bluuebunny/crossref_metadata_2025_split huggingface dataset:
Parental mosaicism rather than de novo variants in FOXG1‐related syndrome and TUBA1A‐associated Tubulinopathy: Familial case reports
Authors: Tang Hai Xuan , Lu Y‐Thanh , Ha Thi Minh Thi , Tran Nhat‐Thang , Dang Doan Minh , Ly Son Xuan , Bui Thu Ha Thi , Vo Son Ta , Thai Minh Doan , Nguyen Vu Dinh , Nguyen Thong Van , Dinh Linh Thuy , Luong Lan‐Anh Thi , Doan Kim‐Phuong , Nguyen Kim Huong Thi , Do Thanh‐Thuy Thi , Truong Dinh‐Kiet , Giang Hoa , Nguyen Hoai‐Nghia , Trinh Thu Huong Nhut , Tang Hung Sang 
Published: June 2024

AbstractBackgroundDe novo variations are a primary cause of Rett syndrome and Tubulinopathy, accounting for over 90% of cases. Some studies have identified and documented parental inheritance by mosaicism in these two disorders, albeit with limited data.MethodsClinical characteristics and diagnosis, including genetic tests of members of two families, were obtained from medical reports.ResultsThe first family with Rett syndrome (RTT) presented with two offspring carrying FOXG1 c.460dup. Both affected RTT pregnancies did not show anomalies within the first trimester, preventing prenatal recognition at an early stage. The second family had two of three offspring confirmed with TUBA1A c.172G>A related to Tubulinopathy. Both young couples from the two families harbored none of the variants correlating to their children's conditions. Diagnosis of parental mosaics with higher rates of recurrence was reasonably determined, and genetic counseling played a major role in guiding and managing their subsequent pregnancies.ConclusionIn genetic disorders with a high penetration of de novo variants, the risk of having a recurrent baby is an important topic to discuss with affected families. By examining variants that siblings share, clinical diagnosis can offer valuable information about the presence of mosaic inheritance. To effectively manage in the long term, adequate genetic counseling and strategic planning for future pregnancies should be emphasized to mitigate the risk of recurrent offspring.
Emergence of critical state in granular materials using a variationally‐based damage‐elasto‐plastic micromechanical continuum model
Authors: Yilmaz Nurettin , Yildizdag M. Erden , Fabbrocino Francesco , Placidi Luca , Misra Anil 
Published: June 2024

AbstractThe mechanical response of granular materials, exemplified by frictional grain interactions, is characterized by a critical state in which deformation occurs without change of material volume or stresses when subjected to large shear deformation. In this work, a granular micromechanics approach (GMA) based continuum model is used to investigate the emergence of such a critical state. The continuum description is constructed through mechanical concepts based upon elastic and dissipation energies defined for a generic grain‐pair interaction. A hemivariational principle provides the basis for considering the evolution of damage and plasticity phenomena comprising grain‐pair contact loss and irreversible deformation. As a consequence, the Karush–Kuhn–Tucker (KKT)‐type conditions are derived, which give the evolution equations for the irreversible phenomena. Notably, in this derivation there is no invocation of flow rules and other similar assumptions of classical phenomenological continuum damage and plasticity. Further, Piola's ansatz is elaborated to kinematically connect granular micromechanics of grain‐pair to the continuum description. While the concept of critical state analysis has been handled with either phenomenological approaches or discrete numerical frameworks, in the present paper this concept is examined within a micromechanics‐based continuum description. The constitutive model is established and the coupled damage and plastic irreversible quantities are assessed. The critical state is shown to emerge as grain‐pair related damage and plastic evolution in a competitive/collaborative manner during the imposed loading path.
Collapse characteristics of binary granular columns considering inhomogeneous particle size distributions
Authors: Sun Hao , Jia Jun‐Ze , Nicot François , Wang Xiao‐Xiao , Zhao Li‐Shan 
Published: June 2024

