bluuebunny/crossref_metadata_2025_split huggingface dataset:
The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
Authors: Colbert Brett M. , Lanting Cris , Smeal Molly , Blanton Susan , Dykxhoorn Derek M. , Tang Pei-Ciao , Getchell Richard L. , Velde Hedwig , Fehrmann Mirthe , Thorpe Ryan , Chapagain Prem , Elkhaligy Heidy , Kremer Hannie , Yntema Helger , Haer-Wigman Lonneke , Redfield Shelby , Sun Tieqi , Bruijn Saskia , Plomp Astrid , Goderie Thadé , van de Kamp Jiddeke , Free Rolien H. , Wassink-Ruiter Jolien Klein , Widdershoven Josine , Vanhoutte Els , Rotteveel Liselotte , Kriek Marjolein , van Dooren Marieke , Hoefsloot Lies , de Gier Heriette H. W. ,   DOOFNL Consortium, van Dooren M. F. , Kant S. G. , de Gier H. H. W. , Hoefsloot E. H. , van der Schroeff M. P. , Rotteveel L. J. C. , Ropers F. G. , Kriek M. , Aten E. , Widdershoven J. C. C. , Hof J. R. , Hellingman K. , Vernimmen V. , Kremer H. , Pennings R. J. E. , Feenstra I. , Lanting C. P. , Yntema H. G. , Cals F. L. J. , Haer-Wigman L. , Free R. H. , Wassink-Ruiter J. S. Klein , Smit A. L. , van den Boogaard M. J. , Lachmeier A. M. A. , Smits J. J. , Ebbens F. A. , Maas S. M. , Plomp A. , Goderie T. P. M. , Merkus P. , van de Kamp J. , Schaefer Amanda , Kolbe Diana , Azaiez Hela , Rabie Grace , Aburayyan Armal , Kawas Mariana , Kanaan Moien , Holder Jourdan , Usami Shin-ichi , Chen Zhengyi , Dai Pu , Holt Jeffrey , Nelson Rick , Choi Byung Yoon , Shearer Eliot , Smith Richard J. H. , Pennings Ronald , Liu Xue Zhong 
Published: May 2024

AbstractTMPRSS3-related hearing loss presents challenges in correlating genotypic variants with clinical phenotypes due to the small sample sizes of previous studies. We conducted a cross-sectional genomics study coupled with retrospective clinical phenotype analysis on 127 individuals. These individuals were from 16 academic medical centers across 6 countries. Key findings revealed 47 unique TMPRSS3 variants with significant differences in hearing thresholds between those with missense variants versus those with loss-of-function genotypes. The hearing loss progression rate for the DFNB8 subtype was 0.3 dB/year. Post-cochlear implantation, an average word recognition score of 76% was observed. Of the 51 individuals with two missense variants, 10 had DFNB10 with profound hearing loss. These 10 all had at least one of 4 TMPRSS3 variants predicted by computational modeling to be damaging to TMPRSS3 structure and function. To our knowledge, this is the largest study of TMPRSS3 genotype–phenotype correlations. We find significant differences in hearing thresholds, hearing loss progression, and age of presentation, by TMPRSS3 genotype and protein domain affected. Most individuals with TMPRSS3 variants perform well on speech recognition tests after cochlear implant, however increased age at implant is associated with worse outcomes. These findings provide insight for genetic counseling and the on-going design of novel therapeutic approaches.
Finitary Affine Oriented Matroids
Authors: Delucchi Emanuele , Knauer Kolja 
Published: May 2024

AbstractWe initiate the axiomatic study of affine oriented matroids (AOMs) on arbitrary ground sets, obtaining fundamental notions such as minors, reorientations and a natural embedding into the frame work of Complexes of Oriented Matroids. The restriction to the finitary case (FAOMs) allows us to study tope graphs and covector posets, as well as to view FAOMs as oriented finitary semimatroids. We show shellability of FAOMs and single out the FAOMs that are affinely homeomorphic to $$\mathbb {R}^n$$

