bluuebunny/crossref_metadata_2025_split huggingface dataset:
Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases
Authors: Holdhof Dörthe , Johann Pascal D. , Spohn Michael , Bockmayr Michael , Safaei Sepehr , Joshi Piyush , Masliah-Planchon Julien , Ho Ben , Andrianteranagna Mamy , Bourdeaut Franck , Huang Annie , Kool Marcel , Upadhyaya Santhosh A. , Bendel Anne E. , Indenbirken Daniela , Foulkes William D. , Bush Jonathan W. , Creytens David , Kordes Uwe , Frühwald Michael C. , Hasselblatt Martin , Schüller Ulrich 
Published: December 2020

AbstractAtypical teratoid/rhabdoid tumors (ATRTs) are very aggressive childhood malignancies of the central nervous system. The underlying genetic cause are inactivating bi-allelic mutations in SMARCB1 or (rarely) in SMARCA4. ATRT-SMARCA4 have been associated with a higher frequency of germline mutations, younger age, and an inferior prognosis in comparison to SMARCB1 mutated cases. Based on their DNA methylation profiles and transcriptomics, SMARCB1 mutated ATRTs have been divided into three distinct molecular subgroups: ATRT-TYR, ATRT-SHH, and ATRT-MYC. These subgroups differ in terms of age at diagnosis, tumor location, type of SMARCB1 alterations, and overall survival. ATRT-SMARCA4 are, however, less well understood, and it remains unknown, whether they belong to one of the described ATRT subgroups. Here, we examined 14 ATRT-SMARCA4 by global DNA methylation analyses. We show that they form a separate group segregating from SMARCB1 mutated ATRTs and from other SMARCA4-deficient tumors like small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) or SMARCA4 mutated extra-cranial malignant rhabdoid tumors. In contrast, medulloblastoma (MB) samples with heterozygous SMARCA4 mutations do not group separately, but with established MB subgroups. RNA sequencing of ATRT-SMARCA4 confirmed the clustering results based on DNA methylation profiling and displayed an absence of typical signature genes upregulated in SMARCB1 deleted ATRT. In summary, our results suggest that, in line with previous clinical observations, ATRT-SMARCA4 should be regarded as a distinct molecular subgroup.
Reliability of neural food cue-reactivity in participants with obesity undergoing bariatric surgery: a 26-week longitudinal fMRI study
Authors: Bach Patrick , Grosshans Martin , Koopmann Anne , Kienle Peter , Vassilev Georgi , Otto Mirko , Bumb J. Malte , Kiefer Falk 
Published: December 2020

AbstractObesity is highly prevalent worldwide and results in a high disease burden. The efforts to monitor and predict treatment outcome in participants with obesity using functional magnetic resonance imaging (fMRI) depends on the reliability of the investigated task-fMRI brain activation. To date, no study has investigated whole-brain reliability of neural food cue-reactivity. To close this gap, we analyzed the longitudinal reliability of an established food cue-reactivity task. Longitudinal reliability of neural food-cue-induced brain activation and subjective food craving ratings over three fMRI sessions (T0: 2 weeks before surgery, T1: 8 weeks and T2: 24 weeks after surgery) were investigated in N = 11 participants with obesity. We computed an array of established reliability estimates, including the intraclass correlation (ICC), the Dice and Jaccard coefficients and similarity of brain activation maps. The data indicated good reliability (ICC > 0.6) of subjective food craving ratings over 26 weeks and excellent reliability (ICC > 0.75) of brain activation signals for the contrast of interest (food > neutral) in the caudate, putamen, thalamus, middle cingulum, inferior, middle and superior occipital gyri, and middle and superior temporal gyri and cunei. Using similarity estimates, it was possible to re-identify individuals based on their neural activation maps (73%) with a fading degree of accuracy, when comparing fMRI sessions further apart. The results show excellent reliability of task-fMRI neural brain activation in several brain regions. Current data suggest that fMRI-based measures might indeed be suitable to monitor and predict treatment outcome in participants with obesity undergoing bariatric surgery.
Automated age estimation of young individuals based on 3D knee MRI using deep learning
Authors: Mauer Markus Auf der , Well Eilin Jopp-van , Herrmann Jochen , Groth Michael , Morlock Michael M. , Maas Rainer , Säring Dennis 
Published: December 2020

