bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel phenotype in an Italian family with a rare progranulin mutation
Authors: Russillo Maria Claudia , Sorrentino Cristiano , Scarpa Alfonso , Vinciguerra Claudia , Cicarelli Giulio , Cuoco Sofia , Gagliardi Monica , Talarico Mariagrazia , Procopio Radha , Quattrone Andrea , Barone Paolo , Pellecchia Maria Teresa 
Published: July 2022

Abstract
Introduction
Progranulin (PGRN) is a secreted glycoprotein encoded in humans by the GRN gene, located on chromosome 17q21. Several nonsense and missense pathogenetic GRN mutations have been described.

Objective
We herein describe two sisters carrying a rare GRN mutation with extremely different clinical features and family history of dementia and behavioral disorders, with a novel presentation with stridor and dysphonia.

Methods
Patients underwent a multidimensional assessment including neurological and neuropsychological evaluation, structural and functional imaging, and genetic screening.

Results
The younger sister presented at the age of 64 with inspiratory stridor, dysphonia and exercise-induced dyspnea. Transnasal fiberoptic laryngoscopy showed bilateral adduction of the vocal cords at rest and paradoxical further adduction of the vocal cords during forced inspiration, suggesting the hypothesis of an adductor laryngeal dystonia. The older sister presented at the age of 63 with a rapidly progressive corticobasal syndrome. The only clinical feature common to both sisters was a dysexecutive syndrome. The c.893G > A mutation in exon 9 of GRN was found in heterozygosis in both sisters, causing a missense Arginine to Histidine substitution in position 298 of the protein (p.R298H).

Conclusions
Our report supports the pathogenicity of the GRN p.R298H mutation, which is first detected in two members from the same family, showing an extremely different phenotypes. Moreover, we report the first case of an FTD-associated mutation presenting with inspiratory stridor and dysphonia linked to adductor laryngeal dystonia, thus expanding the clinical spectrum of GRN-related disorders.
Ex situ arterial reconstruction prior normothermic machine perfusion of liver grafts
Authors: Becker Felix , Kneifel Felicia , Riegel Arne , Katou Shadi , Wagner Tristan , Flammang Isabelle , Juratli Mazen , Vogel Thomas , Radunz Sonia , Morgul Haluk , Pascher Andreas , Houben Philipp , Brockmann Jens G. 
Published: July 2022

Abstract
Purpose
Atypical variants of the hepatic artery are common and pose a technical challenge for normothermic machine perfusion (NMP). The transplant surgeon has three options when confronted with hepatic arterial variation in a liver graft to be subjected to NMP: to perform arterial reconstruction (i) prior, (ii) during, or (iii) following NMP.

Methods
Herein, we report our experience and technical considerations with pre-NMP reconstruction. Out of 52 livers, 9 had an atypical hepatic artery (HA): 3 replaced right HA, 3 replaced left HA, 1 accessory left HA, 1 accessory left and right HA, and 1 replaced left and right HA.

Results
Reconstruction was conducted during back-table preparation. A single vascular conduit was created in all grafts to allow single arterial cannulation for NMP, necessitating only one arterial anastomosis within the recipient. All grafts were subjected to NMP and subsequently successfully transplanted.

Conclusion
Our approach is being advocated for as it preserves the ability to alter the reconstruction in case of problems resulting from the reconstruction itself, thereby allowing functional evaluation of the reconstruction prior transplantation, permitting simultaneous reperfusion in the recipient, and providing the shortest possible duration for vascular reconstruction once the graft is rewarming non-perfused within the recipient. In addition, in light of the frequency of technically demanding reconstructions with very small vessels, we consider our technique beneficial as the procedure can be performed under ideal conditions at the back-table.
Expert opinion on NSCLC small specimen biomarker testing — Part 1: Tissue collection and management
Authors: Penault-Llorca Frédérique , Kerr Keith M. , Garrido Pilar , Thunnissen Erik , Dequeker Elisabeth , Normanno Nicola , Patton Simon J. , Fairley Jenni , Kapp Joshua , de Ridder Daniëlle , Ryška Aleš , Moch Holger 
Published: July 2022