R

n

. Finally, we study group actions on AOMs, whose quotients in the case of FAOMs are a stepping stone towards a general theory of affine and toric pseudoarrangements. Our results include applications of the multiplicity Tutte polynomial of group actions of semimatroids, generalizing enumerative properties of toric arrangements to a combinatorially defined class of arrangements of submanifolds. This answers partially a question by Ehrenborg and Readdy.
The experience of surgical cancer patients during the COVID-19 pandemic at a large cancer centre in London
Authors: Russell Beth , Hadi Hajer , Moss Charlotte L. , Green Saran , Haire Anna , Wylie Harriet , Handford Jasmine , Monroy-Iglesias Maria , Dickinson Harvey , Haire Kate , Van Hemelrijck Mieke 
Published: May 2024

Abstract
Background
The COVID-19 pandemic has had an enormous impact on the experiences of patients across all health disciplines, especially those of cancer patients. The study aimed to understand the experiences of cancer patients who underwent surgery during the first two waves of the pandemic at Guy’s Cancer Centre, which is a large tertiary cancer centre in London.

Methods
A mixed-methods approach was adopted for this study. Firstly, a survey was co-designed by the research team and a patient study group. Patients who underwent surgery during the COVID-19 pandemic were invited to take part in this survey. Results were analysed descriptively. Three discussion groups were then conducted to focus on the main themes from the survey findings: communication, COVID-19 risk management and overall experience. These discussion groups were transcribed verbatim and underwent a thematic analysis using the NVivo software package.

Results
Out of 1657 patients invited, a total of 250 (15%) participants took part in the survey with a mean age of 66 (SD 12.8) and 52% females. The sample was representative of a wide range of tumour sites and was reflective of those invited to take part. Overall, the experience of the cancer patients was positive. They felt that the safety protocols implemented at the hospital were effective. Communication was considered key, and patients were receptive to a change in the mode of communication from in-person to virtual.

Conclusions
Despite the immense challenges faced by our Cancer Centre, patients undergoing surgery during the first two waves of the COVID-19 pandemic had a generally positive experience with minimal disruptions to their planned surgery and ongoing care. Together with the COVID-19 safety precautions, effective communication between the clinical teams and the patients helped the overall patient experience during their surgical treatment.
Primary arthrodesis for diabetic ankle fractures using a modified retrograde femoral intramedullary locking nail combined with lateral plating, surgical technique, and early results of a pilot study
Authors: Fadle Amr A. , El-Adly Wael , Fekry Momen Ayman , Osman Ahmed E. , Khalifa Ahmed A. 
Published: May 2024

Abstract
Purpose
We aimed to report the early results of performing acute ankle arthrodesis using a modified retrograde femoral intramedullary locking IMN concomitant with plating at the same setting for managing diabetic patients' acute ankle fractures.

Methods
We prospectively included patients who presented acutely with ankle fractures, where hemoglobin A1C (HbA1C) on admission was > 7%, and the Adelaide Fracture in the Diabetic Ankle (AFDA) algorithm score was 5 or above. All patients were treated by acute ankle arthrodesis using a modified retrograde femoral IMN combined with lateral plating. Functional assessment was reported according to a modified American Orthopaedic Foot and Ankle Society ankle hindfoot scale (AOFAS), and complications were documented.

Results
Six patients had an average age of 55.7 years (37–65). The average HbA1C on admission was 7.9 (7.3–9), and the average AFDA score was 7.3 (6–8). The average operative time was 79.2 min (70–90). All patients, except for one, achieved union at the arthrodesis site after an average of 10.3 weeks (8–14). After an average last follow-up of 9 months (6–12), the average modified AOFAS was 73.2 (82 to 62); four patients had an excellent score and one good. Complications developed in two, one deep infection after 2 weeks treated by metal removal and Ilizarov, and the other patient developed a stress fracture at the tibial end of the nail, which was treated by open reduction and internal fixation using a plate and screws.

Conclusion
Using a modified femoral IMN combined with lateral plating is a promising technique to achieve ankle arthrodesis in diabetic patients with acute ankle fractures with acceptable outcomes; however, further studies with larger numbers are needed.
Level of evidence: IV
Periodontal grading—estimation of responsiveness to therapy and progression of disease
Authors: Bumm Caspar Victor , Ern Christina , Folwaczny Julia , Wölfle Uta Christine , Heck Katrin , Werner Nils , Folwaczny Matthias 
Published: May 2024

Abstract
Objective
To investigate the capability of periodontal grading to estimate the progression of periodontal disease and the responsiveness to therapy.

