bluuebunny/crossref_metadata_2025_split huggingface dataset:
Expanding the genotype–phenotype correlations in Alport syndrome: novel mutations, digenic inheritance, and genetic modifiers
Authors: Sahin Ibrahim , Kandemir Nefise , Saat Hanife 
Published: October 2023

Abstract
Background
Alport syndrome (AS) is the second most prevalent genetic cause of kidney failure, behind autosomal-dominant polycystic kidney disease, affecting at least one in 5000 individuals worldwide. AS is caused by COL4A3, COL4A4, and COL4A5 mutations. It is characterized as three distinct disorders of type IV collagen 3/4/5 based on a genetic evaluation: X-linked, autosomal, and digenic. About two-thirds of AS cases are X-linked (XLAS), 15% are autosomal recessive (ARAS), and 20% are autosomal dominant (ADAS). The spectrum of phenotypes associated with AS ranges from increasing renal disease with extrarenal abnormalities to isolated hematuria. Coinherited genetic mutations contribute significantly to clinical severity and variability.

Methods
In this study, an AS panel (COL4A3/COL4A4/COL4A5) and clinical exome sequencing (CES) were performed on 18 patients.

Results
Nineteen specific AS mutations, including 15 novel mutations, were found in these 18 cases, which included 17 Turkish families and 1 Syrian family. Digenic inheritance was observed in one patient, and eight coinherited genetic mutations were discovered.

Conclusions
This research reveals many novel AS mutations and shows robust genotype–phenotype heterogeneity in the disease. The results expand the clinical and molecular scope of AS and clarify the ADAS and digenic AS phenotypes, further enhancing our understanding of the complex nature of AS and its association with genetic modifiers. The data broaden the spectrum of AS-related gene mutations and provide new insights on genotype–phenotype correlations in AS.
The mechanism of ferroptosis and its related diseases
Authors: Feng Shijian , Tang Dan , Wang Yichang , Li Xiang , Bao Hui , Tang Chengbing , Dong Xiuju , Li Xinna , Yang Qinxue , Yan Yun , Yin Zhijie , Shang Tiantian , Zheng Kaixuan , Huang Xiaofang , Wei Zuheng , Wang Kunjie , Qi Shiqian 
Published: October 2023

AbstractFerroptosis, a regulated form of cellular death characterized by the iron-mediated accumulation of lipid peroxides, provides a novel avenue for delving into the intersection of cellular metabolism, oxidative stress, and disease pathology. We have witnessed a mounting fascination with ferroptosis, attributed to its pivotal roles across diverse physiological and pathological conditions including developmental processes, metabolic dynamics, oncogenic pathways, neurodegenerative cascades, and traumatic tissue injuries. By unraveling the intricate underpinnings of the molecular machinery, pivotal contributors, intricate signaling conduits, and regulatory networks governing ferroptosis, researchers aim to bridge the gap between the intricacies of this unique mode of cellular death and its multifaceted implications for health and disease. In light of the rapidly advancing landscape of ferroptosis research, we present a comprehensive review aiming at the extensive implications of ferroptosis in the origins and progress of human diseases. This review concludes with a careful analysis of potential treatment approaches carefully designed to either inhibit or promote ferroptosis. Additionally, we have succinctly summarized the potential therapeutic targets and compounds that hold promise in targeting ferroptosis within various diseases. This pivotal facet underscores the burgeoning possibilities for manipulating ferroptosis as a therapeutic strategy. In summary, this review enriched the insights of both investigators and practitioners, while fostering an elevated comprehension of ferroptosis and its latent translational utilities. By revealing the basic processes and investigating treatment possibilities, this review provides a crucial resource for scientists and medical practitioners, aiding in a deep understanding of ferroptosis and its effects in various disease situations.
Development of a model for a walking robot made of Desai mechanism using ANN and regression approach
Authors: Venkatagiriyappa Raghavendra Bommanahalli , Annigeri Anandkumar R. , Srikantamurthy Jogipalya Shivananjappa 
Published: October 2023

