bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss
Authors: Candelaria Gabriela de Toledo Passos , Antunes Alexandre de A. , Pastorino Antonio C. , Dorna Mayra de B. , Zanardo Evelin A. , Dias Alexandre T. , Sugayama Sofia M. M. , Odone-Filho Vicente , Kulikowski Leslie D. , Garanito Marlene P. 
Published: August 2021

AbstractLeukocyte adhesion deficiency-III (LAD-III) is a rare genetic disease caused by defective integrin activation in hematopoietic cells due to mutations in the FERMT3 gene. The PTPRQ gene encodes the protein tyrosine phosphatase receptor Q and is essential for the normal maturation and function of hair bundle in the cochlea. Homozygous PTPRQ mutations impair the stereocilia in hair cells which lead to nonsyndromic sensorineural hearing loss (SNHL) with vestibular dysfunction. Here, we report two novel pathogenic homozygous mutations found in two genes, FERMT3 and PTPRQ, in a Brazilian patient with LAD-III and SNHL, which may develop our understanding of the phenotype–genotype correlation and prognosis of patients with these rare diseases.
Evolution of Cavitary Lesion in a Case of COVID-19 Pneumonia: A Rare Entity
Authors: Behera Debasis , Subhankar Saswat , Venkataram Rajesh , Jagaty Suman Kumar , Rao C. M. , Behera Ruchi Rekha , Rout Pragyan 
Published: August 2021

Abstract
Introduction Toward the end of 2019, a novel coronavirus was identified as the causative organism of a cluster of pneumonia cases in Wuhan, China, spreading rapidly resulting in an epidemic throughout China, followed by a global pandemic. The initial radiological findings of coronavirus disease 2019 (COVID-19) pneumonia at the early stage on a computed tomography (CT) scan include multiple small patchy shadows and interstitial inflammation, predominantly distributed in the peripheral one-third of the lungs. Gradually, it develops into multiple ground glass opacities and infiltrates in the lungs. Furthermore, pulmonary consolidation is observed, but pleural effusion is rare.
Objective From time of presentation to complete recovery, CT scans show significant morphological changes in the lesions, but very few literatures have reported cavitary lesion in the lungs. We present the case of a 64-year-old patient with COVID-19 pneumonia who had typical manifestations of the disease on a CT scan along with constantly changing small cavity in the lung.
Discussion Delayed cavitation is a rarely described radiological manifestation of COVID-19. Atypical presentations of COVID-19 raise possibility of other infections or additional diagnoses. Bacterial and fungal infection should be excluded, as well as cavity-causing organisms. Although the proper mechanism of cavitation in COVID-19 pneumonia is not known, it may be due to intra- alveolar hemorrhage, diffuse alveolar damage, and necrosis of parenchymal cells based on findings of autopsy reports. Early and late complications associated with COVID-19 are yet to be defined.
Conclusion Common causes of cavitary lesions must be investigated properly in all patients. Most cases are self-limited hence managed conservatively. The clinical spectrum of disease due to COVID-19 continues to evolve. Physicians must be aware of evolving radiological findings of COVID-19 and must conduct regular follow-up of convalescent patients with COVID-19 to ensure complete recovery.
Topological braiding and virtual particles on the cell membrane
Authors: Liu Jinghui , Totz Jan F. , Miller Pearson W. , Hastewell Alasdair D. , Chao Yu-Chen , Dunkel Jörn , Fakhri Nikta 
Published: August 2021

Significance
Topological defects are robust particle-like structures that essentially determine the mechanics and dynamics of physical and biological matter. Examples range from vortices in quantum superfluids to the cores of spiral wave patterns in the brain. In biological systems, such defects play important roles as organizers of biochemical signaling patterns, cellular forces, and even cell death. Combining direct experimental observations with mathematical modeling and chemical perturbations, we investigated the dynamics of spiral wave defects on the surfaces of starfish egg cells. Our quantitative analysis showed that these defects exhibit complex braiding, pair creation, and annihilation dynamics, in agreement with predictions from a generic continuum theory. More broadly, these results suggest interesting parallels between information transport in living and quantum systems.
Wnt signaling recruits KIF2A to the spindle to ensure chromosome congression and alignment during mitosis
Authors: Bufe Anja , García del Arco Ana , Hennecke Magdalena , de Jaime-Soguero Anchel , Ostermaier Matthias , Lin Yu-Chih , Ciprianidis Anja , Hattemer Janina , Engel Ulrike , Beli Petra , Bastians Holger , Acebrón Sergio P. 
Published: August 2021

