bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genotype–Phenotype Spectrum of 52 Mexican Patients With Fabry Disease: A Novel GLA Variant With Atypical Phenotype
Authors: Kimball Tamara N. , Rivero‐García Pamela , Argaiz Eduardo R. , Gaytan‐Arocha Jorge Eduardo , Uribe Norma Ofelia Uribe , Suárez Juan José Morales 
Published: December 2024

ABSTRACTIntroductionFabry disease (FD) is a rare lysosomal type 3 disorder with an X‐linked inheritance pattern caused by pathogenic variants in the GLA gene. This study aimed to describe the genotype and phenotype of 52 Mexican patients with FD.MethodsWe included 12 patients with clinical and molecular diagnosis of FD treated at our institution and 40 FD Mexican patients already reported in the literature.ResultsThe most frequent manifestations were acroparesthesias (71.2%), hypohidrosis or anhidrosis (48.1%), heat intolerance (46.2%), and proteinuria (42.3%). Renal and neurological manifestations were more prevalent in males than females. Cardiac involvement included hypertrophic cardiomyopathy and Wolf–Parkinson–White arrhythmia. Cornea verticillata was seen in 14 patients (26.9%) and angiokeratomas in 15 (28.8%). We identified 14 variants in the GLA gene in Mexican patients with FD. We found a novel variant GLA c.122C>G that causes an atypical FD phenotype with predominantly neurological involvement in two unrelated patients, one of them with a forthright clinical and radiological overlap of Multiple Sclerosis and normal biological biomarkers, thus requiring a renal biopsy that helped confirm the diagnosis of FD.ConclusionsThe genotype and phenotype of Mexican patients with FD are similar to other populations. Atypical phenotype of FD, such as the one associated with the novel variant c.122C>G, can be a diagnostic challenge, as it can be mixed up with MS. Our findings confirm the limitations of noninvasive diagnostic methods and the necessity of the renal biopsy when the clinical suspicion of FD is high.
A Novel Mutation Located in the N‐Terminal Domain of MYO15A Caused Sensorineural Hearing Loss
Authors: Wang Yanli , Liu Zengping , Li Yong , Nie Zhipeng , Xu Baicheng , Zhu Yiming , Duan Shihong , Chen Xingjian , Tan Huan , Dang Jiong , Guan Minxin , Guo Yufen 
Published: December 2024

ABSTRACTBackgroundMYO15A is one of the common genes of severe‐to‐profound sensorineural deafness. Mutations in this gene can cause both pre‐ and post‐lingual hearing losses. In this study, a novel MYO15A variant (c.2482C>T) was identified to be associated with autosomal recessive non‐syndromic hearing loss (ARNSHL) in a Chinese Uighur family.MethodsTo examine the effects of the MYO15A mutation on the morphology and function of the derived hair cell‐like cells, two iPSCs were generated separately from the proband and a mutation‐negative family member and those were then induced to hair cell‐like cells.ResultsResults showed that this homozygous MYO15A mutation (PVS1 + PM2 + PP1 + PP3), which is located in the N‐terminal domain, displayed significant differences in the morphology and function of hair cell‐like cells between the proband and the normal control, although it had no effect on the totipotency of iPSCs.ConclusionOur study demonstrates that the novel variant c.2482C>T in the MYO15A gene may cause inner ear hair cell dysfunction and audiological disorders in this family.
Analytik: Tomographie mit Eisenoxid
Authors: Rösch Esther S. 
Published: December 2024

AbstractBei der Magnetpartikel‐Bildgebung (MPI) werden magnetische Partikel in die Blutbahn injiziert und sichtbar gemacht. Das geht schneller und ist teils weniger schädlich als Techniken, die aktuell in der Klinik eingesetzt werden. Bis MPI soweit ist, wird geforscht: Wie sich kürzlich herausstellte, lassen sich die Partikel in veränderter Umgebung wiederfinden, wenn sie in einer Polymerhohlkugel eingeschlossen sind.
Mehr Wasserstoff mit weniger Iridium
Authors: Birth Arne , Sievers Gustav 
Published: December 2024