AbstractThe study focuses on computing the optimized foot profile for a walking leg mechanism using artificial neural network (ANN), genetic algorithm, and regression approaches. The technique adopted in this work is the benchmark approach and acts as a tool for complex problems. A mathematical model using regression and ANN is developed for the 8-link coplanar mechanism. Optimum link lengths are obtained to minimize the objective function (error). The output response is the foot length with a minimum foot height of 124 mm for obstacle clearance. A neural network is designed with seven neurons (one neuron/link) in the input layer. Optimum neurons in the hidden layer are determined based on the output obtained through simulation. A single neuron is used to represent the foot profile length at the output layer. The foot lengths obtained from the regression model and ANN are compared and validated with a genetic algorithm for the data sets of 100, 200, 300, 400, and 500. Simulation studies of the walking leg mechanism revealed a difference of 19%, 22.4%, and 5.23% in the foot profile by ANN and mathematical, ANN and regression model, and mathematical and regression approach respectively. This paper reveals that different approaches viz., ANN, mathematical and regression models generate dissimilar foot profiles.
Rhythmic Refrains
Authors: Hendricks Ashley 
Published: October 2023

Abstract
In the 1920s and 1930s, Duke Ellington collaborated with several directors who narrativized his compositions for short films; Ellington's collaborations A Bundle of Blues (1933) and Symphony in Black (1935) with Fred Waller, Paramount's special-effects man turned director, remain just out of step with the many other jazz shorts from the period. While synchronization was well-utilized by the time Ellington and Waller's films were released, their films are notable for the absence of synchronized tap sounds. This absence gestures to a breakdown in the illusion of synchronization delivering knowable bodies, positioning the films as disruptive not only to the jazz short genre but to earlier sound film. This article meditates on the potential arising from the films’ failure of synchronicity to engage the audience in a “fugitive” mode of listening and viewing.
Volumetric Analysis of Spheno-Orbital Meningiomas: Prognostic Correlation and a Compartmentalized Approach
Authors: Zohdy Youssef M. , Jacob Fadi , Agam Matthew , Alawieh Ali , Bray David , Barbero J. Manuel Revuelta , Argaw Samson A. , Maldonado Justin , Rodas Alejandra , Sudhakar Vivek , Porto Edoardo , Peragallo Jason H. , Olson Jeffrey J. , Pradilla Gustavo , Garzon-Muvdi Tomas 
Published: October 2023

BACKGROUND AND OBJECTIVES:
Spheno-orbital meningiomas arise from the arachnoid villi cap cells at the sphenoid ridge and have the ability to spread through soft tissue extension and cranial bone invasion. Owing to their orbital hyperostosis and intraorbital soft tissue extension, they commonly present with ophthalmologic manifestations. This study aims to investigate the correlation between tumor volume with the presenting symptoms and postoperative outcomes.

METHODS:
This retrospective study analyzed patients who underwent surgical resection of spheno-orbital meningiomas. Tumor volumes in different compartments were measured using preoperative and postoperative imaging. Linear and logistic regression analyses were used to identify correlations between tumor volumes and presenting symptoms preoperatively and postoperative outcomes.

RESULTS:
Sixty-six patients were included in this study, of whom 86.4% had proptosis, 80.3% had decreased visual acuity (VA), 30.3% had visual field defects, and 13.6% had periorbital edema. Preoperatively, proptosis linearly correlated with intraosseous tumor volume (coefficient = 0.6, P < .001), while the decrease in baseline VA correlated with the intraorbital tumor volume (coefficient = 0.3, P = .01). The odds of periorbital edema were found to increase with an increase in intraosseous tumor volume with an adjusted odds ratio of 1.4 (95% CI, 1.1-1.7, P = .003), while the odds of visual field defects were found to increase with an increase in intraorbital tumor volume with an adjusted odds ratio of 2.7 (95% CI, 1.3-5.6, P = .01). Postoperatively, the volume of intraosseous tumor resected linearly correlated with the improvement in proptosis (coefficient = 0.7, P < .001), while the volume of intraorbital tumor resected linearly correlated with improvement in VA (coefficient = 0.5, P < .001) and with a larger effect size in patients presenting with moderate-to-severe decrease in VA preoperatively (coefficient = 0.8).

CONCLUSION:
Underscoring the importance of each tumor compartment relative to the patient's symptomatology serves as a valuable guide in implementing a compartmentalized resection approach tailored to the surgical objectives.
Accelerated Fear Extinction by Regular Light-Intensity Exercise: A Possible Role of Hippocampal BDNF-TrkB Signaling
Authors: SHIMODA RYO , AMAYA YUKI , OKAMOTO MASAHIRO , SOYA SHINGO , SOYA MARIKO , KOIZUMI HIKARU , NAKAMURA KENGO , HIRAGA TAICHI , TORMA FERENC , SOYA HIDEAKI 
Published: October 2023

ABSTRACT

Purpose
Growing concern exists worldwide about stress-related mental disorders, such as posttraumatic stress disorder (PTSD), often linked to hippocampal dysfunctions. Recognizing this connection, regular light-intensity exercise (LIE)—such as yoga, walking, or slow jogging—may offer a solution. Easily accessible even to vulnerable individuals, LIE has been found to enhance hippocampus-based cognitive functions through the stimulation of neurotrophic factors like brain-derived neurotrophic factor (BDNF). A prior study that demonstrated BDNF’s role in extinguishing original fear memory further leads us to propose that a consistent LIE training might drive fear extinction learning, offering potential therapeutic benefits through BDNF signaling.