SignificanceWnt signaling plays essential roles in embryonic patterning, stem cell renewal, and cell cycle progression from G1 to S phase via the regulation of β-catenin target genes. Here, we show that Wnt signaling also promotes timely execution of mitosis. We demonstrate that the Wnt signaling transducer Dishevelled recruits the mitotic kinesin KIF2A and mediates its binding to the mitotic spindle. KIF2A is a microtubule depolymerase that controls chromosome alignment and congression during mitosis. Consequently, we found that inhibition of Wnt signaling leads to KIF2A-dependent chromosome congression and alignment delay in somatic and pluripotent stem cells.
The impact of one’s response to the teacher’s feedback on the same person’s and the partner’s learning in paired writing
Authors: Yamashita Taichi 
Published: August 2021

Abstract
The present study investigated the relationship between one dyad member’s revision in response to written corrective feedback (CF) and the same person’s learning and the other dyad member’s learning during collaborative writing. Twenty-eight English-as-a-Second-Language (ESL) students at an American university were paired up and collaborated on two animation description tasks in Google Docs while receiving the researcher’s written CF on their errors on the indefinite and definite articles. Learners worked individually on an animation description task one week prior to the written CF treatment (pretest), immediately after the treatment (posttest), and two weeks after (delayed posttest). When pretest score and CF frequency were controlled for, the number of one’s revisions was not related to the same person’s or the partner’s posttest score. However, the number of one’s revisions was significantly positively related to the same learner’s delayed posttest score, but not to the partner’s delayed posttest score.
HAMLET
Authors: Rigouts Terryn Ayla , Hoste Véronique , Lefever Els 
Published: August 2021

Abstract
Automatic term extraction (ATE) is an important task within natural language processing, both separately, and as a preprocessing step for other tasks. In recent years, research has moved far beyond the traditional hybrid approach where candidate terms are extracted based on part-of-speech patterns and filtered and sorted with statistical termhood and unithood measures. While there has been an explosion of different types of features and algorithms, including machine learning methodologies, some of the fundamental problems remain unsolved, such as the ambiguous nature of the concept “term”. This has been a hurdle in the creation of data for ATE, meaning that datasets for both training and testing are scarce, and system evaluations are often limited and rarely cover multiple languages and domains. The ACTER Annotated Corpora for Term Extraction Research contain manual term annotations in four domains and three languages and have been used to investigate a supervised machine learning approach for ATE, using a binary random forest classifier with multiple types of features. The resulting system (HAMLET Hybrid Adaptable Machine Learning approach to Extract Terminology) provides detailed insights into its strengths and weaknesses. It highlights a certain unpredictability as an important drawback of machine learning methodologies, but also shows how the system appears to have learnt a robust definition of terms, producing results that are state-of-the-art, and contain few errors that are not (part of) terms in any way. Both the amount and the relevance of the training data have a substantial effect on results, and by varying the training data, it appears to be possible to adapt the system to various desired outputs, e.g., different types of terms. While certain issues remain difficult – such as the extraction of rare terms and multiword terms – this study shows how supervised machine learning is a promising methodology for ATE.
Almost sure invariance principle for random dynamical systems via Gouëzel's approach
Authors: Dragičević D. , Hafouta Y 
Published: August 2021

Abstract
We extend the spectral approach of S Gouëzel for the vector-valued almost sure invariance principle (ASIP) to certain classes of non-stationary sequences with a weaker control over the behaviour of the covariance matrices, assuming only linear growth. Then we apply this extension to obtain a quenched vector-valued ASIP for random perturbations of a fixed Anosov diffeomorphism as well as random perturbations of a billiard map associated to the periodic Lorentz gas. We also consider certain classes of random piecewise expanding maps.
Enhancing magnetic pinning by BaZrO3nanorods forming coherent interface by strain-directed Ca-doping in YBa2Cu3O7−xnanocomposite films
Authors: Ogunjimi Victor , Sebastian Mary Ann , Zhang Di , Gautam Bibek , Jian Jie , Huang Jijie , Zhang Yifan , Haugan Timothy , Wang Haiyan , Wu Judy 
Published: August 2021