AbstractDebris avalanches and dry granular flows exhibit similar characteristics. In order to comprehend the fundamental mechanisms and improve the accuracy in predicting disasters such as landslides, debris flows, and rock avalanches, the collapse characteristics of a binary granular column are investigated through a three‐dimensional discrete element model. A novel approach is proposed by incorporating the concept of local granular velocity fluctuation and applying a cluster analysis method. Then, the flow mechanism of the binary granular column is analyzed, by considering the inhomogeneous particle size distribution. The research results show that: (1) The normalized final packing height of the granular column gradually increases when the content of coarse particles exceeds 20% and when the coarse‐fine particle size ratio increases. Conversely, the normalized run‐out distance of the granular column decreases gradually with the increase in coarse particle content and the coarse‐fine particle size ratio. (2) The particles with higher granular velocity fluctuations tend to move together and form clusters, demonstrating dynamical heterogeneity. As the coarse particle content and coarse‐fine particle size ratio increase, there is a greater tendency for particles to assemble into larger‐scale active clusters. This means that a larger number of particles exhibit collective behavior during the collapse process, resulting in increased resistance to shear deformation. Ultimately, this leads to a greater packing height and a reduced run‐out distance when observed from a macroscopic perspective.
Application of factorization machine with quantum annealing to hyperparameter optimization and metamodel‐based optimization in granular flow simulations
Authors: Xiao Junsen , Endo Katsuhiro , Muramatsu Mayu , Nomura Reika , Moriguchi Shuji , Terada Kenjiro 
Published: June 2024

AbstractThis study examined the applicability of factorization machines with quantum annealing (FMQA) to the field of landslide risk assessment for two specific black‐box optimization problems, hyperparameter optimization (HPO) for metamodeling and metamodel‐based simulation optimization (MBSO) targeting granular flow simulation using discrete element method (DEM). These two optimization problems are solved successively: HPO is first performed to determine the hyperparameters of the Gaussian process regression (GPR) metamodel, which is then used as a low‐cost, fast approximate solver of granular flow simulations for MBSO. After conducting a series of granular flow simulations using DEM, a metamodel is created that outputs a risk index of interest, the run‐out distance, from its input parameters by employing GPR with two hyperparameters, length‐scale and signal variance. Subsequently, HPO is performed to obtain the optimal set of hyperparameters by applying FMQA and other optimization methods using another set of hyperparameters determined using the gradient‐ascent method as the reference solution. Finally, using the metamodel created by each optimization method as an approximate solver for DEM simulations, MBSO is performed to find the optimal target output, the maximum run‐out distance, in the space of physical input parameters for risk assessment. A comparison of the performance of FMQA with that of other methods shows that FMQA is competitive in terms of efficiency and stability with state‐of‐the‐art algorithms such as Bayesian optimization.
Overcoming the lack of annotated medical images by non‐expert annotation?
Authors: Klingner Carsten M. , Hemm Sophia , Wagner Franziska , Mayer Thomas E. , Guellmar Daniel , Witte Otto W. , Brodoehl Stefan 
Published: June 2024

AbstractObjectiveEarly diagnosis of ischemic stroke is crucial. While CT scans are recommended, interpreting them is challenging. Machine learning can aid interpretation, but the lack of large datasets hinders its development. We explored if non‐expert labeling enhances the performance of a deep learning system trained on expert‐labeled datasets.MethodsOne‐hundred eight CT datasets were labeled for suspected strokes by both an expert and a non‐expert. A DenseNet121 model was trained on either expert data alone or with added non‐expert data. Both models were tested using expert‐only data, evaluating performance metrics such as accuracy, sensitivity, and F1 score.ResultsExpert and non‐expert labeling showed strong agreement (Cohen's kappa: 0.83). Adding non‐expert data enhanced model accuracy from 86.2% to 87.7% (p < .001) and the F1 score from 86.5% to 88.4% for non‐stroke images, and from 85.7% to 87.0% for stroke images.ConclusionMachine learning performance in stroke detection can benefit from non‐expert labeled datasets. The implications for other medical conditions and the effect on larger datasets are yet to be determined. This could potentially address the issue of scarce labeled stroke imaging datasets.
A machine‐learning approach to thunderstorm forecasting through post‐processing of simulation data
Authors: Vahid Yousefnia Kianusch , Bölle Tobias , Zöbisch Isabella , Gerz Thomas 
Published: June 2024