AbstractGrünen Wasserstoff mit erneuerbaren Energien herzustellen, ist derzeit unökonomisch. Eine neue Methode, um Membran‐Elektronen‐Einheiten für die Wasserelektrolyse zu fertigen, könnte helfen.
Graduate School zu Nucleinsäurechemie
Authors: Richert Clemens 
Published: December 2024

AbstractMitte September trafen sich etwa 50 Promovierende der Nucleinsäurechemie zum siebten Doktorandenseminar der Deutschen Nucleinsäurechemiegemeinschaft e.V. (DNG) in Bad Herrenalb. Die Veranstaltung findet alle zwei Jahre statt; dieses Mal schloss sie Promovierende aus Tschechien ein und war auf Englisch. Zum Programm gehörten vier Kurzworkshops und drei Methodenvorträge. Außerdem hielten 11 Doktorand:innen Vorträge und 19 gaben Poster‐Flashtalks. Die Themen reichten von therapeutischen Nucleotiden bis Einzelmolekülvisualisierung.
Risk of developing neuroblastoma influenced by maternal stressful life events during pregnancy and congenital pathologies
Authors: Benavent Nuria , Cañete Adela , Moreno Lucas , Gros Luis , Verdú‐Amorós Jaime , Salinas Jose Antonio , Navarro Samuel , Álvaro Tomas , Carbonell‐Asins Juan Antonio , Noguera Rosa 
Published: December 2024

AbstractObjectiveA retrospective multicenter study to investigate the potential association between descriptive information related to pregnancy history and perinatal features and the risk of neuroblastoma (NB) in children.Study designData from 56 mothers during 105 pregnancies (56 cases of NB, 49 control siblings) were collected through face‐to‐face or telephone interviews with mothers of children diagnosed with NB, along with information extracted from Health System databases. Descriptive information related to (a) pregnancy history as maternal stressful life events with perceived distress during pregnancy, weight gain, alcohol and tobacco consumption, mode of delivery and gestational age; and (b) perinatal features as congenital pathologies, weight at birth and type of feeding were examined to identify potential risk factors for NB.ResultsStressful life events during pregnancy and certain congenital pathologies were independently associated with NB risk. No significant associations were found between other features. Breastfeeding rates were similar between cases and controls.ConclusionOur results underscore the importance of providing support and care to pregnant women to reduce potential stressors. Further research is needed to better understand the influence of dysbiosis and mitochondrial‐nuclear communication impairment as underlying mechanisms of maternal stress during pregnancy and presence of congenital pathologies in order to confirm them as potential risk factors for NB.
Sí se puede: The enduring legacy of Mexico on wine and politics
Authors: Chitwood Daniel H. , Delaye Luis , Domínguez‐Castro Cristina , Hernández‐López Antonio , López‐Medellín Xavier , Mojica‐Muñoz Diana Margarita , Rougon‐Cardoso Alejandra 
Published: December 2024