Materials and methods
Eighty-four patients who underwent non-surgical therapy (NST) were included. Direct and indirect evidence of progression were determined according to the current classification. Responsiveness to therapy was examined using mean pocket probing depths reduction (PPDRed), reduction of bleeding on probing (BOPRed), and the rate of pocket closure (%PC) after six months.

Results
Statistical analysis revealed no agreement between direct and indirect evidence in grading periodontitis (κ = 0.070). The actual rate of progression as determined by longitudinal data was underestimated in 13% (n = 11), overestimated in 51% (n = 43) and correctly estimated in 30% (n = 36) by indirect evidence. No significant differences in responsiveness to therapy were observed in patients graded according to direct evidence. Using indirect evidence, patients assigned grade C showed more PPDRed but less BOPRed and lower %PC compared to grade B.

Conclusion
The present data indicate that indirect evidence may lead to inaccuracies compared to direct evidence regarding the estimation of periodontal progression. However, indirect evidence seems to be more suitable in the estimation of responsiveness to therapy than direct evidence, helping to identify cases that are more likely to require additional therapies such as re-instrumentation or periodontal surgery.

Clinical relevance
Regarding the estimation of disease progression and responsiveness to periodontal therapy, accuracy and reliability of both direct and indirect evidence are limited when grading periodontitis.
PublicVR: a virtual reality exposure therapy intervention for adults with speech anxiety
Authors: Spyridonis Fotios , Daylamani-Zad Damon , Nightingale James 
Published: May 2024

AbstractSpeech anxiety, or Glossophobia, currently affects approximately 75% of the population with potentially severe negative effects on those with this condition. There are several treatments currently available with research showing that the use of Virtual Reality (VR) as a non-pharmacologic treatment can have positive effects on individuals suffering from such social phobias. However, there is a significant lack of treatments currently available for speech anxiety, even though such a large number of the population are affected by it. In this paper, we aim to contribute to efforts to improve the effects of speech anxiety through a VR intervention. Our VR solution was designed following the Exposure Therapy approach for treating social anxiety disorders. The evaluation of this work was twofold: A. to assess the ability of our solution to positively change participants’ perception of factors related to non-verbal communication contributing to anxiety toward public speaking, and B. to determine whether it is able to induce a sense of presence. We carried out an empirical evaluation study that measured participants’ self-reported anxiety level towards public speaking using the Personal Report of Public Speaking Anxiety and their perceived sense of presence using the iGroup Presence Questionnaire. Our results demonstrate the potential of VR Exposure Therapy solutions to assist towards positively changing perception of factors related to non-verbal communication skills that contribute to increasing public speaking anxiety for participants suffering from self-reported speech anxiety symptoms. Our findings are of wider importance as they contribute to ongoing efforts to improve social anxiety-related phobias.
Improving waste management strategies in the food sector: case studies from Spain, Tunisia and Hong Kong
Authors: Garcia-Garcia Guillermo , Parra-López Carlos , Siddiqui Muhammad Ahmar , Lin Carol Sze Ki , Maalej Hana , Njeh Fatma , Galve Emilio , Ghrab Soufiène , Belhassen Soufiène , Hassoun Abdo , Rojas-Serrano Fátima , Rodríguez-Pleguezuelo Carmen Rocío , Sayadi Samir 
Published: May 2024

AbstractAppropriate waste generation and management is becoming increasingly important in making food systems more sustainable. It is, therefore, imperative to both reduce waste generation and sustainably manage the waste that cannot be reduced. However, this is challenging due to the heterogeneity of waste materials, the high economic costs of optimizing food systems and the low awareness of the issue in some societies. This article analyzes three case studies that explore improvements in waste management in the food sector in Europe, Africa and Asia. The case studies focus on a horticultural cooperative in Spain, a seafood company in Tunisia and municipal waste management in Hong Kong, highlighting different challenges and approaches. Key factors for horticultural waste management include a consistent regulatory framework, appropriate management systems and waste traceability. The article also highlights the potential for valorisation of waste products, such as blue crab by-products, which can be used to obtain polysaccharides, proteins, lipids, antioxidants, flavonoids, vitamins and minerals. A shift from landfill to anaerobic digestion is also recommended for a more sustainable waste management. By identifying and quantifying waste streams and problematic waste types, alternative solutions can be developed to improve the sustainability of the global food supply chain.
Observed seismic performance of buildings and bridges during a major earthquake followed by one other major earthquake in the close vicinity of the first one
Authors: Caner Alp , Cinar Melike , Ates Ahmet Derya 
Published: May 2024