AbstractThunderstorms pose a major hazard to society and the economy, which calls for reliable thunderstorm forecasts. In this work, we introduce SALAMA, a feedforward neural network model for identifying thunderstorm occurrence in numerical weather prediction (NWP) data. The model is trained on convection‐resolving ensemble forecasts over central Europe and lightning observations. Given only a set of pixel‐wise input parameters that are extracted from NWP data and related to thunderstorm development, SALAMA infers the probability of thunderstorm occurrence in a reliably calibrated manner. For lead times up to 11 h, we find a forecast skill superior to classification based only on NWP reflectivity. Varying the spatiotemporal criteria by which we associate lightning observations with NWP data, we show that the time‐scale for skillful thunderstorm predictions increases linearly with the spatial scale of the forecast.
Comparison of the in vivo kinematics between robotic‐assisted Bi‐cruciate retaining and Bi‐cruciate stabilised total knee arthroplasty
Authors: Wong Ashley Ying‐Ying , Ong Michael Tim‐Yun , Choi Tsz Lung , Lam Gloria Yan‐Ting , He Xin , Yu Mingqian , Choi Ben Chi‐Yin , Fong Daniel T. P. , Yung Patrick Shu‐Hang 
Published: June 2024

AbstractBackgroundUp to 20% of patients remain unsatisfied after total knee arthroplasty (TKA), prompting the development of new implants. Bi‐Cruciate Retaining (BCR) TKA preserves both the anterior cruciate ligament (ACL) and posterior cruciate ligament (PCL), with the ACL beneficial for its proprioceptive qualities. The Bi‐Cruciate Stabilised (BCS) TKA substitutes the ACL and PCL with a unique dual cam‐post mechanism. Robotics improve accuracy and facilitate technically demanding TKA.MethodsThis was a retrospective case‐control study recruited from two centres. Measured outcomes included kinematic analysis, proprioception, and functional outcomes.ResultsThere was a significantly larger maximum flexion angle and range of flexion to extension in sit‐to‐stand and stairs in BCR when compared to BCS. Further analysis revealed more similarities between BCR and normal native knees. Proprioception and functional scores did not have any statistical difference.ConclusionBCR TKA demonstrated better knee flexion in weight‐bearing active range of motion and showed similarities with normal knee kinematics.
Input‐to‐state stability of impulsive stochastic systems with state‐dependent impulses and regime‐switching
Authors: Kuang Daipeng , Gao Dongdong , Li Jianli 
Published: June 2024

AbstractThis article introduces a unified criterion for input‐to‐state stability (ISS), integral input‐to‐state stability (iISS) and ‐input‐to‐state stability (‐ISS) of impulsive stochastic system with switching. The criterion demonstrates that the premise of a switching‐impulse system to achieve three types of ISS is that a mutually constraining relationship between switching, impulse and continuous dynamics needs to be satisfied. Furthermore, using it we know that switching can stabilize a system containing stabilizing factors by affecting both continuous dynamics and impulses, that switching itself is one of the factors in system instability, and that impulses have a dual effect on the stability of the system. The coefficients of the upper bound of Lyapunov functional differential operators are time‐varying functions and the impulses contain stable and unstable impulses, including the case of constants, which advances and improves the existing results. Finally, an example and its simulation results are given to verify the validity of theoretical analysis.
No‐till impacts on soil organic carbon and soil quality in the Lower Mississippi River basin: Implications for sustainable management
Authors: Amorim Helen C. S. , Ashworth Amanda J. , Partson Mubvumba , Savin Mary C. , Anapalli Saseendran S. , Reddy Krishna N. 
Published: June 2024