AbstractBiomarker testing is crucial for treatment selection in advanced non-small cell lung cancer (NSCLC). However, the quantity of available tissue often presents a key constraint for patients with advanced disease, where minimally invasive tissue biopsy typically returns small samples. In Part 1 of this two-part series, we summarise evidence-based recommendations relating to small sample processing for patients with NSCLC. Generally, tissue biopsy techniques that deliver the greatest quantity and quality of tissue with the least risk to the patient should be selected. Rapid on-site evaluation can help to ensure sufficient sample quality and quantity. Sample processing should be managed according to biomarker testing requirements, because tissue fixation methodology influences downstream nucleic acid, protein and morphological analyses. Accordingly, 10% neutral buffered formalin is recommended as an appropriate fixative, and the duration of fixation is recommended not to exceed 24–48 h. Tissue sparing techniques, including the ‘one biopsy per block’ approach and small sample cutting protocols, can help preserve tissue. Cytological material (formalin-fixed paraffin-embedded [FFPE] cytology blocks and non-FFPE samples such as smears and touch preparations) can be an excellent source of nucleic acid, providing either primary or supplementary patient material to complete morphological and molecular diagnoses. Considerations on biomarker testing, reporting and quality assessment are discussed in Part 2.
Different standing postures are the influencing factors for the efficacy of laminoplasty in the treatment of K-Line (−) patients with ossification of the posterior longitudinal ligament
Authors: Xue Rui , Liu Dai , Li Yao , Zhang Di 
Published: July 2022

Abstract
Objective
To investigate the relationship between different standing postures and surgical outcomes of K-Line (−) ossification of the posterior longitudinal ligament (OPLL) patients after laminoplasty with a titanium basket.

Summary of Background Data
There is a lack of data evaluating the relationship between the postoperative satisfaction of K-Line (−) patients and their standing postures.

Methods
OPLL patients enrolled in the study were divided into a K-Line (+) group (Group A) and a K-Line (− group (Group B) in natural and relaxed standing positions. We compared the postoperative outcomes after cervical laminoplasty with titanium basket surgery using the Japanese Orthopaedic Association score (JOA), recovery rate and the degree of improvement in the six JOA score items. The degree of satisfaction with the outcome was assessed at the 1-year follow-up using a 7-point numerical rating scale.

Results
A total of 34 K-Line (+) patients with OPLL (age 61.9 ± 2.9 years) in Group A and 40 K-Line (−)patients with OPLL (age 60.4 ± 3.5 years) in Group B in natural and relaxed standing positions were recruited. In Group A, the mean preoperative and postoperative JOA scores were 10.1 ± 1.4 and 13.1 ± 0.8 points, respectively, and in Group B, the mean preoperative and postoperative JOA scores were 9.7 ± 1.3 and 11.1 ± 0.9 points, respectively. A significant improvement in the JOA score was seen in both groups postoperatively, but the recovery rate of the patients’ JOA scores was significantly lower in Group B. In Group A, significant improvements were seen in all JOA score items, but in Group B, improvements were seen only in upper- and lower-extremity sensory functions.

Conclusion
Different standing postures are risk factors in the treatment of K-Line (−) patients, and therefore, natural and relaxed standing positions should be given more attention before devising the surgical plan.
Allopolyploidisation in a geological collision zone: on the origin of the tetraploid Anthemis cupaniana Nyman (Compositae, Anthemideae) in Sicily
Authors: Oberprieler Christoph , Verkhoturova Elena , Domina Gianniantonio 
Published: July 2022

AbstractThe genus Anthemis has a circum-Mediterranean distribution and comprises c. 175 annual, biennial, and perennial species with polyploid species and species complexes found in its section A. sect. Hiorthia. In Sicily, the genus is represented by 13 species, one of these being the tetraploid A. cupaniana, which is endemic to the island and is distributed throughout the limestone mountains at elevations between 500 and 1800 m a.s.l. Discordant positions in phylogenetic trees based on two plastid regions (psbA-trnH and trnC-petN) and on one nuclear marker (nrDNA ITS1 + 5.8S + ITS2) reveal that the species is of allopolyploid origin, with the maternal parent from the species group around A. cretica and the paternal one from a monophyletic group comprising mostly N African representatives around A. pedunculata. Owing to the fact that the latter group also comprises the Sicilian perennial and diploid A. ismelia and that A. cretica has been found with diploid populations in the C Sicilian Madonie Mts, these two species are considered being the most probable parental diploids of A. cupaniana. The close relationship of A. ismelia with the N African A. pedunculata group supports the biogeographical interpretation of A. cupaniana being the result of a ‘collision’ between diploids from the southern (African) and northern (Eurasian) platforms after dispersal along a Pleistocene corridor in the Sicilian channel.
Edge computing
Authors: Pérez Jorge , Díaz Jessica , Berrocal Javier , López-Viana Ramón , González-Prieto Ángel 
Published: July 2022