Societal Impact StatementThe cultural significance of the grapevine is undeniable. However, we fail to acknowledge how the grapevine has and continues to influence the most pressing political questions of our time. From the beginning of the Conquest, Indigenous peoples were forced to plant the vine, Spain burned the vines Miguel Hidalgo used to teach the poor, and César Chávez and the Delano grape strike demanded justice for agricultural laborers. From the Grito de Dolores to Sí se puede, we demonstrate how the continuing relationship between Mexico and the grapevine influences debates surrounding labor, immigration, and human rights in the United States and throughout the world. To enhance the reach of this work, a Spanish language version of the paper is available in the Supporting Information (see Translation_ES).SummaryThe wild grapevine species (Vitis spp.) that comprise the pedigrees of rootstocks, the Americas as the source (and solution) to the Phylloxera crisis that decimated European vineyards, and California as a premier wine‐growing region are the topics that usually frame the history of grapes in North America. This Anglo‐American perspective ignores that domesticated grape varieties were first introduced to North America in what is now Mexico and the singular contributions of Mexican labor to the California wine economy that continue to influence politics. Here, we highlight the neglected history of grapevines in Mexico and argue that the politics of labor that played out during the Conquest never ceased and still shape debates surrounding immigration. Beginning with Hernán Cortés, Indigenous peoples were forced to plant grapevines and when they were successful, they were abruptly forbidden by Spain to grow grapes. This interference influenced Miguel Hidalgo, who taught the poor viticulture as a trade and who would lead the Mexican War of Independence and pay with his life. The grapevine continued its journey north to California, where Franciscans established the missions and cultivated the Mission grapes, which had lasting impacts on the genetics of grapevine varieties. Finally, it was the Delano grape strike that coalesced César Chávez and the United Farm Workers to demand justice for agricultural laborers that is the foundation of the California wine economy and still shapes the current political debate of immigration, labor, and human rights between the United States and Mexico.
Bayesian Decision Curve Analysis With Bayesdca
Authors: Netto Flores Cruz Giuliano , Korthauer Keegan 
Published: December 2024

ABSTRACTClinical decisions are often guided by clinical prediction models or diagnostic tests. Decision curve analysis (DCA) combines classical assessment of predictive performance with the consequences of using these strategies for clinical decision‐making. In DCA, the best decision strategy is the one that maximizes the net benefit: the net number of true positives (or negatives) provided by a given strategy. Here, we employ Bayesian approaches to DCA, addressing four fundamental concerns when evaluating clinical decision strategies: (i) which strategies are clinically useful, (ii) what is the best available decision strategy, (iii) which of two competing strategies is better, and (iv) what is the expected net benefit loss associated with the current level of uncertainty. While often consistent with frequentist point estimates, fully Bayesian DCA allows for an intuitive probabilistic interpretation framework and the incorporation of prior evidence. We evaluate the methods using simulation and provide a comprehensive case study. Software implementation is available in the bayesDCA R package. Ultimately, the Bayesian DCA workflow may help clinicians and health policymakers adopt better‐informed decisions.
Efficient Risk Assessment of Time‐to‐Event Targets With Adaptive Information Transfer
Authors: Ding Jie , Li Jialiang , Xie Ping , Wang Xiaoguang 
Published: December 2024

ABSTRACTUsing informative sources to enhance statistical analysis in target studies has become an increasingly popular research topic. However, cohorts with time‐to‐event outcomes have not received sufficient attention, and external studies often encounter issues of incomparability due to population heterogeneity and unmeasured risk factors. To improve individualized risk assessments, we propose a novel methodology that adaptively borrows information from multiple incomparable sources. By extracting aggregate statistics through transitional models applied to both the external sources and the target population, we incorporate this information efficiently using the control variate technique. This approach eliminates the need to load individual‐level records from sources directly, resulting in low computational complexity and strong privacy protection. Asymptotically, our estimators of both relative and baseline risks are more efficient than traditional results, and the power of covariate effects testing is much enhanced. We demonstrate the practical performance of our method via extensive simulations and a real case study.
Generalized Estimating Equations for Survival Data With Dependent Censoring
Authors: Yu Lili , Liu Liang 
Published: December 2024

ABSTRACTIndependent censoring is usually assumed in survival data analysis. However, dependent censoring, where the survival time is dependent on the censoring time, is often seen in real data applications. In this project, we model the vector of survival time and censoring time marginally through semiparametric heteroscedastic accelerated failure time models and model their association by the vector of errors in the model. We show that this semiparametric model is identified, and the generalized estimating equation approach is extended to estimate the parameters in this model. It is shown that the estimators of the model parameters are consistent and asymptotically normal. Simulation studies are conducted to compare it with the estimation method under a parametric model. A real dataset from a prostate cancer study is used for illustration of the new proposed method.
Investigating Gene Delivery Efficiency of Poly(β‐amino ester) Derived From Poly(ethylene glycol) Diacrylate
Authors: Ngo Dang Bao Tram , Dong Thi Anh Ngoc , Nguyen Khanh Vi , Kieu Trong Nghia , Nguyen Thi Thu Hoai , Thach Ut Dong 
Published: December 2024