AbstractNo‐till (NT) alleviates adverse effects of agricultural production on environmental quality, improves soil health, and reduces greenhouse gas emissions, yet this has not been demonstrated in humid subtropical Mississippi. Research objectives were to evaluate nutrient and C dynamics and soil quality via Soil Management Assessment Framework (SMAF) following 15 years of continuous management under corn (Zea mays L.) (2008–2018) and soybean [Glycine max (L.) Merr.] (2019–2022) on a Dundee silt loam soil. After 15 years, soil organic carbon (SOC) stocks (0‐ to 30‐cm depth) under NT were 25% higher than conventional tillage (CT). Between 2020 and 2022, SOC stocks increased 3 Mg ha−1 under NT and decreased 2 Mg ha−1 under CT. Increased SOC retention under NT could represent an opportunity for increasing the systems’ profitability as C markets expand. Greater SOC and aggregation scores improved SMAF soil quality index (SQI) under NT (71%), compared to CT (66%), underscoring the critical role of organic matter in soil functioning in managed agrosystems. Soybean yields were not linked to SMAF SQI (p > 0.05), suggesting that crop yields are mostly affected by non‐edaphic factors (e.g., climate extremes). SMAF illustrated positive impacts of NT on SOC sequestration and soil health, which may foster its adoption as a conservation practice in the Lower Mississippi River basin. As such, NT stands as a climate‐smart management practice that allows for sustainable intensification in humid subtropical regions.
Does fishery digitalization matter in the sustainable development of fisheries? Evidence from China
Authors: Ji Jianyue , Li Yanming 
Published: June 2024

AbstractThe wave of digital development is sweeping across the globe today, exerting profound impacts on various aspects of human society. As an important industry in the national economy, it is worth studying whether the sustainable development of fisheries is influenced by digitalization. Based on this, taking the fishery development in 30 provinces of China from 2011 to 2021 as an example, this article examines how digitalization affects fishery sustainable development, and conducts an expansive study on the fishery regional innovation capacity. The article finds that Chinese fishery digitalization accelerates fishery sustainable development by promoting technological progress and enhancing technological efficiency, and this promotion effect exhibits different characteristics due to varying levels of fishery sustainable development and regional disparities. Furthermore, the exploratory analysis reveals that as the fishery regional innovation capacity improves, the promoting effect of fishery digitalization on sustainable development gradually strengthens. This article has great significance in theory and reality for guaranteeing food security and realizing fishery sustainable development.
Substantive or symbolic ? The strategic choice of sustainable environmental strategy for enterprises induced by the new environmental protection law
Authors: Zhang Yang , Deng Yaling , Yang Ourong , Xia De , Liu Haiyun 
Published: June 2024

AbstractThe new “Environmental Protection Law” (abbreviated as NEPL) holds milestone significance for the construction of China's ecological legal system. However, evidence regarding the impact of NEPL on sustainable environmental strategy (abbreviated as SES) still lacks empirical analysis. This study aims to examine the mechanisms and boundary conditions through which the NEPL influences SES. Utilizing a difference‐in‐differences approach, an empirical analysis is conducted on the data of listed companies on the Shanghai and Shenzhen A‐shares from 2008 to 2021. The findings are as follows: (1) NEPL has significantly promoted both the substantive environmental strategy (abbreviated as SUB) and symbolic environmental strategy (abbreviated as SYM) of heavily polluting enterprises. Compared with SYM, the impact of NEPL on SUB is more significant. (2) Analyst coverage plays a significantly positive moderating role in the relationship between NEPL and SUB, while managerial myopia plays a significantly positive moderating role in the relationship between NEPL and SYM. (3) Environmental legitimacy pressure exerts a mediating effect on the relationship between NEPL and SES. The research findings enrich existing theories related to strategic choice and environmental policy under government intervention and provide policy recommendations for enterprises to achieve sustainable development in the context of NEPL.
Pigment Epithelium Derived Factor Drives Melanocyte Proliferation and Migration in Neurofibromatosis Café Au Lait Macules
Authors: Lovatt Charlotte , Williams Megan , Gibbs Alex , Mukhtar Abdullahi , Morgan Huw J. , Lanfredini Simone , Olivero Carlotta , Spurlock Gill , Davies Sally , Philpott Charlotte , Tovell Hannah , Turnpenny Peter , Baban Dilair , Knight Sam , Brems Hilde , Sampson Julian R. , Legius Eric , Upadhyaya Meena , Patel Girish K. 
Published: June 2024

Abstract

Background
RASopathies, which include neurofibromatosis type 1 (NF1), are defined by Ras/mitogen-activated protein kinase (Ras/MAPK) pathway activation. They represent a group of clinically related disorders often characterised by multiple Café au Lait Macules (CALMs).

