bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report
Authors: Chen Jing , Xiang Qinqin , Xiao Xiao , Xu Bocheng , Xie Hanbing , Wang He , Yang Mei , Liu Shanling 
Published: November 2023

AbstractBackgroundCongenital talipes equinovarus (CTEV) is a rotational foot deformity that affects muscles, bones, connective tissue, and vascular or neurological tissues. The etiology of CTEV is complex and unclear, involving genetic and environmental factors. Nail‐patella syndrome is an autosomal dominant disorder caused by variants of the LIM homeobox transcription factor 1 beta gene (LMX1B, OMIM:602575). LMX1B plays a key role in the development of dorsal limb structures, the kidneys, and the eyes, and variants in this gene may manifest as hypoplastic or absent patella, dystrophic nails, and elbow and iliac horn dysplasia; glomerulopathy; and adult‐onset glaucoma, respectively. This study aimed to identify pathogenic variants in a fetus with isolated talipes equinovarus diagnosed by ultrasound in the second trimester, whose father exhibited dysplastic nails and congenital absence of bilateral patella.MethodsPrenatal whole‐exome sequencing (WES) of the fetus and parents was performed to identify the genetic variant responsible for the fetal ultrasound abnormality, followed by validation using Sanger sequencing.ResultsA novel heterozygous nonsense variant in exon 6 of LMX1B (c.844C>T, p.Gln282*) was identified in the fetus and the affected father but was not detected in any unaffected family members. This nonsense variant resulted in a premature termination codon at position 282, which may be responsible for the clinical phenotype through the loss of function of the gene product.ConclusionsOur study indicating that a fetus carrying a novel nonsense variant of LMX1B (c.844C>T, p.Gln282*) can exhibit isolated talipes equinovarus, which expands the LMX1B genotypic spectrum and is advantageous for genetic counseling.
Opposing roles for ADAMTS2 and ADAMTS14 in myofibroblast differentiation and function
Authors: Carter Edward P , Yoneten Kubra K , Gavara Nuria , Tyler Eleanor J , Gauthier Valentine , Murray Elizabeth R , ten Dijke Peter , Cameron Angus J , Pearce Oliver , Grose Richard P 
Published: November 2023

AbstractCrosstalk between cancer and stellate cells is pivotal in pancreatic cancer, resulting in differentiation of stellate cells into myofibroblasts that drives tumour progression. To assess cooperative mechanisms in a 3D context, we generated chimeric spheroids using human and mouse cancer and stellate cells. Species‐specific deconvolution of bulk‐RNA sequencing data revealed cell type‐specific transcriptomes underpinning invasion. This dataset highlighted stellate‐specific expression of transcripts encoding the collagen‐processing enzymes ADAMTS2 and ADAMTS14. Strikingly, loss of ADAMTS2 reduced, while loss of ADAMTS14 promoted, myofibroblast differentiation and invasion independently of their primary role in collagen‐processing. Functional and proteomic analysis demonstrated that these two enzymes regulate myofibroblast differentiation through opposing roles in the regulation of transforming growth factor β availability, acting on the protease‐specific substrates, Serpin E2 and fibulin 2, for ADAMTS2 and ADAMTS14, respectively. Showcasing a broader complexity for these enzymes, we uncovered a novel regulatory axis governing malignant behaviour of the pancreatic cancer stroma. © 2023 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.
New risk factors and molecular landscapes of hepatic angiosarcoma in the Taiwanese population†
Authors: Chung Felicia , Zavadil Jiri 
Published: November 2023

AbstractHepatic angiosarcoma is a rare, highly aggressive malignancy of the liver. The tumorigenesis of hepatic angiosarcoma has been relatively understudied in terms of aetiology and molecular properties. A recent study published in The Journal of Pathology revealed a strong association between hepatic angiosarcoma incidence and chronic kidney disease, particularly in end‐stage renal disease using population‐based data from the National Health Insurance Research Database in Taiwan and an institutional cohort. The study also revealed enrichment in the mutational signature of aristolochic acid exposure and is the first reported observation of this mutational signature in human sarcomas. © 2023 The Pathological Society of Great Britain and Ireland.
Efficacy and safety of factor Xa inhibitors in low body weight patients
Authors: Tan Yingcong , Hubbard Cynthia , Owens Holly , Pitt James , Giuliano Christopher , Haan Bradley , Breeden Thomas , Sirbu Dumitru , Pena Kelsey , Haddox Trevlyn , Edwin Stephanie B. 
Published: November 2023

