bluuebunny/crossref_metadata_2025_split huggingface dataset:
Peripheral gene interactions define interpretable clusters of core ASD genes in a network-based investigation of the omnigenic theory
Authors: Fóthi Ábel , Pintér Csaba , Pollner Péter , Lőrincz András 
Published: August 2022

AbstractAccording to the recently proposedomnigenictheory, all expressed genes in a relevant tissue are contributing directly or indirectly to the manifestation of complex disorders such as autism. Thus, holistic approaches can be complementary in studying genetics of these complex disorders to focusing on a limited number of candidate genes. Gene interaction networks can be used for holistic studies of the omnigenic nature of autism. We used Louvain clustering on tissue-specific gene interaction networks and their subgraphs exclusively containing autism-related genes to study the effects of peripheral gene interactions. We observed that the autism gene clusters are significantly weaker connected to each other and the peripheral genes in non-neuronal tissues than in brain-related tissues. The biological functions of the brain clusters correlated well with previous findings on autism, such assynaptic signaling,regulation of DNA methylation, orregulation of lymphocyte activation, however, on the other tissues they did not enrich as significantly. Furthermore, ASD subjects with disruptive mutations in specific gene clusters show phenotypical differences compared to other disruptive variants carrying ASD individuals. Our results strengthen the omnigenic theory and can advance our understanding of the genetic background of autism.
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers
Authors: Zingg Daniel , Bhin Jinhyuk , Yemelyanenko Julia , Kas Sjors M. , Rolfs Frank , Lutz Catrin , Lee Jessica K. , Klarenbeek Sjoerd , Silverman Ian M. , Annunziato Stefano , Chan Chang S. , Piersma Sander R. , Eijkman Timo , Badoux Madelon , Gogola Ewa , Siteur Bjørn , Sprengers Justin , de Klein Bim , de Goeij-de Haas Richard R. , Riedlinger Gregory M. , Ke Hua , Madison Russell , Drenth Anne Paulien , van der Burg Eline , Schut Eva , Henneman Linda , van Miltenburg Martine H. , Proost Natalie , Zhen Huiling , Wientjens Ellen , de Bruijn Roebi , de Ruiter Julian R. , Boon Ute , de Korte-Grimmerink Renske , van Gerwen Bastiaan , Féliz Luis , Abou-Alfa Ghassan K. , Ross Jeffrey S. , van de Ven Marieke , Rottenberg Sven , Cuppen Edwin , Chessex Anne Vaslin , Ali Siraj M. , Burn Timothy C. , Jimenez Connie R. , Ganesan Shridar , Wessels Lodewyk F. A. , Jonkers Jos 
Published: August 2022

AbstractSomatic hotspot mutations and structural amplifications and fusions that affect fibroblast growth factor receptor 2 (encoded by FGFR2) occur in multiple types of cancer1. However, clinical responses to FGFR inhibitors have remained variable1–9, emphasizing the need to better understand which FGFR2 alterations are oncogenic and therapeutically targetable. Here we apply transposon-based screening10,11 and tumour modelling in mice12,13, and find that the truncation of exon 18 (E18) of Fgfr2 is a potent driver mutation. Human oncogenomic datasets revealed a diverse set of FGFR2 alterations, including rearrangements, E1–E17 partial amplifications, and E18 nonsense and frameshift mutations, each causing the transcription of E18-truncated FGFR2 (FGFR2ΔE18). Functional in vitro and in vivo examination of a compendium of FGFR2ΔE18 and full-length variants pinpointed FGFR2-E18 truncation as single-driver alteration in cancer. By contrast, the oncogenic competence of FGFR2 full-length amplifications depended on a distinct landscape of cooperating driver genes. This suggests that genomic alterations that generate stable FGFR2ΔE18 variants are actionable therapeutic targets, which we confirmed in preclinical mouse and human tumour models, and in a clinical trial. We propose that cancers containing any FGFR2 variant with a truncated E18 should be considered for FGFR-targeted therapies.
BRAX, Brazilian labeled chest x-ray dataset
Authors: Reis Eduardo P. , de Paiva Joselisa P. Q. , da Silva Maria C. B. , Ribeiro Guilherme A. S. , Paiva Victor F. , Bulgarelli Lucas , Lee Henrique M. H. , Santos Paulo V. , Brito Vanessa M. , Amaral Lucas T. W. , Beraldo Gabriel L. , Haidar Filho Jorge N. , Teles Gustavo B. S. , Szarf Gilberto , Pollard Tom , Johnson Alistair E. W. , Celi Leo A. , Amaro Edson 
Published: August 2022

