bluuebunny/crossref_metadata_2025_split huggingface dataset:
Improvement in motor symptoms, physical fatigue, and self-rated change perception in functional motor disorders: a prospective cohort study of a 12-week telemedicine program
Authors: Gandolfi Marialuisa , Sandri Angela , Geroin Christian , Bombieri Federica , Riello Marianna , Menaspà Zoe , Bonetto Chiara , Smania Nicola , Tinazzi Michele 
Published: July 2022

Abstract
Background
Functional motor disorders (FMDs) are highly disabling conditions associated with long-term disability, poor quality of life, and economic burden on health and social care. While multidisciplinary 5-days rehabilitation programs have been shown to reduce motor and non-motor symptoms, long-term management and monitoring in FMDs remain an unmet need.

Aim
To compare a 12-weeks telemedicine program against a 12-weeks self-management program after a 5-days rehabilitation program for improving motor, non-motor symptoms, quality of life, and perception of change in patients with FMDs.

Methods
The study population was 64 consecutive patients with a definite diagnosis of FMDs who underwent a 5-days in-person rehabilitation program followed by either a self-management (the first 32 patients) or a telemedicine program (the latter 32 patients). Validated measures of motor and non-motor symptoms such as fatigue and pain, quality of life, perception of change, gait, and postural control were recorded before (T0), after completion of rehabilitation (T1), and then again at 3 months (T2).

Results
Improvement at 3-month follow-up assessment of motor symptoms (p < 0.001), physical fatigue (p = 0.028), and self-rated change perception (p = 0.043) was greater in the telemedicine group. No different between-groups effect was found on other dimensions of fatigue, pain, physical and mental health, and gait and postural control.

Conclusions
Long-term management and expert monitoring of patients with FMDs via telemedicine may enhance long-term outcomes in motor symptoms and physical fatigue, with a positive long-term impact on self-rated health perception of change.
A technique for preparing undecalcified osteochondral fresh frozen sections for elemental mapping and understanding disease etiology
Authors: Fan Xiwei , Lee Kah Meng , Jones Michael W. M. , Howard Daryl , Crawford Ross , Prasadam Indira 
Published: July 2022

AbstractThe anatomy of the osteochondral junction is complex because several tissue components exist as a unit, including uncalcified cartilage (with superficial, middle, and deep layers), calcified cartilage, and subchondral bone. Furthermore, it is difficult to study because this region is made up of a variety of cell types and extracellular matrix compositions. Using X-ray fluorescence microscopy, we present a protocol for simultaneous elemental detection on fresh frozen samples. We transferred the osteochondral sample using a tape-assisted system and successfully tested it in synchrotron X-ray fluorescence. This protocol elucidates the distinct distribution of elements at the human knee’s osteochondral junction, making it a useful tool for analyzing the co-distribution of various elements in both healthy and diseased states.
Crohn’s disease may promote inflammation in IgA nephropathy: a case–control study of patients undergoing kidney biopsy
Authors: Akiyama Minako , Shimomura Kosuke , Yoshimoto Hiroshi , Sako Minako , Kodama Makoto , Abe Keiko , Gunji Mariko , Kang Dedong , Takaki Takashi , Wada Yukihiro , Iyoda Masayuki , Honda Kazuho 
Published: July 2022

