bluuebunny/crossref_metadata_2025_split huggingface dataset:
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role
Authors: Bisello Giovanni , Kusmierska Katarzyna , Verbeek Marcel M. , Sykut–Cegielska Jolanta , Willemsen Michèl A. A. P. , Wevers Ron A. , Szymańska Krystyna , Poznanski Jarosław , Drozak Jakub , Wertheim–Tysarowska Katarzyna , Rygiel Agnieszka Magdalena , Bertoldi Mariarita 
Published: May 2022

AbstractAromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease, often fatal in the first decade, causing severe intellectual disability, movement disorders and autonomic dysfunction. It is due to mutations in the gene coding for the AADC enzyme responsible for the synthesis of dopamine and serotonin. Using whole exome sequencing, we have identified a novel homozygous c.989C > T (p.Pro330Leu) variant of AADC causing AADC deficiency. Pro330 is part of an essential structural and functional element: the flexible catalytic loop suggested to cover the active site as a lid and properly position the catalytic residues. Our investigations provide evidence that Pro330 concurs in the achievement of an optimal catalytic competence. Through a combination of bioinformatic approaches, dynamic light scattering measurements, limited proteolysis experiments, spectroscopic and in solution analyses, we demonstrate that the substitution of Pro330 with Leu, although not determining gross conformational changes, results in an enzymatic species that is highly affected in catalysis with a decarboxylase catalytic efficiency decreased by 674- and 194-fold for the two aromatic substrates. This defect does not lead to active site structural disassembling, nor to the inability to bind the pyridoxal 5’-phosphate (PLP) cofactor. The molecular basis for the pathogenic effect of this variant is rather due to a mispositioning of the catalytically competent external aldimine intermediate, as corroborated by spectroscopic analyses and pH dependence of the kinetic parameters. Altogether, we determined the structural basis for the severity of the manifestation of AADC deficiency in this patient and discussed the rationale for a precision therapy.
Five solutions for the fractional $$\pmb {p}$$-Laplacian with noncoercive energy
Authors: Frassu Silvia , Iannizzotto Antonio 
Published: May 2022

AbstractWe deal with a Dirichlet problem driven by the degenerate fractional p-Laplacian and involving a nonlinear reaction which satisfies, among other hypotheses, a $$(p-1)$$

(
p
-
1
)

-linear growth at infinity with non-resonance above the first eigenvalue. The energy functional governing the problem is thus noncoercive. We focus on the behavior of the reaction near the origin, assuming that it has a $$(p-1)$$

(
p
-
1
)

-sublinear growth at zero, vanishes at three points, and satisfies a reverse Ambrosetti–Rabinowitz condition. Under such assumptions, by means of critical point theory and Morse theory, and using suitably truncated reactions, we show the existence of five nontrivial solutions: two positive, two negative, and one nodal.
Arthroskopische Schraubenfixation einer transversen Glenoidfraktur
Authors: Ubl Steffen Timo , Kappel Paola , Imach Sebastian , Bouillon Bertil , Wafaisade Arasch 
Published: May 2022

ZusammenfassungTransverse Glenoidfrakturen sind selten und treten meist mit Begleitverletzungen auf. Vorgestellt wird der Fall eines 50-jährigen Mannes, der eine Glenoidfraktur (Typ III nach Ideberg) als Teilverletzung des „superior shoulder suspensory complex“ erlitt. Die Schraubenfixation erfolgte arthroskopisch durch ein hohes, anteromediales Portal. Auf die übliche Anlage des Neviaser-Portals wurde verzichtet. Nach 3 Monaten konnte ein sehr gutes klinisches Ergebnis und eine Durchbauung der Glenoidfraktur beobachtet werden. Die arthroskopische Versorgung von Typ-III-Glenoidfrakturen stellt eine Alternative zu offenen Verfahren dar.
Tool wear prediction in face milling of stainless steel using singular generative adversarial network and LSTM deep learning models
Authors: Shah Milind , Vakharia Vinay , Chaudhari Rakesh , Vora Jay , Pimenov Danil Yu. , Giasin Khaled 
Published: May 2022

