Miracle-dz/UniFAR-FTUs huggingface dataset:
DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis

The group of disorders known as 46,XY gonadal dysgenesis (GD) is characterized by anomalies in testis determination, including complete and partial GD (PGD) and testicular regression syndrome (TRS). Several genes are known to be involved in sex development pathways, however approximately 50% of all cases remain elusive. Recent studies have identified variants in DHX37, a gene encoding a putative RNA helicase essential in ribosome biogenesis and previously associated with neurodevelopmental disorders, as a cause of PGD and TRS. To investigate the potential role of DHX37 in disorders of sexual development (DSD), 25 individuals with 46,XY DSD were analyzed and putative pathogenic variants were found in four of them. WES analyses were performed on these patients. In DHX37, the variant p.(Arg308Gln), recurrent associated with DSD, was identified in one patient; the p.(Leu467Val), predicted to be deleterious, was found together with an NR5A1 loss-of-function variant in patient 2; and, the p.(Val999Met) was identified in two unrelated patients, one of whom (patient 3) also carried a pathogenic NR5A1 variant. For both patients carrying DHX37 and NR5A1 pathogenic variants, a digenic inheritance is suggested. Our findings support the importance of DHX37 variants as a cause of disorders of sex development, implying a role in testis development.
Dispersion control of helical slow-wave structure by double-negative metamaterial loading

Abstract A helix supported by a double-negative metamaterial (DNG-MMT) surrounding it, in a metal envelope, was field-analyzed to show that the shape of the dispersion is more sensitive to the value of the relative permittivity of the metamaterial (MMT) than that of its relative permeability. The field analysis was validated against equivalent circuit analysis as well as against simulation. The values of the MMT support parameters were adjusted to obtain nearly flat, rather slightly negative, dispersion characteristics together with a high value of the interaction impedance of the structure as required for a wideband traveling-wave amplifier. Unlike in a conventional traveling-wave tube, the flow of power of RF wave supported by DNG-MMT loaded helix was found to be in a direction opposite to that of the RF phase velocity of the wave supported by the structure resulting in a negative value of the interaction impedance of the structure suggesting that the device using a helix with double-negative MMT supports would operate in the backward-wave mode analogously to a reversed Cherenkov amplifier.
A Power Control-Aided Q-Learning-Based Routing Protocol for Optical-Acoustic Hybrid Underwater Sensor Networks

Underwater optical-acoustic hybrid networking can complement the advantages of both underwater wireless optical and acoustic communications, which holds great development prospects. This paper designs a novel and feasible underwater optical-acoustic hybrid sensor network topology, which fully considers the differences between underwater sound and light communication systems. Following this network topology, an adaptive and green power control aided routing protocol is proposed, mainly including two stages: the power control and the packet forwarding. These two procedures employ potential game theory and ${Q}$ -learning technique respectively, making each node adjust its transmitted power and forward packets in an adaptive and distributed manner with energy efficiency, packet advancement, and network connectivity as the optimization goals. According to the simulation results, the proposed power control and packet forwarding algorithms are of reasonable complexity and convergence speed, and adding the power control before the packet forwarding can achieve better routing performance. Compared with relevant routing protocols, the designed protocol has significant advantages in energy efficiency, end-to-end delay, and network lifetime.
Dual Consistency-Enhanced Semi-Supervised Sentiment Analysis Towards COVID-19 Tweets

