bluuebunny/crossref_metadata_2025_split huggingface dataset:
Disentangling the PIGD classification for the prediction of cognitive impairment in de novo Parkinson’s disease
Authors: Urso Daniele , Leta Valentina , Batzu Lucia , Yousaf Tayyabah , Farrell Chloe , van Wamelen Daniel J. , Ray Chaudhuri K. 
Published: August 2021

Abstract
Background
Postural Instability and Gait difficulties (PIGD) subtype has been associated with worse cognitive performance in Parkinson’s disease (PD).

Objective
To investigate whether PIGD subtype classification or PIGD-related clinical features predict the development of cognitive decline in de novo PD patients.

Methods
Data from 422 PD patients with de novo PD were obtained from the PPMI database. At follow-up (up to 6 years), patients were categorized as having cognitive impairment or not. Multivariate Cox survival analysis was carried out including motor subtype and individual MDS-UPDRS items defining PIGD phenotype as predictors. Previously validated clinical predictors of cognitive impairment were included in the model as covariates. Occurrence of cognitive impairment at follow-up was used as the time-to-event and Kaplan–Meier curve was generated.

Results
At baseline, 76 patients were classified as PIGD, 299 tremor-dominant and 47 as indeterminate. Development of cognitive impairment was not associated with PIGD subtype (p = 0.252). When individual MDS-UPDRS items were interrogated in the model, postural instability proved to be an independent predictor of cognitive impairment (HR = 2.045; 95%CI: 1.068–3.918; p = 0.031), while gait difficulties were not associated with cognitive decline (p = 0.870).

Conclusions
Our findings suggest that postural instability, as assessed by MDS-UPDRS III, may serve as a possible indicator of the risk of developing cognitive impairment in de novo PD patients rather than the PIGD phenotype.
Pitfalls in quantifying exploration in reward-based motor learning and how to avoid them
Authors: van Mastrigt Nina M. , van der Kooij Katinka , Smeets Jeroen B. J. 
Published: August 2021

AbstractWhen learning a movement based on binary success information, one is more variable following failure than following success. Theoretically, the additional variability post-failure might reflect exploration of possibilities to obtain success. When average behavior is changing (as in learning), variability can be estimated from differences between subsequent movements. Can one estimate exploration reliably from such trial-to-trial changes when studying reward-based motor learning? To answer this question, we tried to reconstruct the exploration underlying learning as described by four existing reward-based motor learning models. We simulated learning for various learner and task characteristics. If we simply determined the additional change post-failure, estimates of exploration were sensitive to learner and task characteristics. We identified two pitfalls in quantifying exploration based on trial-to-trial changes. Firstly, performance-dependent feedback can cause correlated samples of motor noise and exploration on successful trials, which biases exploration estimates. Secondly, the trial relative to which trial-to-trial change is calculated may also contain exploration, which causes underestimation. As a solution, we developed the additional trial-to-trial change (ATTC) method. By moving the reference trial one trial back and subtracting trial-to-trial changes following specific sequences of trial outcomes, exploration can be estimated reliably for the three models that explore based on the outcome of only the previous trial. Since ATTC estimates are based on a selection of trial sequences, this method requires many trials. In conclusion, if exploration is a binary function of previous trial outcome, the ATTC method allows for a model-free quantification of exploration.
Novel RGAG1-BCOR gene fusion revealed in a somatic soft tissue sarcoma with a long follow-up
Authors: Vasella Mauro , Wagner Ulrich , Fritz Christine , Seidl Kati , Giudici Luca , Exner Gerhard Ulrich , Moch Holger , Wild Peter Johannes , Bode-Lesniewska Beata 
Published: July 2021

