Previous Analyses Research Articles

An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion.

Primary: Establish a new figure for prevalence at birth for Pompe disease by collecting and analyzing the largest relevant dataset to date and using that result to project population prevalence at birth in a novel way. Secondary: Compare these results to previous analyses to offer a framework for evaluating 'frequency' data that can be applied to other rare, genetic diseases, along with methods to assess quality of estimates.

Equivalent thin-layer temperature field model (ETTM) for bolted rotors to describe interface temperature jump

Improving the accuracy and efficiency of predicting the temperature field is a crucial requirement for iteratively calculating and online monitoring the temperature field, particularly for combined structures. The heat flow movement is impeded by incomplete interface contact, resulting in a temperature jump. To address this, the equivalent thin-layer temperature field model (ETTM) is proposed to replace the interface thermal contact conductance (TCC) model. Firstly, the fractal TCC model of a bolt connection is derived based on fractal geometry. Subsequently, the contact surface of the circumferential bolt connection is considered to be the parallel connection of multiple bolt thermal resistances. The TCC of the equivalent thin-layer is obtained. Building on this, the ETTM of the built-up rotor structure is developed. Finally, a temperature field model of the bolted rotor is derived. The validity of models is verified by comparing the model proposed in this paper with the previous research findings and ANSYS analysis results. Numerical simulation results reveal that TCC is influenced by several factors: contact pressure, the nominal contact area within the fractal domain, fractal dimension, fractal roughness, and the root mean square (RMS) height. Furthermore, the effects of the thickness of the thin layer model and the thermal conductivity of the material on heat transfer are examined. Ultimately, the findings indicate that heat transfer at the interface is significantly impeded by thermal contact resistance across various temperature boundary conditions. Notably, lower contact pressure intensifies this impedance.

Two-to-three times increase in natural hip and lumbar non-sagittal plane kinematics can lead to anterior cruciate ligament injury and cartilage failure scenarios during single-leg landings

BackgroundAnalyzing sports injuries is essential to mitigate risk for injury, but inherently challenging using in vivo approaches. Computational modeling is a powerful engineering tool used to access biomechanical information on tissue failure that cannot be obtained otherwise using traditional motion capture techniques. MethodsWe extrapolated high-risk kinematics associated with ACL strain and cartilage load and stress from a previous motion analysis of 14 uninjured participants. Computational simulations were used to induce ACL failure strain and cartilage failure load, stress, and contact pressure in two age- and BMI-matched participants, one of each biological sex, during single-leg cross drop and single-leg drop tasks. The high-risk kinematics were exaggerated in 20% intervals, within their physiological range of motion, to determine if injury occurred in the models. Where injury occurred, we reported the kinematic profiles that led to tissue failure. FindingsOur findings revealed ACL strains up to 9.99%, consistent with reported failure values in existing literature. Cartilage failure was observed in all eight analyzed conditions when increasing each high-risk kinematic parameter by 2.61 ± 0.67 times the participants' natural landing values. The kinematics associated with tissue failure included peak hip internal rotation of 22.48 ± 19.04°, peak hip abduction of 22.51 ± 9.09°, and peak lumbar rotation away from the stance limb of 11.56 ± 9.78°. InterpretationOur results support the ability of previously reported high-risk kinematics in the literature to induce injury and add to the literature by reporting extreme motion limits leading to injurious cases. Therefore, training programs able to modify these motions during single-leg landings may reduce the risk of ACL injury and cartilage trauma.

A discretizing Tikhonov regularization method via modified parameter choice rules

Abstract In this paper, we propose two parameter choice rules for the discretizing Tikhonov regularization via multiscale Galerkin projection for solving linear ill-posed integral equations. In contrast to previous theoretical analyses, we introduce a new concept called the projection noise level to obtain error estimates for the approximate solutions. This concept allows us to assess how noise levels change during projection. The balance principle and Hanke–Raus rule are modified by incorporating the error estimates of the projection noise level. We demonstrate the convergence rate of these two modified parameter choice rules through rigorous proof. In addition, we find that the error between the approximate solution and the exact solution improves as the noise frequency increases. Finally, numerical experiments are provided to illustrate the theoretical findings presented in this paper.