AbstractAge estimation is a crucial element of forensic medicine to assess the chronological age of living individuals without or lacking valid legal documentation. Methods used in practice are labor-intensive, subjective, and frequently comprise radiation exposure. Recently, also non-invasive methods using magnetic resonance imaging (MRI) have evaluated and confirmed a correlation between growth plate ossification in long bones and the chronological age of young subjects. However, automated and user-independent approaches are required to perform reliable assessments on large datasets. The aim of this study was to develop a fully automated and computer-based method for age estimation based on 3D knee MRIs using machine learning. The proposed solution is based on three parts: image-preprocessing, bone segmentation, and age estimation. A total of 185 coronal and 404 sagittal MR volumes from Caucasian male subjects in the age range of 13 and 21 years were available. The best result of the fivefold cross-validation was a mean absolute error of 0.67 ± 0.49 years in age regression and an accuracy of 90.9%, a sensitivity of 88.6%, and a specificity of 94.2% in classification (18-year age limit) using a combination of convolutional neural networks and tree-based machine learning algorithms. The potential of deep learning for age estimation is reflected in the results and can be further improved if it is trained on even larger and more diverse datasets.
Verbal estimation of the magnitude of time, number, and length
Authors: Ogden R. S. , Simmons F. R. , Wearden J. H. 
Published: December 2020

AbstractPerformance similarities on tasks requiring the processing of different domains of magnitude (e.g. time, numerosity, and length) have led to the suggestion that humans possess a common processing system for all domains of magnitude (Bueti and Walsh in Philos Trans R Soc B 364:1831–1840, 2009). In light of this, the current study examined whether Wearden’s (Timing Time Percept 3:223–245, 2015) model of the verbal estimation of duration could be applied to verbal estimates of numerosity and length. Students (n = 23) verbally estimated the duration, number, or physical length of items presented in visual displays. Analysis of the mean verbal estimates indicated the data were typical of that found in other studies. Analysis of the frequency of individual verbal estimates produced suggested that the verbal responses were highly quantized for duration and length: that is, only a small number of estimates were used. Responses were also quantized for number but to a lesser degree. The data were modelled using Wearden’s (2015) account of verbal estimation performance, which simulates quantization effects, and good fits could be obtained providing that stimulus durations were scaled as proportions (0.75, 1.06, and 0.92 for duration, number, and length, respectively) of their real magnitudes. The results suggest that despite previous reports of similarities in the processing of magnitude, there appear to be differences in the way in which the underlying representations of the magnitudes are scaled and then transformed into verbal outputs.
Minimally invasive procedure for removal of infected ventriculoatrial shunts
Authors: Magrassi Lorenzo , Mezzini Gianluca , Moramarco Lorenzo Paolo , Cionfoli Nicola , Shepetowsky David , Seminari Elena , Di Matteo Angela , Quaretti Pietro 
Published: December 2020

Abstract
Background
Ventriculoatrial shunts were one of the most common treatments of hydrocephalus in pediatric and adult patients up to about 40 years ago. Thereafter, due to the widespread recognition of the severe cardiac and renal complications associated with ventriculoatrial shunts, they are almost exclusively implanted when other techniques fail. However, late infection or atrial thrombi of previously implanted shunts require removal of the atrial catheter several decades after implantation. Techniques derived from management of central venous access catheters can avoid cardiothoracic surgery in such instances.

Methods
We retrospectively investigated all the patients requiring removal of a VA shunt for complications treated in the last 5 years in our institution.

Results
We identified two patients that were implanted 28 and 40 years earlier. Both developed endocarditis with a large atrial thrombus and were successfully treated endovascularly. The successful percutaneous removal was achieved by applying, for the first time in this setting, the endoluminal dilation technique as proposed by Hong. After ventriculoatrial shunt removal and its substitution with an external drainage, both patients where successfully weaned from the need for a shunt and their infection resolved.