AbstractIoT edge computing is a new computing paradigm “in the IoT domain” for performing calculations and processing at the edge of the network, closer to the user and the source of the data. This paradigm is relatively recent, and, together with cloud and fog computing, there may be some confusion about its meaning and implications. This paper aims to help practitioners and researchers better understand what the industry thinks about what IoT edge computing is, and the expected benefits and challenges associated with this paradigm. We conducted a survey using a semi-structured in-depth questionnaire to collect qualitative data from relevant stakeholders from 29 multinational companies and qualitatively analyzed these data using the Constructivist Grounded Theory (Charmaz) method. Several researchers participated in the coding process (collaborative coding). To ensure consensus on the constructs that support the theory and thus improve the rigor of qualitative research, we conducted an intercoder agreement analysis. From the analysis, we have derived a substantive and analytic theory of what companies perceive about IoT edge computing, its benefits and challenges. The theory is substantive in that the scope of validity refers to the 29 surveys processed and analytic in that it analyzes “what is” rather than explaining causality or attempting predictive generalizations. A public repository with all the data related to the information capture process and the products resulting from the analysis of this information is publicly available. This study aims to strengthen the evidence and support practitioners in making better informed decisions about why companies are adopting edge computing and the current challenges they face. Additionally, the testing theory phase shows that the results are aligned with the ISO/IEC TR 30164 standard.
PDGFD switches on stem cell endothelial commitment
Authors: Lu Weisi , Xu Peipei , Deng Boxiong , Zhang Jianing , Zhan Ying , Lin Xianchai , Xu Xiangzhong , Xia Zhaoxia , Yang Xiaoxi , Zeng Xiaoling , Huang Lijuan , Xie Bingbing , Wang Chenghu , Wang Shasha , Kuang Haiqing , Han Xianjing , Mora Antonio , Cao Yihai , Jiang Qin , Li Xuri 
Published: July 2022

AbstractThe critical factors regulating stem cell endothelial commitment and renewal remain not well understood. Here, using loss- and gain-of-function assays together with bioinformatic analysis and multiple model systems, we show that PDGFD is an essential factor that switches on endothelial commitment of embryonic stem cells (ESCs). PDGFD genetic deletion or knockdown inhibits ESC differentiation into EC lineage and increases ESC self-renewal, and PDGFD overexpression activates ESC differentiation towards ECs. RNA sequencing reveals a critical requirement of PDGFD for the expression of vascular-differentiation related genes in ESCs. Importantly, PDGFD genetic deletion or knockdown increases ESC self-renewal and decreases blood vessel densities in both embryonic and neonatal mice and in teratomas. Mechanistically, we reveal that PDGFD fulfills this function via the MAPK/ERK pathway. Our findings provide new insight of PDGFD as a novel regulator of ESC fate determination, and suggest therapeutic implications of modulating PDGFD activity in stem cell therapy.
Predicting Housing Related Delayed Discharge from Mental Health Inpatient Units: A Case Control Study
Authors: Honey Anne , Arblaster Karen , Nguyen Jenny , Heard Robert 
Published: July 2022