AbstractDuring milling operations, wear of cutting tool is inevitable; therefore, tool condition monitoring is essential. One of the difficulties in detecting the state of milling tools is that they are visually inspected, and due to this, the milling process needs to be interrupted. Intelligent monitoring systems based on accelerometers and algorithms have been developed as a part of Industry 4.0 to monitor the tool wear during milling process. In this paper, acoustic emission (AE) and vibration signals captured through sensors are analyzed and the scalograms were constructed from Morlet wavelets. The relative wavelet energy (RWE) criterion was applied to select suitable wavelet functions. Due to the availability of less experimental data to train the LSTM model for the prediction of tool wear, SinGAN was applied to generate additional scalograms and later several image quality parameters were extracted to construct feature vectors. The feature vector is used to train three long short-term memory network (LSTM) models: vanilla, stacked, and bidirectional. To analyze the performance of LSTM models for tool wear prediction, five performance parameters were computed namelyR2, adjustedR2, mean absolute error (MAE), root mean square error (RMSE), and mean square error (MSE). The lowest MAE, RMSE, and MSE values were observed as 0.005, 0.016, and 0.0002 and highR2and Adj.R2values as 0.997 are observed from the vibration signal. Results suggest that the stacked LSTM model predicts the tool wear better as compared to other LSTM models. The proposed methodology has given very less errors in tool wear predictions and can be extremely useful for the development of an online deep learning tool condition monitoring system.
Baited video, but not diver video, detects a greater contrast in the abundance of two legal-size target species between no-take and fished zones
Authors: Haberstroh Anna Julia , McLean Dianne , Holmes Thomas H. , Langlois Tim 
Published: May 2022

AbstractInherent differences between baited remote video versus diver-operated video survey methodologies may influence their ability to detect effects of fishing. Here, the ability of no-take zones (NTZs) to provide protection for legal-sized fish from targeted species within the Ningaloo Marine Park (NMP) was assessed using both baited remote underwater stereo-video (stereo-BRUV) and diver-operated stereo-video (stereo-DOV). The relative abundance of legal-sized individuals of three recreationally targeted fish species, spangled emperor Lethrinus nebulosus, chinaman cod Epinephelus rivulatus and goldspotted trevally Carangoides fulvoguttatus, were examined using both methodologies inside and outside six NTZs across the NMP. Stereo-BRUVs found positive effects of protection on the relative abundance of legal-size C. fulvoguttatus and L. nebulosus in NTZs. Stereo-DOVs, however, did not detect any differences in relative abundances and sizes of these species between areas opened and closed to fishing. These contrasting results suggest that choice of sampling methodology can influence interpretations of the ability of NTZs to provide adequate levels of protection for target species. Our results suggest that stereo-BRUVs are a superior technique to stereo-DOVs for assessing the effectiveness of no-take zones for protection of fishery target species, reflecting bait attraction and an absence of diver influence on fish behaviour.
The American Association for the Surgery of Trauma (AAST) Liver Injury Grade Does Not Equally Predict Interventions in Blunt and Penetrating Trauma
Authors: Brigode William , Adra Amal , Capron Gweniviere , Basu Anupam , Messer Thomas , Starr Frederic , Bokhari Faran 
Published: May 2022

AbstractIntroductionThe AAST liver injury grade has a validated association with mortality and need for operation. AAST liver injury grade is the same regardless of the mechanism of trauma.MethodsA 5‐year retrospective review of all liver injuries at an urban, level‐one trauma center was performed.ResultsTotally, 315 patients were included (29% blunt, 71% penetrating). In blunt trauma, AAST grade was associated with need for laparotomy (0%, 7%, 5%, 33%, 29%, Grade 1–5, p = 0.01), angiography (0%, 7%, 25%, 40%, 57%, p < 0.001), embolization (0%, 7%, 15%, 33%, 43%, p = 0.01), and percutaneous drainage procedures (13% use in Grade 4, otherwise 0%, p = 0.04), but not ERCP (0% for all grades). In penetrating trauma, AAST grade was associated with need for angiography (7%, 4%, 15%, 24%, 30%, p < 0.01) and percutaneous drainage (7%, 2%, 14%, 18%, 26%, p = 0.03) and had a marginal association with embolization (0%, 4%, 11%, 13%, 22%, p = 0.06). Laparotomy, ERCP, sphincterotomy, and stenting rates increased with AAST grade, but this was not statistically significant.ConclusionAAST grade is associated with the need for surgical hemostasis, angioembolization, and percutaneous drainage in both penetrating and blunt trauma. Operative, endoscopic, and percutaneous procedures are utilized more in penetrating trauma. Angioembolization was used more in blunt trauma. Mechanism should be considered when using AAST grade to guide management of liver injuries.
Cardiovascular risk and mortality in patients with hyperuricemia treated with febuxostat or allopurinol: a retrospective nation-wide cohort study in Austria 2014–2017
Authors: Weisshaar Stefan , Litschauer Brigitte , Reichardt Berthold , Gruber Felix , Leitner Stefan , Sibinovic Sasa , Kossmeier Michael , Wolzt Michael 
Published: May 2022