In the context of COVID-19, numerous people present their opinions through social networks. It is thus highly desired to conduct sentiment analysis towards COVID-19 tweets to learn the public's attitudes, and facilitate the government to make proper guidelines for avoiding the social unrest. Although many efforts have studied the text-based sentiment classification from various domains (e.g., delivery and shopping reviews), it is hard to directly use these classifiers for the sentiment analysis towards COVID-19 tweets due to the domain gap. In fact, developing the sentiment classifier for COVID-19 tweets is mainly challenged by the limited annotated training dataset, as well as the diverse and informal expressions of user-generated posts. To address these challenges, we construct a large-scale COVID-19 dataset from Weibo and propose a dual COnsistency-enhanced semi-superVIseD network for Sentiment Anlaysis (COVID-SA). In particular, we first introduce a knowledge-based augmentation method to augment data and enhance the model's robustness. We then employ BERT as the text encoder backbone for both labeled data, unlabeled data, and augmented data. Moreover, we propose a dual consistency (i.e., label-oriented consistency and instance-oriented consistency) regularization to promote the model performance. Extensive experiments on our self-constructed dataset and three public datasets show the superiority of COVID-SA over state-of-the-art baselines on various applications.
The Transverse Vibration and Stability Analysis of an Axially Moving Membrane

The mathematics model and differential equation of motion for the transverse vibration and stability problems of an axially moving rectangular membrane are established.The complex frequency equation of an axially moving rectangular membrane with four fixed edges is derived by analytical method.In the case of constant axially moving membrane,the relationships between the real part and imaginary part of complex frequency and the axially moving speed as well as the critical speed are discussed.
The effect of causal parameter bounds in PSHA‐based ground motion selection

In this paper the effect of causal parameter bounds (e.g. magnitude, source‐to‐site distance, and site condition) on ground motion selection, based on probabilistic seismic hazard analysis (PSHA) results, is investigated. Despite the prevalent application of causal parameter bounds in ground motion selection, present literature on the topic is cast in the context of a scenario earthquake of interest, and thus specific bounds for use in ground motion selection based on PSHA, and the implications of such bounds, is yet to be examined. Thirty‐six PSHA cases, which cover a wide range of causal rupture deaggregation distributions and site conditions, are considered to empirically investigate the effects of various causal parameter bounds on the characteristics of selected ground motions based on the generalized conditional intensity measure (GCIM) approach. It is demonstrated that the application of relatively ‘wide’ bounds on causal parameters effectively removes ground motions with drastically different characteristics with respect to the target seismic hazard and results in an improved representation of the target causal parameters. In contrast, the use of excessively ‘narrow’ bounds can lead to ground motion ensembles with a poor representation of the target intensity measure distributions, typically as a result of an insufficient number of prospective ground motions. Quantitative criteria for specifying bounds for general PSHA cases are provided, which are expected to be sufficient in the majority of problems encountered in ground motion selection for seismic demand analyses. Copyright © 2016 John Wiley & Sons, Ltd.
Extended Finite Element Method: Theory and Applications

Introduces the theory and applications of the extended finite element method (XFEM) in the linear and nonlinear problems of continua, structures and geomechanics • Explores the concept of partition of unity, various enrichment functions, and fundamentals of XFEM formulation. • Covers numerous applications of XFEM including fracture mechanics, large deformation, plasticity, multiphase flow, hydraulic fracturing and contact problems • Accompanied by a website hosting source code and examples
Bayesian and Classical Analysis of Poisson Regression

SUMMARY This paper is concerned with the problem of testing the existence of a trend in the means Gi of Poisson distributions. It is assumed that these means are changing exponentially, that is, log Gi = ci+/x2. A classical method is reviewed which is used for testing the hypothesis P = 0. The exact Bayesian distribution for P is derived and a Bayesian approximation suggested which proved to be very useful. Finally, a comparison of these three methods by means of numerical examples is made.
Shaping ability of WaveOne Gold and OneReci by using two apical sizes: a micro-computed tomographic assessment