The Impact of Social Settings on Loss Aversion

With the continuous development of society, the demand for communication in social settings has been steadily increasing in people's daily lives, leading to increasingly complex interpersonal relationships. Numerous studies have indicated that the expansion of interpersonal relationships influences the degree of individual loss aversion. Therefore, based on existing literature, we hypothesized that the social environment may have an impact on the level of loss aversion. To test our hypothesis, we conducted a questionnaire survey (N=157). We used grades and monetary variables as independent variables and assessed participants' levels of loss aversion through a scoring system. Our data analysis revealed that individuals are more likely to exhibit loss aversion in isolated environments compared to when they are in social settings. Furthermore, based on a review of previous research and data analysis, we speculate that a collectivist cultural background may be a significant factor contributing to these findings. Additionally, in cultures and regions where individualism prevails, individuals may be more inclined to exhibit loss aversion in social situations.

Analytical solution of Tunnel-Soil-Tunnel (TST) interaction under seismic excitation

ABSTRACT This research proposes the analytical formulations for the vertically aligned twin tunnels under the sinusoidal form of seismic excitation in the case of the damped free vibration. The analytical formulae are derived to calculate the interactive tunnel moment, tunnel shear force and soil pressure for the transverse horizontal shear (SH), vertical shear (SV) and body (P) waves. For the derivation of the analytical formulations, the twin tunnels are assumed as beam elements connected by the linear elastic springs. The tunnel-soil-tunnel (TST) interaction model is verified by the previous analytical solution and numerical analysis of the case studies. The ranges of the difference in results between the present research and the previous analytical solution are found to be (3.8 ~ 8.1) %, (6.73 ~ 10.95) % and (2.3 ~ 11.79) % in the case of the SH, SV and P waves, respectively. These differences may represent good agreement about verifications.

Research on the Evolution Network Model of the Landslide Disaster Chain: A Case Study of the Baige Landslide

In the context of Western China’s unique geography, recurrent landslide disasters pose substantial threats to both resident safety and economic stability. The escalating frequency of these incidents emphasizes the critical need for innovative disaster research, particularly focused on the concept of a disaster chain. This research aims to enhance disaster preparedness and management strategies with the ultimate goal of minimizing losses. On the basis of predecessors, this study changes the previous analysis forms of single or partial disaster events, innovatively collects all secondary disaster events derived from the landslide disaster chain, and builds an evolutionary network model. In concrete terms, our study concentrates on the Baige landslide within the Qinghai-Tibet Plateau, pinpointing sub-hazard events as crucial disaster nodes within the landslide. By establishing directed connections, we have developed a comprehensive landslide disaster chain evolution network model firmly grounded in the principles of disaster chain dynamics and complex network theory. This model encompasses 31 distinct disaster nodes and 77 connecting edges. To assess the inherent risks in the landslide catastrophe chain, we conducted a thorough analysis considering node access degree and clustering coefficients. Critical nodes driving economic losses, such as floods, debris flows, secondary landslides, and downstream water damage, were identified. Additionally, we isolated vulnerable connections within the evolving network, evaluating the susceptibility of each edge. Our research underscores the significance of proactive measures, including pre-disaster monitoring, early warning systems, and timely post-disaster information dissemination. Implementing these actions can play a pivotal role in mitigating the impact of landslide disasters, preserving lives and sustaining regional prosperity.

Determination of the Copy Number of Porcine Endogenous Retroviruses (PERV) in Auckland Island Pigs Repeatedly Used for Clinical Xenotransplantation and Elimination of PERV-C.

