bluuebunny/crossref_metadata_2025_split huggingface dataset:
Double Trouble: A Comprehensive Study Into Unrelated Genetic Comorbidities in Adult Patients with Facioscapuluhumeral Muscular Dystrophy Type I
Authors: Sacconi Sabrina , Puma Angela , Tammam Giulia , Ezaru Andra , Slioui Abderhmane , Monforte Mauro , Tasca Giorgio , villa luisa , Cavalli Michele , Salviati Leonardo , Vliet Patrick van der , Lemmers Richard , Pini Jonathan , Maarel Silvère van der 
Published: September 2024

Abstract

Facioscapulohumeral dystrophy type 1 (FSHD1) displays prominent intra- and interfamilial variability, which complicates the phenotype-genotype correlation. In this retrospective study, we investigated FSHD1 patients classified as category D according to the Comprehensive Clinical Evaluation Form (CCEF), a category defined by FSHD patients showing uncommon clinical features, to identify genetic causes explaining these uncommon phenotypes. Demographics, clinical data and clinical scales of FSHD1 patients were retrospectively evaluated. Patients were divided into four CCEF categories, and comparisons between groups were performed. In category D, when uncommon features suggested the presence of an unrelated genetic disease, a more extensive collection of data was performed. 157 FSHD1 patients were included in the study (82 males, 75 females) with mean age of 52.1 ± 13.5 years at the time of the study. D4Z4 repeat sizes ranged between 2 and 10 RU. According to the CCEF, 114 patients were classified into category A, 8 into category B and C each, and 27 into category D. In category D, 9 patients presented uncommon features related to commonly acquired comorbidities, whereas in the remaining 18 patients, all but two with upper-sized FSHD1 D4Z4 repeats (7–10 RU), we suspected an unrelated genetic neurological disease based on clinical phenotype. In 14/18 patients, we identified FSHD-unrelated genetic causes, most often unrelated repeat expansion disorders. This emphasizes the need of careful clinical and genetic work-up to avoid confusion between FSHD-intrinsic clinical variability and clinical features unrelated to the disease.
The Clinical Phenotypes and Therapeutic Strategies for Stiff Skin Syndrome: A Case Series with Literature Review
Authors: Zhang Caihui , Gao Sihao , Sun Zhixing , Wang Tao , Song Hongmei 
Published: September 2024

Abstract

Background
Stiff skin syndrome (SSS) is a rare, non-inflammatory skin disease with a pronounced limitation on joint motion. We reported 16 Chinese pediatric patients with SSS in our center and summarized the clinical features of the disease through literature review.
Results
A retrospective study was conducted on 16 pediatric patients diagnosed with SSS at Peking Union Medical College Hospital between January 2014 and January 2024, based on clinical manifestations, laboratory tests, and skin biopsy findings. Among these cases, two were classified as segmental SSS, and 14 as widespread SSS. Additionally, a review of relevant literature published between January 2000 and January 2024 involving 138 cases of pediatric SSS was also conducted. The clinical characteristics, treatment, and prognosis of these 154 patients were summarized. The age of onset in patients was 2.0(0.5, 4.8) years, with an average age at diagnosis of 9.0(5.0, 13.0) years. Thigh skin sclerosis (81, 52.6%) was the most common manifestation observed in these patients. Joint restriction was present in 55(35.7%) patients. Patients with joint contractures had longer diagnostic delays compared to those without joint contractures. The treatment primarily involved physical therapy, while some patients received medications such as mycophenolate mofetil (MMF), losartan, and secukinumab. However, the prognosis varied among patients.
Conclusion
The diagnosis of SSS should involve a thorough investigation of family history, detailed physical examination, comprehensive pathological assessment, potential genetic testing, and careful exclusion of other scleroderma-like diseases. Currently, there are various available treatment options targeting the TGF-β or IL-17 pathways, such as MMF, losartan, and secukinumab, which shows promise in slowing disease progression. Nevertheless, these treatments are incapable of reversing established skin lesions, and further trials are imperative to assess their therapeutic efficacy in SSS.
Gastrocnemius Myocutaneous Flap for Coverage of Knee Defects in the injuries of popliteal artery: A clinical case report
Authors: Zarch Mohammadali Babaei , mahmoudi samira 
Published: September 2024