AbstractThe aims of this study were to identify factors that a) predict whether people experience housing related discharge delay (HRDD) from a mental health inpatient unit; and b) predict the length of HRDD for people affected. By identifying the groups most affected by HRDD, clinicians and policy makers can prioritise and address barriers to timely discharge at both an individual and systemic level. A case control study using a detailed medical record review was conducted in one Australian mental health service. Demographic, clinical, contextual and systemic variables were collected for patients with HRDD in one calendar year (n = 55) and a random comparison sample (n = 55). Logistical and multiple regression analyses were conducted to identify variables that predict HRDD and length of HRDD. A model that correctly predicted 92% of HRDD and 78% of non-HRDD cases using five variables was developed. These variables were: diagnosis of schizophrenia or other psychotic disorder, physical comorbidity, having a history of violence or aggressive behaviour, being employed and being involved as a defendant in the justice system. The first three variables increased the likelihood of HRDD, while the second two reduced the likelihood of HRDD. For people who experienced HRDD, the only variable that predicted length of delay was staff reported difficulty finding appropriate support services. This model can be used to rapidly identify patients who might be at risk of HRDD and commence coordinated actions to secure appropriate housing and supports to facilitate timely discharge, thereby addressing a current practice gap. These findings highlight the intersection between health, housing and disability services in the lives of people with serious mental illness, and the need for a whole of government approach to investment and integration to address systemic barriers to suitable housing and supports.
Vehicle trajectory prediction on highways using bird eye view representations and deep learning
Authors: Izquierdo Rubén , Quintanar Álvaro , Llorca David Fernández , Daza Iván García , Hernández Noelia , Parra Ignacio , Sotelo Miguel Ángel 
Published: July 2022

AbstractThis work presents a novel method for predicting vehicle trajectories in highway scenarios using efficient bird’s eye view representations and convolutional neural networks. Vehicle positions, motion histories, road configuration, and vehicle interactions are easily included in the prediction model using basic visual representations. The U-net model has been selected as the prediction kernel to generate future visual representations of the scene using an image-to-image regression approach. A method has been implemented to extract vehicle positions from the generated graphical representations to achieve subpixel resolution. The method has been trained and evaluated using the PREVENTION dataset, an on-board sensor dataset. Different network configurations and scene representations have been evaluated. This study found that U-net with 6 depth levels using a linear terminal layer and a Gaussian representation of the vehicles is the best performing configuration. The use of lane markings was found to produce no improvement in prediction performance. The average prediction error is 0.47 and 0.38 meters and the final prediction error is 0.76 and 0.53 meters for longitudinal and lateral coordinates, respectively, for a predicted trajectory length of 2.0 seconds. The prediction error is up to 50% lower compared to the baseline method.
A novel tree-based representation for evolving analog circuits and its application to memristor-based pulse generation circuit
Authors: Shi Xinming , Minku Leandro L. , Yao Xin 
Published: July 2022

AbstractWhen applying evolutionary algorithms to circuit design automation, circuit representation is the first consideration. There have been several studies applying different circuit representations. However, they still have some problems, such as lack of design ability, which means the diversity of evolved circuits was limited by the circuit representation, and inefficient transformation from circuit representation into SPICE (Simulation Program with Integrated Circuit Emphasis) netlist. In this paper, a novel tree-based circuit representation for analog circuits is proposed, which is equipped with an intuitive and three-terminal devices friendly mapping rule between circuit representation and SPICE netlist, as well as a suitable crossover operator. Based on the proposed representation, a framework for automated analog circuit design using genetic programming is proposed to evolve both the circuit topology and device values. Three benchmark circuits are applied to evaluate the proposed approach, showing that the proposed method is feasible and evolves analog circuits with better fitness and number of components while using less fitness evaluations than existing approaches. Furthermore, considering physical scalability limits of conventional circuit elements and the increased interest in emerging technologies, a memristor-based pulse generation circuit is also evolved based on the proposed method. The feasibility of the evolved circuits is verified by circuit simulation successfully. The experiment results show that the evolved memristive circuit is more compact and has better energy efficiency compared with existing manually-designed circuits.
A Cartan–Hartogs version of the polydisk theorem
Authors: Mossa Roberto , Zedda Michela 
Published: July 2022

AbstractWe extend the Polydisk Theorem for symmetric bounded domains to Cartan–Hartogs domains, and apply it to prove that a Cartan–Hartogs domain inherits totally geodesic submanifolds from the bounded symmetric domain which is based on, and to give a characterization of Cartan–Hartogs’s geodesics with linear support.
Elaborating Team Roles for Artificial Intelligence-based Teammates in Human-AI Collaboration
Authors: Siemon Dominik 
Published: July 2022