AbstractPoly(β‐amino ester) (PβAE)‐based polymers hold promise for bacterial gene transfer due to their ability to form stable complexes with genetic material and facilitate efficient delivery into bacterial cells. These polymers are easily modified to improve uptake and protect DNA or RNA from degradation, providing a safer, more controlled alternative to traditional methods like chemical transformation or electroporation. In this study, we evaluated the gene transformation efficiency of cationic PβAE polymer, which was synthesized through an aza‐Michael addition reaction between piperazine and poly(ethylene glycol) diacrylate. Competent cells from E. coli strain DH5α were prepared with the optimized method using Ca2+ and Mg2+ ions. Different concentrations of the polymer were mixed with pRSET‐EmGFP before transforming into competent cells through the heat shock method. Transformed cells were checked on medium containing ampicillin, and by using colony PCR, transformation efficiency was calculated. Based on our findings, we observed a successful transformation of the EmGFP gene in case of having the polymer. Furthermore, the PβAE at high concentrations (20–100 ng µL−1) increased transformation efficiency more than twice as compared to the case of no polymer added. In conclusion, PβAE can effectively increase transformation efficiency.
Photocatalytic Degradation of PCB 153 Using Fe3O4@SiO2@TiO2‐Co Core‐Shell Nanocomposite
Authors: Alshahrani B. , Korna A. H. , Fares S. , Salman Montasir 
Published: December 2024

AbstractThis study investigates the photocatalytic degradation of PCB 153 using Fe3O4@SiO2@TiO2‐Co core‐shell nanocomposites under LED irradiation. The unique core‐shell structure, incorporating a magnetic Fe3O4 core, a protective SiO2 layer, and a photoactive TiO2 shell doped with Co, enhances light absorption, charge separation, and stability. The effects of various parameters, including catalyst dosage, initial pollutant concentration, solution pH, H2O2 concentration, reaction time, and cosolvent type, were investigated to optimize the degradation process. The results demonstrated the high efficiency of the Fe3O4@SiO2@TiO2‐Co nanocomposite in degrading PCB 153, with a maximum degradation efficiency of 95.2% under optimal conditions. The magnetic properties of the Fe3O4 core enable easy separation and recovery of the catalyst, making it a sustainable and cost‐effective solution. This study provides valuable insights into the design and application of advanced photocatalysts for environmental remediation.
Beyond Cumulative Scores: Distinct Patterns of Adverse Childhood Experiences and Their Differential Impact on Emotion, Borderline Personality Traits, and Executive Function
Authors: Xu Hang , Cai Jinping , Li Man , Yuan Yidan , Qin Hao , Liu Jing , Wang Weiwen 
Published: December 2024

ABSTRACTAdverse childhood experiences (ACEs) are associated with long‐lasting and multifaceted consequences for mental health. Despite established dose‐response effects of ACEs on mental health, the specificity of ACE pattern effects remains understudied, especially on executive function. This study aims to explore how specific patterns of ACEs, beyond just cumulative scores, differentially impact emotional symptoms, personality and cognitive function. This study recruited 2515 college students from several universities in northern China. Demographic characteristics, depression, anxiety, borderline personality traits, and executive function (Wisconsin Card Sort Test) were assessed. Latent class analysis was used to identify patterns of ACEs. Data were analysed using χ2‐test, ANCOVA, and multivariate linear regression methods. Pattern‐oriented and cumulative‐oriented approaches were compared to predict the effects of ACEs. Three distinct patterns of ACEs were identified: low adversity (LA), multiple adversity (MA), and family environment adversity (FA). FA with the highest number of ACEs was uniquely linked to executive function impairments, while both MA and cumulative ACEs significantly predicted higher anxiety, depression, and borderline personality traits. The pattern‐oriented method was more sensitive to capturing the diverse outcomes of executive function impairment than cumulative scores. Our findings highlight the importance of moving beyond cumulative scores and considering specific ACEs patterns to understand their differential impact on mental health. Identifying FA as a distinct pattern with specific consequences for executive function offers valuable insights into developing targeted prevention strategies tailored to specific risk profiles.
Recent progress of heterocycle ring‐opening (co)polymerization for the synthesis of sequence‐controlled block polyesters and polycarbonates
Authors: Zhao Hongyu , Hu Chenyang , Pang Xuan , Chen Xuesi 
Published: December 2024