Abstract

Introduction
Reconstruction of defects caused by trauma and open fractures in knee is one of the important issues of reconstructive surgeries. The use of the gastrocnemius muscle flap has become an excellent choice for coverage of Knee Defects. But the surgical management Gastrocnemius Myocutaneous Flap in the injuries of popliteal artery remains a challenging therapeutic problem. The purpose of this article was to present a case of successful knee gastrocnemius flap in a patient with popliteal artery injuries.
Case report
In 2024, a 46-year-old woman with tibia fracture and popliteal artery injury went to the emergency room of Namazi Hospital. In the first stage, the external fixator of the tibia bone was performed to fix the fracture. Then popliteal artery anastomosis was performed. After two weeks, all internal implants were removed due to abscess. Four weeks later, the patient's skin developed necrosis and was repaired using Medial hemi Gastrocnemius Myocutaneous flaps (MHGMF).
Conclusion:
We present a case of the successful use of MHGMF for Coverage of Knee Defects in the injuries of popliteal artery.
Practice and application of learning curve theory in improving prescription review skills in standardized training for pharmacists in medical institutions
Authors: Xu Jingjing , He Qin , Xu Min , Fu Kun , Luo Jiao , Ma Ying , Liu Xu , Xi Hen 
Published: September 2024

Abstract

Objective
To explore the practice and application of learning curve theory in improving prescription review skills in standardized training for pharmacists in medical institutions, and to provide reference for enhancing the effectiveness of standardized training for pharmacists in medical institutions.
Method
A retrospective analysis was conducted on the relevant data of 20 students who participated in our hospital's standardized pharmacist training in 2022 and 2023 during their prescription review practice learning process. The prescription review practice learning process is divided into 10 stages, with 100 prescriptions in each stage. Three indicators, namely the time spent on the review operation (A1), the accuracy of the review result judgment (A2), and the proficiency of the review system operation (A3), are quantified. The cumulative sum control chart method of binary variables (CUSUM) is used to establish the benchmark target value of the evaluation indicators and the success rate standard of the evaluation indicators. The cumulative sum of the evaluation indicators of the research object is calculated (∑=A1 + A2 + A3), and a learning curve is drawn. The polynomial curve is fitted, and the fitting function y is differentiated and the derivative is obtained. The derivative value of each stage corresponds to the slope k of each point on the fitting curve. When the value of k changes from positive to negative, it successfully crosses the learning curve.
Results
Through accumulation and analysis, the scatter plot was fitted with a curve to obtain the best fitting model. The fitted curve reached a peak crossing in the sixth stage of prescription review, and the curve changed from rising to falling from this point. The k value of the curve was negative, and the prescription review ability crossed the learning curve. Prescription review learning transitioned from the improvement stage to the proficiency stage.
Conclusion
With the accumulation of prescription review sheets, the prescription review ability and proficiency of the trainees gradually improve. After the sixth stage, they reach proficiency, and the time spent is significantly shortened compared to the learning stage. The accuracy of the review results is significantly improved, and the system operation proficiency meets the standard. By studying the learning curve, regulatory training institutions can provide teachers with a more scientific reference, which can serve as an evaluation standard for the effectiveness of standardized training in pharmacist prescription review.
Biophysical mapping of TREM2-ligand interactions reveals shared surfaces for engagement of multiple Alzheimer’s disease ligands
Authors: Greven Jessica , Wydra Joshua , Greer Rory , Zhi Cynthia , Camitta Christopher , Song Yuhua , Alexander-Brett Jennifer , Brett Thomas John 
Published: September 2024