AbstractPatients with hyperuricemia and gout are at an increased risk for cardiovascular (CV) disease. Inhibition of the xanthine oxidase with allopurinol or febuxostat have become the mainstay for urate lowering therapy. However, it has been suggested that febuxostat increases the risk for CV mortality as compared to allopurinol. The aim of this retrospective cohort study was to assess the CV risk among patients with febuxostat or allopurinol therapy. Patients who initiated urate lowering therapy with febuxostat or allopurinol between 2014 and 2017 were selected from the drug reimbursement database of the Austrian health insurances funds. The primary CV endpoint was a composite of angina pectoris, nonfatal myocardial infarction, nonfatal subarachnoid or cerebral hemorrhage, nonfatal ischemic stroke, or death from any cause. In total, 28.068 patients (62.1% male) with a mean age of 71 years were included. 7.767 initiated febuxostat treatment and 20.301 received allopurinol. The incidence rate per 100 patient-years of the composite primary endpoint was 448 (febuxostat) and 356 (allopurinol) with a corresponding adjusted hazard ratio (HR) of 0.58 (95% CI 0.53–0.63) for allopurinol vs. febuxostat initiators. Similar HR were found for secondary endpoints including all-cause mortality [0.61 (95% CI 0.55–0.68)] and separate analyses of cardiac events [0.48 (95% CI 0.38–0.61)] and ischemic stroke [0.47 (95% CI 0.36–0.61)]. Data from this Austrian population-based study suggests that febuxostat initiators are at an increased risk for nonfatal CV events or death from any cause as compared to those with allopurinol. This is consistent with CV concerns of other trials, which limited the broad therapeutic use of febuxostat.
Representation of sea ice regimes in the Western Ross Sea, Antarctica, based on satellite imagery and AMPS wind data
Authors: Farooq Usama , Rack Wolfgang , McDonald Adrian , Howell Stephen 
Published: May 2022

AbstractSea ice drift data at high spatial resolution and surface wind model output are used to explore atmosphere-sea ice interactions in the Western Ross Sea including the three main polynyas areas; McMurdo Sound polynya (MSP), Terra Nova Bay polynya (TNBP), and the Ross Sea polynya (RSP). This study quantifies the relationship between the winds and sea ice drift and observes the average and annual anomalies across the region. Sea ice drift velocities are based on high-resolution (150 m) Advanced Synthetic Aperture Radar (ASAR) images from Envisat for winters between 2002 and 2012. Sea ice motion vectors were first correlated with the corresponding Antarctic Mesoscale Prediction System (AMPS) surface wind velocities, and the sensitivity of the spatial correlations and residuals were examined. Four drift parameters were selected (mean drift, the correlation between drift and wind, drift to wind scaling factor, and the directional drift constancy) to perform an unsupervised k-means classification to automatically distinguish six zones of distinctive sea ice characteristics solely based on ice drift and wind information. Results indicate a heterogeneous pattern of sea ice movement at a rate ranging from 0.41 to 2.24% of the wind speed in different areas. We also find that the directional constancy of sea ice drift is closely related to the wind fields. Sea ice drift and wind velocities display the highest correlation in free-drift areas (R = 0.70), followed by deformational drift zones (R = 0.54), and more random drift areas (R = 0.28). The classification illustrates the significance of localized wind-driven sea ice drift in this coastal area resulting in zones of convergence, shear, and free drift. The results also indicate that the most persistent patterns of sea ice motion are near the RSP and TNBP areas, both being driven by strong localized winds. Our findings identify that large-scale sea ice motion is predominantly wind-driven over much of the study area while ocean currents play only a minor role.
Distribution dependent SDEs driven by additive fractional Brownian motion
Authors: Galeati Lucio , Harang Fabian A. , Mayorcas Avi 
Published: May 2022