Auckland Island pigs represent an inbred population of feral pigs isolated on the sub-Antarctic island for over 100 years. The animals have been maintained under pathogen-free conditions in New Zealand; they are well characterized virologically and have been used as donor sources in first clinical trials of porcine neonatal islet cell transplantation for the treatment of human diabetes patients. The animals do not carry any of the xenotransplantation-relevant viruses, and in the first clinical trials, no porcine viruses, including porcine endogenous retroviruses (PERVs) were transmitted to the human recipients. PERVs pose a special risk in xenotransplantation, since they are part of the pig genome. When the copy number of PERVs in these animals was analyzed using droplet digital PCR and primers binding to a conserved region of the polymerase gene (PERVpol), a copy number typical for Western pigs was found. This confirms previous phylogenetic analyses of microsatellites as well as mitochondrial analyses showing a closer relationship to European pigs than to Chinese pigs. When kidney cells from very young piglets were analyzed, only around 20 PERVpol copies were detected. Using these cells as donors in somatic cell nuclear transfer (SCNT), animals were born showing PERVpol copy numbers between 35 and 56. These data indicate that Auckland Island pigs have a similar copy number in comparison with other Western pig breeds and that the copy number is higher in adult animals compared with cells from young piglets. Most importantly, PERV-C-free animals were selected and the absence of an additional eight porcine viruses was demonstrated.

Detectability of Single Spinless Stellar-Mass Black Holes through Gravitational Lensing of Gravitational Waves with Advanced LIGO.

We investigate the detectability of gravitational waves that have been lensed by a spinless stellar-mass black hole, with respect to the advanced LIGO. By solving the full relativistic linear wave equations in the spacetime of a Schwarzschild black hole, we find that the strong gravity can create unique signals in the lensed waveform, particularly during the merger and ring-down stages. The differences in terms of fitting factor between the lensed waveform and best-fitted unlensed general relativity template with spin precession and higher-order multipoles are greater than 5% for the lens black hole mass within 70M_{⊙}<M_{lens}<133.33M_{⊙} under advanced LIGO's sensitivity. This is up to 5 times more detectable than the previous analysis based on the weak field approximation for a point mass and covers most part of the black hole mass gap predicted by stellar evolution theory. Based on Bayesian inference, the lensing feature can be distinguished with a signal-to-noise ratio of 12.5 for M_{lens}=70M_{⊙} and 19.2 for M_{lens}=250M_{⊙}, which is attainable for advanced LIGO.

Magmatic priming of a phreatic eruption sequence: the 2012 Te Maari eruptions at Mt Tongariro (New Zealand) imaged by magnetotellurics and seismicity

SUMMARY Magnetotelluric data from Mount Tongariro have been analysed using an unstructured tetrahedral finite-element inversion code that incorporates topography, which was not included in previous analysis of these data. Incorporating topography adds information, which stabilizes the resistivity inversion modelling, and for the first time allows details of the shallow hydrothermal system and its relationship with the underlying magmatic system to be resolved. Specifically, an electrically conductive zone between 4 and 12.5 km depth marks the underlying magmatic system, which is shown to directly connect via conductive pathways to the area where the most recent phreatic eruptions at Tongariro occurred in 2012. The resultant phreatic eruptions in 2012 August and November showed no new magmatic component to the eruption deposits. Nevertheless, by combining the magnetotelluric resistivity image with relocated seismicity, we can see that seismicity (a proxy for magma ascent) migrated from the top of the magmatic system into the hydrothermal system in the months preceding these eruptions. Magmatic interaction with the extant hydrothermal system likely caused the over pressurization for the phreatic eruption. This work highlights the utility of combining geophysical methods and petrological data to constrain phreatic eruption processes.