Abstract
Intestinal immunity has been closely associated with the pathogenesis and progression of renal diseases, a relationship known as the “gut–kidney axis.” To determine the association between immunoglobulin A nephropathy (IgAN) and Crohn’s disease (CD), a clinico-pathological study was performed on patients who had IgAN with CD (CD-IgAN) and without CD (NOS-IgAN). We enrolled 29 patients diagnosed with IgAN via renal biopsy at the Tokyo Yamate Medical Center from 2009 to 2017. The patients were divided into CD-IgAN (n = 18) and NOS-IgAN (n = 11) and evaluated for clinical and pathological findings. IgA subclasses and galactose-deficient IgA1 (Gd-IgA1) were examined via immunohistochemistry using formalin-fixed paraffin-embedded sections from renal biopsy. Our results showed no significant difference in the extent of mesangial IgA subclasses or Gd-IgA1 deposition according to the presence or absence of CD. Pathologically, however, those with CD-IgAN had remarkably higher percentage of global glomerulosclerosis and extent of interstitial fibrosis and tubular atrophy (IF/TA) compared to those with NOS-IgAN. Moreover, the extent of macrophage infiltration in the glomerulus and interstitium was significantly higher in CD-IgAN than in NOS-IgAN. Clinically, the CD-IgAN group had significantly worse responsiveness to steroid treatment compared to the NOS-IgAN group. In conclusion, the similar immunological characteristics of deposited IgA molecules in the glomeruli between the CD-IgAN and NOS-IgAN groups might suggest their etiological similarity. However, a renal pathology showing advanced glomerular and tubulointerstitial sclerosis accompanying increased macrophage infiltration and highly resistant clinical features in patients with CD-IgAN suggests that some pathophysiological factors in CD, including abnormal intestinal immunity, may promote and activate the inflammatory process in IgAN via undetermined mechanisms.
A Within-Subject Comparison of Face-to-Face and Telemedicine Screening Using the Timed Water Swallow Test (TWST) and the Test of Mastication and Swallowing of Solids (TOMASS)
Authors: Karlsson Fredrik , Lovric Leo , Matthelié Josephine , Brage Louise , Hägglund Patricia 
Published: July 2022

AbstractThe Timed Water Swallow Test (TWST) and the Test of Mastication of Solids (TOMASS) are dysphagia screening procedures that have been shown to be reliably assessed from video. The reliability of the procedures performed over telemedicine has not previously been assessed. TWST and TOMASS outcomes in two situations (both face-to-face and over telemedicine) were compared for 48 participants (aged 60–90; 27 with clinical conditions and 21 older persons). Both testing situation and test performed order were randomized, and all assessment procedures were performed within 3 h of each other. The results indicated a high level of agreement between face-to-face and telemedicine screening outcomes for TWST and TOMASS, respectively. The assessments indicated an 83% and 76% agreement in classifications of individual participants as within or outside normal limits for the TWST and TOMASS for the two test situations. The TWST showed a balanced distribution in differing classification in telemedicine (0.16–0.19 error rates). The TOMASS procedure classified more participants as outside normal limits over telemedicine compared to face-to-face administration. Agreement in the observed number of swallows was substantially lower than other outcome measures, which is attributed to increased difficulty in observing this property over video. Most participants (60%) reported that they would prefer telemedicine over face-to-face assessments, and 90% viewed the procedure as more accessible than expected. All participants were satisfied with the telemedicine procedures. The results suggest that clinical assessment of dysphagia over telemedicine using the TWST and TOMASS are viable alternatives to face-to-face administration of the procedures.
A coupling strategy for a first 3D-1D model of the cardiovascular system to study the effects of pulse wave propagation on cardiac function
Authors: Caforio Federica , Augustin Christoph M. , Alastruey Jordi , Gsell Matthias A. F. , Plank Gernot 
Published: July 2022

AbstractA key factor governing the mechanical performance of the heart is the bidirectional coupling with the vascular system, where alterations in vascular properties modulate the pulsatile load imposed on the heart. Current models of cardiac electromechanics (EM) use simplified 0D representations of the vascular system when coupling to anatomically accurate 3D EM models is considered. However, these ignore important effects related to pulse wave transmission. Accounting for these effects requires 1D models, but a 3D-1D coupling remains challenging. In this work, we propose a novel, stable strategy to couple a 3D cardiac EM model to a 1D model of blood flow in the largest systemic arteries. For the first time, a personalised coupled 3D-1D model of left ventricle and arterial system is built and used in numerical benchmarks to demonstrate robustness and accuracy of our scheme over a range of time steps. Validation of the coupled model is performed by investigating the coupled system’s physiological response to variations in the arterial system affecting pulse wave propagation, comprising aortic stiffening, aortic stenosis or bifurcations causing wave reflections. Our first 3D-1D coupled model is shown to be efficient and robust, with negligible additional computational costs compared to 3D-0D models. We further demonstrate that the calibrated 3D-1D model produces simulated data that match with clinical data under baseline conditions, and that known physiological responses to alterations in vascular resistance and stiffness are correctly replicated. Thus, using our coupled 3D-1D model will be beneficial in modelling studies investigating wave propagation phenomena.
Uncertainty and the unmet informational needs of patients with cancer of unknown primary (CUP): a cross-sectional multi-site study
Authors: Guccione Lisa , Fisher Krista , Mileshkin Linda , Tothill Richard , Bowtell David , Quinn Stephen , DeFazio Anna , Karapetis Chris S. , Wilcken Nicholas , Singh Madhu , Steer Christopher , Gao Bo , Warren Mark , Collins Ian M. , Karanth Narayan , Bryant Cindy , Schofield Penelope 
Published: July 2022