Methods
Eleven-week-old Wistar rats underwent 4 wk of training under conditions of sedentary, LIE, or moderate-intensity exercise (MOE) after contextual or auditory fear conditioning. Subsequently, fear extinction tests were performed. We then administered intraperitoneal (i.p.) ANA-12, a selective antagonist of tropomyosin receptor kinase B (TrkB), or a vehicle to explore the role of BDNF signaling in exercise-induced fear extinction among the LIE rats. Following the regular exercise training, further fear extinction tests were conducted, and hippocampal protein analysis was performed using Western blotting.

Results
Both LIE and MOE over 4 wk accelerated hippocampus-associated contextual fear extinction compared with sedentary. In addition, 4 wk of LIE with i.p. administered vehicle increased hippocampal BDNF and TrkB protein levels. In contrast, i.p. ANA-12 administration fully blocked the LIE-enhanced protein levels and its effect on contextual fear extinction.

Conclusions
Our findings reveal that LIE regimen promotes fear extinction learning, at least partially tied to hippocampal BDNF-TrkB signaling. This suggests that even regular light exercise could alleviate the excessive fear response in anxiety disorders and PTSD, providing hope for those affected.
Duch wynalazczy, nauka, fikcja – Jan Szczepanik i Franciszek Pik Mirandola jako prekursorzy science fiction
Authors: Gruchała Wojciech 
Published: October 2023

Duch wynalazczy, nauka, fikcja – Jan Szczepanik i Franciszek Pik Mirandola jako prekursorzy science fiction
Artykuł ukazuje epizod z dziejów literatury science-fiction w Polsce. Przyjaciele z lat szkolnych – Jan Szczepanik i Franciszek Pik Mirandola – wspólnie rozwijali pasję wynalazczą. Pierwszy z nich osiągnął na tym polu światowy sukces, jako twórca technologii tkackich opartych o techniki fotograficzne, a także dzięki wykonaniu kamizelki kuloodpornej dla władcy Hiszpanii, natomiast Franciszek Pik pomysły wynalazków gromadził w szufladzie, starając się zaistnieć jako pisarz. Obaj nosili cechy osobowości podwójnych: Szczepanik wydawał się współczesnym wcieleniem twórczego geniusza niezrozumianego przez mieszczańskie społeczeństwo, drugi kilkakrotnie wracał do zawodu aptekarskiego, marząc o sławie artysty. Kompetencje techniczne Franciszka Pika pozwoliły mu w sposób nowatorski eksperymentować z językiem nauki i snuć z jego pomocą refleksję egzystencjalną i metafizyczną. Opowiadania pisane w ten sposób: Cel, Lux perpetua, Pamiętnik płomienia swą oryginalnością do dziś zadziwiają i stanowią nowatorski wkład Pika w rozwój konwencji prozy fantastyczno-naukowej w Polsce. Niestety, nowatorstwo to nie zyskało za życia artysty poklasku publiczności i podobnie jak genialne wynalazki Szczepanika musiało czekać na ponowne odkrycie już po śmierci autora.
Retargeted vs. Generic Product Recommendations: When is it Valuable to Present Retargeted Recommendations?
Authors: Wan Xiang (Shawn) , Kumar Anuj , Li Xitong 
Published: October 2023

Practitioner’s Abstract Online platforms/retailers widely use collaborative filtering (CF)-based generic product recommendations to improve sales. These systems recommend products to a consumer based on the product co-views and co-purchases by other consumers on the website but do not leverage the consumer’s browsing data. Based on a field study on a U.S. fashion apparel and home goods retailer’s website, we show that informing generic CF recommendations to individual consumers’ browsing history can generate substantial additional sales. Specifically, we show that it is optimal to offer generic CF recommendations to a consumer if the consumer has not carted a product and recommend products he or she has seen in the previous sessions (retargeted recommendations) if he or she has carted a product. Our simulation results show that such recommendations could result in a 3% increase in total sales compared with conventional generic CF recommendations. Online platforms/retailers with detailed consumer browsing data can implement such recommendations to achieve higher sales.
OER by Any Other Name: Results From A Faculty Listening Tour At A Mid-Sized Research University
Authors: Schuler Andrea , Gamble Alyn 
Published: October 2023