AbstractBCOR-rearranged sarcomas are rare and belong to the Ewing-like sarcomas (ELS). Their morphology and histopathological features make the diagnosis challenging. We present a case, initially diagnosed as an unusual extraskeletal myxoid chondrosarcoma (EMC). A 54-year-old male patient developed an asymptomatic swelling of the lower leg. Imaging showed a 9.5-cm large intramuscular soft tissue mass. Due to its morphological and immunohistochemical profile on biopsy, it was initially diagnosed as an EMC. The patient was treated by complete resection and adjuvant radiotherapy and remained free of tumor at 7 years follow-up. Using next-generation sequencing (NGS), we retrospectively identified RGAG1-BCOR gene fusion (confirmed by RT-PCR), which has not been described in somatic soft tissue tumors so far. This finding broadens the spectrum of partner genes in the BCOR-rearranged sarcomas in a tumor with a well-documented, long clinical follow-up.
Die Rechte zukünftiger Kinder im Kontext pränataler Diagnostik
Authors: Schmitz Dagmar , Düwell Marcus 
Published: August 2021

ZusammenfassungDas Gendiagnostikgesetz (GenDG) verbietet seit 2010 die pränatale Diagnostik spätmanifestierender Erkrankungen (§ 15(2) GenDG). In seiner Begründung bezog sich der Gesetzgeber in Analogie zu internationalen Empfehlungen für den pädiatrischen Bereich vor allem auf das Recht des heranwachsenden Kindes bzw. des späteren Erwachsenen auf Nichtwissen. Mit diesem gesetzlichen Verbot hat Deutschland einen viel diskutierten Sonderweg in der Regulierung genetischer Pränataldiagnostik eingeschlagen. Seither jedoch hat sich nicht nur die Perspektive auf prädiktive Testungen im Kindesalter verändert. In zunehmendem Maße generieren auf das gesamte Genom abzielende Diagnostikangebote auch andere vorgeburtlich genetische Informationen, die – in ähnlicher Weise wie diejenigen zu spätmanifestierenden Erkrankungen eine potenzielle Gefahr für das Recht auf Nichtwissen der späteren Person darstellen. Es soll daher im Rahmen dieses Beitrages überprüft werden, inwiefern das deutsche Diagnostikverbot und dessen Bezug auf das Recht auf Nichtwissen des späteren Kindes eine tragfähige Basis zur Regulierung gendiagnostischer Untersuchungen in der Pränatalmedizin insgesamt darstellt bzw. zukünftig darstellen kann.Untersucht wird der Argumentationsgang des Diagnostikverbotes im Hinblick auf spätmanifestierende Erkrankungen vor dem Hintergrund der Entwicklungen in der prädiktiven (genomischen) Diagnostik. Eine Analyse des normativen Begründungsrahmens zeigt, dass nach wie vor deutlicher Klärungsbedarf hinsichtlich der philosophisch-ethischen Fundierung wie auch hinsichtlich der Interpretation eines Rechts auf Nichtwissen eines (zukünftigen) Kindes im Kontext von genetischer Diagnostik besteht. Darüber hinaus müssen auch Interessen des (zukünftigen) Kindes an eventuell möglich werdender pränataler Behandlung oder Prävention von Erkrankungen in die Abwägung miteinbezogen werden.Um zukünftigen Herausforderungen genomischer Pränataldiagnostik und -therapie begegnen zu können, müsste dringend geklärt werden, inwiefern Rechte zukünftiger Personen tatsächlich in der speziellen Situation der Schwangerschaft relevant sein können und mit welchen Pflichten diese für den Gesetzgeber, aber insbesondere auch für zukünftige Eltern und Ärzte einhergehen. Der Menschenrechtsdiskurs könnte hierfür eine tragfähige Basis und hilfreiche Strategien liefern.
A deep embedded refined clustering approach for breast cancer distinction based on DNA methylation
Authors: Amor Rocío del , Colomer Adrián , Monteagudo Carlos , Naranjo Valery 
Published: July 2021