Backround OneReci (MicroMega, Besançon, France) is a recently introduced single-file reciprocating system with scarce information revealed on its shaping ability. This study aimed to compare the shaping abilities of OneReci and a well-documented single-file reciprocating system WaveOne Gold (WOG; Dentsply Maillefer, Ballaigues, Switzerland) and evaluate the effect of increased apical enlargement on the preparation quality, using micro-computed tomography (micro-CT). Methods After an initial micro-CT scanning, twenty mesial root canals of mandibular molars were anatomically matched. The canals were assigned to two experimental groups (n = 10), using OneReci or WOG in different canals of the same root. The glide paths were created, and root canals were prepared twice, using size 25 and 35 instruments of the systems, respectively. The specimens were scanned with micro-CT after each preparation. The increase in canal volume, amount of dentin removal, unprepared root canal surface, canal transportation, centering ratio and preparation times were assessed. The data were analysed with independent sample t-tests, variance analyses, Friedman and Mann-Whitney U tests. The significance level was set at 5%. Results Each preparation increased the canal volume and dentin removal while decreasing the unprepared root surface. The difference between the systems became significant after preparation with size 35 instruments (p < 0.05). Regarding canal transportation and centering ratio, the difference was insignificant (p > 0.05). The first preparation step (glide path + size 25 instrument) was significantly faster in the OneReci group (p < 0.05). Conclusions Preparation with size 25 instruments of the systems appeared to be safe with similar shaping performances. Larger apical preparation promoted significantly higher dentin removal, volume increase, and prepared surface area in WOG.
Effect of solid‐state fermentation on select antinutrients and protein digestibility of cold‐pressed and hexane‐extracted canola meals

In this study, the effects of solid-state fermentation (SSF), including strain (Aspergillus niger NRRL 334 and A. oryzae NRRL 5590) and fermentation time (24, 48, and 72 h) on the nutritional value of cold-pressed (CP) and hexane-extracted (HE) canola meals were examined. SSF increased the protein content of both types of meals (from ̃36 to ̃40%) while reducing the oil content of CP meals (from ̃12 to 9%). There was a significant reduction ( ̃80%) in the phytic acid content of both types of meals after fermentation using either fungi. Overall, fermented samples showed a decrease in the total phenolic content from 2.7-3.1 to ̃1.0 mg gallic acid equivalents (GAE)/g DM (a ̃65% reduction), of which specifically the HE meal fermented with A. niger sample had the greatest decrease from 3.1 to 0.6 mg GAE/g DM ( ̃81% reduction). Seventy-two hours of fermentation decreased the in vitro protein digestibility (IVPD) of the meals. In contrast, a shorter fermentation time (24 h) increased the IVPD as compared to the controls (from ̃73% to 77-81%), with the exception of the CP meal fermented with A. niger which had decreased IVPD at all fermentation times. Overall, the changes indicate that SSF using A. niger or A. oryzae can be useful to positively modify the composition of different canola meals and improve their nutritional value by significantly increasing the protein content, decreasing the levels of antinutrients, while only slightly reducing IVPD. Effect of solid-state fermentation on select antinutrients and protein digestibility of coldpressed and hexane-extracted canola meals Chenghao Li, Dai Shi, Andrea K. Stone, YiXiao Wang, Janitha P. D. Wanasundara, Takuji Tanaka, and Michael T. Nickerson* Department of Food and Bioproduct Sciences, University of Saskatchewan, 51 Campus Drive, Saskatoon, SK, S7N 5A8, Canada Agriculture and Agri-food Canada – Saskatoon Research Station, 107 Science Pl, Saskatoon, SK, S7N 0X2, Canada *Correspondence Michael Nickerson, Department of Food and Bioproduct Sciences, University of Saskatchewan, 51 Campus Drive, Saskatoon, SK, S7N 5A8, Canada Email: Michael.Nickerson@usask.ca Short running title: Nutrition of fermented canola meals
Phenomenological studies of top quark production in the forward region of phase space at the LHC