AbstractIn the recent 2023 major earthquake triggering one other large earthquake in Anatolia, the poor structural performance of buildings and the satisfactory performance of bridges remained relatively consistent compared to past observed earthquake experiences. Despite numerous building collapses, it is worth noting that no bridges collapsed during the event. Several engineering factors for poor building performance have been identified based on field building inspections in the recent and past earthquakes, such as the misuse of building design software without proper engineering judgment, the utilization of poor-quality construction materials, underestimation of earthquake forces, construction on inadequate soil conditions, design mistakes, and incorrect implementation of high ductility reinforcement details. In the aftermath of the earthquake, it was found that only a small percentage of bridges (1%) were closed, and approximately 50% of them were reopened to traffic within 24 h. Remarkably, no bridge collapses including the modern or old bridges were reported in the affected area. The focus of this paper is to identify the differences in the design philosophy between buildings and bridges and to understand the reasons behind the bridges’ resilience during these rare earthquakes. The study involves analyzing past structural performances of buildings and bridges under different earthquake conditions and design requirements. Analytical results from a survived 90-year-old reinforced concrete arch railroad bridge, highlighting its resilience and design characteristics are also presented.
Seismic hazard zonation map and definition of seismic actions for Greece in the context of the ongoing revision of EC8
Authors: Pitilakis Kyriazis , Riga Evi , Apostolaki Stefania , Danciu Laurentiu 
Published: May 2024

AbstractThe Greek National Annex for current Eurocode 8 has adopted the seismic hazard zonation map published in 2003 as part of the modifications to the Greek Seismic Code EAK 2000 (EAK 2003). This map, which followed the catastrophic earthquakes that hit the country between 1978 and 2001, includes three seismic hazard zones with peak ground acceleration (PGA) ranging between 0.16 and 0.36 g. In this paper, following the significant progress that has been made worldwide in the last two decades towards the improvement of the definition of seismic actions and the seismic hazard maps using fully probabilistic models, we make a complete proposal for the Greek National Annex of the ongoing revision of Eurocode 8, which includes a new seismic hazard zonation map for Greece, as well as a novel site categorization scheme and related site amplification factors. To this end, we use the results of the European Seismic Hazard Model, ESHM20, as reported by Danciu et al. (The 2020 update of the European Seismic Hazard Model: Model Overview, 2021) which will be adopted as informative reference for the seismic hazard at European level in the forthcoming revision of Eurocode 8 (CEN/EC8). The herein proposed ground shaking zonation for rock conditions includes five zones with PGA values ranging between 0.13 and 0.37 g. For each zone, two newly proposed ground motion parameters, i.e., Sα,475 and Sβ,475, are provided, which are the two parameters used for anchoring the elastic response spectrum as defined in CEN/EC8, along with all the other necessary parameters for the definition of the elastic response spectrum, including site amplification. The proposal for the new seismic zonation is supported by a preliminary investigation of the impact of its adoption on the seismic design of new structures and on the seismic risk of the current building stock in Greece, to help gain a better insight on how important the differences imposed by the new zonation might be for the end-users and the administration.
Does intraspecific variation in Trissolcus japonicus affect its response to non-target hosts?
Authors: Häner Nina , Fenijn Fleur , Haye Tim 
Published: May 2024