AbstractEpigenetic alterations have an important role in the development of several types of cancer. Epigenetic studies generate a large amount of data, which makes it essential to develop novel models capable of dealing with large-scale data. In this work, we propose a deep embedded refined clustering method for breast cancer differentiation based on DNA methylation. In concrete, the deep learning system presented here uses the levels of CpG island methylation between 0 and 1. The proposed approach is composed of two main stages. The first stage consists in the dimensionality reduction of the methylation data based on an autoencoder. The second stage is a clustering algorithm based on the soft assignment of the latent space provided by the autoencoder. The whole method is optimized through a weighted loss function composed of two terms: reconstruction and classification terms. To the best of the authors’ knowledge, no previous studies have focused on the dimensionality reduction algorithms linked to classification trained end-to-end for DNA methylation analysis. The proposed method achieves an unsupervised clustering accuracy of 0.9927 and an error rate (%) of 0.73 on 137 breast tissue samples. After a second test of the deep-learning-based method using a different methylation database, an accuracy of 0.9343 and an error rate (%) of 6.57 on 45 breast tissue samples are obtained. Based on these results, the proposed algorithm outperforms other state-of-the-art methods evaluated under the same conditions for breast cancer classification based on DNA methylation data.
Tribute to Dr. Takuo Aoyagi, inventor of pulse oximetry
Authors: Miyasaka Katsuyuki , Shelley Kirk , Takahashi Shosuke , Kubota Hironami , Ito Kazumasa , Yoshiya Ikuto , Yamanishi Akio , Cooper Jeffrey B. , Steward David J. , Nishida Hiroshi , Kiani Joe , Ogino Hirokazu , Sata Yasuhiko , Kopotic Robert J. , Jenkin Kitty , Hannenberg Alex , Gawande Atul 
Published: August 2021

Abstract
Introduction
Dr. Takuo Aoyagi invented pulse oximetry in 1974. Pulse oximeters are widely used worldwide, most recently making headlines during the COVID-19 pandemic. Dr. Aoyagi passed away on April 18, 2020, aware of the significance of his invention, but still actively searching for the theory that would take his invention to new heights.

Method
Many people who knew Dr. Aoyagi, or knew of him and his invention, agreed to participate in this tribute to his work. The authors, from Japan and around the world, represent all aspects of the development of medical devices, including scientists and engineers, clinicians, academics, business people, and clinical practitioners.

Results
While the idea of pulse oximetry originated in Japan, device development lagged in Japan due to a lack of business, clinical, and academic interest. Awareness of the importance of anesthesia safety in the US, due to academic foresight and media attention, in combination with excellence in technological innovation, led to widespread use of pulse oximetry around the world.

Conclusion
Dr. Aoyagi’s final wish was to find a theory of pulse oximetry. We hope this tribute to him and his invention will inspire a new generation of scientists, clinicians, and related organizations to secure the foundation of the theory.
Revision surgery for incomplete resection or recurrence of cervical spine chordoma: a consecutive case series of 24 patients
Authors: Obid Peter , Fekete Tamás , Drees Philipp , Haschtmann Daniel , Kleinstück Frank , Loibl Markus , Jeszenszky Dezsö 
Published: August 2021

Abstract
Purpose
Chordomas are rare tumors with an annual incidence of approximately one per million. Chordomas rarely metastasize but show a high local recurrence rate. Therefore, these patients present a major clinical challenge, and there is a paucity of the literature regarding the outcome after revision surgery of cervical spine chordomas. Available studies suggest a significantly worse outcome in revision scenarios. The purpose of this study is to analyze the survival rate, and complications of patients that underwent revision surgery for local recurrence or incomplete resection of chordoma at the craniocervical junction or at the cervical spine.

Methods
24 consecutive patients that underwent revision surgery for cervical spine chordoma remnants or recurrence at a single center were reviewed retrospectively. We analyzed patient-specific surgical treatment strategies, complications, and outcome. Kaplan–Meier estimator was used to analyze five-year overall survival.

Results
Gross total resection was achieved in 17 cases. Seven patients developed dehiscence of the pharyngeal wall, being the most common long-term complication. No instability was observed. Postoperatively, four patients received proton beam radiotherapy and 12 patients had combined photon and proton beam radiotherapy. The five-year overall survival rate was 72.6%.