AbstractStudy ObjectiveThe purpose of this study is to provide evidence for the safety and efficacy of factor Xa inhibitors in patients with a weight ≤60 kg or BMI < 18.5 kg/m2.DesignMulticenter, retrospective, cohort study.SettingTwenty‐two Ascension Health hospitals.PatientsLow‐body‐weight adult patients (weight ≤ 60 kg or BMI < 18.5 kg/m2) receiving treatment for atrial fibrillation or venous thromboembolism.InterventionFactor Xa inhibitors (apixaban or rivaroxaban) or warfarin.Measurements and Main ResultsThis study included 2538 patients between the factor Xa inhibitors (n = 1695) and warfarin (n = 843) groups with a mean weight of 53.5 ± 5.5 kg and BMI of 20.7 ± 3.1 kg/m2. No significant difference in time to major bleeding was noted after controlling for potential confounders (HR 1.03, 95% CI 0.70–1.53, p = 0.87); similar results were seen following propensity score matching. Thromboembolism (5.3% vs. 6.2%, p = 0.38), composite major + clinically relevant nonmajor bleeding (9.8% vs. 11.5%, p = 0.18), and all‐cause mortality (10.7% vs. 12.8%, p = 0.12) were similar between patients receiving factor Xa inhibitors versus warfarin.ConclusionNo differences in safety or effectiveness were noted between factor Xa inhibitors versus warfarin. These findings provide encouraging evidence to support the use of factor Xa inhibitors in low‐body‐weight patients.
Impact of medication intensification on 30‐day hospital readmissions in a geriatric trauma population: A multicenter cohort study
Authors: Kanis Emily , Gallegos Patrick , Christman Kailey , Vazquez Daniel , Mullen Chanda , Cucci Michaelia D. 
Published: November 2023

AbstractBackgroundFall‐related injuries are a significant health issue that occur in 25% of older adults and account for a significant number of trauma‐related hospitalizations. Although medication intensification may increase the risk of hospital readmissions in non‐trauma patients, data on a geriatric trauma population are lacking.ObjectiveThe primary objective was to evaluate the effect of medication intensification on 30‐day hospital readmissions in geriatric patients hospitalized for fall‐related injuries.MethodsThis multicenter, retrospective cohort study included patients with geriatric who presented to one of three trauma centers within a large, health‐system between January 1, 2018 and December 31, 2020. Patients at least 65 years old admitted with a fall‐related injury were eligible for inclusion. Patients were grouped according to medication changes at discharge, which included intensified and non‐intensified groups. Medication intensification included increased dose(s) or initiation of new agents. The primary outcome was the 30‐day hospital readmission rate.ResultsOf the 870 patients included (median [interquartile range, IQR] age, 82 [74–89] years, 522 (60%) female, and 220 (25%) with a previous fall), there were 471 (54%) and 399 (46%) patients in the intensified and non‐intensified groups, respectively. The intensified group had a higher 30‐day hospital readmission rate (21% intensified vs. 16% non‐intensified, p = 0.043; number needed to harm 20) based on an unweighted analysis. According to a weighted propensity score logistic regression, medication intensification was associated with higher 30‐day hospital readmissions (24% [95% confidence interval [CI] 19–31%] intensified vs. 15% [95% CI 11–20%] non‐intensified, p = 0.018). These results were consistent within competing risk models accounting for death (cause‐specific model: hazard ratio [HR] 1.63 [95% CI 1.07–2.49], p = 0.023; Fine‐Gray model: HR 1.64 [95% CI 1.07–2.50], p = 0.022).ConclusionsIn a geriatric trauma population hospitalized after a fall, intensification of medications may pose an increased risk of 30‐day hospital readmission.
Association between household opioid prescriptions and risk for overdose among family members not prescribed opioids
Authors: Arakkal Alan T. , Polgreen Linnea A. , Chapman Cole G. , Simmering Jacob E. , Cavanaugh Joseph E. , Polgreen Philip M. , Miller Aaron C. 
Published: November 2023