AbstractThe increasing importance of artificial intelligence (AI) in everyday work also means that new insights into team collaboration must be gained. It is important to research how changes in team composition affect joint work, as previous theories and insights on teams are based on the knowledge of pure human teams. Especially, when AI-based systems act as coequal partners in collaboration scenarios, their role within the team needs to be defined. With a multi-method approach including a quantitative and a qualitative study, we constructed four team roles for AI-based teammates. In our quantitative survey based on existing team role concepts (n = 1.358), we used exploratory and confirmatory factor analysis to construct possible roles that AI-based teammates can fulfill in teams. With nine expert interviews, we discussed and further extended our initially identified team roles, to construct consistent team roles for AI-based teammates. The results show four consistent team roles: the coordinator, creator, perfectionist and doer. The new team roles including their skills and behaviors can help to better design hybrid human-AI teams and to better understand team dynamics and processes.
Einstein’s photon box revisited
Authors: Schmidt Heinz-Jürgen 
Published: July 2022

AbstractWe present a reformulation of Bohr’s analysis of Einstein’s thought experiment with the photon box, which hopefully settles some unclear issues. The box is weighed by two position measurements, the first immediately before the emission of the photon and the second after a quarter period of oscillation of the box, or alternatively after a half period. These times are precisely defined with respect to the moving clock installed in the box, but vary statistically when measured with a stationary clock outside the box, due to gravitational time dilation in accordance with Bohr’s original idea. Moreover, we will discuss two other proposals to solve the apparent inconsistency without invoking the theory of general relativity.
1,2,4-Triazine-based Materials: Spectroscopic Investigation, DFT, NBO, and TD-DFT Calculations as Well As Dye-sensitized Solar Cells Applications
Authors: Sakr Mahmoud A. S. , Kana Maram T. H. Abou 
Published: July 2022

AbstractIn this manuscript, we report four series for 1,2,4-triazine derivatives as dye-sensitized solar cells (DSSCs). Density functional theory (DFT) methods via utilizing Becke's three-parameter functional and LeeeYangeParr functional (B3LYP) level with 6-31G (d, p) basis set to investigate their modeling molecular structures. Optimized molecular structures for studied molecular structures are obtained using the DFT/B3LYP/6-31G (d, p) method. In addition, the time-dependant density functional theory (TD-DFT) is used to study the optoelectronic properties and absorption spectra using DFT/CAM-B3LYP/ 6-31G +  + (d, p) level in the Gaussian 09 program. The highest occupied molecular orbital (HOMO), lowest unoccupied molecular orbital (LUMO), energy gap (Eg), light harvest efficiency (LHE), and open-circuit voltage (Voc) of the studied molecular structures are calculated and illustrated. These properties indicate that these molecular modeling structures as good candidates for utilization in organic DSSCs.
Thermoregulating gypsums by using nanoencapsulated phase change material slurry
Authors: López Pedrajas Daniel , Borreguero Simón Ana M. , Sáenz I. Garrido , Ramos F. Javier , Rodríguez Romero Juan F. , Carmona Franco Manuel 
Published: July 2022

AbstractThermoregulating composites were produced by using a thermoregulating slurry (NPCS) containing nanoencapsulated phase change material (NPCM) from poly(styrene-co-divinylbenzene) as shell and the commercial paraffin Rubitherm®RT27 as core material. These composites were synthesized by using the constitutive water of the slurry as setting water and changing the NPCM/Hemihydrate (NPCM/Hem) mass ratio within 0.0–0.41. It was found that nanoparticles were uniformly dispersed into the gypsum, and the gypsum crystal morphology was tuned by the addition of the slurry. Attending to the thermal properties, these materials can work either as insulating or thermal energy storage materials, decreasing the thermal conductivity up to ~ 50%, whereas the thermal energy storage (TES) capacity is enlarged in a ~ 140%, respect to the pure gypsum, when the maximum NPCM/Hem mass ratio was used. This composite had a latent heat of 30.2 J g−1 and a heat capacity of equivalent 3.5 J g−1 K−1. Composites from a NPCM/Hem mass ratio up to 0.15 satisfied European mechanical standard EN 13,279–1 for gypsum binders and gypsum plasters and all of them, presented a bulk density higher than 0.60 g cm−3. The addition of a 41% in mass of nanocapsules allowed to save 13.5 kWh m−3 and, reducing the CO2 emissions up to 3.4 kg of CO2 per operating cycle. The use of this new material would lead to significant energy and economic savings, as well as a considerable reduction in the emission of polluting gases into the atmosphere.