This thesis contains phenomenological studies of top quark production in the forward region of phase space at the Large Hadron Collider (LHC). The production of highly forward top quarks has so far not been observed in nature. As the LHCb detector at the LHC is instrumented in the forward region, this opens the possibility of studying top quark properties in this yet unexplored region of phase space. This feasibility of performing cross section and charge asymmetry measurements of top quark pairs with available and future LHCb data is studied in detail. In both cases, potential analysis strategies are proposed, and sophisticated theoretical predictions are provided for both signal and background. By studying the expected experimental sensitivity of cross section measurements, the potential constraints on parton distribution functions is quantified. The sensitivity of the proposed charge asymmetry measurements with the full Run II LHCb data is also considered. To Isabel, for your continued love and support. Thank you for always being there for me, and for making me happy.
“Temporomandibular hypermobility as a sequelae of generalized joint hypermobility in temporomandibular disorders: a pilot study”

Dr. Karthik Hegde (MDS) 1 , Dr. Nidhi Mishra 2 , Dr. Preeti Nair (MDS) 3 , *Dr. Himangi Srivastava 2 , Dr. Harshkant Gharote (MDS) 4 , Dr. Rajul Jain 2 . 1. Reader, Department of Oral Medicine and Radiology, People’s College of Dental Sciences, Bhopal, India. 2. Post Graduate Student, Department of Oral Medicine and Radiology, People’s College of Dental Sciences, Bhopal, India. 3. Professor and Head, Department of Oral Medicine and Radiology, People’s College of Dental Sciences, Bhopal, India. 4. Professor, Department of Oral Medicine and Radiology, People’s College of Dental Sciences, Bhopal, India.
Characterizing methane emissions from orphaned coalbed methane wells in the powder river basin

In 2018, the U.S. EPA Greenhouse Gas Inventory (GHGI) began including methane emissions from abandoned oil and gas (AOG) wells and estimated that they may constitute up to 4% of total methane emissions from the oil and gas sector. Several studies have shown that these emissions vary by location which introduces regionally dependent uncertainty into inventory estimates. In Wyoming, there are over 1000 wells identified as ‘orphaned’ indicating that they are both abandoned and unplugged, approximately 80% of which are coalbed methane (CBM) wells. In this pilot study, 3-hour measurements of ten orphaned CBM wells were taken to support the characterization of AOG well emission rates in the Powder River Basin (PRB) in Wyoming. The mean methane emission rate measured at these wells was 653 mg CH4/hr with the majority of these wells emitting in the 100-1000mg CH4/hr range. The highest emitting well in the study was measured at 4.53 g CH4/hr. Compared to the GHGI AOG wells emission factor of 10.04 g CH4/hr, these findings suggest that AOG wells emission rate in the PRB are overestimated by national inventory methods. Finally, the addition of AOG well emissions data from this study doubles the number of sampled AOG wells in Wyoming and triples the number of sampled CBM wells in the U.S.
Shedder status—An analysis over time and assessment of various contributing factors

The shedder status of a person is an important consideration when evaluating probabilities of DNA transfer during activity‐level assessments. As an extension of our previously published study, the shedder statuses of 38 individuals were reassessed 1 year later. The study found that shedder status may change over time for some individuals and was associated with one's gender, number of items touched, and mobile phone usage. In 29% of touch events, no DNA allele was detected and in 99% of touch events, the amount of DNA deposited was <2 ng. The study also found that in 0.6% of touch events, the participant could be excluded as a contributor of the observed DNA profile, with another person being included. Additionally, our investigations suggest that the current three‐category system for shedder status classification may require further refinement to better represent the individuals' shedder status in a population.
Clinical Leadership – An Important Precondition for the Success of Proactive and Interdisciplinary Follow-up of Frail Older Recipients of Home Healthcare