AbstractChest radiographs allow for the meticulous examination of a patient’s chest but demands specialized training for proper interpretation. Automated analysis of medical imaging has become increasingly accessible with the advent of machine learning (ML) algorithms. Large labeled datasets are key elements for training and validation of these ML solutions. In this paper we describe the Brazilian labeled chest x-ray dataset, BRAX: an automatically labeled dataset designed to assist researchers in the validation of ML models. The dataset contains 24,959 chest radiography studies from patients presenting to a large general Brazilian hospital. A total of 40,967 images are available in the BRAX dataset. All images have been verified by trained radiologists and de-identified to protect patient privacy. Fourteen labels were derived from free-text radiology reports written in Brazilian Portuguese using Natural Language Processing.
Proof of concept for developing novel feeds for cattle from wasted food and crop biomass to enhance agri-food system efficiency
Authors: Dou Zhengxia , Toth John D. , Pitta Dipti W. , Bender Joseph S. , Hennessy Meagan L. , Vecchiarelli Bonnie , Indugu Nagaraju , Chen Ting , Li Yunyun , Sherman Rachel , Deutsch Jonathan , Hu Bo , Shurson Gerald C. , Parsons Brianna , Baker Linda D. 
Published: August 2022

AbstractModern agri-food systems generate large amounts of crop-based biomass that are unfit for direct human consumption but potentially suitable for livestock feeding in production of meats, milk, and eggs. This study aims to develop novel feeds for cattle from some of those biomass materials through the natural microbial-driven processes of ensiling. Fruit and vegetables resembling supermarket discards were ensiled alone or co-ensiled with corn crop residues, mushroom wastes, etc. via laboratory experiments. Longitudinal sample analyses showed that (co-)ensiling was successful, with pH and fermentation acids changing rapidly into desirable ranges (pH < 4.5, the acids 5–13% DM with lactic acid dominating). The (co-)ensiled products had key nutritional parameters comparable to those of good quality forages commonly used on dairy farms. Additionally, in vitro incubation experiments indicated that the ensiled products could substitute certain conventional feeds while maintaining diet digestibility. Findings from this pilot study provide a proof of principle that quality novel feeds for cattle can be generated by co-ensiling food discards and low-value crop residues. Future research and animal feeding trials to demonstrate the utility of this approach can help societies more effectively utilize untapped biomass resources, strengthening the regenerative capacity of agri-food systems towards a more sustainable food future.
Shear characteristics and shear strength model of rock mass structural planes
Authors: Dong Shan , Peng Yulin , Lu Zhichun , Zhang Heng , Hou Weihua , Su Aijun 
Published: August 2022

AbstractAccurately determining the shear strength of structural planes is crucial for evaluating the stability of rock masses. The shear test using the sawtooth structural plane usually captures the main influencing factors of its shear characteristics. In this study, the two-dimensional particle flow code (PFC2D) numerical simulation method was used to conduct shear tests on the sawtooth structural planes of rock masses with undulant angles of 10°, 20°, and 30°, respectively. With the increase in normal stress and the undulant angle, the shear failure of the structural planes was found to no longer be pure slip failure or shear failure but accompanied by a compression-induced fracture phenomenon. Based on the analysis of the shear test results, a peak shear strength model considering different undulant angles and normal stresses was proposed, and the hyperbolic function post-peak shear strength model was improved. The peak shear strength obtained from the physical direct shear tests was compared with those calculated using the proposed model, Parton model, and Shen model. The calculation error under low and high normal stress of the proposed method was found to be within an acceptable range. Additionally, when calculating the peak shear strength of a structural plane under high normal stress, applying the calculation method proposed in this study is a better option than applying the other models. Furthermore, although the variation trend of the post-peak shear strength was similar to that of the experimental results, the values obtained using the hyperbolic variation model were too large. The variation trend of the post-peak shear strength obtained using the improved function was essentially consistent with the experimental results, and the calculated values were close to the experimental results. The systematic research on the shear strength calculation model of rock mass structural planes contributes to the theoretical research of rock mass mechanics, and this study can act as a guide for landslide prediction and control projects.
Speech-Language Pathology Assessment of School-Age Children With Traumatic Brain Injury: A Scoping Review
Authors: Riccardi Jessica S. , Crook Libby , Oskowski Madeline , Ciccia Angela 
Published: August 2022

Purpose:
The purpose of this study was to describe evidenced-based assessment practices for school-age children with any severity of traumatic brain injury (TBI) that could inform the practice of speech-language pathologists (SLPs).