Conclusion
With thorough preoperative planning, appropriate surgical techniques, and the addition of adjuvant radiotherapy, results similar to those in primary surgery can be achieved.
An Evertse–Ferretti Nevanlinna constant and its consequences
Authors: Ru Min , Vojta Paul 
Published: August 2021

AbstractIn this paper, we introduce the notion of an Evertse–Ferretti Nevanlinna constant and compare it with the birational Nevanlinna constant introduced by the authors in a recent joint paper. We then use it to recover several previously known results. This includes a 1999 example of Faltings from his Baker’s Garden article. We also extend the theory of these Nevanlinna constants to what we call “multidivisor Nevanlinna constants,” which allow the proximity function to involve the maximum of Weil functions for finitely many divisors.
Corrosion analysis of graphite sinter as bipolar plates in the low-temperature PEM fuel cell simulated environments
Authors: Włodarczyk Renata 
Published: August 2021

AbstractThe article presents the results of research and an analysis of the possibility of using sinters made of graphite powder as a material dedicated to the production of bipolar plates for low-temperature fuel cell. The use of powder metallurgy technology allows for the production of materials that meet the requirements for fuel cell elements for the construction of elements closing a single cell (bipolar or monopolar plates) or interconnectors. The morphological and chemical analysis of graphite powder, microstructural analysis of the produced graphite sinter, and the analysis of functional properties, i.e., porosity, roughness, and corrosion resistance under operating conditions of a low-temperature fuel cell, were performed. The corrosion resistance of the graphite sinter was tested in anodic conditions (in a corrosive environment saturated with hydrogen) and in cathodic conditions (in a corrosive environment saturated with oxygen). Graphite sinters show high resistivity in both tested corrosive environments, which allows the use of powder metallurgy technology for serial production of covers for low-temperature fuel cells.
Structural learning and estimation of joint causal effects among network-dependent variables
Authors: Castelletti Federico , Mascaro Alessandro 
Published: August 2021

AbstractBayesian networks in the form of Directed Acyclic Graphs (DAGs) represent an effective tool for modeling and inferring dependence relations among variables, a process known asstructural learning. In addition, when equipped with the notion ofintervention, acausalDAG model can be adopted to quantify the causal effect on a response due to a hypothetical intervention on some variable. Observational data cannot distinguish between DAGs encoding the same set of conditional independencies (Markov equivalent DAGs), which however can be different from acausalperspective. In addition, because causal effects depend on the underlying network structure, uncertainty around the DAG generating model crucially affects the causal estimation results. We propose a Bayesian methodology which combines structural learning of Gaussian DAG models and inference of causal effects as arising from simultaneous interventions on any given set of variables in the system. Our approach fully accounts for the uncertainty around both the network structure and causal relationships through a joint posterior distribution over DAGs, DAG parameters and then causal effects.
Attitudes to and experience of disease management programs in primary care—an exploratory survey of general practitioners in Germany
Authors: Wangler Julian , Jansky Michael 
Published: August 2021

Summary
Background
Disease management programs (DMPs) were set up in Germany in 2003 to improve outpatient care of chronically ill patients. The present study looks at the attitudes and experiences of general practitioners (GPs) in relation to DMPs, how they rate them almost 20 years after their introduction and where they see a need for improvement.

Methods
A total of 1504 GPs in the Federal States of Rhineland Palatinate, Saarland and Hesse were surveyed between December 2019 and March 2020 using a written questionnaire.

Results
In total, 58% of respondents rate DMPs positively and regard them as making a useful contribution to primary care. The guarantee of regular, structured patient care and greater compliance are regarded as particularly positive aspects. It was also established that diagnostic and therapeutic knowledge was expanded through participation in DMPs. 57% essentially follow the DMP recommendations for (drug) treatment. Despite positive experiences of DMPs in patient care, the GPs surveyed mention various challenges (documentation requirements, frequent changes to the programmes, inflexibility). Univariant linear regression analysis revealed factors influencing the satisfaction with DMPs, such as improvement of compliance and clearly defined procedures in medical care.

