bluuebunny/crossref_metadata_2025_split huggingface dataset:
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment
Authors: Desguerre Isabelle , Barrois Rémi , Audic Frédérique , Barnerias Christine , Chabrol Brigitte , Davion Jean Baptiste , Durigneux Julien , Espil-Taris Caroline , Gomez-Garcia de la Banda Marta , Guichard Marine , Isapof Arnaud , Nougues Marie Christine , Laugel Vincent , Le Goff Laure , Mercier Sandra , Pervillé Anne , Richelme Christian , Thibaud Marie , Sarret Catherine , Schweitzer Cyril , Testard Hervé , Trommsdorff Valérie , Vanhulle Catherine , Walther-Louvier Ulrike , Altuzarra Cécilia , Chouchane Mondher , Ropars Juliette , Quijano-Roy Susana , Cances Claude 
Published: September 2024

Abstract
Background
Spinal muscular atrophy type 1 (SMA1) is the most severe and early form of SMA, a genetic disease with motor neuron degeneration. Onasemnogene abeparvovec gene transfer therapy (GT) has changed the natural history of SMA1, but real-world data are scarce.

Methods
A French national expert committee identified 95 newly diagnosed treatment-naive SMA1 patients between June 2019 and June 2022. We prospectively report on children treated with GT as the first and only therapy who had more than one-year of follow-up.

Results
Forty-six SMA1 patients received GT. Twelve patients received other treatments. Patients with respiratory insufficiency were oriented toward palliative care after discussion with families. Twenty-nine of the treated patients with more than 12 months of follow-up were included in the follow-up analysis. Among them, 17 had 24 months of follow-up. The mean age at treatment was 7.5 (2.1–12.5) months. Twenty-two patients had two SMN2 copies, and seven had three copies. One infant died in the month following GT due to severe thrombotic microangiopathy, and another died due to respiratory distress. Among the 17 patients with 24 months of follow-up, 90% required spinal bracing (15/17), three patients required nocturnal noninvasive ventilation, and two needed gastrostomy. Concerning motor milestones at the 24-month follow-up, all patients held their head, 15/17 sat for 30 s unassisted, and 12/17 stood with aid. Motor scores (CHOPINTEND and HINE-2) and thoracic circumference significantly improved in all patients.

Conclusions
Our study shows favorable motor outcomes and preserved respiratory and feeding functions in treatment-naive SMA1 infants treated by GT as the first and only therapy before respiratory and bulbar dysfunctions occurred. Nevertheless, almost all patients developed spinal deformities.
CFTR modulators response of S737F and T465N CFTR variants on patient-derived rectal organoids
Authors: Kleinfelder Karina , Melotti Paola , Hristodor Anca Manuela , Fevola Cristina , Taccetti Giovanni , Terlizzi Vito , Sorio Claudio 
Published: September 2024

Abstract
Background
Predictions based on patient-derived materials of CFTR modulators efficacy have been performed lately in patient-derived cells, extending FDA-approved drugs for CF patients harboring rare variants. Here we developed intestinal organoids from subjects carrying S737F- and T465N-CFTR in trans with null alleles to evaluate their functional impact on CFTR protein function and their restoration upon CFTR modulator treatment. The characterization of S737F-CFTR was performed in two subjects recently assessed in nasal epithelial cells but not in colonoids.

Results
Our functional analysis (Ussing chamber) confirmed that S737F-CFTR is a mild variant with residual function as investigated in colonoids of patients with S737F/Dele22-24 and S737F/W1282X genotypes. An increase of current upon Elexacaftor/Tezacaftor/Ivacaftor (ETI) treatment was recorded for the former genotype. T465N is a poorly characterized missense variant that strongly impacts CFTR function, as almost no CFTR-mediated anion secretion was registered for T465N/Q39X colonoids. ETI treatment substantially improved CFTR-mediated anion secretion and increased the rescue of mature CFTR expression compared to either untreated colonoids or to dual CFTR modulator therapies.