AbstractAliphatic polyesters and polycarbonates are among the promising sustainable polymers, which exhibit unique degradability and chain‐chain interactions owing to their heterofunctionality. However, monocomponent aliphatic polyesters and polycarbonates usually suffer from inferior properties and functionalities. By contrast, precisely modulated block copolymers composed of polyesters and polycarbonates give rise to sustainable materials with tailored performance. An efficient approach to synthesize the block copolymers is the ring‐opening (co)polymerization of the heterocycle monomers. Herein, this review presents the heterocycle monomer ring‐opening (co)polymerization for the formation of sequence‐controlled block polyesters and polycarbonates. Available synthetic strategies, different monomers, monomer combinations and the catalyst systems for the formation of different block polyesters and polycarbonates are summarized.
Security Risks in the Encryption of Database Connection Strings
Authors: Rannells Ross , Hill James H. 
Published: December 2024

ABSTRACTBackgroundThere exists an important and open problem with the encrypting of database connection strings in that related connection strings start with well known identical initial sub‐strings. When these initial sub‐strings are longer than the encrypting algorithm's block size, the resulting encrypted text for related database connection strings will have identical initial sub‐strings which could increase the chance of breaking the encryption key used to encrypt the connection strings.AimsThe objective of our work was to find a simple, easy to implement, well known algorithm that would eliminate the identical initial sub‐strings in the encrypted text of related database connection strings.MethodsOur methodology was to apply an obfuscation function to the database connection strings before encrypting them with the 3DES and AES encryption algorithms. The obfuscation functions we chose for our tests were the Roman Keyword cipher or the Greek Scytale cipher.DiscussionThe results of applying the two obfuscation functions to the related database connection strings before encrypting them with the symmetric encryption algorithms. This process effectively eliminated the commonality in the encrypted text of the database connection strings.ConclusionWhile both the Keyword and Scytale obfuscation functions were able to eliminate the commonality in the encrypted text. We found that the Scytale function was superior to the Keyword function due to some minor limitations of the Keyword functions and the fact that the Scytale function geometrically increased the number of possible known strings within the plain text connection string before encryption.
Trajectory priming through obstacle avoidance in motor imagery – does motor imagery comprise the spatial characteristics of movement?
Authors: Roberts James W. , Wakefield Caroline J. , Owen Robin 
Published: December 2024

Abstract
Motor imagery and execution often indicate a similar trend in the temporal characteristics of movements. This finding supports the notion of functional equivalence, whereby imagery and execution use a common neural representation. However, there is comparatively limited evidence related to the spatial characteristics of movements; no doubt owing to the absence of an actual spatial trajectory during imagery. Therefore, we adapted the trajectory priming paradigm involving an obstacle, where the trajectory adopted in a trial (n) is directly contaminated by a previous trial (n-1). If imagery accurately represents the spatial characteristics, then we would predict a similar priming effect as execution. Participants completed a series of trial blocks under different imagery/execution protocols, where the test trial (n) comprised execution alone, while the previous trial (n-1) involved imagery or execution. Each block comprised pairs of trials with alternate or consistent presentations of a virtual obstacle (O) or no obstacle (N): N-N, N-O, O-N, O-O. For trial n-1 (imagery/execution), there was a more prolonged reaction and movement time for imagery compared execution. Most importantly for trial n (execution), there was an increase in early angular and peak deviation following an obstacle compared to no obstacle in trial n-1, but only when it was execution and not imagery. These findings suggest imagery holds a limited representation of the spatial characteristics, while functional equivalence may be limited to the temporal characteristics.