Conclusion
Most of the GPs surveyed consider the combination of continuous patient care and evidence-based diagnosis and treatment to be a great advantage. To better adapt DMPs to the conditions of primary care, it makes sense to simplify the documentation requirements, to regulate cooperation with other healthcare levels more clearly and to give GPs more decision-making flexibility. Increased inclusion of GP experience in the process of developing and refining DMPs can be helpful.
Confidence interval for micro-averaged F1 and macro-averaged F1 scores
Authors: Takahashi Kanae , Yamamoto Kouji , Kuchiba Aya , Koyama Tatsuki 
Published: July 2021

AbstractA binary classification problem is common in medical field, and we often use sensitivity, specificity, accuracy, negative and positive predictive values as measures of performance of a binary predictor. In computer science, a classifier is usually evaluated with precision (positive predictive value) and recall (sensitivity). As a single summary measure of a classifier’s performance, F1 score, defined as the harmonic mean of precision and recall, is widely used in the context of information retrieval and information extraction evaluation since it possesses favorable characteristics, especially when the prevalence is low. Some statistical methods for inference have been developed for the F1 score in binary classification problems; however, they have not been extended to the problem of multi-class classification. There are three types of F1 scores, and statistical properties of these F1 scores have hardly ever been discussed. We propose methods based on the large sample multivariate central limit theorem for estimating F1 scores with confidence intervals.
A comprehensive model and computational methods to improve Situation Awareness in Intelligence scenarios
Authors: Gaeta Angelo , Loia Vincenzo , Orciuoli Francesco 
Published: July 2021

AbstractThis paper presents a comprehensive model for representing and reasoning on situations to support decision makers in Intelligence analysis activities. The main result presented in the paper stems from a work of refinement and abstraction of previous results of the authors related to the use of Situation Awareness and Granular Computing for the development of analysis methods and techniques to support Intelligence. This work made it possible to derive the characteristics of the model from previous case studies and applications with real data, and to link the reasoning techniques to concrete approaches used by intelligence analysts such as, for example, the Structured Analytic Techniques. The model allows to represent an operational situation according to three complementary perspectives: descriptive, relational and behavioral. These three perspectives are instantiated on the basis of the principles and methods of Granular Computing, mainly based on the theories of fuzzy and rough sets, and with the help of further structures such as graphs. As regards the reasoning on the situations thus represented, the paper presents four methods with related case studies and applications validated on real data.
Adult cold tolerance and potential North American distribution of Myllocerus undecimpustulatus undatus (Coleoptera: Curculionidae)
Authors: Neal Anita S. , Diaz Rodrigo , Qureshi Jawwad A. , Cave Ronald D. 
Published: July 2021

AbstractCold tolerance and potential distribution of Myllocerus undecimpustulatus undatus Marshall, a polyphagous pest in the United States, were investigated. Adult survivorship after 2 days at 0 °C and − 5 °C averaged 60% and 18%, respectively. Four days of exposure resulted in survivorship of 11% at 0 °C and 4% at − 5 °C, respectively. Summer-collected weevils at − 5 °C through repeated cold exposure of 2 h survived 3 times longer than those subjected to sustained cold period of 10 h. Leaf consumption did not differ among summer-collected weevils at constant 20 °C and repeated cold exposure treatments; weevils under sustained cold exposure consumed less than weevils in repeated cold exposure treatments. Leaf area consumed after cold exposure was 2–4 times greater in winter-collected weevils compared to summer-collected weevils. Leaf consumption by winter-collected weevils decreased as the number of repeated cold exposure periods increased. Locality data from collections in Florida during 2000–2012 were used to produce a correlative model complemented by a mechanistic model from the cold tolerance data to project the potential distribution of M. undecimpustulatus undatus in North America. The models support the hypothesis that M. undecimpustulatus undatus could spread to areas of the southeastern and western United States. The predicted northern distribution followed an isothermal line about 33° North. The niche model defined an area along the western Gulf Coast as unsuitable for the weevil, possibly because the area receives greater annual rainfall than other areas of the southeastern United States and has aquic or udic soil unlike the well-drained sandy soil of peninsular Florida.