AbstractWe study distribution dependent stochastic differential equations with irregular, possibly distributional drift, driven by an additive fractional Brownian motion of Hurst parameter $$H\in (0,1)$$

H
∈
(
0
,
1
)

. We establish strong well-posedness under a variety of assumptions on the drift; these include the choice $$\begin{aligned} B(\cdot ,\mu )=(f*\mu )(\cdot ) + g(\cdot ), \quad f,\,g\in B^\alpha _{\infty ,\infty },\quad \alpha >1-\frac{1}{2H}, \end{aligned}$$

B

(
·
,
μ
)

=

(
f

∗
μ
)

(
·
)

+
g

(
·
)

,

f
,

g
∈

B

∞
,
∞

α

,

α
>
1
-

1

2
H

,

thus extending the results by Catellier and Gubinelli (Stochast Process Appl 126(8):2323–2366, 2016) to the distribution dependent case. The proofs rely on some novel stability estimates for singular SDEs driven by fractional Brownian motion and the use of Wasserstein distances.
DEM simulations of agglomerates impact breakage using Timoshenko beam bond model
Authors: Chen Xizhong , Wang Li Ge , Morrissey John P. , Ooi Jin Y. 
Published: May 2022

AbstractAttrition and breakage of agglomerates are prevalent during production and handling processes in many industries. Therefore, it is highly desirable to be able to model and analyse the agglomerate breakage process under various loading conditions. The ensemble strength and breakage patterns of agglomerates are still not well understood despite a significant amount of research being carried out. In this study, three-dimensional discrete element method (DEM) simulation of the impact breakage behaviour of agglomerates were performed using a Timoshenko beam bond model which considers axial, shear, twisting and bending behaviours on the bonds. An advantage of the Timoshenko beam bond model is the pertinent parameters of the bond contact have clear physical meaning and therefore could be determined through corresponding experimental characterisations. The mechanical properties of the bonds in this study were firstly calibrated using experimental measurements. The validation of the Timoshenko beam bond model was then undertaken by direct comparisons between the numerical simulation and experimental results of impact tests. It was shown that the time evolution of the agglomerate breakage process obtained from simulation had good agreement with experimental observations. Numerical results indicate that most of the damage happens at the early stage of the impact and a cone shape fracture zone is formed quickly inside the agglomerate where strong compressive stresses are concentrated. It is found that the exterior of the fracture zone is surrounded by an arch shape tensile stress which dominates the fracture propagation.
Degraded and computer-generated speech processing in a bonobo
Authors: Lahiff Nicole J. , Slocombe Katie E. , Taglialatela Jared , Dellwo Volker , Townsend Simon W. 
Published: May 2022

AbstractThe human auditory system is capable of processing human speech even in situations when it has been heavily degraded, such as during noise-vocoding, when frequency domain-based cues to phonetic content are strongly reduced. This has contributed to arguments that speech processing is highly specialized and likely a de novo evolved trait in humans. Previous comparative research has demonstrated that a language competent chimpanzee was also capable of recognizing degraded speech, and therefore that the mechanisms underlying speech processing may not be uniquely human. However, to form a robust reconstruction of the evolutionary origins of speech processing, additional data from other closely related ape species is needed. Specifically, such data can help disentangle whether these capabilities evolved independently in humans and chimpanzees, or if they were inherited from our last common ancestor. Here we provide evidence of processing of highly varied (degraded and computer-generated) speech in a language competent bonobo, Kanzi. We took advantage of Kanzi’s existing proficiency with touchscreens and his ability to report his understanding of human speech through interacting with arbitrary symbols called lexigrams. Specifically, we asked Kanzi to recognise both human (natural) and computer-generated forms of 40 highly familiar words that had been degraded (noise-vocoded and sinusoidal forms) using a match-to-sample paradigm. Results suggest that—apart from noise-vocoded computer-generated speech—Kanzi recognised both natural and computer-generated voices that had been degraded, at rates significantly above chance. Kanzi performed better with all forms of natural voice speech compared to computer-generated speech. This work provides additional support for the hypothesis that the processing apparatus necessary to deal with highly variable speech, including for the first time in nonhuman animals, computer-generated speech, may be at least as old as the last common ancestor we share with bonobos and chimpanzees.
Gemeinschaftsdiagnose: Ohne russisches Gas droht eine scharfe Rezession in Deutschland
Authors: Gornig Martin , Holtemöller Oliver , Kooths Stefan , Schmidt Torsten , Wollmershäuser Timo 
Published: May 2022