Abstract

Objective
This study aimed to determine the healthcare experiences, quality of life, and psychosocial needs of patients with cancer of unknown primary (CUP) early after diagnosis; comparing their experiences to patients with advanced cancer of a known primary (non-CUP control patients) and published general population reference data where available.

Methods
This study was a cross-sectional, multi-site study comparing CUP patients (n = 139) compared to non-CUP controls (n = 45). Demographic, clinical information and patient-reported outcome questionnaire data were collected at baseline.

Results
Differences in healthcare experienced were found between CUP and non-CUP controls with CUP patients reporting higher scores for unmet medical communication/information needs compared with non-CUP control patients (p = 0.013) as well as greater uncertainty in illness (p = 0.042). Whilst no differences were found between CUP and non-CUP controls on the EORTC and PROMIS measures, of those that ‘received written information about your cancer…’ and asked ‘…how useful was it?’ fewer CUP patients reported finding the information useful 40% vs 61%, and more were likely to not have received written information at all 59% vs 32%; (p = 0.002). Additionally, of those that found information about their cancer online, fewer patients with CUP reported finding it useful 32% vs 48% control patients (p = 0.005).

Conclusions
CUP patients have unmet medical communication/information needs and greater uncertainty in illness but do not differ in health-related quality of life domains compared to patients with advanced cancer of a known primary.
Return of comprehensive tumour genomic profiling results to advanced cancer patients: a qualitative study
Authors: Best Megan C. , Bartley Nicci , Napier Christine E. , Fisher Alana , Ballinger Mandy L. , Thomas David M. , Goldstein David , Tucker Katherine , Biesecker Barbara B. , Butow Phyllis 
Published: July 2022

Abstract
Purpose
The introduction of comprehensive tumour genomic profiling (CGP) into clinical oncology allows the identification of molecular therapeutic targets. However, the potential complexity of genomic results and their implications may cause confusion and distress for patients undergoing CGP. We investigated the experience of advanced cancer patients receiving CGP results in a research setting.

Methods
Semi-structured interviews with 37 advanced cancer patients were conducted within two weeks of patients receiving CGP results. Interviewees were purposively sampled based on CGP result, cancer type, age and gender to ensure diversity. Themes were derived from interview transcripts using a framework analysis approach.

Results
We identified six themes: (1) hoping against the odds; (2) managing expectations; (3) understanding is cursory; (4) communication of results is cursory; (5) genomics and incurable cancer; and (6) decisions about treatment.

Conclusion
Despite enthusiasm regarding CGP about the hope it provides for new treatments, participants experienced challenges in understanding results, and acceptance of identified treatments was not automatic. Support is needed for patients undergoing CGP to understand the implications of testing and cope with non-actionable results.
Class binarization to neuroevolution for multiclass classification
Authors: Lan Gongjin , Gao Zhenyu , Tong Lingyao , Liu Ting 
Published: July 2022