Early identification and follow-up of sub-acute and acute functional decline in older persons living with multimorbidity at home require integrated and proactive care by interdisciplinary health personnel. Yet, in the context of the task-oriented and fragmented home healthcare services, early identification is challenging. Therefore, the aim of this study was to identify preconditions for the success of a proactive and interdisciplinary follow-up of older recipients of home healthcare. We conducted a qualitative secondary analysis of data from 6 focus group interviews with registered nurses and nurse leaders. In addition, we performed and analyzed data from 2 new focus group interviews with general practitioners and RNs who had a role as super users in a developmental project which introduced a clinical instrument for early identification of sub-acute and acute functional decline (sub-acute functional decline in the elderly—SAFE). Their experiences with using SAFE constituted the backdrop for the study. In total, 41 representatives of the interprofessional primary care staff of 3 city districts participated. Having a common goal, sharing tasks and having reciprocal understanding of each health profession’s contribution, systems and tools and clinical leadership were all seen as important factors for succeeding in the proactive and interdisciplinary follow-up of older recipients of home healthcare. Clinical leadership was deemed the strongest precondition, and clear leadership which promotes integrative and proactive care by facilitating interdisciplinary collaboration appears to be the main key for success.
Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies

Non-invasive prenatal screening (NIPS) in twin gestations has been shown to have high detection rates and low false-positive rates for trisomy 21, as seen in singleton pregnancies, although there have been few large cohort twin studies, genome-wide studies in particular, to date. In this study, we looked at the performance of genome-wide NIPT in a large cohort consisting of 1244 twin pregnancy samples collected over a two-year period in a single laboratory in Italy. All samples underwent an NIPS for common trisomies, with 61.5% of study participants choosing to undergo genome-wide NIPS for additional fetal anomalies (namely, rare autosomal aneuploidies and CNVs). There were nine initial no-call results, all of which were resolved upon retest. Based on our NIPS results, 17 samples were at high risk for trisomy 21, one for trisomy 18, six for a rare autosomal aneuploidy, and four for a CNV. Clinical follow-up was available for 27 out of 29 high-risk cases; a sensitivity of 100%, a specificity of 99.9%, and a PPV of 94.4% were noted for trisomy 21. Clinical follow-up was also available for 1110 (96.6%) of the low-risk cases, all of which were true negatives. In conclusion, we found that NIPS was a reliable screening approach for trisomy 21 in twin pregnancies.
Which phonons contribute most to negative thermal expansion in ScF3?

Using calculations of the phonon distribution in ScF3 across the whole of reciprocal space, we show that the important phonons for the negative thermal expansion in this material are those associated with the rigid unit modes (RUMs) and associated quasi-RUMs. We discuss the role of the bond-bending flexibility within the ScF6 octahedra, and how this enables other phonons to make an additional but ultimately much weaker contribution to negative thermal expansion. These results inform recent discussions on the role of correlated atomic motions in giving rise to negative thermal expansion in ScF3.
On the constrained error bound condition and the projected Levenberg–Marquardt method

In this paper, we first derive a characterization of the solution set of a continuously differentiable system of equations subject to a closed feasible set. Assuming that a constrained local error bound condition is satisfied, we prove that the solution set can locally be written as the intersection of a differentiable manifold with the feasible set. Based on the derivation of this result, we then show that the projected Levenberg–Marquardt method converges locally R-linearly to a possibly nonisolated solution under significantly weaker conditions than previously done.
Problematising ‘Fused Principles’ in Discourses of Preventative Social Care: Interpreting the Implementation of National Social Services Legislation in Wales, UK

Prevention is a core principle in social care legislation across the UK. However, history shows great variability in how a preventative social care agenda is conceptualised and implemented. We report findings from an independent evaluation of the implementation of the ‘2014 Social Services and Well-being (Wales) Act’ incorporating a document analysis of reports and plans from Wales’ twenty-two local authorities (LAs) and eighty-eight qualitative interviews from social services strategic leaders and operational managers within four Welsh LAs. Analysis highlighted multiple interpretations of national policy, with notable overlapping agendas. In Gramscian terms, there is a constant process of negotiating prevention values and agendas, with consequences for whose interests are served. This was apparent through drives towards cost-saving, financial sustainability and reduced service demand operating alongside values-based principles rooted in well-being and mutualism. Following Kenny’s work in community development, we argue a ‘fusing’ of principles whilst espousing benefits for service users, potentially blurs the aims of the legislation, with implications for practice.