bluuebunny/crossref_metadata_2025_split huggingface dataset:
TLS/FUS-ERG fusion gene in acute leukemia and myelodysplastic syndrome evolved to acute leukemia: report of six cases and a literature review
Authors: Zhang Heyang , Zhan Qianru , Wang Xiaoxue , Gao Feng , Yu Jinxiang , Wang Jing , Fu Wei , Wang Pingping , Wei Xin , Zhang Lijun 
Published: October 2022

AbstractTo investigate the pathogenesis and the refractory/relapse mechanisms in patients with t(16;21)(p11;q22), we retrospectively analyzed the clinical data of six cases in our hospital and sixty-two cases reported in the literature. Among the patients in our hospital, five cases were diagnosed as acute leukemia, and one was myelodysplastic syndrome evolved to acute myeloid leukemia, harboring TLS/FUS-ERG fusion gene; all the cases were detected t(16;21)(p11;q22) translocation, and five cases showed additional chromosomal abnormalities. We firstly report a novel three-way translocation t(11;16;21)(q13;p11;q22), which may affect the prognosis of leukemia with TLS-ERG fusion gene because this patient shows a more satisfactory treatment effect and deeper remission. And we found patients with TLS-ERG are more likely to have bone and arthrosis pain. Besides, CD56 and CD123 were positive in these cases, which are related to poor prognosis and the character of refractory. Moreover, some gene mutations are involved, and GATA2 and SMAD4 mutations were identified when the disease progressed from myelodysplastic syndrome to leukemia. Among sixty-two patients reported in the literature, valid positive percent of CD56 and CD123 were 81% and 14.3%, respectively. Mutation of the RUNX1 gene was detected in four cases, and one patient had multiple mutations, including BCOR, PLCG1, DIS3, BRAF, JAK2, and JAK3. The prominent feature of leukemia carrying the TLS/FUS-ERG gene is its poor prognosis. The relevant mechanism includes new mutation, jumping translocation, different transcripts, and so on. The mechanism still acquaints scarcely, which requires further study.
Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas
Authors: Goschzik Tobias , Mynarek Martin , Doerner Evelyn , Schenk Alina , Spier Isabel , Warmuth-Metz Monika , Bison Brigitte , Obrecht Denise , Struve Nina , Kortmann Rolf-Dieter , Schmid Matthias , Aretz Stefan , Rutkowski Stefan , Pietsch Torsten 
Published: October 2022

AbstractThis study aimed to re-evaluate the prognostic impact of TP53 mutations and to identify specific chromosomal aberrations as possible prognostic markers in WNT-activated medulloblastoma (WNT-MB). In a cohort of 191 patients with WNT-MBs, mutations in CTNNB1, APC, and TP53 were analyzed by DNA sequencing. Chromosomal copy-number aberrations were assessed by molecular inversion probe technology (MIP), SNP6, or 850k methylation array hybridization. Prognostic impact was evaluated in 120 patients with follow-up data from the HIT2000 medulloblastoma trial or HIT registries. CTNNB1 mutations were present in 92.2%, and APC mutations in 6.8% of samples. One CTNNB1 wild-type tumor gained WNT activation due to homozygous FBXW7 deletion. Monosomy 6 was present in 78.6%, and more frequent in children than adults. 16.1% of tumor samples showed TP53 mutations, of those 60% with nuclear positivity for the p53 protein. Loss of heterozygosity at the TP53 locus (chromosome 17p13.1) was found in 40.7% (11/27) of TP53 mutant tumor samples and in 12.6% of TP53 wild-type cases (13/103). Patients with tumors harboring TP53 mutations showed significant worse progression-free survival (PFS; 5-year-PFS 68% versus 93%, p = 0.001), and were enriched for chromosomes 17p (p = 0.001), 10, and 13 losses. Gains of OTX2 (14q22.3) occurred in 38.9% of samples and were associated with poor PFS and OS (5-year-PFS 72% versus 93%, p = 0.017 resp. 5-year-OS 83% versus 97%, p = 0.006). Multivariable Cox regression analysis for PFS/OS identified both genetic alterations as independent prognostic markers. Our data suggest that patients with WNT-MB carrying TP53 mutations or OTX2 gains (58.1%) are at higher risk of relapse. Eligibility of these patients for therapy de-escalation trials needs to be debated.
A new nomogram to predict oncological outcome in laryngeal and hypopharyngeal carcinoma patients after laryngopharyngectomy
Authors: Grasl Stefan , Frommlet Florian , Faisal Muhammad , Marijic Blazen , Schmid Elisabeth , Heiduschka Gregor , Brunner Markus , Grasl Matthaeus C. , Erovic Boban M. , Janik Stefan 
Published: October 2022

Abstract
Background
To create nomograms for better prediction of the oncological outcome in advanced laryngeal (LxCAs) or hypopharyngeal (HpxCAs) cancer after laryngopharyngectomy.