Abstract

TREM2 is a signaling receptor expressed on microglia that has emerged as an important drug target for Alzheimer’s disease and other neurodegenerative diseases. While a number of TREM2 ligands have been identified, little is known regarding the structural details of how they engage. To better understand this, we created a protein library of 28 different TREM2 variants that could be used to map interactions with various ligands using biolayer interferometry. The variants are located in previously identified putative binding surfaces on TREM2 called the hydrophobic site, basic site, and site 2. We found that mutations to the hydrophobic site ablated binding to apoE4 and TDP-43. Competition binding experiments indicated that apoE4 and oAb42 share overlapping binding sites on TREM2. In contrast, binding to C1q was disrupted most strongly by mutations to the basic site, including R46, with some mutations to the hydrophobic site also attenuating binding, thus suggesting a broader mediation of binding across the two sites. Supporting this, competition experiments indicated that C1q binding could be blocked by both apoE and oAb42. TREM2 binding to IL-34 was mediated by the basic site at a surface centering on R76. Competition binding experiments validated the unique site for IL-34, showing little to no competition with either oAb42 or apoE4. However, competition experiments between C1q and IL34 suggest that the ligands compete for binding at the basic site. Altogether, our results suggest that TREM2 utilizes the hydrophobic site (consisting of CDR1, CDR2, and CDR3) as a common site to engage multiple ligands, and uses distinct basic sites to engage others. Our findings imply that pharmaceutical strategies targeting these surfaces might be effective to modulate TREM2 functions.
Extracellular vesicles from microglial cells activated by abnormal heparan sulfate oligosaccharides from Sanfilippo patients impair neuronal dendritic arborization
Authors: Dias Chloé , Ballout Nissrine , Morla Guillaume , Alileche Katia , Santiago Christophe , Guerrera Chiara Ida , Chaubet Adeline , Ausseil Jerome , Trudel Stephanie 
Published: September 2024

Abstract

Background
In mucopolysaccharidosis type III (MPS III), a pediatric neurodegenerative disorder, accumulation of abnormal glycosaminoglycans (GAGs) induces severe neuroinflammation by triggering the microglial pro-inflammatory cytokines production via a TLR4-dependent pathway. But the extent of the microglia contribution to the MPS III neuropathology remains unclear. Extracellular vesicles (EVs) mediate intercellular communication and are known to participate in the pathogenesis of adult neurodegenerative diseases. However, characterization of the molecular profiles of EVs released by MPS III microglia and their effects on neuronal functions have not been described.
Methods
Here, we isolated EVs secreted by the microglial cells after treatment with GAGs purified from urines of MPS III patients (MPS III-EVs) to explore the EVs’ proteins and small RNA profiles using LC-MS/MS and RNA sequencing. We next performed a functional assay by immunofluorescence following wild-type (WT) or MPS III-EVs uptake by WT primary cortical neurons and analyzed their extensions metrics after staining of βIII-tubulin and MAP2 by confocal microscopy.
Results
Functional enrichment analysis for both proteomics and RNA sequencing data from MPS III-EVs revealed a specific content involved in neuroinflammation and neurodevelopment pathways. Treatment of cortical neurons with MPS III-EVs induced a disease-associated phenotype demonstrated by a lower total neurite surface area, an impaired somatodendritic compartment, and a higher number of immature dendritic spines.
Conclusions
This study shows, for the first time, that GAGs from patients with MPS III can induce microglial secretion of EVs that deliver a specific molecular message to recipient naive neurons, while promoting the neuroinflammation, and depriving neurons of neurodevelopmental factors. This work provides a framework for further studies of biomarkers to evaluate efficiency of emerging therapies.
Bile Acid Derivatives as Novel Co-adsorbents for Enhanced Performance of Blue Dye-Sensitized Solar
Cells
Authors: Freitag Marina , Sasistharan Kezia , Abarca Allan J. Mora , Tellini Victor Soto , Cucinotta Fabio , Pineda Leslie 
Published: September 2024

Abstract

Diketopyrrolopyrrole-based blue dyes in dye-sensitized solar cells (DSCs) exhibit promise for building-integrated photovoltaics, but their efficiency is compromised by dye aggregation-induced charge recombination. Novel bile acid derivative co-adsorbents featuring bulky hydrophobic substituents at the 3-position were synthesized to address this challenge. These molecules, designed to modulate intermolecular electronic interactions, effectively altered the TiO2 surface coverage dynamics, as evidenced by UV-Vis spectroscopy and dye-loading kinetics. Systematic variation of hydrophilic substituents revealed structure-function relationships in dye separation efficacy. Devices incorporating these co-adsorbers achieved power conversion efficiencies (PCE) of 7.6%, surpassing reference devices (5.2%) and those using conventional chenodeoxycholic acid co-adsorbers (6.4%). The optimized devices exhibited a 30% increase in short-circuit current density, 30 mV enhancement in open-circuit voltage, and 60% peak external quantum efficiency at 550 nm. Time-resolved photoluminescence spectroscopy confirmed suppressed non-radiative recombination, while transient absorption spectroscopy revealed accelerated electron injection rates from 6.4 ps to 4.6 ps. Electrochemical impedance spectroscopy elucidated the mechanism of reduced interfacial recombination. These findings present a molecular engineering strategy for mitigating lateral charge transfer in planar dye systems, advancing semi-transparent hybrid photovoltaics
An Evaluation of Usability and Security in Mobile Banking
Authors: Adediran Olawale E 
Published: September 2024