Conclusion
Patients carrying a ventriculoatrial shunt are now rarely seen and awareness of long-term ventriculoatrial shunt complications is decreasing. However, these complications must be recognized and treated by shunt removal. Endovascular techniques are appropriate even in the presence of overt endocarditis, atrial thrombi, and tight adherence to the endocardial wall. Moreover, weaning from shunt dependence is possible even decades after shunting.
Adult attention-deficit/hyperactivity disorder symptoms, cognitive dysfunction and quality of life in high-dose use of benzodiazepine and Z-drug
Authors: Federico Angela , Mantovani Elisa , Casari Rebecca , Bertoldi Anna , Lugoboni Fabio , Tamburin Stefano 
Published: December 2020

AbstractHigh-dose use of benzodiazepines (BZDs) and Z-drugs was found to be associated with adult attention deficit/hyperactivity disorder (ADHD) and multidomain cognitive deficits, but the interplay between these factors and its effect on quality of life (QoL) is unclear. We explored (a) whether cognitive dysfunction differs in high-dose BZD/Z-drug users with and without adult ADHD and (b) the impact of cognitive deficits and adult ADHD on QoL in this substance-use disorder (SUD). From January 2015 to December 2019, we recruited 207 high-dose BZD/Z-drug users seeking treatment. We assessed the presence of adult ADHD with a screening tool, which was validated in SUD patients, and collected demographic, clinical and QoL data from the 76 included patients. A neuropsychological battery explored five cognitive domains. We found that: (a) screening for adult ADHD was frequently positive; (b) Short Form-36 (SF-36), a self-administered QoL questionnaire, was worse than the general population and worse in patients positive (ADHD+) vs. those negative (ADHD−) to ADHD screening tool; (c) executive function was significantly worse in ADHD+ than ADHD− patients; (d) some SF-36 dimensions were negatively influenced by executive dysfunction; (e) multivariate analysis showed an interplay between adult ADHD and cognitive dysfunction in worsening QoL. We documented a complex interplay between adult ADHD, cognitive dysfunction and QoL in high-dose BZD/Z-drug users. Assessing adult ADHD, neuropsychological measures and QoL may offer a full scenario of these patients, who are frequently impaired in everyday activities. Future research should explore whether pharmacological treatment might improve cognitive dysfunction and QoL in this SUD.
Fear of childbirth during pregnancy: associations with observed mother-infant interactions and perceived bonding
Authors: Challacombe Fiona L. , Nath Selina , Trevillion Kylee , Pawlby Susan , Howard Louise M. 
Published: December 2020

AbstractFear of childbirth (FOC) is a common phenomenon that can impair functioning in pregnancy but potential longer term implications for the mother-infant relationship are little understood. This study was aimed at investigating postpartum implications of FOC on the mother-infant relationship. A UK sample of 341 women in a community setting provided data on anxiety, mood and FOC in mid-pregnancy and subsequently completed self-report measures of postnatal bonding in a longitudinal cohort study. Postnatal observations of mother-infant interactions were collected and rated for a subset of 141 women. FOC was associated with maternal perception of impaired bonding, even after controlling for sociodemographic factors, concurrent depression and the presence of anxiety disorders (Coef = 0.10, 95% CI 0.07–0.14, p < 0.001). Observed mother-infant interactions were not associated with FOC (Coef = -0.01-0.03 CI − 0.02 to 0.02, p = 0.46), weakly with concurrent depression (Coef = − 0.10, CI − 0.19 to 0.00, p = 0.06) and not associated with anxiety disorders. The self-efficacy component of FOC was most strongly associated with lower reported bonding (Coef 0.37, 95% CI 0.25–0.49, p < 0.001) FOC makes a distinct contribution to perceived postpartum bonding difficulties but observed mother-infant interaction quality was not affected. This may be due to low self-efficacy impacting psychological adjustment during pregnancy. Targeted interventions during pregnancy focusing both on treatment of key childbirth fears and bonding could help women adjust earlier.
Immersive training of first responder squad leaders in untethered virtual reality
Authors: Mossel Annette , Schoenauer Christian , Froeschl Mario , Peer Andreas , Goellner Johannes , Kaufmann Hannes 
Published: December 2020