Bridging Supervised and Unsupervised Learning to Build Volcano Seismicity Classifiers at Kilauea Volcano, Hawaii

Abstract Real-time classification of volcano seismicity could become a useful component in volcanic monitoring. Supervised learning provides a powerful means to achieve this but often requires a large amount of manually labeled data. Here, we build supervised learning models to discriminate volcano tectonic events (VTs), long-period events (LPs), and hybrid events in Kilauea by training with pseudolabels from unsupervised clustering. We test three different supervised models, and all of them achieve &amp;gt;93% accuracy. We apply the model ensemble to the six-day seismicity during the eruption in 2018 and show that they were mainly VTs (62%), in comparison with the dominance of LPs prior to the eruption (68%). The success of our method is aided by the accuracy of the majority of pseudolabels and the consistency of the three models’ performance. Using Shapley additive explanations, we show that the frequency contents at 1–4 Hz are the most important to differentiate volcano seismicity types. This work, together with our previous clustering analysis, provides an example of bridging unsupervised and supervised learning to construct potential real-time seismic classifiers from scratch.

A genus in the bacterial phylum Aquificota appears to be endemic to Aotearoa-New Zealand

Allopatric speciation has been difficult to examine among microorganisms, with prior reports of endemism restricted to sub-genus level taxa. Previous microbial community analysis via 16S rRNA gene sequencing of 925 geothermal springs from the Taupō Volcanic Zone (TVZ), Aotearoa-New Zealand, revealed widespread distribution and abundance of a single bacterial genus across 686 of these ecosystems (pH 1.2-9.6 and 17.4-99.8 °C). Here, we present evidence to suggest that this genus, Venenivibrio (phylum Aquificota), is endemic to Aotearoa-New Zealand. A specific environmental niche that increases habitat isolation was identified, with maximal read abundance of Venenivibrio occurring at pH 4-6, 50-70 °C, and low oxidation-reduction potentials. This was further highlighted by genomic and culture-based analyses of the only characterised species for the genus, Venenivibrio stagnispumantis CP.B2T, which confirmed a chemolithoautotrophic metabolism dependent on hydrogen oxidation. While similarity between Venenivibrio populations illustrated that dispersal is not limited across the TVZ, extensive amplicon, metagenomic, and phylogenomic analyses of global microbial communities from DNA sequence databases indicates Venenivibrio is geographically restricted to the Aotearoa-New Zealand archipelago. We conclude that geographic isolation, complemented by physicochemical constraints, has resulted in the establishment of an endemic bacterial genus.

Causative alternation in Zuo Tradition

Abstract This study examines the different variants of causative alternation in Zuo Tradition (左傳), an archaic Chinese narrative history from the Pre-Qin period. It is found that denominal verbs, unergative verbs, and “pure” unaccusative verbs participate actively in the alternation, and that the causative variant bears a complex relation with the agentive and putative variants; this causes problems for previous analyses. This paper proposes a two-step build-up of eventuality for causative alternation in archaic Chinese. Specifically, I propose that verbs in archaic Chinese are monadic and select only one argument. The merger of the verb with this argument is the realization of its eventuality conceptualized in the Lexicon; any further merger is determined by the eventuality composed by different light verbs in syntax. The uninitiated light verb is a placeholder with an empty argument. A specific light verb value is determined by the eventuality that is sent to the syntactic structure. Thus, the difference between all variants in causative alternation witnessed in Zuo Tradition lies in the different eventualities which they introduce into the syntactic configuration.

Heterotopic Ossification and Platelet-Rich Plasma in Core Muscle Injuries: A Single-Institution Experience Over 6 Years