AbstractBackgroundPrescription opioids have contributed to the rise in opioid‐related overdoses and deaths. The presence of opioids within households may increase the risk of overdose among family members who were not prescribed an opioid themselves. Larger quantities of opioids may further increase risk.ObjectivesTo determine the risk of opioid overdose among individuals who were not prescribed an opioid but were exposed to opioids prescribed to other family members in the household, and evaluate the risk in relation to the total morphine milligram equivalents (MMEs) present in the household.MethodsWe conducted a cohort study using a large database of commercial insurance claims from 2001 to 2021. For inclusion in the cohort, we identified individuals not prescribed an opioid in the prior 90 days from households with two or more family members, and determined the total MMEs prescribed to other family members. Individuals were stratified into monthly enrollment strata defined by household opioid exposure and other confounders. A generalized linear model was used to estimate incidence rate ratios (IRRs) for overdose.ResultsOverall, the incidence of overdose among enrollees in households where a family member was prescribed an opioid was 1.73 (95% confidence interval [CI]: 1.67–1.78) times greater than households without opioid prescriptions. The risk of overdose increased continuously with the level of potential MMEs in the household from an IRR of 1.23 (95% CI: 1.16–1.32) for 1–100 MMEs to 4.67 (95% CI: 4.18–5.22) for >12,000 MMEs. The risk of overdose associated with household opioid exposure was greatest for ages 1–2 years (IRR: 3.46 [95% CI: 2.98–4.01]) and 3–5 years (IRR: 3.31 [95% CI: 2.75–3.99]).ConclusionsThe presence of opioids in a household significantly increases the risk of overdose among other family members who were not prescribed an opioid. Higher levels of MMEs, either in terms of opioid strength or quantity, were associated with increased levels of risk. Risk estimates may reflect accidental poisonings among younger family members.
Synthesis and properties of highly thermally stable ultrathin films of fluorine‐containing hyperbranched polybenzoxazoles
Authors: Maekawa Hiroyuki , Nakamura Kosyu , Kudo Hiroto 
Published: November 2023

AbstractIn this paper, we aimed to develop ultrathin films of hyperbranched polybenzoxazole with a thickness in the range between 1 and 100 nm. They are expected to have great potential for various applications as functional materials due to their high thermal stability, good chemical resistance and mechanical strength. The synthesis of various hyperbranched poly(o‐hydroxyamide)s as precursors of polybenzoxazole was examined by the polycondensation of 2,2‐bis(3‐amino‐4‐hydroxyphenyl)propane (AHP) and 2,2‐bis(3‐amino‐4‐hydroxyphenyl)hexafluoropropane (AHFP) with 1,3,5‐benzenetricarbonyl trichloride (BCC), yielding the corresponding hyperbranched poly(o‐hydroxyamide), poly(AHFPm‐co‐AHPn‐co‐BCC2.0), with Mn in the range between 12,870 and 22,210 in satisfactory yields. Poly(AHFP3.0‐co‐BCC2.0), poly(AHFP2.25‐co‐AHP0.75‐co‐BCC2.0), and poly(AHFP1.50‐co‐AHP1.50‐co‐BCC2.0) showed good solubility and film‐forming ability, and ultrathin films 8.9–88.6 nm thick were prepared on silicon wafers. Heating of the ultrathin films of poly(AHFPm‐co‐AHPn‐co‐BCC2.0) on a hot plate at 350 °C for 1 h afforded the corresponding ultrathin films of hyperbranched polybenzoxazole, poly(AHFPm‐cyclo‐AHPn‐cyclo‐BCC2.0), with a thickness of 5.3–82.4 nm. Double‐layer thin films consisting of resist materials on top of hyperbranched polybenzoxazole were also prepared.
Theoretical occurrence of quantized chemistry of conduction mechanism in layered perovskite for the application of Resistive Random Access Memory devices
Authors: Sajid Muhammad , Ishaque Maria , Imran Muhammad , Niaz Niaz Ahmad , Hussain Fayyaz , Rasheed Umbreen , Khalil R. M. Arif , Ali Syed Mansoor , Hayat Sardar Sikandar , Shoaib Muhammad 
Published: November 2023

AbstractThe Density Functional Theory (DFT) calculations interpreted the electronic and optical alteration of Ruddlesden–Popper layered perovskite (Sr3Zr2O7) with substitutional doping of Ti‐, Hf‐, and Ti+Hf‐ atoms in place of Zr‐atoms by generating the oxygen vacancies (Vos) defect. Formation energy and phonon calculations confirmed that the studied composites are dynamically stable, and the lattice parameters of the considered RP perovskite with and without vacancy defects did not change by introducing a small concentration of doped elements. The doped Sr3Zr2O7 composites show band gap tuning in the presence and absence of Vos, which was 3.31 eV in pristine form, and localized states near the Fermi line due to dopant and Vos, which confirmed the quantized conductance in all composites and may be beneficial for overcoming uniformity issues in nonvolatile memory devices. Isosurface charge density calculations also verified this result by depicting the physical mechanism of charge accumulation and depletion in the layers of RP perovskite in the vicinity of defects, resulting in residual conducting filaments guiding its growth and leading it to a low resistance state. The photosensitive response of this layered perovskite also confirmed its use for memory storage applications. The valuable outcomes of this study predicted that Sr3Zr2O7+Ti+Hf is the most stable and, hence, the best composite for nonvolatile RRAM device applications.
Consensus control of nonlinear multi‐agent systems with semi‐Markov switching topology and incremental quadratic constraints
Authors: Huang Jun , Li Qingyuan , Zhao Xudong , Zhang Min , Zhang Yueyuan 
Published: November 2023