Method:
A scoping review of the literature was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews guidelines. Included studies were assigned thematic labels related to the International Classification of Functioning, Disability and Health framework.

Results:

A total of 30 articles met inclusion criteria for this study. Most studies included adolescent or teenage participants with mild TBIs in the acute stages of recovery. Twenty-two different assessments were reported on for children with TBI addressing body structure/function (
n
= 19 assessments), activities and participation (
n
= 1 assessment), and contextual factors (
n
= 3 assessments).

Conclusions:
Current assessments have a clear focus on body structure/function for adolescents after childhood TBI, with little research evidence to address activities and participation or contextual factors. The limited amount of functional assessments directly related to the SLP scope of practice stresses the need for additional research on ecologically valid and comprehensive assessment approaches for school-age children with TBI. The results of this review could be utilized as a resource in providing theoretical, evidence-based, and person-centered evaluation methods for children with TBI.

Supplemental Material:

https://doi.org/10.23641/asha.20422170
Diversity, Equity, and Inclusion Initiatives of Communication Sciences and Disorder Programs Across the United States
Authors: Stewart Jessica R. , Mishra Srikanta 
Published: August 2022

Purpose:
The purpose of this pilot study is to begin exploring the diversity, equity, and inclusion (DEI) initiatives being implemented by communication sciences and disorders (CSD) programs at various universities across the United States with the intent to guide and support future research studies.

Method:
Publicly available data of DEI initiatives used by CSD programs across the United States were utilized for this study. A three-step procedure was used to explore reported initiatives. First, responses were reviewed to determine whether the reported initiatives were focusing on diversity, equity, and/or inclusion. Second, each independent initiative was reviewed, and common themes were identified. Third, the reported impact of DEI initiatives on CSD programs was explored.

Results:
This study produced four major findings related to DEI initiatives in CSD programs: (a) The majority of CSD programs included in this study reported use of DEI initiatives focusing on inclusion; (b) CSD programs included in this study reported implementation of DEI initiatives that fall into seven themes; (c) CSD programs included in this study reported DEI initiative impact on students and a reduced number of programs reported impact on faculty, staff, and the community; and (d) the DEI initiatives of CSD programs included in this study appeared to vary according to university-level factors.

Conclusions:
There is a dearth of information relating to the use of DEI initiatives being implemented by CSD programs. The results of this pilot study can be used to implement future studies and programs with the ultimate goal of improving DEI in the fields of speech-language pathology and audiology.
A hybrid assessment framework for human‐centred sustainable smart campus: A case study on COVID‐19 impact
Authors: Yip Christine , Zhang Yuchen , Lu Erwan , Dong Zhao Yang 
Published: August 2022

AbstractThe continuous development of modern information and communication technologies is driving the smart revolution in the global education system. The outbreak of the COVID‐19 pandemic has recently posed unprecedented challenges to educational institutes. The education informatisation technologies are playing a vital role to ensure the continuity and enhance the performance of education during the pandemic, which accelerates the integration of cutting‐edge technologies and thus the overall development of the smart campus. Alongside the technological advancement, the existing studies indicate that the success of smart campus development mainly depends on three key dimensions: technology capability, sustainability, and student health and well‐being. However, the state‐of‐the‐art assessment on smart campus are mostly unilaterally dependent but lack a balanced evaluation of the three dimensions. To bridge this gap, this paper proposes a hybrid assessment framework that integrates all three key aspects, aiming to provide a multi‐dimensional view of campus smartness for human‐centred sustainable development. The smart campus assessment index resulting from the proposed framework is constructed under a limiting factor formulation to jointly model the individual contributions from the three dimensions as well as their trade‐off relationship. The contribution from each dimension is the weighted normalised sum of a set of precisely selected indicators. A case study is also conducted on the historical data of a US university to investigate the effectiveness of the proposed framework and the assessment index in response to the COVID‐19 pandemic, which also demonstrates the rationality of the hybrid framework for smart campus assessment.
Risk Factors for Maternal Body Mass Index and Gestational Weight Gain in Twin Pregnancies
Authors: Schubert Julia , Timmesfeld Nina , Noever Kathrin , Behnam Susann , Vinturache Angela , Arabin Birgit 
Published: August 2022