AbstractMulticlass classification is a fundamental and challenging task in machine learning. The existing techniques of multiclass classification can be categorized as (1) decomposition into binary (2) extension from binary and (3) hierarchical classification. Decomposing multiclass classification into a set of binary classifications that can be efficiently solved by using binary classifiers, called class binarization, which is a popular technique for multiclass classification. Neuroevolution, a general and powerful technique for evolving the structure and weights of neural networks, has been successfully applied to binary classification. In this paper, we apply class binarization techniques to a neuroevolution algorithm, NeuroEvolution of Augmenting Topologies (NEAT), that are used to generate neural networks for multiclass classification. We propose a new method that applies Error-Correcting Output Codes (ECOC) to design the class binarization strategies on the neuroevolution for multiclass classification. The ECOC strategies are compared with the class binarization strategies of One-vs-One and One-vs-All on three well-known datasets of Digit, Satellite, and Ecoli. We analyse their performance from four aspects of multiclass classification degradation, accuracy, evolutionary efficiency, and robustness. The results show that the NEAT with ECOC performs high accuracy with low variance. Specifically, it shows significant benefits in a flexible number of binary classifiers and strong robustness.
Triaxial Deformation of the Goldwyer Gas Shale at In Situ Stress Conditions—Part I: Anisotropy of Elastic and Mechanical Properties
Authors: Mandal Partha Pratim , Sarout Joel , Rezaee Reza 
Published: July 2022

AbstractThe evolution of shale’s mechanical properties with confining pressure, temperature, and mineral composition directly influences fracture closure besides the effect of in situ stress variation across lithologies. We are the first to perform experimental study to characterize the mechanical properties of the Goldwyer gas shale formation located in the Canning Basin, Western Australia. We have performed constant strain rate multistage triaxial tests at in situ stress condition (confining pressure ≤ 22 MPa) on 15 samples of the Goldwyer gas shales with variable minerology, organic content, and heterogeneity. Deformation tests were conducted at room temperature and in drained conditions on cylindrical samples cored parallel (horizontal) and perpendicular (vertical) to the bedding plane. Both triaxial compressive strength (σTCS) and static young’s modulus E show a strong sensitivity to confining pressure and mineralogy, while only E shows a directional dependency, i.e., Eh > Ev. The internal friction coefficient µi in a plane parallel to the bedding is 0.72 ± 0.12, while it is only 0.58 ± 0.17 in the orthogonal direction. Both σTCS and E are significantly lower when larger fractions of weak mineral constituents are present (clays or organic matter). We observe that the Young’s modulus of most vertical samples is best approximated by Reuss’s bound, whereas that of horizontal samples is best approximated by Hill’s average of Voigt and Reuss bounds. The most prospective G-III unit of the Goldwyer shale formation (depth > 1510 m) is semi-brittle to brittle, making it suitable for future development.
Human tissue lead (Pb) levels and amyotrophic lateral sclerosis: a systematic review and meta-analysis of case–control studies
Authors: Farace Cristiano , Fiorito Giovanni , Pisano Andrea , Etzi Federica , Sabalic Angela , Fenu Grazia , Asara Yolande , Solinas Giuliana , Madeddu Roberto 
Published: July 2022

Abstract

Aim
To combine the current scientific literature evidence and elucidate the differences of lead (Pb) bioaccumulation in human tissues by comparing amyotrophic lateral sclerosis (ALS) patients and healthy controls.

Methods
We systematically searched for case–control studies on the association of Pb levels with ALS, in human cells, tissues, and body fluids (nervous tissue, muscle, blood, cerebrospinal fluid, urine, skin appendages). Then, we performed a meta-analysis for all the tissues in which at least five case–control studies were available: whole blood (9 studies), serum/plasma (5 studies), and cerebrospinal fluid (CSF) (6 studies). Differences between cases and controls were evaluated using standardized mean difference, and combined estimates were derived using random effect maximum likelihood (REML) meta-analyses.

Results
Among 1734 records, we identified 46 full-text studies, of which 14 case–control studies met the meta-analysis inclusion criteria. We found higher Pb levels in ALS cases than controls in blood (standardized mean difference (SMD) = 0.61; 95% confidence interval (CI) 0.20, 1.01; p = 0.003), plasma/serum (SMD = 0.27; 95% CI − 0.16, 0.70; p = 0.26), and CSF (SMD = 0.53; 95% CI − 0.09, 1.15; p = 0.09).