AbstractThe consensus problem of nonlinear multi‐agent systems with incremental quadratic constraints and semi‐Markov switching topology is discussed in this article. In order to simulate the delay of the communication network in the actual system, the nonlinear function, which contains the delay term is considered in this article. The control protocol is designed based on the dynamics of the adjacent agent states and the desired agent states. Through the use of the characteristics of the Kronecker product, the distributed system is converted to a centralized system. It is worth mentioning that for saving computational resources, the slack variable method is used to deal with the time‐varying transition rate, and the sufficient condition is expressed by the standard linear matrix inequality. Finally, the effectiveness of the control protocol is demonstrated by numerical simulations.
Combined finite‐time state feedback for high‐speed train systems with time‐varying delays and disturbances
Authors: Tong Yinghao , Ren Zhengyun , Tong Dongbing , Fan Zhiping , Feng Xue 
Published: November 2023

AbstractIn this paper, finite‐time state estimation and control problems are considered for high‐speed train systems. First of all, dynamic error systems of the high‐speed trains are modeled as nonlinear systems with time‐varying delays and disturbances. Secondly, finite‐time state estimators and finite‐time controllers are designed for dynamic error systems, a combined finite‐time state feedback structure is obtained. Then based on the Lyapunov stability theory and the finite‐time stability theory, finite‐time bounded conditions of high‐speed train dynamic error systems and estimation error systems are obtained. Finally, the feasibility of designed control method is proved by a example.
Interfacial Engineering and Coupling of MXene/Reduced Graphene Oxide/C3N4 Aerogel with Optimized d‐Band Center as a Free‐Standing Sulfur Carrier for High‐Performance Li‐S Batteries
Authors: Yang Botao , Xu Mengyao , Gao Yuan , Zhu Qizhen , Xu Bin 
Published: November 2023

AbstractTo overcome the shuttle effect and improve the energy density of Li–S batteries, developing free‐standing sulfur carriers with high capture and catalytic effect towards polysulfides is an effective strategy. Herein, a MXene/reduced graphene oxide/C3N4 aerogel (MG/C3N4) with three‐dimensional architecture prepared through low‐temperature hydrothermal approach followed by thermal treatment is used as sulfur carrier for free‐standing cathode of Li‐S batteries. In the MG/C3N4, MXene and rGO construct a highly conductive framework, and the MXene nanosheets offer chemical capture and catalytic activity towards lithium polysulfides, in favor of good cycling stability. The introduction of g‐C3N4 further enhances the reactivity of C‐Ti‐N at the hetero‐interface by engineering the electronic state of Ti atoms, leading to the optimized metal d‐band for expediting the multistep conversion of sulfur electrochemistry. Therefore, the free‐standing sulfur cathode with MG/C3N4 carrier achieves excellent performance with a capacity of 1315.6 mAh g−1 at 0.2 C and a capacity retention of 97.5% after 100 cycles as well as superior rate capability with 1167.4 mAh g−1 at 2 C. Even at a high sulfur loading of 4.92 mg cm−2, the cathode remains 940.3 mAh g−1 (4.62 mAh cm−2) after 200 cycles, indicating its promising potential for achieving high‐performance Li‐S batteries.
Electromechanical Origin of Phonon Dynamics Exhibiting Tunable Anisotropic Heat Transport in Layered Nanostructures
Authors: Kim Youngoh , Choi Joonmyung 
Published: November 2023

