen. Die zu einem substantiellen Teil fehlenden
Studienprotokolle und methodischen Details (u. a. Fallzahlplanung)
zeigen (vermeidbare) methodische Probleme hinsichtlich der wissenschaftlichen
Qualität der geförderten Studien auf.
Swimming with Swimsuit and Wetsuit at Typical vs. Cold-water
Temperatures (26 vs. 18 ℃)
Authors: Gay Ana , Zacca Rodrigo , Abraldes J. Arturo , Morales-Ortíz Esther , López-Contreras Gracia , Fernandes Ricardo J. , Arellano Raúl 
Published: May 2021

AbstractThis study aimed to compare three swimming conditions in a swimming flume with
water at 26 ℃ (using swimsuit) and 18 ℃
(randomly with swimsuit and wetsuit). Seventeen swimmers (32.4±14.7
years old, 175.6±0.06 cm height, and 70.4±9.8 kg
body mass) performed three bouts until exhaustion at a 400-m front crawl pace
(24 h intervals). ANOVA repeated measures compared the experimental
conditions. Swimming at 26 ℃ with swimsuit evidenced a higher
metabolic demand (total energy expenditure; (E)), comparing to
18 ℃ swimsuit (p=0.05) and with 18 ℃
wetsuit (p=0.04). The 26 ℃ swimsuit condition presented
higher peak oxygen uptake (VO2peak), blood lactate concentrations
([La-]peak), rate of perceived exertion (RPE), maximal heart rate
(HRmax), anaerobic lactic energy (AnL), E, energy cost (C),
V̇O2
amplitude (Ap), and stroke rate (SR), but lower stroke length (SL) and stroke
index (SI) than 18 ℃ wetsuit. The 18 ℃ swimsuit
condition (comparing to wetsuit) lead to higher V̇O2peak, [La-]peak, HRmax,
E, C, Ap, and SR but lower SL and SI. Swimming at aerobic power
intensity with swim and wetsuit at 18 ℃ does not induce
physiologic and biomechanical disadvantages compared to 26 ℃.
The results suggested that the use of wetsuit might increase performance at
18 ℃ water temperature for competitive master swimmers. Its use
is thus recommended in open water swimming competitions when the water
temperature is 18–20 ℃.
An Efficient Method for the Isolation of Toxins from Pteridium aquilinum and Evaluation of Ptaquiloside Against Cancer and Non-cancer Cells
Authors: Williams Courtney , Allison Simon J. , Phillips Roger M. , Linley Peter A. , Wright Colin W. 
Published: May 2021

AbstractThe common fern, bracken (Pteridium aquilinum), is well known for its toxic effects on livestock due principally to the carcinogenic constituent ptaquiloside (
1), although other toxins are present including the cyanogenic glycoside, prunasin (
2). Here, we report an improved and relatively “green” process for the isolation of
1 and
2 from fresh bracken fronds and the evaluation of
1 for cytotoxicity against several cancer cell lines. The results indicate that
1 displays selective toxicity against cancer cells relative to noncancer retinal epithelial cells, and the improved method for the isolation of
1 is expected to facilitate further exploration of its pharmacological properties.
Metabolic Bone Diseases in the Pediatric Population
Authors: Testini Valentina , Eusebi Laura , Tupputi Umberto , Carpagnano Francesca Anna , Bartelli Francesco , Guglielmi Giuseppe 
Published: May 2021

AbstractBone plays an important role in regulating mineral balance in response to physiologic needs. In addition, bone is subject to a continuous remodeling process to maintain healthy bone mass and growth. Metabolic bone diseases are a heterogeneous group of diseases caused by abnormalities of bone mass, mineral structure homeostasis, bone turnover, or bone growth. In pediatrics, several significant advances have been made in recent years in the diagnosis of metabolic bone diseases (e.g., osteogenesis imperfecta, hyperparathyroidism, rickets, renal osteodystrophy, pediatric osteoporosis, and osteopetrosis). Imaging is fundamental in the diagnosis of these pathologies.
Preoperative and Postoperative Imaging in Idiopathic Scoliosis: What the Surgeon Wants to Know
Authors: Guglielmi Riccardo , Di Chio Teresa , Kaleeta Maalu Jean-Paul , Aparisi Gómez Maria Pilar , De Leucio Alessandro , Simoni Paolo 
Published: May 2021