AbstractWe present the VROnSite platform that supports immersive training of first responder units’ on-site squad leaders. Our training platform is fully immersive, entirely untethered to ease use and provides two means of navigation—abstract and natural walking—to simulate stress and exhaustion, two important factors for decision making. With the platform’s capabilities, we close a gap in prior art for first responder training. Our research is closely interlocked with stakeholders from multiple fire brigades to gather early feedback in an iterative design process. In this paper, we present the system’s design rationale, provide insight into the process of training scenario development and present results of a user study with 41 squad leaders from the firefighting domain. Virtual disaster environments with two different navigation types were evaluated using quantitative and qualitative measures. Participants considered our platform highly suitable for training of decision making in complex first responder scenarios and results show the importance of the provided navigation technologies in this context.
Physics and Beyond: Essay review of Kay Herrmann (Ed.): Grete Henry-Hermann: Philosophie–Mathematik–Quantenmechanik. Springer: Wiesbaden 2019, xv + 663 pp.
Authors: Bacciagaluppi Guido 
Published: December 2020

AbstractUsing the volume of her works and correspondence recently edited by K. Herrmann, I assess the significance of Grete Hermann's work.
The evolutionary pattern of language in scientific writings: A case study of Philosophical Transactions of Royal Society (1665–1869)
Authors: Sun Kun , Liu Haitao , Xiong Wenxin 
Published: December 2020

AbstractScientific writings, as one essential part of human culture, have evolved over centuries into their current form. Knowing how scientific writings evolved is particularly helpful in understanding how trends in scientific culture developed. It also allows us to better understand how scientific culture was interwoven with human culture generally. The availability of massive digitized texts and the progress in computational technologies today provide us with a convenient and credible way to discern the evolutionary patterns in scientific writings by examining the diachronic linguistic changes. The linguistic changes in scientific writings reflect the genre shifts that took place with historical changes in science and scientific writings. This study investigates a general evolutionary linguistic pattern in scientific writings. It does so by merging two credible computational methods: relative entropy; word-embedding concreteness and imageability. It thus creates a novel quantitative methodology and applies this to the examination of diachronic changes in thePhilosophical Transactions of Royal Society(PTRS, 1665–1869). The data from two computational approaches can be well mapped to support the argument that this journal followed the evolutionary trend of increasing professionalization and specialization. But it also shows that language use in this journal was greatly influenced by historical events and other socio-cultural factors. This study, as a “culturomic” approach, demonstrates that the linguistic evolutionary patterns in scientific discourse have been interrupted by external factors even though this scientific discourse would likely have cumulatively developed into a professional and specialized genre. The approaches proposed by this study can make a great contribution to full-text analysis in scientometrics.
A synopsis of Plagiocheilus (Compositae: Astereae)
Authors: Hind D. J. Nicholas 
Published: December 2020

SummaryA synopsis of Plagiocheilus (Compositae: Astereae) is provided, giving full synonymy, type citations and the location of known types, together with relevant notes and commentary, and the currently accepted distribution of each taxon; the distribution of taxa is also tabulated. Six species are recognised, one containing three subspecies. A key to species is presented. One author citation is corrected following an incorrect assumption by de Candolle when describing Plagiocheilus tanacetoides. The synonymy of Polygyne inconspicua, under Eclipta prostrata, is précised once again. An index to names associated with Plagiocheilus is given, and the nomen nudum of Plagiocheilus herzogii commented upon.
Bryostroma popei — a new bryophilous ascomycete from the British Isles, with a worldwide key to the genus Bryostroma
Authors: Greiff George R. L. , Cannon Paul F. 
Published: December 2020

SummaryThe bryophilous Bryostroma popei is a novel ascomycete that infects the pleurocarpous moss Leptodictyum riparium. The morphology of the new species is described, illustrated and compared to other species in the genus. A key to the nine species of Bryostroma is provided.
Biologika-Therapie der atopischen Dermatitis
Authors: Quint T. , Bangert C. 
Published: December 2020