Materials
239 patients who underwent total laryngectomy or laryngopharyngectomy due to LxCA (52.7%) or HpxCA (47.3%) were included in this study. Based on clinical risk factors (tumor site, lymph node involvement, salvage setting), we created nomograms for prediction of disease-specific survival (DSS) and disease-free survival (DFS).

Results
HpxCAs showed a higher rate of lymph node involvement (p < 0.001), a 2.47-fold higher risk of a 2nd head and neck cancer (p = 0.009) and significantly worse loco-regional control rates (p = 0.003) compared to LxCAs. Positive neck nodes and salvage procedures were associated with significantly worse outcome. Nomograms demonstrated that hypopharyngeal tumors with positive neck nodes in salvage situations had the worst oncological outcome with a 5-year DSS of 15–20%.

Conclusions
The oncological outcome is worse in hypopharyngeal carcinomas and could be easily quantified by our nomograms that are based on tumor site, lymph node involvement and salvage situation.
MRI correlates of motoneuron loss in SMA
Authors: Sprenger-Svačina Alina , Haensch Johannes , Weiss Kilian , Große Hokamp Nils , Maintz David , Schlamann Marc , Fink Gereon R. , Schloss Natalie , Laukamp Kai , Wunderlich Gilbert , Lehmann Helmar C. , Lichtenstein Thorsten 
Published: October 2022

Abstract
Background
Magnetic resonance imaging (MRI) is currently explored as supplemental tool to monitor disease progression and treatment response in various neuromuscular disorders. We here assessed the utility of a multi-parametric magnetic resonance imaging (MRI) protocol including quantitative water T2 mapping, Dixon-based proton density fat fraction (PDFF) estimation and diffusion tensor imaging (DTI) to detect loss of spinal motor neurons and subsequent muscle damage in adult SMA patients.

Methods
Sixteen SMA patients and 13 age-matched controls were enrolled in this prospective, longitudinal study. All participants underwent MRI imaging including measurements of Dixon-based PDFF and DTI of the sciatic nerve. SMA patients furthermore underwent measurements of muscle water T2 (T2w) of the biceps femoris muscle (BFM) and quadriceps femoris muscle (QFM). Ten participants returned for a second scan six months later. MRI parameter were correlated with clinical data. All patients were on nusinersen treatment.

Results
There were significantly higher intramuscular fat fractions in the BFM and QFM of SMA patients compared to healthy controls at baseline and after 6 months. Furthermore, T2 values significantly correlated positively with intramuscular fat fractions. The Hammersmith functional motor scale significantly correlated with the QFM’s intramuscular fat fractions. DTI scans of the sciatic nerve were not significantly different between the two groups.

Conclusion
This study demonstrates that, water T2 mapping and Dixon-based PDFF estimation may distinguish between adult SMA patients and controls, due to massive intramuscular fat accumulation in SMA. More extensive long-term studies are warranted to further evaluate these two modalities as surrogate markers in SMA patients during treatment.
An advanced bipolar device helps reduce the rate of postoperative pancreatic fistula in laparoscopic gastrectomy for gastric cancer patients: a propensity score-matched analysis
Authors: Shibao Kazunori , Honda Shinsaku , Adachi Yasuhiro , Kohi Shiro , Kudou Yuzan , Matayoshi Nobutaka , Sato Nagahiro , Hirata Keiji 
Published: October 2022

Abstract

Background
Advanced bipolar devices (ABD; e.g., LigaSure™) have a lower blade temperature than ultrasonically activated devices (USAD; e.g., Harmonic® and Sonicision™) during activation, potentially enabling accurate lymph node dissection with less risk of postoperative pancreatic fistula (POPF) due to pancreatic thermal injury in laparoscopic gastrectomy. Therefore, we compared the efficacy and safety of ABD and USAD in laparoscopic gastrectomy for gastric cancer patients.