Abstract

Mobile banking applications are currently popular because of COVID-19 restrictions, which have led to more people using remote alternatives for services. Some security control exists in mobile banking applications, for instance, whenever a customer sends money to a payee for the first time. This research will evaluate the usability of security in mobile banking applications in England. This study aimed to evaluate the extent to which modern existing mobile banking apps adhere to usability standards, users' perceptions of the overall user experience using these mobile apps for everyday tasks and what constitutes "usability" to them, and users' perceptions of the general sense of safety and trustworthiness, e.g., what constitutes "security", to them. The data for this project were collected using the System Usability Scale (SUS tool) questionnaire. Two usability studies were conducted to derive a high SUS score of 80.5, which falls within the 86% percentile range. During the study, it was discovered that people want a secure platform in the context of security that should not be mistaken for multiple security checks. The number of screens/longer the user flow is, the less usable the product is. Security is better in the background by the system than by the user for a better usable product. Subtle security tips that do not increase the user flow where the user can explore if they want are more effective in terms of security and result in better usability.
Cyclic Performance of Reinforced Concrete Walls with NiTi Reinforcement: A Numerical Investigation
Authors: ali dina , Z. Ahmed F. , El-kashif Khaled 
Published: September 2024

Abstract

Shape memory alloys (SMAs) are a promising new material for reinforcing concrete structures to sustain severe lateral loads. Their excellent shape recovery after significant strain makes them very attractive for seismic applications compared with ordinary steel. Nickel-titanium alloy (NiTi) is one of the most common types of shape memory alloy (SMA). In the current paper, a numerical analysis is conducted to evaluate the behavior of hybrid NiTi-reinforced concrete shear wall compared to an ordinary wall subjected to lateral cyclic displacement. The enhancement in shear wall capacities is investigated in terms of hysteretic behavior, wall ductility, and inter-story drift ratio. Therefore, three-dimensional modelling utilizing ANSYS 19 is conducted to examine the influences of numerous parameters, such as NiTi reinforcement ratio, loading direction, number of loads cycles stirrups spacing, and axial load intensity. The results showed that the NiTi-Wall exhibited a maximum displacement capacity, which is increased by an average of 38.5%. Additionally, it displayed the greatest ductility and drift capacity, with average increases of 15% and 20.8%, respectively, compared to ordinary walls. As the number of load cycles increased, NiTi bars demonstrated a significant improvement in drift capacity, with an average increase of 27.5%.
Phosphorus fertilizer responsive bacteria and fungi in canola (Brassica napus L.) roots are correlated with plant performance
Authors: Liu Mengying , Mooleki Patrick , Schneider Dave , Kochian Leon V. , Helgason Bobbi L. 
Published: September 2024