ZusammenfassungDie atopische Dermatitis (AD) ist eine chronisch-entzündliche Hauterkrankung, die mit quälendem Juckreiz, entzündlichen ekzematösen Läsionen, erhöhtem Risiko für sekundäre Hautinfektionen und einer dadurch stark verminderten Lebensqualität einhergeht. Die AD ist durch eine dominante T-Helfer-Typ 2(Th2)-Immunantwort gekennzeichnet, die von T2-Zytokinen, wie Interleukin(IL)-4 und IL-13 dominiert wird, welche eine Entzündungsreaktion sowie Dysfunktion der epidermalen Barriere hervorrufen. Das therapeutische Ziel der AD besteht in der Verbesserung des Juckreizes und der entzündlichen Hautveränderungen. Die Therapieoptionen waren bisher limitiert und bestanden hauptsächlich aus rückfettender Pflege, topischen Kortikosteroiden (TCS) und systemischen Immunsuppressiva, die mit zahlreichen Nebenwirkungen verbunden sind. Neue Erkenntnisse in der Pathophysiologie der AD haben es ermöglicht, moderne Behandlungsoptionen zu entwickeln, die selektiv auf krankheitsverursachende Pfade abzielen und diese blockieren. Dupilumab, ein vollständig humaner monoklonaler Antikörper, der gegen die alpha-Untereinheit des IL-4-Rezeptors gerichtet ist, war das erste Biologikum, das im Jahr 2017 von der FDA und EMA für die Therapie der AD zugelassen wurde. In diesem Artikel stellen wir neue therapeutische Ansätze vor, die entweder kürzlich zugelassen wurden oder derzeit mit viel versprechendem Erfolg in klinischen Studien zur Behandlung von AD eingesetzt werden. Die meisten Behandlungsmöglichkeiten sind derzeit auf Erwachsene und Jugendliche mit schwerer, refraktärer AD beschränkt.
A challenging complication following SARS-CoV-2 infection: a case of pulmonary mucormycosis
Authors: Pasero Daniela , Sanna Silvana , Liperi Corrado , Piredda Davide , Branca Gian Pietro , Casadio Lorenzo , Simeo Raffaella , Buselli Alice , Rizzo Davide , Bussu Francesco , Rubino Salvatore , Terragni Pierpaolo 
Published: December 2020

AbstractSevere acute respiratory syndrome coronavirus 2 infection might induce a significant and sustained lymphopenia, increasing the risk of developing opportunistic infections. Mucormycosis is a rare but severe invasive fungal infection, mainly described in immunocompromised patients. The first case of a patient diagnosed with coronavirus disease (COVID-19) who developed a pulmonary mucormycosis with extensive cavitary lesions is here reported. This case highlights how this new coronavirus might impair the immune response, exposing patients to higher risk of developing opportunistic infections and leading to worse outcomes.
House dust mite immunotherapy in Germany: real-world adherence to a subcutaneous allergoid and a sublingual tablet
Authors: Vogelberg C. , Brüggenjürgen B. , Richter H. , Jutel M. 
Published: December 2020

SummaryPurposeAllergen immunotherapy (AIT) is the only disease-modifying treatment for allergic rhinitis (AR) and asthma (AA) with increasing efficacy observed during the recommended 3 years of treatment and the potential for medium and long-term benefits. Adherence is of utmost importance to achieve these goals in real life. The objective of this study was to evaluate real-world adherence to house dust mite (HDM) AIT with a subcutaneous (SCIT) allergoid preparation and a sublingual (SLIT) tablet.Patients and methodsIn this retrospective cohort analysis of a German longitudinal prescription database, patients receiving either a HDM-SCIT allergoid (n = 5677) or a HDM-SLIT tablet (n = 4720) were compared over a 3-year observation period. Study endpoints included adherence and days on therapy (DoT). Univariate statistical tests were used to assess the significance of the differences between SCIT vs. SLIT or the age classes.ResultsBased on the number of reimbursed prescriptions SCIT adherence was 55.0% after 3 years while SLIT adherence was remarkably lower with 30.3% (p < 0.0001). The difference was observed already after first and second year of treatment and was in favor of SCIT with 93.2% vs. 63.2% and 70.9% vs. 43.4%, respectively. After 3 years, days on therapy were significantly higher in the SCIT group with 824 days vs. 491 days (p < 0.0001) showing significantly better data for all age groups. Adherence to SCIT was the highest in children, followed by adolescents and adults while the adherence to SLIT was higher in adults than adolescents.ConclusionIn this retrospective real-world cohort analysis in Germany, patients on subcutaneous AIT for HDM respiratory allergy achieved significantly higher adherence rates compared to the HDM-SLIT tablet over a 3-year treatment period. In addition, days on therapy were significantly higher for SCIT than for SLIT. It was shown that in real life significantly more patients receiving SCIT stay on the recommended treatment period of 3 years compared to SLIT subjects. This is important since effectiveness has been demonstrated to be linked with therapy duration.