AbstractThe term idiopathic scoliosis covers a broad spectrum of spinal deformities in the pediatric population without an underlying congenital anomaly of the spine. Depending on the age of presentation, it has both characteristic clinical and imaging features and a different prognosis. The radiologist should provide the surgeon with critical information to assess the degree of deformity and eventually plan surgery. Thoracic deformities and lung volume must also be part of the preoperative assessment. Imaging has a critical role in postsurgical follow-up and in surgical complications. This review highlights the importance of common terminology and measurement methods to avoid incongruences. The different imaging modalities are discussed with their indications and limitations. We pay special attention to imaging modalities that can help the surgeon assess skeletal maturation reliably and thus predict the prognosis of scoliosis. Radiation protection and the risk of cumulative radiation exposure in these patients is emphasized.
TSC1 and TSC2: Tuberous Sclerosis Complex and Its Related Epilepsy Phenotype
Authors: Di Napoli Claudia , Gennaro Alessia , Lupica Carmelania , Falsaperla Raffaele , Leonardi Roberta , Garozzo Maria Teresa , Polizzi Agata , Praticò Andrea D. , Zanghì Antonio , Ruggieri Martino 
Published: May 2021

AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by a multisystemic involvement. In TSC, reduced function of TSC1 and TSC2 genes products (hamartin and tuberin, respectively) leads to an hyperactivation of the mechanistic target of rapamycin (mTOR) pathway and to a consequent cell growth dysregulation. In TSC patients, neurological and neuropsychiatric manifestations, especially epilepsy and neuropsychiatric comorbidities such as autism or intellectual disability, represent the most disabling features. In particular, epilepsy occurrs up to 80% of patients, is often drug resistant and is frequently associated with neurological impairment. Due to the burden of this morbidity, different treatment strategies have been proposed with the purpose to make patients epilepsy free, such as the use of different antiepileptic drugs like vigabatrin, carbamazepine, valproic acid, and levetiracetam. More recently, a mTOR inhibitor (i.e. everolimus) has showed promising results in terms of seizures reduction.
Fulminating Autoimmune Demyelination with Optic Neuropathy in a Case of Pediatric Cerebral Adrenoleukodystrophy: Case Report and Review of the Literature
Authors: Singhapakdi Kanya , Sharma Kamal , Maertens Paul 
Published: May 2021

AbstractX-linked adrenoleukodystrophy (ALD) is a leukodystrophy characterized not only by progressive loss of myelin in the central nervous system due to dysmyelination, but also by acute, subacute, or chronic inflammatory demyelination. This results in the phenotypic variability of cerebral ALD (cerALD), which is independent of the genotype. In this article, we reported a fulminant presentation with fluctuating encephalopathy and visual loss in a patient with childhood onset cerALD. Brain MRI showed symmetric confluent occipito-temporal demyelination with severe disruption of the blood–brain barrier and prechiasmal optic neuropathy. The patient's cerebral spinal fluid (CSF) demonstrated an elevated IgG index, myelin basic proteins, and oligoclonal bands. Within 48 hours of receiving immunomodulating therapy, the patient's symptoms of psychomotor slowing, visual impairment, and areflexia partially resolved. High plasma C26:0 levels and high ratios of C24/22 and C26/22 were diagnostic of ALD. It has been shown that environmental factors play an important role in the inflammatory demyelination responsible for the severe phenotypes of cerALD.
SYNGAP1 and Its Related Epileptic Syndromes
Authors: Garozzo Maria Teresa , Caruso Daniela , La Mendola Flavia Maria Consuelo , Di Nora Alessandra , Romano Katia , Leonardi Roberta , Falsaperla Raffaele , Zanghì Antonio , Praticò Andrea D. 
Published: May 2021