AbstractObjective This retrospective cohort study analyzes risk factors for abnormal pre-pregnancy body mass index and abnormal gestational weight gain in twin pregnancies.Methods Data from 10 603/13 682 twin pregnancies were analyzed using uni- and multivariable logistic regression models to determine risk factors for abnormal body mass index and weight gain in pregnancy.Results Multiparity was associated with pre-existing obesity in twin pregnancies (aOR: 3.78, 95% CI: 2.71 – 5.27). Working in academic or leadership positions (aOR: 0.57, 95% CI: 0.45 – 0.72) and advanced maternal age (aOR: 0.96, 95% CI: 0.95 – 0.98) were negatively associated with maternal obesity. Advanced maternal age was associated with a lower risk for maternal underweight (aOR: 0.95, 95% CI: 0.92 – 0.99). Unexpectedly, advanced maternal age (aOR: 0.98, 95% CI: 0.96 – 0.99) and multiparity (aOR: 0.6, 95% CI: 0.41 – 0.88) were also associated with lower risks for high gestational weight gain. Pre-existing maternal underweight (aOR: 1.55, 95% CI: 1.07 – 2.24), overweight (aOR: 1.61, 95% CI: 1.39 – 1.86), obesity (aOR: 3.09, 95% CI: 2.62 – 3.65) and multiparity (aOR: 1.64, 95% CI: 1.23 – 2.18) were all associated with low weight gain. Women working as employees (aOR: 0.85, 95% CI: 0.73 – 0.98) or in academic or leadership positions were less likely to have a low gestational weight gain (aOR: 0.77, 95% CI: 0.64 – 0.93).Conclusion Risk factors for abnormal body mass index and gestational weight gain specified for twin pregnancies are relevant to identify pregnancies with increased risks for poor maternal or neonatal outcome and to improve their counselling. Only then, targeted interventional studies in twin pregnancies which are desperately needed can be performed.
Die Digitalisierung der Pneumologie und die Rolle der
Fachgesellschaften
Authors: Wollsching-Strobel Maximilian , Butt Uta , Majorski Daniel Sebastian , Mathes Tim , Stachwitz Philipp , Hagen Julia , Kroppen Doreen , Köhnlein Thomas , Windisch Wolfram , Schwarz Sarah Bettina 
Published: August 2022

Zusammenfassung
Hintergrund Medizin wird zunehmend digitalisiert. Digitale Anwendungen finden den
Weg in die Versorgung. Ziel der Studie war die Erfassung der Einstellung von Mitgliedern
der Deutschen Gesellschaft für Pneumologie und Beatmungsmedizin e.V. (DGP) zur
Digitalisierung.
Methoden Die Studie wurde in Kooperation mit der DGP, der Deutschen Atemwegsliga
e.V. sowie dem health innovation hub (hih) des Bundesministeriums für Gesundheit
durchgeführt. Die Datenerhebung erfolgte mittels Onlinefragebogen (Juli/August 2021). Die
Daten wurden deskriptiv ausgewertet und um einen Subgruppenvergleich hinsichtlich der
Proaktivität der Mitglieder ergänzt.
Ergebnisse 284 Fragebögen waren vollständig und wurden eingeschlossen (31%
weiblich). 76.4% glauben, dass die Digitalisierung innerhalb von 5 Jahren ihren
Berufsalltag verändert. 47.2% haben eine Digitale Gesundheitsanwendungen (DiGA) verordnet
bzw. haben dies vor. Am kritischsten (49.3 und 47.5%) wurden mangelnde Technikkenntnisse
von Patient:innen und der Zeitaufwand für Gesundheitsberufe bewertet. Bezüglich DiGA
wurden der wissenschaftliche Wirksamkeitsnachweis (48.9%) und die einfache Handhabbarkeit
für Patient:innen (47.9%) als wichtig bewertet. Der Subgruppenvergleich zeigt, dass sich
42.7% aktiv über digitale Medizin informieren und dass diese Gruppe mehr Möglichkeiten für
einen sinnvollen Einsatz von DiGA sieht.
Schlussfolgerung Den erwarteten umfassenden Veränderungen durch digitale Medizin
stehen die Mitglieder größtenteils positiv gegenüber. Je aktiver die Rolle der
DGP-Mitglieder und anderer Fachgesellschaften, desto mehr können digitale Elemente in der
Praxis einen Mehrwert bieten.
EUS-guided radiofrequency ablation of pancreatic/peripancreatic tumors and oligometastatic disease: an observational prospective multicenter study
Authors: Van Laethem Jean-Luc , Borbath Ivan , Figueiredo Ferreira Mariana , Garces-Duran Rodrigo , Eisendrath Pierre , Devière Jacques , Deprez Pierre , Monino Laurent 
Published: August 2022