Methods
A retrospective cohort study was conducted on patients who underwent laparoscopic distal gastrectomy (LDG) between August 2008 and September 2020. A total of 371 patients were enrolled, and short-term surgical outcomes, including the incidence of ISGPF grades B and C POPF, were compared between ABD and USAD. The risk factors for POPF in LDG were investigated by univariate and multivariate analyses.

Results
A propensity score-matching algorithm was used to select 120 patients for each group. The POPF rate was significantly lower (0.8 vs. 9.2%, p < 0.001), the morbidity rate was lower (13.3 vs. 28.3%, p < 0.001), the length of postoperative hospitalization was shorter (14 vs. 19 days, p < 0.001), and the lymph node retrieval rate was higher (34 vs. 26, p < 0.001) with an ABD than with a USAD. There were no mortalities in either group. A multivariate analysis showed that a USAD was the only independent risk factor with a considerably high odds ratio for the occurrence of POPF (USAD/ABD, odds ratio 8.38, p = 0.0466).

Conclusion
An ABD may improve the safety of laparoscopic gastrectomy for gastric cancer patients.
Clues of wildfire-induced geotechnical changes in volcanic soils affected by post-fire slope instabilities
Authors: Peduto Dario , Iervolino Luca , Esposito Giuseppe , Foresta Vito , Matano Fabio , Masi Rocco 
Published: October 2022

AbstractWildfires can significantly affect mountain hillslopes through the combustion of trees and shrubs and changes in soil properties. The type and magnitude of the associated post-fire effects depend on several factors, including fire severity and soil physical–mechanical-hydraulic features that, coupled with climate and topographic conditions, may cause increased runoff, erosion, and slope instability as consequence of intense rainfall. The post-fire response of slopes is highly site-specific. Therefore, in situ surveys and laboratory tests are needed to quantify changes in key soil parameters. The present study documents the post-fire physical and hydromechanical properties of pyroclastic topsoil collected from three test sites that suffered wildfires and rainfall-induced post-fire events in 2019 and 2020 in the Sarno Mountains (Campania Region, southern Italy). The tested pyroclastic soils in burned conditions show (i) no significant changes in grain size distribution, soil organic matter, and specific gravity; (ii) a deterioration in shear strength in terms of decreased soil cohesion caused by the fire-induced weakening of root systems; and (iii) a decrease in hydraulic conductivity. Accordingly, it can be argued that the documented post-fire erosion responses were mainly caused by the reduced cohesion and hydraulic conductivity of the burned topsoil layer, as well as by the loss of vegetation cover and the deposition of fire residues. Although deserving further deepening, this study can represent the necessary background for understanding the initiation mechanism of post-fire erosion processes in the analyzed area and on several natural slopes under similar conditions.
The effect of selective decontamination on the intestinal microbiota as measured with IS-pro: a taxonomic classification tool applicable for direct evaluation of intestinal microbiota in clinical routine
Authors: van Doorn-Schepens M. L. M. , Abis G. S. A. , Oosterling S. J. , van Egmond M. , Poort L. , Stockmann H. B. A. C. , Bonjer H. J. , Savelkoul P. H. M. , Budding A. E. 
Published: October 2022

AbstractSelective decontamination of the digestive tract (SDD) is aimed at elimination of potential pathogenic microorganisms. In this study, the effect of SDD on gut microbiota was evaluated in a large homogenous group of elective colorectal cancer surgery patients. Rectal swabs were taken from 118 patients undergoing colorectal surgery. These patients were randomly assigned to receive perioperative SDD or to the control group (no SDD). Rectal swabs were taken prior to surgery, 3 days after commencing administration of SDD. Gut microbial profiles were obtained with the IS-pro technique, a standardized microbiota profiling assay applicable in clinical routine. Differences in abundance for different taxonomical groups and diversity between the groups were assessed. Unsupervised and supervised classification techniques were used to assess microbial signatures, differentiating between the SDD group and the control group. Patients in the SDD group had different gut microbial signatures than in the control group, also in phyla that are not a target for SDD.Escherichia coli,Sutterellaspp.,Faecalibacterium prausnitzii, andStreptococcusspp. were the species that differed the most between the two groups. The SDD group showed clustering into two subgroups. In one subgroup, a decrease in Proteobacteria was observed, whereas the other subgroup showed a shift in Proteobacteria species. This study shows that SDD not only decreases colonization of the gastrointestinal tract with potential pathogenic Gram-negative microorganisms, but also reduces the abundance of normal colonizers of our gastrointestinal system and leads to a shift in total microbiota composition.
Accelerating electric vehicle adoption: techno-economic assessment to modify existing fuel stations with fast charging infrastructure
Authors: Ghosh Nilanshu , Mothilal Bhagavathy Sivapriya , Thakur Jagruti 
Published: October 2022