Objectives
To determine, using in depth transcriptomic analysis of NF1 melanocytes from CALM and unaffected skin, (1) the gene(s) responsible for melanocyte proliferation and migration, and (2) the activated signalling pathway(s) in NF1 melanoma.

Methods
Classical NF1 (n = 2, who develop tumours) and 3bp deletion NF1 (p. Met992del, who do not develop tumours) (n = 3) patients underwent skin biopsies from CALM and unaffected skin. Melanocytes were isolated and propagated, with five replicates from each tissue sample. DNA and RNA were extracted for mutational analysis and transcriptomic profiling with six replicates per sample. Mechanistic determination was undertaken using melanocyte and melanoma cell lines.

Results
All CALMs in NF1 were associated with biallelic NF1 loss, resulting in amplification of Ras/MAPK and Wnt pathway signalling. CALMs were also associated with reduced SERPINF1 gene expression (and pigment epithelium-derived factor (PEDF) levels, the reciprocal protein), a known downstream target of the master regulator of melanocyte differentiation microphthalmia-associated transcription factor (MITF), leading to increased melanocyte proliferation, migration and invasion. In classical NF1 and melanoma, but not 3bp deletion NF1, there was also activation of the PI3K/AKT pathway. Pigment epithelium-derived factor was found to reduce cell proliferation and invasion of NF1 melanoma.

Conclusions
Melanocyte proliferation and migration leading to CALMs in NF1 arises from biallelic NF1 loss, resulting in RAS/MAPK pathway activation, and reduced expression of the tumour suppressor PEDF. Activation of the PI3K/AKT pathway in classical NF1 and NF1 melanoma may facilitate tumour growth.
Primary Vulval Melanoma and Genital Lichen Sclerosus
Authors: Mastoraki Evanthia , Kravvas Georgios , Dear Kate , Sim Sharmaine , James Mariel , Watchorn Richard , Haider Aiman , Ellery Peter , Freeman Alex , Basha Mahfooz , Edmonds Emma , Bunker Christopher B. 
Published: June 2024

Abstract

Background
Lichen sclerosus (LS) is a chronic, inflammatory skin disease with a predilection for the genitalia. Although, the association between squamous cell cancer and genital LS is well established, a link with genital melanoma has not been thoroughly explored. However, we have recently published a case series of penile melanoma where 9/11 (82%) of patients seen over a 10 year period with penile melanoma were retrospectively found to have histological and/or clinical evidence of genital LS on review.

Objectives
The aim of this study was to illuminate further the relationship between vulval melanoma and genital LS by reviewing all the cases managed by our hospital and undertaking a literature review.

Methods
We identified all the cases with a diagnosis of vulval melanoma over a 16-year period (2006–2022) where histology was available. The clinical notes were retrospectively reviewed, and the histological features of all cases were reassessed by two independent mutually ‘blinded’ histopathologists. We also performed a literature review of genital LS in patients with vulval melanoma.

Results
A total of 11 patients with vulval melanoma were identified for the review. Histopathological review found evidence of genital LS in seven of them (64%). Genital LS was not documented in any of the original histology reports. Clinical notes and letters were available in nine cases. The literature review identified 12 relevant studies with a total of 18 patients. Twelve cases concerned adult women, and six concerned female children.

Conclusion
The presence of genital LS in as high as 64% of our vulval melanoma cases might indicate a causative relationship between genital LS and vulval melanoma. The pathogenesis of vulval melanoma remains largely unknown. Although ultraviolet radiation is an important pathogenic factor for cutaneous melanoma, it cannot be a factor in vulval melanoma. While possible mechanisms behind this association remain unclear, it is possible that chronic inflammation from genital LS leads to melanocytic distress and increased mutagenesis.