The importance of OER in higher education is well-documented, but additional factors are necessary to explore in order to understand the perception, use, and development of these resources. These include scans of academic environments beyond community colleges or large public universities, and the utilization of novel techniques such as listening tours. In this study, a faculty listening tour was conducted at a private, mid-sized research university. Fourteen faculty members from a variety of disciplines participated in the study, with STEM disciplines being slightly more represented. Semi-structured interviews revealed findings related to faculty usage of textbooks, understanding of student financial needs, perceptions of OER, as well as faculty communication preferences. Faculty members were found to be thoughtful in their selection of course materials, albeit limited by time to include or create new resources, and considerate of cost when choosing textbooks. Faculty members were also found to be unable to define inclusive access models and had difficulty understanding the term OER, leading to a change in librarian vocabulary when referring to these resources. This listening tour led to new approaches to outreach and communications regarding OER among faculty, as well as the development of a staff listening tour, to better support campus needs and facilitate the use of more low-and-no-cost materials.
Triple combination of HAIC-FO plus tyrosine kinase inhibitors and immune checkpoint inhibitors for advanced hepatocellular carcinoma: A systematic review and meta-analysis
Authors: Tan Zhongbao , Zhang Jian , Xu Lan , Wang Huanjing , Mao Xuequn , Zou Rong , Wang Qingqing , Han Zhuang , Di Zhenhai , Wu Daguang 
Published: October 2023

BackgroundThe triple combination of hepatic arterial infusion chemotherapy (HAIC) with fluorouracil, leucovorin, and oxaliplatin (FOLFOX) plus tyrosine kinase inhibitor (TKI) and immune checkpoint inhibitors (ICIs) is expected to have a synergistic anticancer effect in HCC. We conducted this meta-analysis to evaluate the efficacy and safety of the triple combination treatment in advanced HCC patients.MethodsPubMed, Embase, Cochrane Library, Web of Science databases were systematically searched for relevant studies from the inception of each database to May 10, 2023. All articles focusing the triple combination treatment of HAIC-FO plus TKI and ICIs for advanced HCC were eligible. The meta-analysis was conducted following the PRISMA guidelines. The risk of bias was assessed using the Joanna Briggs Institute (JBI) for case series and Newcastle-Ottawa Scale (NOS) for cohort studies. The primary outcomes were overall survival (OS), progression-free survival (PFS), objective response rate (ORR) and disease control rate (DCR). The secondary results were adverse events. Further meta-analysis of control studies demonstrated the superiority of the triple combination modality to TKI plus ICIs, and TKI alone.ResultsNine articles (four cohort studies and five one-arm studies) involving 777 advanced HCC patients were included in this meta-analysis. In terms of survival analysis, the pooled median PFS was 11 months (95% CI: 10.1–12.0 months) with low heterogeneity (I2= 0%,p= 0.97). With regard to tumor response, the pooled ORR and DCR was 61.6% (I2=0%,p= 0.71) and 87.9% (I2= 13%,p= 0.33) with low heterogeneity, respectively. As compared with TKIs plus ICIs, and TKIs alone, the triple combination thrapy was associated with improved median OS (HR=0.51, 95%CI 0.41-0.62) with low heterogeneity across studies (I2= 0%,p= 0.47), median PFS (HR=0.51, 95%CI 0.41-0.64) with low heterogeneity across studies (I2= 0%,p= 0.41), ORR (RR = 0.56, 95% CI: 0.42–0.74) with high heterogeneity across studies (I2= 69%,p= 0.02), and DCR (RR = 0.38, 95%CI 0.27–0.54) with low heterogeneity across studies (I2= 14%,p= 0.32). The most common 3/4 AEs were elevated ALT and AST, thrombocytopenia, hypertension, nausea and vomiting in this meta-analysis.ConclusionsThe triple combination therapy of HAIC-FO plus TKI and ICIs showed promising efficacy and safety in patients with advanced HCC.RegistrationThe protocol was registered with PROSPERO (ID:CRD42023424281).
ABO blood groups are not associated to gestational diabetes mellitus in Mexican women
Authors: Cordero-Franco Hid Felizardo , Salinas-Martínez Ana María , Esparza-Contró María José , González-Rueda Sofía Denisse , Guzmán-de la Garza Francisco Javier 
Published: October 2023

Objectives
Some studies show an increased risk of gestational diabetes mellitus for ABO blood groups. Others find a lower risk or do not identify any association. Inconsistencies may be due to the heterogeneity in the control for confounding variables. We determined the association between ABO blood groups and gestational diabetes mellitus in Mexican women, controlling for gravidity and age, pre-pregnancy body mass index, fasting glucose at the first trimester, and first-degree relative with diabetes.