Abstract

Background
Canola (Brassica napus L.) has high phosphorus demand, but its seedlings are sensitive to seed-placed phosphorus fertilizers. Optimizing phosphorus fertilizer managements (rates and placements) for canola is critical and can be aided by a better understanding of the root-associated microbiome, as it plays key roles in improving phosphorus availability through mineralization and solubilization.
Methods
We conducted a two-year field experiment applying monoammonium phosphate fertilizers at three rates (no addition, recommended, and high rates at 0, 17, and 32 kg P ha− 1 year− 1) using two opener placements (narrow at 2.5 cm vs. wide at 10 cm) which affect seedbed concentration of phosphorus. Canola performance was evaluated, and rhizosphere and root bacterial and fungal microbiomes were profiled by DNA amplicon sequencing.
Results
High-rate and near-seed placement of phosphorus (32 kg P ha− 1 in the 2.5 cm opener) consistently reduced canola seedling emergence but not biomass and yield, which were higher in 2020 than in 2019. Yearly variations and plant growth stages impacted both the rhizosphere and root microbiomes, while phosphorus fertilization only affected the root microbiome. Specifically, phosphorus fertilization enriched root genera Burkholderia-Caballeronia-Paraburkholderia, Luteibacter, Amaurodon, Trichoderma, and Penicillium. Conversely, Chryseobacterium, Chitinophaga, Flavobacterium and Olpidium were more prevalent in roots without phosphorus addition. Canola yield was positively correlated with the abundance of Burkholderia-Caballeronia-Paraburkholderia and Trichoderma in roots.
Conclusions
Phosphorus fertilizer rates and placements affect canola germination but not seed yield. Profiling of phosphorus-responsive bacteria and fungi in the roots suggests that phosphorus fertilization can have a lasting impact on the canola root microbiome, modulating plant growth responses to soil phosphorus availability.
Classification of Cold Vortex Snowstorms in Northeast China Based on K- means Clustering Algorithm and their Features
Authors: Wang Yue , Liu Chenghan , Fang Yihe , Jiao Haoran , Liu Jing , Zhou Feng 
Published: September 2024

Abstract

Based on the fifth-generation atmospheric reanalysis of the global climate released by the European Centre for Medium-Range Weather Forecasts (ECMWF), this study firstly objectively identifies the Northeast cold vortex (NECV) processes during the winters from 1951 to 2021. Subsequently, using the observational data from 245 meteorological stations in Northeast China, cold vortex snowstorm (CVS) events in Northeast China are defined and further classified into three types based on the NECV intensity, which are named as northwestern-path, southern-path and northern-path types according to the movement paths of the associated NECVs. The results show that for CVSs of the southern-path type, the NECVs feature the southernmost position, with the whole Northeast China dominated by abnormal cyclone at 850 hPa. For CVSs of the northern-path type, there are two abnormal cyclones in a stepped distribution. However, at the sea level, the surface systems of the southern-path and northern-path types develop into cyclones, leading to distinct moisture transport paths among the three types. The high moisture flux regions correspond well with the snowfall area across all three types, as do the high moisture divergence regions with the extreme snowfall regions. The upper-level jet core is located near 30°N. As the Northeast China region is situated north of the upper-level jet exit, the upward motions in the southern-path and northern-path types are stronger than that in the northwestern-path type. For CVSs of the northern type, significant positive vorticity is located away from the snowstorm center. Warm advection dominates the region from the lower to middle troposphere, and strong upward motion lifts warm and humid air, thereby resulting in the snowstorm. CVSs of the northwestern-path type intermediate in upper-lower level configurations between the other two types. For CVSs of the southern-path type, there is a deep vertical system. Cold advection prevails the mid-to-low levels over the snowfall area, which provides a cold cushion near the ground that forces warm and humid air to ascend, thereby producing heavy snow. Furthermore, the downward extension of the high-level potential vorticity to the mid-to-low levels, along with the intrusion of dry-cold air from the upper levels into the mid-to-low levels facilitate the persistence of the cold vortex and the intensification of snowfall.
Robust Framework for Scalable AI Inference Using Distributed Cloud Services and Event-driven Architecture
Authors: Jani Yash , Jani Arth 
Published: September 2024

Abstract

The deployment and scaling of AI models in production present challenges in ensuring efficient inference while maintaining cost-effectiveness and scalability. This paper proposes a robust framework using AWS services, including Elastic Beanstalk, SQS, EC2 instances with GPUs, EventBridge, Step Functions, API Gateway, and a hybrid approach with spot and on-demand instances. Elastic Beanstalk handles incoming requests and routes them to SQS for asynchronous processing. API Gateway manages rate limiting, while EventBridge and Step Functions dynamically scale the infrastructure. EC2 instances are pre-configured with AI scripts via EC2 Image Builder, requests are retrieved from SQS, models from Hugging Face are processed, and results are stored in Cloudflare. This architecture ensures high availability and responsiveness, optimizing performance and cost. Comprehensive experiments demonstrate the framework's effectiveness in handling varying inference demands, showing significant scalability, resource utilization, and operational efficiency improvements.