AbstractBaZrO3(BZO) one-dimensional artificial pinning centers (1D-APCs) aligned along thec-axis of the YBa2Cu3O7(YBCO) have been adopted to enhance the magnetic vortex pinning in BZO/YBCO nanocomposite films. However, the pinning force densityFpof the BZO 1D-APCs remains moderate at temperatures near 77 K. A hypothesis of the major limiting factor is the defective BZO 1D-APCs/YBCO interface as a direct consequence of the large interfacial strain originated from the BZO/YBCO lattice mismatch of ∼7.7%. Herein, we explore enlarging thec-axis of the YBCO dynamically to reduce the lattice mismatch and hence to prevent formation of the defective BZO 1D-APCs/YBCO interface. Specifically, thec-axis enlargement was achieved by partial replacement of Cu with Ca on the YBCO lattice using strain-directed Ca diffusion into YBCO from two Ca0.3Y0.7Ba2Cu3O7−x(CaY-123) spacers of only 10 nm in thickness inserted into the 2 vol% BZO 1D-APC/YBCO nanocomposite thin films of ∼150 nm in total thickness. The achieved elongatedc-axis is attributed to the formation of stacking faults induced by Ca-replacement of Cu on YBCO lattice. The reduced BZO/YBCO lattice mismatch allows formation of a coherent BZO 1D-APC/YBCO interface with negligible defects. This leads to an enhancedFpvalue up to 98 GN m−3at 65 K, which is 70% higher than that of the reference 2 vol% BZO 1D-APC/YBCO sample. Furthermore, the benefit of the enhanced pinning of the BZO 1D-APCs with a coherent interface with YBCO can be extended to a large angular range of the magnetic field orientation. This study reveals the significant effect of the BZO/YBCO interface on the pinning efficiency of BZO 1D-APCs and provides a promising approach to achieve a coherent interface in BZO/YBCO nanocomposite films.
Ultrafast sub-nanometer matter-wave temporal Talbot effect
Authors: García-Cabrera Ana , Hernández-García Carlos , Plaja Luis 
Published: August 2021

Abstract
The coherent manipulation of the electron wavefunction at the atomic spatial and temporal scales is the fundamental breakthrough underlying far-reaching ultrafast phenomena as high-order harmonic radiation and attosecond pulse generation. In this work, we present a next step in the coherent control of matter waves by translating the concept of Talbot interferometry to the subnanomenter–femtosecond realm. We study the high-harmonic emission from a periodic system irradiated by an intense mid-infrared laser beam at grazing incidence. Our calculations show that Bloch electrons, once ionized, follow a sequence of ultrafast (femtosecond) revivals associated with the temporal Talbot effect. We demonstrate that these revivals leave a distinct signature in the high-frequency harmonic spectrum, in the form of structures extending beyond the main spectral cutoff, toward the x-rays. The reinterpretation of the process of high-order harmonic generation as the temporal realization of a Talbot–Lau interferometer suggests high-harmonic spectroscopy as an appropriate scheme to develop subnanometer ultrafast Talbot interferometry.
Efficient laser-driven proton and bremsstrahlung generation from cluster-assembled foam targets
Authors: Prencipe Irene , Metzkes-Ng Josefine , Pazzaglia Andrea , Bernert Constantin , Dellasega David , Fedeli Luca , Formenti Arianna , Garten Marco , Kluge Thomas , Kraft Stephan , Garcia Alejandro Laso , Maffini Alessandro , Obst-Huebl Lieselotte , Rehwald Martin , Sobiella Manfred , Zeil Karl , Schramm Ulrich , Cowan Thomas E. , Passoni Matteo 
Published: August 2021

Abstract
The interaction between intense 30 fs laser pulses and foam-coated 1.5 μm-thick Al foils in the relativistic regime (up to 5 × 1020 W cm−2) is studied to optimize the laser energy conversion into laser-accelerated protons. A significant enhancement is observed for foam targets in terms of proton cut-off energy (18.5 MeV) and number of protons above 4.7 MeV (4 × 109 protons/shot) with respect to uncoated foils (9.5 MeV, 1 × 109 protons/shot), together with a sixfold increase in the bremsstrahlung yield. This enhancement is attributed to increased laser absorption and electron generation in the foam meso- and nanostructure.
Diversification within ploidy-variable Balkan endemicCerastium decalvans(Caryophyllaceae) reconstructed based on genetic, morphological and ecological evidence
Authors: Niketić Marjan , Đurović Sanja Z , Tomović Gordana , Schönswetter Peter , Frajman Božo 
Published: August 2021