AbstractHost specificity is a key criterion for the implementation of any biological control program. In parasitoid wasps, host specificity is mediated by their response to chemical cues directly and indirectly associated with their hosts during foraging. Although intraspecific variation in foraging behaviour is documented, it is rarely integrated into risk assessment studies of potential biological control agents, as is the case for Trissolcus japonicus (Ashmead) (Hymenoptera: Scelionidae), an Asian egg parasitoid and biological control agent of the invasive Halyomorpha halys (Stål) (Hemiptera: Pentatomidae). In the present study, we compared the behavioural response of T. japonicus females of an adventive line present in Switzerland and an Asian line (Beijing USDA), recently mass released in Italy, to cues of its target host H. halys and non-target host Pentatoma rufipes (L.) (Hemiptera: Pentatomidae). We observed minimal differences in host acceptance, exploitation and suitability in no-choice tests. In contrast, the behavioural response to host contact kairomones left on leaf substrates significantly differed between the two lines. While both lines preferred chemical footprints of H. halys in comparison to P. rufipes, females of the Beijing USDA line responded more strongly to host kairomones. The observed intraspecific variation in behavioural traits highlights the relevance of considering genetically distinct parasitoid lines and their host foraging behaviour in biological risk assessment studies. However, the implications of intraspecific variation in parasitoid foraging behaviour for biological control of a pest and non-target effects in the field remain challenging to predict.
Circulating microRNAs and therapy-associated cardiac events in HER2-positive breast cancer patients: an exploratory analysis from NeoALTTO
Authors: Pizzamiglio S. , Ciniselli C. M. , de Azambuja E. , Agbor-tarh D. , Moreno-Aspitia A. , Suter T. M. , Trama A. , De Santis M. C. , De Cecco L. , Iorio M. V. , Silvestri M. , Pruneri G. , Verderio P. , Di Cosimo S. 
Published: May 2024

Abstract
Purpose
The relevance of cardiotoxicity in the context of HER2-positive breast cancer is likely to increase with increasing patient treatment exposure, number of treatment lines, and prolonged survival. Circulating biomarkers to early identify patients at risk of cardiotoxicity could allow personalized treatment and follow-up measures. The aim of this study is to examine the relationship between circulating microRNAs and adverse cardiac events in HER2-positive breast cancer patients.

Methods
We based our work on plasma samples from NeoALTTO trial obtained at baseline, after 2 weeks of anti-HER2 therapy, and immediately before surgery. Eleven patients experienced either a symptomatic or asymptomatic cardiac event. Circulating microRNAs were profiled in all patients presenting a cardiac event (case) and in an equal number of matched patients free of reported cardiac events (controls) using microRNA-Ready-to-Use PCR (Human panel I + II). Sensitivity analyses were performed by increasing the number of controls to 1:2 and 1:3. Normalized microRNA expression levels were compared between cases and controls using the non-parametric Kruskal–Wallis test.

Results
Eight circulating microRNAs resulted differentially expressed after 2 weeks of anti-HER2 therapy between patients experiencing or not a cardiac event. Specifically, the expression of miR-125b-5p, miR-409-3p, miR-15a-5p, miR-423-5p, miR-148a-3p, miR-99a-5p, and miR-320b increased in plasma of cases as compared to controls, while the expression of miR-642a-5p decreases. Functional enrichment analysis revealed that all these microRNAs were involved in cardiomyocyte adrenergic signaling pathway.

Conclusion
This study provides proof of concept that circulating microRNAs tested soon after treatment start could serve as biomarkers of cardiotoxicity in a very early stage in breast cancer patients receiving anti-HER2 therapy.
Is Radical Doubt Morally Wrong?
Authors: Ranalli Chris 
Published: May 2024

AbstractIs radical skepticism ethically problematic? This paper argues that it is. Radical skepticism’s strong regulation of our doxastic economy results in us having to forego doxastic commitments that we owe to others. Whatever skepticism’s epistemic defects, it is ethically defective. In turn, I defend Moralism, the view that the kind of extreme doubt characteristic of radical skepticism is a serious moral and eudaimonic weakness of radical skeptical epistemology. Whether this means that skepticism is false or incorrect, however, is a further claim that Moralists may or may not accept. I distinguish between an encroachment and abrogation version of the view, and show how each one bears on radical skepticism. In either case, Moralism makes our beliefs less vulnerable to radical revision. The paper concludes with some exploratory reflections on whether the argument can be extended to show that radical skepticism is politically problematic, even risking injustice.