ZusammenfassungDie deutsche Wirtschaft steuert durch schwieriges Fahrwasser. Die Auftriebskräfte durch den Wegfall der Pandemiebeschränkungen, die Nachwehen der Coronakrise und die Schockwellen durch den Krieg in der Ukraine sorgen für gegenläufige konjunkturelle Strömungen. Allen Einflüssen gemeinsam ist ihre preistreibende Wirkung.
Neuer Nachholfaktor der Rentenversicherung im Geflecht von Schutz- und Niveauschutzklausel
Authors: Schätzlein Uwe 
Published: May 2022

ZusammenfassungIm Zuge der Einführung der Niveauschutzklausel in der gesetzlichen Rentenversicherung hat man den Nachholfaktor außer Kraft gesetzt. Um diese unbefriedigende Situation zu beenden, hat das Bundesministerium für Arbeit und Soziales nun einen Referentenentwurf vorgelegt, der darlegt, wie man sich vorstellt, den Nachholfaktor zur Rentenanpassung 2022 wiedereinzuführen. Die Wiedereinführung ist ein guter Schritt. In Anbetracht des Zusammenspiels mit der Niveauschutzklausel ist der Entwurf jedoch noch nicht ausgereift. Darüber hinaus hat man eine Lock-in-Klausel eingebaut, die eine große Last darstellt. Sie wirft ein neues Problem auf, dessen Ausmaß ähnlich groß ist wie das des ausgesetzten Nachholfaktors, das man mit dem vorliegenden Referentenentwurf zu lösen gedenkt.
Mean-semivariance portfolio optimization using minimum average partial
Authors: Rigamonti Andrea , Lučivjanská Katarína 
Published: May 2022

AbstractMean-semivariance and minimum semivariance portfolios are a preferable alternative to mean-variance and minimum variance portfolios whenever the asset returns are not symmetrically distributed. However, similarly to other portfolios based on downside risk measures, they are particularly affected by parameter uncertainty because the estimates of the necessary inputs are less reliable than the estimates of the full covariance matrix. We address this problem by performing PCA using Minimum Average Partial on the downside correlation matrix in order to reduce the dimension of the problem and, with it, the estimation errors. We apply our strategy to various datasets and show that it greatly improves the performance of mean-semivariance optimization, largely closing the gap in out-of-sample performance with the strategies based on the covariance matrix.
Heavy metals in soils of Mayabeque, Cuba: multifaceted and hardly discernable contributions from pedogenic and anthropogenic sources
Authors: Sosa Dayana , Hilber Isabel , Buerge-Weirich Diane , Faure Roberto , Escobar Arturo , Bucheli Thomas D. 
Published: May 2022

AbstractCuba is a country with considerable potential for economic growth, and special efforts are made to increase the agricultural output. As food production depends on the quality of soils, heavy metal concentrations were measured in 39 soils in the province of Mayabeque, Cuba, and interpreted in light of anthropogenic activities and pedogenic conditions (soil type and properties). With median concentrations of 1.8 Cd, 60.3 Cr, 48.1 Cu, 36.2 Ni, 16.7 Pb, 55.0 Zn, and 0.1 mg/kg Hg, soils of Mayabeque were mostly below Cuban quality reference values (QRV) representing benchmarks of quality standards but no official threshold values. Only Cd concentrations were in many cases above the QRV of 0.6 mg/kg and some Cu concentrations above the one of 83 mg/kg. While Cd, Cr, and Ni concentrations were rather pedogenically driven, Cu, Pb, Zn, and Hg contents were rather anthropogenically influenced. When evaluated statistically, Cd and Cr showed most times a significant influence of both sources. In contrast, Ni and Zn could not be significantly related with the origins investigated in this study. Hence, the allocation of heavy metal concentrations to pedogenic or anthropogenic contamination or pollution sources is tentative and needs further investigations. Nevertheless, the present data adds information on soil heavy metal concentrations in the Caribbean region, serves as reference before further industrial development, and sets the ground for adaptation of the QRV for Cd and possibly future national environmental standards.