Conclusions
This work provides further evidence of the association between Pb bioaccumulation and ALS in body fluids. The lack of association studies in solid tissues did not allow a robust meta-analysis. Future prospective studies are needed to clarify the causality in the association of Pb bioaccumulation with ALS.
Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome
Authors: Pavone Piero , Pappalardo Xena Giada , Mustafa Naira , Falsaperla Raffaele , Marino Simona Domenica , Corsello Giovanni , Bianca Sebastiano , Parano Enrico , Ruggieri Martino 
Published: July 2022

Abstract
Background
The BUB 1 mitotic checkpoint serine/threonine kinase B (BUB1B) gene encodes a key protein in the mitotic spindle checkpoint, which acts as a surveillance mechanism, crucial for the maintenance of the correct chromosome number during cell deviation. Mutations of BUB1B gene are linked to mosaic variegated aneuploidy 1 (MVA1) syndrome, a rare autosomal recessive disorder characterized by widespread mosaic aneuploidies, involving different chromosomes and tissues. MVA1 is clinically characterized by intrauterine growth restriction, post-natal growth retardation, and severe neurologic impairment including microcephaly, developmental delay/intellectual disability, epileptic seizures, and generalized hypotonia. Malignancies are also serious sequelae associated with the disorder. We reported on a case of two-year-old Italian girl with MVA1 who shows severe neurologic impairment, microcephaly and epileptic seizures.

Materials and methods
Clinical data collection and genetic diagnosis of the patient were assessed. Mutational analysis covers the chromosomal microarray analysis, the gene methylation pattern studied using the methylation-specific multiplex ligation-dependent probe amplification, and the family-based Whole Exome Sequencing (WES). A literature research based on reported cases of MVA and premature chromatid separation was also included.

Results
Karyotyping has revealed 12% of mosaics in the patient who carries a novel variant in BUB1B gene (c.2679A > T, p.Arg893Ser) detected by WES. Thirty-one cases of MVA1 including the present report, and four prenatally diagnosed cases with MVA1 were selected and inspected.

Conclusion
Clinical and genetic findings reported in the girl strongly suggest a new MVA1 genotype–phenotype correlation and lead to a reappraisal of a severe syndrome. Diagnosis and in-depth follow-up provided worthwhile data.
A modelling-chain linking climate science and decision-makers for future urban flood management in West Africa
Authors: Miller James D. , Vischel Theo , Fowe Tazen , Panthou Geremy , Wilcox Catherine , Taylor Christopher M. , Visman Emma , Coulibaly Gnenakantanhan , Gonzalez Pepo , Body Richard , Vesuviano Gianni , Bouvier Christophe , Chahinian Nanee , Cazenave Frédéric 
Published: July 2022

Abstract
Intensification of the hydrological cycle resulting from climate change in West Africa poses significant risks for the region’s rapidly urbanising cities, but limited research on flood risk has been undertaken at the urban domain scale. Furthermore, conventional climate models are unable to realistically represent the type of intense storms which dominate the West African monsoon. This paper presents a decision-first framing of climate research in co-production of a climate-hydrology-flooding modelling chain, linking scientists working on state-of-the-art regional climate science with decision-makers involved in city planning for future urban flood management in the city of Ouagadougou, Burkina Faso. The realistic convection-permitting model over Africa (CP4A) is applied at the urban scale for the first time and data suggest significant intensification of high-impact weather events and demonstrate the importance of considering the spatio-temporal scales in CP4A. Hydrological modelling and hydraulic modelling indicate increases in peak flows and flood extents in Ouagadougou in response to climate change which will be further exacerbated by future urbanisation. Advances in decision-makers’ capability for using climate information within Ouagadougou were observed, and key recommendations applicable to other regional urban areas are made. This study provides proof of concept that a decision-first modelling-chain provides a methodology for co-producing climate information that can, to some extent, bridge the usability gap between what scientists think is useful and what decision-makers need.