Background: A 2015 study of platelet-rich plasma (PRP) for groin injuries in National Football League (NFL) players alerted the authors to the possibility that PRP is associated with heterotopic ossification (HO). The current study of athletes seen between 2014 and 2019 provides a more comprehensive analysis of that observation. Purpose/Hypothesis: This report describes the early results of groin surgery for athletes who had experienced failed PRP therapy performed by different practitioners and with an assortment of PRP techniques. The primary goal of this cohort study was to determine short-term clinical outcomes after surgery of PRP-treated patients. It was hypothesized that previous PRP treatment would be associated with the presence of HO among patients with core muscle injuries (CMIs). Study Design: Cohort study; Level of evidence, 3. Methods: All athletes seen at 1 institution and identified at their first visit as having received PRP for a CMI were followed and compared with patients with a CMI who had not previously received PRP. Although in many cases HO was observed on clinical examination or imaging, HO was identified intraoperatively in all surgical cases and confirmed pathologically. Successful surgery was defined as return to play at previously high levels of performance or greater as determined by the athletes’ own assessments. All patients who had received PRP were followed for ≥2 years. Results: Among 3642 patients with a new CMI seen between 2014 and 2019, 68 (1.9%) patients developed HO within the core muscles and/or adjacent soft tissues. Of the 68 patients, 60 (88.2%) were men, and the mean age was 34.5 years. Of the 68 patients, 62 (91.2%) were athletes and 44 (64.7%) had been treated previously with PRP. HO was observed in 24 (0.7%) patients without previous PRP treatment. Three athletes who received PRP retired early from sports because of HO and scar issues. In total, 22 of 28 (78.6%) NFL players who received PRP developed HO, compared with 0 (0%) of 28 randomly selected, age-, position-, and injury-matched NFL players. After surgical repair, 3-month success rates were 67.9% and 96.4%, respectively, in the PRP and non-PRP groups (P = .006). By 6 months postoperatively, PRP-treated patients were back to similarly high success rates compared with the non-PRP cohort. Scar tissue issues played a prominent role in the relative delay in definitive success. Conclusion: The present, more comprehensive study confirms the previous preliminary analysis that treating CMIs with PRP may be associated with HO.

Synthetic Observations of the Infalling Rotating Envelope: Links between the Physical Structure and Observational Features

We performed synthetic observations of the Ulrich, Cassen, and Moosman (UCM) model to understand the relation between the physical structures of the infalling envelope around a protostar and their observational features in molecular lines, adopting L1527 as an example. We also compared the physical structure and synthetic position–velocity (P–V) diagrams of the UCM model and a simple ballistic (SB) model. There are multiple ways to compare synthetic data with observational data. We first calculated the correlation coefficient. The UCM model and the SB model show similarly good correlation with the observational data. While the correlation reflects the overall similarity between the cube datasets, we can alternatively compare specific local features, such as the centrifugal barrier in the SB model or the centrifugal radius in the UCM model. We evaluated systematic uncertainties in these methods. In the case of L1527, the stellar mass values estimated using these methods are all lower than the value derived from previous Keplerian analysis of the disk. This may indicate that the gas infall motion in the envelope is retarded by, e.g., magnetic fields. We also showed analytically that, in the UCM model, the spin-up feature of the P–V diagram is due to the infall velocity rather than the rotation. The line-of-sight velocity V is thus ∝x −0.5, where x is the offset. If the infall is retarded, rotational velocity should dominate so that V is proportional to x −1, as is often observed in the protostellar envelope.

Structural studies of Prussian Blue Analogs containing trivalent hexacyanoferrate by extended X-ray absorption fine structure spectroscopy

The structure of 10 Prussian Blue Analogs containing trivalent hexacyanoferrate was investigated by extended X-ray absorption fine structure spectroscopy at the Fe 1 s edge and the transition metal 1 s edges. Despite the changes in physical properties due to differences in the non-iron transition metal and the interatomic distance between Fe and the non-iron transition metal, there was almost no change in the structure of trivalent hexacyanoferrate ions. Although this result agrees with the conclusions of many previous structural analyses, it raises a new question compared to our previous research conducted soft X-ray absorption measurements at the Fe 2p edge, which states that the detailed electronic state of Fe varies in proportion to the interatomic distance between Fe and the non-iron transition metal.

Personalised care packages for people with rheumatoid arthritis: a mixed-methods study

ObjectivesDisease management in rheumatoid arthritis (RA) requires holistic assessment. We aimed to design personalised care packages suitable for people with RA.MethodsThis study was conducted using a mixed-methods approach and exploratory...