AbstractThe Balkan Peninsula is a hotspot of European biodiversity, harbouring many endemic species. Cerastium decalvans is a heteroploid species endemic to mountainous areas throughout the Balkan Peninsula. It is morphologically extremely variable, and multiple infraspecific taxa have been described. Mostly tetra-, octo- and hexadecaploids have been reported, but their distribution and relationship to morphological differentiation remain unknown. To disentangle relationships among 62 populations sampled across the distribution of the species, we applied an integrative approach. Using flow cytometry, we show that tetraploids are the most widespread cytotype, whereas octoploids are limited to the south-east of the distribution area and hexadecaploids occur mostly in high mountains of the central–eastern Balkan Peninsula. The main genetic break revealed by AFLPs separates uniformly tetraploid populations from the Dinaric Mountains in the north-west of the distribution area from the south-eastern populations. Based on our data we hypothesize multiple (auto)polyploidization events leading to the origin of octoploid populations and two allopolyploidization events leading to the origin of hexadecaploids. By combining genome size, AFLP and morphological data, we suggest recognition of five subspecies, of which we here describe hexadecaploid C. decalvans subsp. doerfleri subsp. nov. endemic to the Albanian Alps. In addition, the presence of several phylogenetic lineages and multiple ploidies with pronounced morphological variability in the southern and eastern Balkan Peninsula points to pronounced environmental stability of this area throughout the Quaternary, enabling survival and divergence in situ, and further supports the role of the Balkans as a sanctuary of plant diversification.
Chemosensory Dysfunctions Induced by COVID-19 Can Persist up to 7 Months: A Study of Over 700 Healthcare Workers
Authors: Bussière Nicholas , Mei Jie , Lévesque-Boissonneault Cindy , Blais Mathieu , Carazo Sara , Gros-Louis Francois , De Serres Gaston , Dupré Nicolas , Frasnelli Johannes 
Published: August 2021

Abstract
Several studies have revealed either self-reported chemosensory alterations in large groups or objective quantified chemosensory impairments in smaller populations of patients diagnosed with COVID-19. However, due to the great variability in published results regarding COVID-19-induced chemosensory impairments and their follow-up, prognosis for chemosensory functions in patients with such complaints remains unclear. Our objective is to describe the various chemosensory alterations associated with COVID-19 and their prevalence and evolution after infection. A cross-sectional study of 704 healthcare workers with a RT–PCR-confirmed SARS-CoV-2 infection between 2020 February 28 and 2020 June 14 was conducted 3–7 months after onset of symptoms. Data were collected with an online questionnaire. Outcomes included differences in reported chemosensory self-assessment of olfactory, gustatory, and trigeminal functions across time points and Chemosensory Perception Test scores from an easy-to-use at-home self-administered chemosensory test. Among the 704 participants, 593 (84.2%) were women, the mean (SD) age was 42 (12) years, and the questionnaire was answered on average 4.8 (0.8) months after COVID-19. During COVID-19, a decrease in olfactory, gustatory, and trigeminal sensitivities was reported by 81.3%, 81.5%, and 48.0%, respectively. Three to 7 months later, reduced sensitivity was still reported by 52.0%, 41.9%, and 23.3%, respectively. Chemosensory Perception Test scores indicate that 19.5% of participants had objective olfactory impairment. These data suggest a significant proportion of COVID-19 cases have persistent chemosensory impairments at 3–7 months after their infection, but the majority of those who had completely lost their olfactory, gustatory, and trigeminal sensitivities have improved.
Innate and adaptive immunity: the understudied driving force of heart valve disease
Authors: Bartoli-Leonard Francesca , Zimmer Jonas , Aikawa Elena 
Published: August 2021