Conclusions
Our study confirms the presence of a residual function of the S737F variant and its limited response to CFTR modulators while predicting for the first time the potential clinical benefit of Trikafta® for patients carrying the rare T465N variant.
Sex-specific hypothalamic neuropathology and glucose metabolism in an amyloidosis transgenic mouse model of Alzheimer’s disease
Authors: Qi Guibo , Tang Han , Gong Pifang , Liu Yitong , He Chenzhao , Hu Jianian , Kang Siying , Chen Liang , Qin Song 
Published: September 2024

Abstract
Background
Amyloid toxicity and glucose metabolic disorders are key pathological features during the progression of Alzheimer’s disease (AD). While the hypothalamus plays a crucial role in regulating systemic energy balance, the distribution of amyloid plaques in the preoptic, anterior, tuberal, and mammillary regions of the hypothalamus in AD mice, particularly across both sexes, remains largely unclear. Our ongoing research aims to explore hypothalamic neuropathology and glucose metabolic disturbances in a well-described APP/PS1 mouse model of AD.

Results
Immunocytochemical staining revealed that Old-AD-Female mice exhibited a greater hypothalamic Amyloid β (Aβ) burden than their Old-AD-Male counterparts, with the mammillary bodies showing the most severe accumulation. Analysis of ionized calcium binding adaptor molecule 1 (IBA1) immunoreactivity and Iba1 mRNA indicated differential microgliosis based on sex, while tanycytic territory and ZO-1 tight junction protein expression remained stable in AD mice. Moreover, sex-specific peripheral glucose metabolic parameters (random and fasting blood glucose) seemed to be exacerbated by age. Old AD mice of both sexes exhibited limited hypothalamic activation (c-Fos + cells) in response to blood glucose fluctuations. Hypothalamic Glut 1 expression decreased in young but increased in old female AD mice compared with age-matched male AD mice. Pearson correlation analysis further supported a negative correlation between hypothalamic Aβ load and random blood glucose in old AD groups of both genders, shedding light on the mechanisms underlying this amyloidosis mouse model.

Conclusion
Aged APP/PS1 mice exhibit sex-specific hypothalamic neuropathology and differential glucose metabolism, highlighting distinct pathological mechanisms within each gender.
Compression of room impulse responses for compact storage and fast low-latency convolution
Authors: Jälmby Martin , Elvander Filip , van Waterschoot Toon 
Published: September 2024

AbstractRoom impulse responses (RIRs) are used in several applications, such as augmented reality and virtual reality. These applications require a large number of RIRs to be convolved with audio, under strict latency constraints. In this paper, we consider the compression of RIRs, in conjunction with fast time-domain convolution. We consider three different methods of RIR approximation for the purpose of RIR compression and compare them to state-of-the-art compression. The methods are evaluated using several standard objective quality measures, both channel-based and signal-based. We also propose a novel low-rank-based algorithm for fast time-domain convolution and show how the convolution can be carried out without the need to decompress the RIR. Numerical simulations are performed using RIRs of different lengths, recorded in three different rooms. It is shown that compression using low-rank approximation is a very compelling option to the state-of-the-art Opus compression, as it performs as well or better than on all but one considered measure, with the added benefit of being amenable to fast time-domain convolution.
Biologically engineered probiotic supplement production containing phytase enzyme for livestock, poultry, and aquaculture consumption
Authors: Bandari Narjes Mohammadi , Abootaleb Mohammad , Nikokar Iraj , Karimli Mohammad 
Published: September 2024

Abstract
Background
Livestock and aquaculture feed rely heavily on cereals, fish meal, and plant proteins, but these ingredients are not fully utilized by animals, and alternative protein sources are needed due to rising demand, unstable resources, and high prices. However, plant-based materials contain phytic acid or phytate, making phosphorus less available to monogastric animals. Bacterial phytases can effectively release phosphorus from phytate in the digestive system, making them cost-effective and a potential alternative to traditional sources of phosphorus. Probiotics are helpful bacteria that have long been employed in food production and health-related products. Bioengineered probiotics are utilized to express and transmit native or recombinant molecules to the digestive tract's mucosal surface, thereby improving feed efficiency and health. Therefore, this study aimed to use a biologically engineered probiotic supplement containing phytase enzyme-producing lactic acid bacteria as a feed additive for livestock, poultry, and fish to address this issue.