First principles simulations of MgO(100) surface hydration at ambient conditions.

Developing a better understanding of water ordering and hydroxylation at oxide mineral surfaces is important across a breath of application spaces. Recent vibrational sum frequency generation (vSFG) measurements on MgO(100) surfaces at ambient conditions showed that water dissociates and hydroxylates the surface yielding a non-hydrogen bonded hydroxyl species. Starting from previously determined water hydroxylation patterns on MgO(100), we performed ab initio thermodynamic calculations and vibrational analysis to compare with the vSFG observations. At ambient conditions (i.e., T = 298.15 K and pH2O = 32 mbar), the most thermodynamically favorable surface hydroxylation is found to be p(3 × 2) - 8H2O, involving a dissociation of 25% of the adsorbed water. Analysis of the vibrational density of states for this hydroxylation configuration yielded three different hydrogen bonding environments with the frequency of the peaks in very good agreement with the vSFG measurements. However, the non-H-bonded spectral feature on this surface is predicted to be similar to that expected for Mg(OH)2, a thermodynamically downhill alteration of the surface that must be independently ruled out before one can be fully confident in the apparent theory/vSFG agreement. Our study provides more insights into the ordering and structure of water monolayer at MgO(100) surface at ambient conditions and completes previous theoretical and experimental analysis performed at low temperature and ultra-high vacuum conditions.

Székelyföldi falvak: periferizálódás és kihívások

The study is related to a research project carried out in cooperation between the Institute of Development and the Centre for Regional and Anthropological Research (KAM), which deals with the situation of settlements in Szeklerland that do not have the status of a settlement centre, and the process of peripheralisation of these settlements after 1989. In the research, we have attempted to contextualise the analysis in the literature on the contemporary changes in rural areas. The research relies to a large extent on previous analyses carried out at the Institute (see, not least, the group DOMUS Programmes, each of which focused on an aspect of the functioning of rural areas). After outlining the literature context on the transformation of rural areas, this paper briefly describes the research and results in Szeklerland.

SGXonerate:Finding (and Partially Fixing) Privacy Flaws in TEE-based Smart Contract Platforms Without Breaking the TEE

TEE-based smart contracts are an emerging blockchain architecture, offering fully programmable privacy with better performance than alternatives like secure multiparty computation. They can also support compatibility with existing smart contract languages, such that existing (plaintext) applications can be readily ported, picking up privacy enhancements automatically. While previous analysis of TEE-based smart contracts have focused on failures of TEE itself, we asked whether other aspects might be understudied. We focused on state consistency, a concern area highlighted by Li et al., as well as new concerns including access pattern leakage and software upgrade mechanisms. We carried out a code review of a cohort of four TEE-based smart contract platforms. These include Secret Network, the first to market with in-use applications, as well as Oasis, Phala, and Obscuro, which have at least released public test networks. The first and most broadly applicable result is that access pattern leakage occurs when handling persistent contract storage. On Secret Network, its fine-grained access pattern is catastrophic for the transaction privacy of SNIP-20 tokens. If ERC-20 tokens were naively ported to Oasis they would be similarly vulnerable; the others in the cohort leak coarse-grained information at approximately the page level (4 kilobytes). Improving and characterizing this will require adopting techniques from ORAMs or encrypted databases. Second, the importance of state consistency has been underappreciated, in part because exploiting such vulnerabilities is thought to be impractical. We show they are fully practical by building a proof-of-concept tool that breaks all advertised privacy properties of SNIP-20 tokens, able to query the balance of individual accounts and the token amount of each transfer. We additionally demonstrate MEV attacks against the Sienna Swap application. As a final consequence of lacking state consistency, the developers have inadvertently introduced a decryption backdoor through their software upgrade process. We have helped the Secret developers mitigate this through a coordinated vulnerability disclosure, after which their state consistency should be roughly on par with the rest.