AbstractSynaptic Ras GTPase-activating protein 1 (SYNGAP1) is abundantly expressed in the postsynaptic space in brain tissue and has a crucial role in the regulation of the excitatory/inhibitory balance and in brain development. It is estimated that SYNGAP1 loss of function variants have an incidence of 1 to 4/10,000 individuals, mostly occurring de novo, even if few cases of vertical transmission of mosaic mutations have been reported. Loss-of-function mutations within this gene have been related with an epileptic encephalopathy characterized by eyelid myoclonia with absences (EMA) and myoclonic-atonic seizures (MAE) with early onset, commonly resistant to antiepileptic drugs (AED). Epilepsy is often associated with other clinical features, including truncal and/or facial hypotonia and/or ataxia with a wide-based and unsteady gate. Other clinical signs are intellectual disability, developmental delay, and behavioral and speech impairment, in a context of a normal neuroimaging study. In selected cases, dysmorphic features, skeletal abnormalities, and eye involvement are also described. The diagnosis of the disorder is usually established by multigene panel and, in unsolved cases, by exome sequencing. Management of the affected individuals involves different specialists and is mainly symptomatic. No clinical trials about the efficacy of AED in SYNGAP1 encephalopathy have been performed yet and Lamotrigine and valproate are commonly prescribed. In more than half of cases, however, epilepsy is refractory to AED.
DNM1 Gene and Its Related Epileptic Phenotypes
Authors: Motta Milena , Consentino Maria Chiara , Fontana Alessandra , Sciuto Laura , Falsaperla Raffaele , Praticò Elena R. , Salafia Stefania , Zanghì Antonio , Praticò Andrea D. 
Published: May 2021

AbstractThe phenotypic variety associated to mutations in dynamin 1 (DNM1), codifying the presynaptic protein DNM1 has been increasingly reported, mainly related to encephalopathy with intractable epilepsy; currently, it is known the phenotype related to DNM1 gene mutations is relatively homogeneous with developmental delay, hypotonia, and epilepsy characterized by infantile spasms and possible progression to Lennox-Gastaut syndrome. By examining all the papers published until 2020 (18 articles), we compared data from 30 patients (extrapolated from 5 papers) with DNM1 mutations, identifying 26 patients with de novo mutations in DNM1. Nine patients (33.3%) reported the recurrent mutation p.Arg237Trp. A usual phenotype observed comprises severe to deep developmental delay and muscular hypotonia in all patients with epilepsy beginning with infantile spasms, which often evolved into Lennox-Gastaut syndrome. Data about GTPase or central domains mutations, and existing structural modeling and functional suggest a dominant negative effect on DMN1 function. Generally genetic epilepsies consist of a wide spectrum of clinical features, unlike that, DNM1-related CNS impairment phenotype is quite uniform. In up to one third of patients it has been found variant p.Arg237Trp, which is one of the most frequent variant detected in epileptic encephalopathies. The understanding of DNM1 function opens up the chance that this gene would become a new therapeutic target for epilepsies.
Critical Illness Myopathy in a Child with SARS-CoV-2 Infection
Authors: Jiménez-Legido María , Soto-Insuga Víctor , Luján-Bonete Manuel , Cantarín-Extremera Verónica , Bernardino-Cuesta Beatriz , Mansilla-Lozano David , Leoz-Gordillo Inés , Rodríguez-Palero Serafín , Buendía-Martínez Silvia , Duat-Rodríguez Anna , Ruíz-Falcó-Rojas María Luz 
Published: May 2021

AbstractA variety of symptoms affecting the nervous system and/or skeletal muscle have been described during the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) pandemic. Though largely unexplored in children, intensive care unit-acquired weakness (ICU-AW) is associated with significant comorbidities. No previous pediatric cases of ICU-AW associated with coronavirus disease 2019 have been reported. A 12-year-old boy with SARS-CoV-2 infection developed systemic inflammatory response syndrome. Seven days later, he developed severe muscle weakness, with a creatine kinase level of 402 U/L. Nerve conduction studies and electromyography revealed a myopathic pattern. Severe pediatric cases of SARS-CoV-2 infection may develop ICU-AW. Early diagnosis and rehabilitation may decrease comorbidity and improve quality of life.