AbstractWith the increasing electric vehicle (EV) penetration, there arises an immediate need for charging infrastructure. In the future, the electrification of transportation will reduce the requirement of existing fuel stations, thereby rendering them obsolete. However, they are best suited to cater to the charging demand of EVs as the drivers are accustomed to the locations and the incremental cost of providing this service will be lower. In this paper, we propose a novel methodology to assess the techno-economic feasibility of retrofitting an existing fuel station with EV charging infrastructure also known as Electric Vehicle Supply Equipment (EVSE). To further enhance the value proposition, the potential of integrating Battery Energy Storage System (BESS) with EV charging infrastructure, which results in the reduction of grid connection costs, is studied. The sustainability of the proposed system is improved with additional onsite Photovoltaic (PV) generation. The proposed methodology is implemented for the UK as a case study. The configurations in this study are designed based on the technical considerations involved in retrofitting a typical fuel station as a fast charging facility for EVs. From the results, it is observed that the configurations with 4 EVSE, 1 BESS, and 8 h of operation and the configuration with 4 EVSE, 1 BESS, and 1 PV system for 8 h of operation are economically viable. The abovementioned configurations are the most economically feasible configurations in terms of the Net Present Value (NPV), Internal Rate of Return (IRR) and the Discounted Payback Period (DPP) amongst the other configurations considered in this study. The proposed methodology indicates that though the connection cost is the dominant factor affecting the feasibility, the use of BESS with or without PV can reduce the connection cost by almost 90% depending on the capacity of BESS. The methodology acts as a decision support tool to select a techno-economically feasible configuration of EVSE, BESS, and PV.

Graphical abstract
Sieve bootstrapping the memory parameter in long-range dependent stationary functional time series
Authors: Shang Han Lin 
Published: October 2022

AbstractWe consider a sieve bootstrap procedure to quantify the estimation uncertainty of long-memory parameters in stationary functional time series. We use a semiparametric local Whittle estimator to estimate the long-memory parameter. In the local Whittle estimator, discrete Fourier transform and periodogram are constructed from the first set of principal component scores via a functional principal component analysis. The sieve bootstrap procedure uses a general vector autoregressive representation of the estimated principal component scores. It generates bootstrap replicates that adequately mimic the dependence structure of the underlying stationary process. We first compute the estimated first set of principal component scores for each bootstrap replicate and then apply the semiparametric local Whittle estimator to estimate the memory parameter. By taking quantiles of the estimated memory parameters from these bootstrap replicates, we can nonparametrically construct confidence intervals of the long-memory parameter. As measured by coverage probability differences between the empirical and nominal coverage probabilities at three levels of significance, we demonstrate the advantage of using the sieve bootstrap compared to the asymptotic confidence intervals based on normality.
A social robot-based platform for health behavior change toward prevention of childhood obesity
Authors: Triantafyllidis Andreas , Alexiadis Anastasios , Elmas Dimosthenis , Gerovasilis Georgios , Votis Konstantinos , Tzovaras Dimitrios 
Published: October 2022

AbstractChildhood obesity is a major public health challenge which is linked with the occurrence of diseases such as diabetes and cancer. The COVID-19 pandemic has forced changes to the lifestyle behaviors of children, thereby making the risk of developing obesity even greater. Novel preventive tools and approaches are required to fight childhood obesity. We present a social robot-based platform which utilizes an interactive motivational strategy in communication with children, collects self-reports through the touch of tangible objects, and processes behavioral data, aiming to: (a) screen and assess the behaviors of children in the dimensions of physical activity, diet, and education, and (b) recommend individualized goals for health behavior change. The platform was integrated through a microservice architecture within a multi-component system targeting childhood obesity prevention. The platform was evaluated in an experimental study with 30 children aged 9–12 years in a real-life school setting, showing children’s acceptance to use it, and an 80% success rate in achieving weekly personal health goals recommended by the social robot-based platform. The results provide preliminary evidence on the implementation feasibility and potential of the social robot-based platform toward the betterment of children’s health behaviors in the context of childhood obesity prevention. Further rigorous longer-term studies are required.
Learning with cone-based geometric models and orthologics
Authors: Leemhuis Mena , Özçep Özgür L. , Wolter Diedrich 
Published: October 2022