Methods
This case-control study was conducted from February 2019 to December 2021 in Monterrey, Mexico, with 185 cases (women with gestational diabetes mellitus) and 530 controls. ABO blood groups and other variables were obtained from the clinical records. A multivariate binary logistic regression was used for estimating association. Two models were run, one for primigravidae and another for non-primigravidae. A p-value < 0.05 was significant.

Results
The ABO blood groups were O (69.4%), A (22.2%), B (6.7%), and AB (1.7%), with no differences between cases and controls (p = 0.884). No association was found between ABO blood groups and gestational diabetes mellitus, in primigravidae or non-primigravidae.

Conclusion
ABO blood groups were not associated with an increased risk of gestational diabetes mellitus in Mexican women, independent of gravidity and well-known risk factors.
Umowne formy realizacji zadań przez samorząd terytorialny – zagadnienia teoretyczno-prawne
Authors: Popowska Bożena 
Published: October 2023

The discussion in the article takes into account two aspects: the specific nature of contracts as legal forms of action of local government bodies, and the special rela- tionship of two branches of law, i.e. administrative law and public economic law. Both directions of this discussion entail a civil law aspect with a extended theory on contracts and the freedom of contract.
The study assumes that the element linking the above threads is the principle of the social market economy as one of the foundations of the system of the Repub- lic of Poland, which does not exclude state economic activity, subject to Article 1, Article 2 and Article 5 of the Constitution of the Republic of Poland. This field includes the regulations of the Law on Municipal Management, whose addressees are local government bodies. For the implementation of the tasks assigned to local government in the field of economy, local government bodies enter into contracts; this is one of the legal forms that allows them to take into account the complexity of administration-economy relations (relationships), and therefore third parties: entrepreneurs, contractors, competitors and consumers.
An area of study related to the issues stated in the title and which is significant for both theoretical and practical reasons is the regulation of Article 3 of the Law on Municipal Management. This provision provides a specific legal basis for concluding contracts “for the purpose of entrusting the performance of tasks” in the field of municipal management. The article points to the issue of the legal determination of contractual entrustment of such tasks, taking into account the constitutional principle of binding the administration to the law (Article 7 of the Constitution of the Republic of Poland) and the civil law principle of freedom of contract (Article 353¹ of the Civil Code). The scope of freedom enjoyed by local government units in the use of the form of contract in the doctrine is also considered as an element of “organizational independence” of these units, and whose theoretical expression is the constitutional principle of subsidiarity. The article emphasizes the lack of a general and common statutory basis in the Polish legal order that would regulate the transfer of public tasks, as well as the lack of a statutory regulation providing a template(s) for the contract, which is most often referred to in the doctrine as a public-legal contract.
Clinical role of CYP1B1 gene polymorphism in prediction of postoperative chemotherapy efficacy in NSCLC based on individualized health model
Authors: Liu Bo , Zhang Shaofeng , Liu Chunyan , Han Xia 
Published: October 2023

Abstract
Non-small cell lung cancer (NSCLC) is one of the most common cancers worldwide, and chemotherapy is one of its main treatment methods. However, there are significant differences in patients’ reactions to chemotherapy, leading to unsatisfactory treatment outcomes. Therefore, identifying relevant factors that affect the efficacy of chemotherapy can help doctors better develop personalized treatment plans, improve the treatment effectiveness, and quality of life of patients. This article aims to understand the specific clinical role of CYP1B1 gene in NSCLC. Therefore, based on the individualized health model of CYP1B1 gene polymorphism, this article analyzes the prediction of postoperative chemotherapy efficacy for NSCLC. Through a study on the control variables of postoperative recovery of stage III NSCLC in a hospital, according to the findings of this study, 14 of the 32 patients in the EGFR mutation-positive group relapsed. In the EGFR-negative group, 13 of the 36 patients relapsed. It can be considered that CYP1B1 gene polymorphism has a good curative effect in postoperative chemotherapy of NSCLC, and it can effectively control the recurrence rate of cancer.