Results
The study involved multiple steps to engineer Lactobacillus lactis to produce the PHY protein for animal feed. These steps include identifying and designing primers for the phy gene, and phy gene was extracted from the pMNA1 plasmid by colony PCR and cloned in L. lactis, confirming the presence of the PHY protein through SDS-PAGE, and harvesting the product in granular form. The phy gene identified and isolated using PCR and inserted it into L. lactis, confirming the presence of the PHY protein through SDS-PAGE. The resulting product was harvested and used as animal feed for livestock, poultry, and fish.

Conclusions
The development of biologically engineered probiotic supplements containing phytase enzyme can enhance the nutritional value and sustainability of animal production. More research and development in this field can lead to more effective and sustainable animal production practices, benefiting both producers and consumers of animal products.
Forest structural complexity and ignition pattern influence simulated prescribed fire effects
Authors: Bonner Sophie R. , Hoffman Chad M. , Linn Rodman R. , Tinkham Wade T. , Atchley Adam L. , Sieg Carolyn H. , Varner J. Morgan , O’Brien Joseph J. , Hiers J. Kevin 
Published: September 2024

Abstract
Background
Forest structural characteristics, the burning environment, and the choice of ignition pattern each influence prescribed fire behaviors and resulting fire effects; however, few studies examine the influences and interactions of these factors. Understanding how interactions among these drivers can influence prescribed fire behavior and effects is crucial for executing prescribed fires that can safely and effectively meet management objectives. To analyze the interactions between the fuels complex and ignition patterns, we used FIRETEC, a three-dimensional computational fluid dynamics fire behavior model, to simulate fire behavior and effects across a range of horizontal and vertical forest structural complexities. For each forest structure, we then simulated three different prescribed fires each with a unique ignition pattern: strip-head, dot, and alternating dot.

Results
Forest structural complexity and ignition pattern affected the proportions of simulated crown scorch, consumption, and damage for prescribed fires in a dry, fire-prone ecosystem. Prescribed fires in forests with complex canopy structures resulted in increased crown consumption, scorch, and damage compared to less spatially complex forests. The choice of using a strip-head ignition pattern over either a dot or alternating-dot pattern increased the degree of crown foliage scorched and damaged, though did not affect the proportion of crown consumed. We found no evidence of an interaction between forest structural complexity and ignition pattern on canopy fuel consumption, scorch, or damage.

Conclusions
We found that forest structure and ignition pattern, two powerful drivers of fire behavior that forest managers can readily account for or even manipulate, can be leveraged to influence fire behavior and the resultant fire effects of prescribed fire. These simulation findings have critical implications for how managers can plan and perform forest thinning and prescribed burn treatments to meet risk management or ecological objectives.
Information Dependency in Mitigating Disruption Cascades
Authors: Bakshi Nitin , Mohan Shyam 
Published: September 2024

Problem definition: Shocks that trigger supply chain disruptions inflict initial losses by damaging firms’ assets. The disruption can then cascade when an affected firm fails to deliver to its buyer, thereby interrupting the buyer’s operations, and continue thus across multiple levels (tiers) in the supply chain. To protect against such disruption cascades, firms can make ex ante investments in risk mitigation. These investments depend heavily on the operational characteristics of network participants and their interconnections. Gathering operational information can be challenging. Our aim is to shed light on the forces that govern information requirements for risk mitigation. Methodology/results: We introduce a game-theoretic model to characterize the equilibrium mitigation by firms in a decentralized arborescent network facing severe disruptions. We find that when the trigger shocks are nonconcurrent events, the equilibrium mitigation by a firm displays a limited vertical dependence on the operational attributes of suppliers that are farther away in tier (network) distance. Specifically, we show that information about a firm’s extended local neighborhood—up to its tier 2 suppliers—suffices to characterize its equilibrium mitigation. Allowing for concurrent shocks to simultaneously strike multiple firms increases the information requirement at partner firms that typically lie within two tiers downstream from the firms experiencing concurrent shocks. Managerial implications: Full supply chain visibility is costly. The literature offers little guidance on how to prioritize efforts to enhance visibility into the attributes of supply chain partners. Rather than a blanket call for greater visibility, our results proffer nuanced managerial prescriptions for the extent to which risk mitigation requires such visibility. Supplemental Material: The online appendices are available at https://doi.org/10.1287/msom.2022.0408 .
The role of limb alignment on natural tibiofemoral kinematics and kinetics
Authors: Postolka Barbara , Taylor William R. , Fucentese Sandro F. , List Renate , Schütz Pascal 
Published: September 2024