AbstractRecent approaches for knowledge-graph embeddings aim at connecting quantitative data structures used in machine learning to the qualitative structures of logics. Such embeddings are of a hybrid nature, they are data models that also exhibit conceptual structures inherent to logics. One motivation to investigate embeddings is to design conceptually adequate machine learning (ML) algorithms that learn or incorporate ontologies expressed in some logic. This paper investigates a new approach to embedding ontologies into geometric models that interpret concepts by geometrical structures based on convex cones. The ontologies are assumed to be represented in an orthologic, a logic with a full (ortho)negation. As a proof of concept this cone-based embedding was implemented within two ML algorithms for weak supervised multi-label learning. Both algorithms rely on cones but the first addresses ontologies expressed in classical propositional logic whereas the second addresses a weaker propositional logic, namely a weak orthologic that does not fulfil distributivity. The algorithms were evaluated and showed promising results that call for investigating other (sub)classes of cones and developing fine-tuned algorithms based on them.
Sim-to-real transfer and reality gap modeling in model predictive control for autonomous driving
Authors: Daza Iván García , Izquierdo Rubén , Martínez Luis Miguel , Benderius Ola , Llorca David Fernández 
Published: October 2022

AbstractThe main challenge for the adoption of autonomous driving is to ensure an adequate level of safety. Considering the almost infinite variability of possible scenarios that autonomous vehicles would have to face, the use of autonomous driving simulators is becoming of utmost importance. Simulation suites allow the used of automated validation techniques in a wide variety of scenarios, and enable the development of closed-loop validation methods, such as machine learning and reinforcement learning approaches. However, simulation tools suffer from a standing flaw in that there is a noticeable gap between the simulation conditions and real-world scenarios. Although the use of simulators powers most of the research around autonomous driving, and is generally used within all domains it is divided into, there is an inherent source of error given the stochastic nature of activities performed in real world, which are unreplicable in computer environments. This paper proposes a new approach to assess the real-to-sim gap for path tracking systems. The aim is to narrow down the sources of error between simulation results and real-world conditions, and to evaluate the performance of the simulation suite in the design process by employing the information extracted from gap analysis, which adds a new dimension of development against other approaches for autonomous driving. A real-time model predictive controller (MPC) based on adaptive potential fields was developed and validated using the CARLA simulator. Both the path planning and vehicle control systems where tested in real traffic conditions. The error between the simulator and the real data acquisition was evaluated using the Pearson correlation coefficient (PCC) and the max normalized cross-correlation (MNCC). The controller was further evaluated on a process of sim-to-real transfer, and was finally tested both in simulation and real traffic conditions. A comparison was performed against an optimal-control ILQR-based model predictive controller was carried out to further showcase the validity of this approach.
Behavioral and Socio-Emotional Disorders in Intellectual Giftedness: A Systematic Review
Authors: Tasca Ilaria , Guidi Michele , Turriziani Patrizia , Mento Giovanni , Tarantino Vincenza 
Published: October 2022

AbstractThis work systematically reviewed past literature to investigate the association between intellectual giftedness and socio-emotional and/or behavioral disorders. Nineteen studies met the inclusion criteria, 17 of which have children and/or adolescents as participants, and 12 have a non-gifted control group. Socio-emotional problems, such as withdrawal, were found in 3 out of 8 studies; internalizing disorders, such as anxiety, were found in 5 out of 9; externalizing disorders, such as hyperactivity, were found in 3 out of 5. The most investigated comorbidity was attention-deficit/hyperactivity disorder. A univocal conclusion on the relationship between intellectual giftedness and socio-emotional/behavioral problems cannot be drawn, principally because of the heterogeneity of participants’ age, informants, and instruments. The review highlights the need for future studies to use multi-informant and comprehensive assessments, to reach more robust findings, and suggests that age and discrepancy between verbal and non-verbal intellectual abilities should be considered critical factors.