Abstract
Background and study aims Endoscopic ultrasound-guided radiofrequency ablation (EUS-RFA) is an emerging and minimally invasive technique that seems promising for treatment of focal pancreatic and peripancreatic lesions. Our aim was to prospectively evaluate the feasibility, safety, and technical and clinical success of pancreatic and extra-pancreatic EUS-RFA.
Patients and methods We prospectively collected clinical and technical data for all patients who underwent EUS-RFA at two Belgian academic centers from June 2018 to February 2022. Feasibility, adverse events (AEs), and follow-up were also assessed.
Results Twenty-nine patients were included, accounting for 35 lesions: 10 non-functioning neuroendocrine tumors (29 %), 13 pancreatic insulinomas (37 %), one adenocarcinoma (3 %), and 11 intra-pancreatic and extra-pancreatic metastatic lesions (31 %). Technical success was achieved in 100 % of cases, with a median of three power applications per lesion (interquartile range 2). The majority of patients (59 %) presented no collateral effects, three (10.3 %) developed non-severe acute pancreatitis, and four (14 %) had mild abdominal pain. At 6 months follow-up (n = 25), 36 % of patients showed radiological complete response, 16 % presented a significant partial response and 48 % showed < 50 % decrease in diameter. At 12 months (n = 20), 30 % showed complete necrosis and 15 % > 50 % decrease in diameter. Hypoglycemia related to insulinoma was immediately corrected in all 13 cases, with no recurrence during follow-up.
Conclusions EUS-RFA is feasible, safe, and effective for treatment of pancreatic and peripancreatic tumors. Larger and longer multicenter prospective studies are warranted to establish its role in management of focal pancreatic lesions and oligometastatic disease. Symptomatic insulinoma currently represent the best indication.
Clinical Results and Quality of Life after Nonelective Cardiac Surgery in Octogenarians
Authors: Saha Shekhar , Lang Andrea , von der Linden Julia , Wassilowsky Dietmar , Peterss Sven , Pichlmaier Maximilian , Hagl Christian , Juchem Gerd , Joskowiak Dominik 
Published: August 2022

Abstract
Background We analyzed the short-term and mid-term outcomes as well as the health-related quality of life (HRQOL) of octogenarians undergoing elective and urgent cardiac surgery.
Patients and Methods We retrospectively identified 688 consecutive octogenarians who underwent cardiac surgery at our center between January 2012 and December 2019. A propensity score matching was performed which resulted in the formation of 80 matched pairs. The patients were interviewed and the Short Form-36 survey was used to assess the HRQOL of survivors. Multivariable analysis incorporated binary logistic regression using a forward stepwise (conditional) model.
Results The median age of the matched cohort was 82 years (p = 0.937), among whom, 38.8% of patients were female (p = 0.196). The median EuroSCORE II of the matched cohort was 19.4% (10.1–39.1%). The duration of postoperative mechanical ventilation was found to be independently associated with in-hospital mortality (odds ratio: 1.01 [95% confidence interval: 1.0–1.02], p = 0.038). The survival rates at 1, 2, and 5 years was 75.0, 72.0, and 46.0%, respectively. There was no difference in the total survival between the groups (p = 0.080). The physical health summary score was 41 (30–51) for the elective patients and 42 (35–49) for the nonelective octogenarians (p = 0.581). The median mental health summary scores were 56 (48–60) and 58 (52–60), respectively (p = 0.351).
Conclusion Cardiac surgery can be performed in octogenarians with good results and survivors enjoy a good quality of life; however, the indication for surgery or especially for escalation of therapy should always be made prudently, reserved, and in consideration of patient expectations.