AimsThis study aimed to analyze kinematics and kinetics of the tibiofemoral joint in healthy subjects with valgus, neutral, and varus limb alignment throughout multiple gait activities using dynamic videofluoroscopy.MethodsFive subjects with valgus, 12 with neutral, and ten with varus limb alignment were assessed during multiple complete cycles of level walking, downhill walking, and stair descent using a combination of dynamic videofluoroscopy, ground reaction force plates, and optical motion capture. Following 2D/3D registration, tibiofemoral kinematics and kinetics were compared between the three limb alignment groups.ResultsNo significant differences for the rotational or translational patterns between the different limb alignment groups were found for level walking, downhill walking, or stair descent. Neutral and varus aligned subjects showed a mean centre of rotation located on the medial condyle for the loaded stance phase of all three gait activities. Valgus alignment, however, resulted in a centrally located centre of rotation for level and downhill walking, but a more medial centre of rotation during stair descent. Knee adduction/abduction moments were significantly influenced by limb alignment, with an increasing knee adduction moment from valgus through neutral to varus.ConclusionLimb alignment was not reflected in the condylar kinematics, but did significantly affect the knee adduction moment. Variations in frontal plane limb alignment seem not to be a main modulator of condylar kinematics. The presented data provide insights into the influence of anatomical parameters on tibiofemoral kinematics and kinetics towards enhancing clinical decision-making and surgical restoration of natural knee joint motion and loading.Cite this article: Bone Joint Res 2024;13(9):485–496.
Development of cybersecurity framework for FinTech innovations: Bahrain as a case study
Authors: AlBenJasim Salah , Takruri Haifa , Al-Zaidi Rabab , Dargahi Tooska 
Published: September 2024

AbstractFinTech is the term used to refer to financial and technology convergence space solutions. It usually refers to new innovations that conduct or connect with financial services via the internet, smart devices, software applications, or cloud services and encompasses anything from mobile banking to cryptocurrency applications. Despite the advantages of FinTech, cybercriminals seized the opportunity to exploit vulnerabilities in FinTech systems. Phishing attacks, ransomware, and data breaches have become more prevalent, targeting individuals and FinTech institutions. Bahrain, which is not different from the rest of the world, was impacted by such cyber threats. Thus, FinTech companies have had to strengthen their cybersecurity countermeasures and protocols to combat these threats.Existing countermeasures in the literature primarily focus on general cybersecurity practices and frameworks, with limited attention given to the specific needs of the FinTech industry. Hence, there is a notable gap in the literature regarding a focused cybersecurity framework that caters to the unique requirements of FinTech innovations, especially in Bahrain. To bridge this gap, this research addresses the problem by conducting an extensive review of existing cybersecurity challenges, common practices, and cybersecurity standards and through in-depth research interviews with executives, experts, and other FinTech business stakeholders. Leveraging this knowledge, this research proposed an adaptable framework that addresses the risks and vulnerabilities faced by FinTech innovations in Bahrain.Through panel discussions and Delphi sessions, industry experts evaluated the framework’s practical feasibility, ability to address specific risks, and compatibility with the existing FinTech regulatory landscape. The results demonstrate a high acceptance of the developed framework and highlight the framework’s potential to enhance cybersecurity resilience significantly. Moreover, the experts acknowledge the proposed framework as a fundamental baseline in securing the FinTech ecosystem in Bahrain. The importance of this research lies in its potential to enhance the cybersecurity posture of the FinTech industry in Bahrain, mitigating risks and vulnerabilities associated with cyber threats in this vital sector.
High-risk fertility behaviors and associated factors among married reproductive-age women in sub-Saharan Africa: A multilevel mixed-effect analysis of nationally representative data from 35 countries
Authors: Mare Kusse Urmale , Aychiluhm Setognal Birara , Mulaw Getahun Fentaw , Sabo Kebede Gemeda , Asmare Mekuriyaw Gashaw , Wubshet Betel Zelalem , Tebeje Tsion Mulat , Seifu Beminate Lemma 
Published: September 2024