AbstractOwing to the structural characteristics of 2D layered nanomaterials, anisotropic thermal conductivity is considered an attractive design factor for constructing efficient heat‐transfer pathways. In this study, the electromechanical origin of anisotropic thermal conduction in Ti3C2O2M (M = Li, Na, K) is investigated at the atomic scale using theoretical multiscale analysis. The results demonstrate that the acoustic and optical phonon modes drive interlayer and intralayer heat conduction, respectively. Further, the lower the atomic number of the alkali ions intercalated in the Ti3C2O2 layer, the more immediately it responds to externally applied oscillations owing to its low inertia and high electrostatic force. The Li‐ion layer exhibits an instantaneous response to vibrational excitations from an external source, making it transparent to higher phonon modes under interlayer and intralayer thermal conduction. The electromechanical modulation properties of the ion layer are further elucidated, providing practical insights into the design of anisotropic thermal paths.
Generalized Parking Function Polytopes
Authors: Hanada Mitsuki , Lentfer John , Vindas-Meléndez Andrés R. 
Published: November 2023

AbstractA classical parking function of length n is a list of positive integers $$(a_1, a_2, \ldots , a_n)$$

(

a
1

,

a
2

,
…
,

a
n

)

whose nondecreasing rearrangement $$b_1 \le b_2 \le \cdots \le b_n$$

b
1

≤

b
2

≤
⋯
≤

b
n

satisfies $$b_i \le i$$

b
i

≤
i

. The convex hull of all parking functions of length n is an n-dimensional polytope in $${\mathbb {R}}^n$$

R

n

, which we refer to as the classical parking function polytope. Its geometric properties have been explored in Amanbayeva and Wang (Enumer Combin Appl 2(2):Paper No. S2R10, 10, 2022) in response to a question posed by Stanley (Amer Math Mon 127(6):563–571, 2020). We generalize this family of polytopes by studying the geometric properties of the convex hull of $${\textbf{x}}$$
x
-parking functions for $${\textbf{x}}=(a,b,\dots ,b)$$

x
=
(
a
,
b
,
⋯
,
b
)

, which we refer to as $${\textbf{x}}$$
x
-parking function polytopes. We explore connections between these $${\textbf{x}}$$
x
-parking function polytopes, the Pitman–Stanley polytope, and the partial permutahedra of Heuer and Striker (SIAM J Discrete Math 36(4):2863–2888, 2022). In particular, we establish a closed-form expression for the volume of $${\textbf{x}}$$
x
-parking function polytopes. This allows us to answer a conjecture of Behrend et al. (2022) and also obtain a new closed-form expression for the volume of the convex hull of classical parking functions as a corollary.
A close look at sociality in DSM criteria
Authors: Zagaria Andrea , Zennaro Alessandro 
Published: November 2023

Abstract
Purpose
The importance of sociality in psychology and psychotherapy is quite undisputed; however, this construct risks being underestimated in psychiatric nosography. The aim of the review was to assess the relevance of sociality in DSM 5 criteria.

Method
Sociality-laden criteria of 192 selected DSM categories have been identified through a textual grid. Second, the criteria have been classified into 6 categories, i.e., (1) Affiliation and Attachment (AA), (2) Social Communication (SC), (3) Perception and Understanding of Others (PUO), (4) Culture, (5) Clinical Significance Criterion (CSC) (6), and No Specific Construct (NSC).

Results
13% of all mental disorders mention AA in their criteria. 8.8% of all mental disorders mention SC; 8.8% of all mental disorders mention PUO in their criteria. 15% of all mental disorders mention culture in their criteria (exclusively ex negativo though). 40% of mental disorders mention non-specific sociality (NSC) in their criteria. CSC is mentioned in 85% of mental disorders. Personality disorders have the highest “concentration” of sociality mentions throughout the DSM categories.

Conclusions
The overall results suggest that DSM criteria offer a confused account of sociality. We believe that the descriptive approach is the underlying reason. We suggest that in the long run a theory-laden approach to sociality, informed by evolutionary insights about motivations, could be of help.
Post-processing feature-mapping topology optimisation designs towards feature-based CAD processing
Authors: Shannon T. , Robinson T. T. , Murphy A. , Armstrong C. G. 
Published: November 2023

AbstractFeature-mapping (FM) optimisation frameworks have received much attention for structural topology optimisation with explicit geometric parameters. This paper presents a methodology for constructing parametric feature-based CAD models from designs generated using Moving Morphable Components (MMC). Emphasis is placed on constructing feature-based CAD models that conform to conventional modelling practices, where individual parameterised features are modelled using feature templates and united through Boolean union operations. This involves the use of algorithms to facilitate feature clean-up and identify connexions between features. The progression through several examples demonstrates how the developed algorithms can realise a feature-based CAD model from the results of an FM optimisation. Integration with a commercial CAD system provides a wide range of modelling capabilities to the designer for downstream design tasks.