AbstractCalcific aortic valve disease (CAVD), and its clinical manifestation that is calcific aortic valve stenosis, is the leading cause for valve disease within the developed world, with no current pharmacological treatment available to delay or halt its progression. Characterized by progressive fibrotic remodelling and subsequent pathogenic mineralization of the valve leaflets, valve disease affects 2.5% of the western population, thus highlighting the need for urgent intervention. Whilst the pathobiology of valve disease is complex, involving genetic factors, lipid infiltration, and oxidative damage, the immune system is now being accepted to play a crucial role in pathogenesis and disease continuation. No longer considered a passive degenerative disease, CAVD is understood to be an active inflammatory process, involving a multitude of pro-inflammatory mechanisms, with both the adaptive and the innate immune system underpinning these complex mechanisms. Within the valve, 15% of cells evolve from haemopoietic origin, and this number greatly expands following inflammation, as macrophages, T lymphocytes, B lymphocytes, and innate immune cells infiltrate the valve, promoting further inflammation. Whether chronic immune infiltration or pathogenic clonal expansion of immune cells within the valve or a combination of the two is responsible for disease progression, it is clear that greater understanding of the immune systems role in valve disease is required to inform future treatment strategies for control of CAVD development.
Teacher Coaching: Increasing Deaf Students’ Active Engagement Through Flexible Instructional Arrangements
Authors: Catalano Jennifer , Weirick Whitney , Hasko Janna , Antia Shirin 
Published: August 2021

Abstract
The study examined the effects of a coaching intervention on teachers’ ability to implement academically responsive instruction through flexible instructional arrangements in self-contained classrooms for students who are deaf and hard of hearing, as well as the impact of instructional arrangements on students’ academic engagement. Using a changing criterion design replicated across teachers, three-teacher participants with diverse backgrounds received differentiated coaching to implement flexible instructional arrangements. Results showed that coaching had an impact on all three teachers’ implementation of flexible instructional arrangements. Concomitantly, students increased their active engagement and decreased passive engagement when they spent less time in whole class and more time in small group and child-managed arrangements. Teachers maintained the use of flexible instructional arrangements and students continued to be more actively engaged than pre-intervention. Limitations and implications for practice and research are discussed.
His-optimized cardiac resynchronization therapy in a patient with heart failure and right bundle branch block: a case report
Authors: Volkov Dmytro , Lopin Dmytro , Rybchynskyi Stanislav , Skoryi Dmytro 
Published: August 2021

Abstract

Background
Cardiac resynchronization therapy (CRT) is an option for treatment for chronic heart failure (HF) associated with left bundle branch block (LBBB). Patients with HF and right bundle branch block (RBBB) have potentially worse outcomes in comparison to LBBB. Traditional CRT in RBBB can increase mortality and HF deterioration rates over native disease progression. His bundle pacing may improve the results of CRT in those patients. Furthermore, atrioventricular node ablation (AVNA) for rate control in atrial fibrillation (AF) can be challenging in patients with previously implanted leads in His region.

Case summary
We report the case of 74-year-old gentleman with a 5-year history of HF, permanent AF with a rapid ventricular response, and RBBB. He was admitted to the hospital with complaints of severe weakness and shortness of breath. Left ventricular ejection fraction (LVEF) was decreased (41%), right ventricle (RV) was dilated (41 mm), and QRS was prolonged (200 ms) with RBBB morphology. The patient underwent His-optimized CRT with further left-sided AVNA. As a result, LVEF increased to 51%, RV dimensions decreased to 35 mm with an improvement of the clinical status during a 6-month follow-up.

Discussion
Patients with AF, RBBB, and HF represent the least evaluated clinical subgroup of individuals with less beneficial clinical outcomes according to CRT studies. Achieving the most effective resynchronization could require pacing fusion from sites beyond traditional with the intention to recruit intrinsic conduction pathways. This approach can be favourable for reducing RV dilatation, improving LVEF, and maximizing electrical resynchronization.
A case series of skin manifestations of infective endocarditis in contemporary era: just another book finding or a useful clinical sign?
Authors: Gogos Christos , Moschovidis Vasileios , Adamopoulos Chris , Trigoni Anastasia , Styliadis Ioannis , Sachpekidis Vasileios 
Published: August 2021

Abstract

Background
Infective endocarditis (IE) is a disease of high morbidity and mortality. Infective endocarditis rarely involves skin manifestations in the contemporary era. The identification of typical skin lesions could be helpful in establishing early diagnosis of IE.

Case summary
We present four cases of IE hospitalized in our institution within a 12-month period. All patients were young and had skin manifestations on initial presentation (petechiae, splinter haemorrhages, Janeway lesions, and Osler’s nodes), which led to a high clinical suspicion of IE confirmed by echocardiography and positive blood cultures. All cases had a complicated course. One patient died and the other three had prolonged hospital stay due to variable complications.

Discussion
Clinicians should always assess for skin manifestations in patients with fever especially when suspicion of IE is high. Occurrence of skin lesions in the course of IE may be associated with higher rate of complications and worse prognosis.