Background
Although high-risk fertility behaviors are linked with poor maternal and child health outcomes, their prevalence remains higher in resource-limited countries and varies significantly by context. Evidence on the recent estimates of these fertility risks at the sub-Saharan Africa level is limited. Therefore, this study aimed to examine the pooled prevalence of high-risk fertility behaviors and associated factors among married women in this region.

Methods
Data from DHS of 35 sub-Saharan African countries were used and a weighted sample of 243,657 married reproductive-age women were included in the analysis. A multilevel binary logistic regression models were fitted and the final model was selected based on the log-likelihood and deviance values. A p-value less than 0.05 and an adjusted odds ratio with a corresponding 95% confidence interval were used to identify the factors associated with high-risk fertility behaviors.

Results
The pooled prevalence of high-risk fertility behaviors among women in sub-Saharan Africa was 77.7% [95% CI = 77.6%-77.9], where 43.1% [95% CI: 42.9%-43.3%], and 31.4% [95% CI = 31.2%-31.6%] had a single risk and combination of two or three fertility risks, respectively. The highest level of single-risk fertility pattern was observed in Burundi (53.4%) and Chad had the highest prevalence of both at least one (89.9%) and multiple (53.6%) fertility risks. Early and polygamous marriages, low maternal and husband education, poor wealth index, unmet need for contraception, couple’s fertility discordance, rural residence, high community-level early marriage practice, and low community-level women empowerment were associated with risky fertility behaviors.

Conclusions
More than three-quarters of married women in SSA were engaged in high-risk fertility behaviors, with significant variations across the included countries. Therefore, addressing the modifiable risk factors like improving access to need-based contraceptive methods and empowering couples through education for a better understanding of their reproductive health with particular attention to rural settings are important in reducing these fertility risks. The results also suggest the need to strengthen the policies regulating the prohibition of early and polygamous marriages.
Pengaruh Sikap Terhadap Celebrity Endorser Dan Daya Tarik Celebrity Endorser Terhadap Minat Beli Hand And Body Lotion Nivea Di Kota Semarang
Authors: Sari Resly Indah , Idris Idris 
Published: September 2024

Current marketing strategies are growing and applied by various companies are marketing strategies that utilize the popularity of a celebrity. This has an effect on consumer purchase intention when buying a product as a result of effective advertising. Consumer attitudes on celebrity endorser become connecting and submission information to other consumers related to the effectiveness of celebrity endorsers. The purpose of this research is to determine the model, hypothesis, indicator, and determine the effect of attitude on celebrity endorser and attractiveness celebrity endorser to purchase intention with brand image as intervening variables on hand and body lotion Nivea consumers in Semarang City. The acquisition of data was taken from 150 respondents selected by purposive sampling method.The population chosen in this research is the user hand and body lotion nivea products domiciled in Semarang City. The consumer criterion is at least seventeen years old and has used a handy and body product at least one time usage. The data were analyzed quantitatively and structurally by applying Structural Equation Modeling (SEM) and using Analysis Moment of Structural (AMOS) version 24 as the analysis tool. The results of the analysis showed that attitude of celebrity endorser positively and significantly on brand image and purchase intention, attractiveness celebrity endorser also has positive and significant on brand image and purchase intention, and the brand image is considered to have a positive and significant on consumers purchase intention on Nivea hand and body lotion. Keywords: attitude toward the celebrity endorser, attractiveness celebrity endorser, brand image, purchase intention