bluuebunny/crossref_metadata_2025_split huggingface dataset:
Elucidating the impact of Y chromosome microdeletions and altered gene expression on male fertility in assisted reproduction
Authors: Pazoki Nasrin , Salehi Mitra , Angaji Seyed Abdolhamid , Abdollahpour-Alitappeh Meghdad 
Published: May 2024

Abstract

Background
Genetic abnormalities like Y chromosome microdeletions are implicated in male infertility. This study investigated the association of azoospermia factor (AZF) region microdeletions with unsuccessful assisted reproductive techniques (ART), including in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI).

Methods
This cross-sectional analysis study examined 80 Iranian oligospermic men (mean age 34 years) with prior failed ICSI and IVF cycles (IR.IAU.TNB.REC.1401.041). Semen analysis evaluated quantity/quality parameters based on World Health Organization guidelines. Participants were stratified by sperm DNA fragmentation (SDF) levels into: control (SDF &lt; 15%, n = 20), mild elevation (15% ≤ SDF ≤ 30%, n = 60), and high (SDF &gt; 30%, n = 20). Multiplex PCR mapped AZF microdeletions in the high SDF group. The AZF-associated genes were selected by RNA Seq analysis, and the candidate genes were checked for expression level by real-time PCR.

Results
High SDF individuals exhibited poorer semen metrics, including 69% lower sperm concentration (P = 0.04) than those without SDF. Of this subset, 45% (9/20 men) harboured predominately AZF microdeletions. Men with AZF microdeletions showed higher SDF (32% vs 21%, P = 0.02) and altered AZF-associated genes expression. As USP9Y 3-fold, UTY 1.3-fold, and BPY2 1-fold revealed up-regulation, while IQCF1 8-fold, CDY 6.5-fold, DAZ 6-fold, and DDX3Y 1-fold underwent down-regulation. The PAWP gene was also down-regulated (5.7-fold, P = 0.029) in the IVF/ICSI failure group.

Conclusion
AZF microdeletions significantly impact male infertility and ART outcomes. High SDF individuals exhibited poorer semen metrics, with 45% AZF microdeletions. These microdeletions altered AZF-associated genes expression, affecting fertility mediator PAWP independently. Dual AZF and SDF screening enables personalized management in severe male infertility, potentially explaining IVF/ICSI failures.
Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling
Authors: Shim Abraham , Luan Xiaohan , Zhou Wen , Crow Yanick J , Maciejowski John 
Published: May 2024

Abstract
The cGAS-STING pathway detects cytosolic DNA and activates a signaling cascade that results in a type I interferon (IFN) response. The endoplasmic reticulum (ER)-associated exonuclease TREX1 suppresses cGAS-STING by eliminating DNA from the cytosol. Mutations that compromise TREX1 function are linked to autoinflammatory disorders, including systemic lupus erythematosus (SLE) and Aicardi-Goutières syndrome (AGS). Despite key roles in regulating cGAS-STING and suppressing excessive inflammation, the impact of many disease-associated TREX1 mutations—particularly those outside of the core catalytic domains—remains poorly understood. Here, we characterize a recessive AGS-linked TREX1 P61Q mutation occurring within the poorly characterized polyproline helix (PPII) motif. In keeping with its position outside of the catalytic core or ER targeting motifs, neither the P61Q mutation, nor aggregate proline-to-alanine PPII mutation, disrupts TREX1 exonuclease activity, subcellular localization, or cGAS-STING regulation in overexpression systems. Introducing targeted mutations into the endogenous TREX1 locus revealed that PPII mutations destabilize the protein, resulting in impaired exonuclease activity and unrestrained cGAS-STING activation. Overall, these results demonstrate that TREX1 PPII mutations, including P61Q, impair proper immune regulation and lead to autoimmune disease through TREX1 destabilization.
Characterizing the Etiology of Recurrent Tuberculosis Using Whole Genome Sequencing: Alaska, 2008–2020
Authors: Springer Yuri P , Tompkins Megan L , Newell Katherine , Jones Martin , Burns Scott , Chandler Bruce , Cowan Lauren S , Kammerer J Steve , Posey James E , Raz Kala M , Rothoff Michelle , Silk Benjamin J , Vergnetti Yvette L , McLaughlin Joseph B , Talarico Sarah 
Published: May 2024

Abstract

Background
Understanding the etiology of recurrent tuberculosis (rTB) is important for effective tuberculosis control. Prior to the advent of whole genome sequencing (WGS), attributing rTB to relapse or reinfection using genetic information was complicated by the limited resolution of conventional genotyping methods.

Methods
We applied a systematic method of evaluating whole genome single-nucleotide polymorphism (wgSNP) distances and results of phylogenetic analyses to characterize the etiology of rTB in American Indian and Alaska Native (AIAN) persons in Alaska during 2008 to 2020. We contextualized our findings through descriptive analyses of surveillance data and results of a literature search for investigations that characterized rTB etiology using WGS.

Results
The percentage of tuberculosis cases in AIAN persons in Alaska classified as recurrent episodes (11.8%) was 3 times the national percentage (3.9%). Of 38 recurrent episodes included in genetic analyses, we attributed 25 (65.8%) to reinfection based on wgSNP distances and phylogenetic analyses; this proportion was the highest among 16 published point estimates identified through the literature search. By comparison, we attributed 11 (28.9%) and 6 (15.8%) recurrent episodes to reinfection based on wgSNP distances alone and on conventional genotyping methods, respectively.

Conclusions
WGS and attribution criteria involving genetic distances and patterns of relatedness can provide an effective means of elucidating rTB etiology. Our findings indicate that rTB occurs at high proportions among AIAN persons in Alaska and is frequently attributable to reinfection, reinforcing the importance of active surveillance and control measures to limit the spread of tuberculosis disease in Alaskan AIAN communities.
The Meioflume: A New System for Observing the Interstitial Behavior of Meiofauna
Authors: Ballentine W M , Dorgan K M 
Published: May 2024

Synopsis
Meiofauna (benthic invertebrates &lt; 1 mm in size) facilitate sediment biogeochemical cycling, alter sediment microbial community structure, and serve as an important trophic link between benthic micro- and macrofauna, yet the behaviors that mechanistically link individuals to their ecological effects are largely unknown. Meiofauna are small and sediments are opaque, making observing the in situ activities of these animals challenging. We developed the Meioflume, a small, acrylic flow tunnel filled with grains of cryolite, a transparent sand analog, to simulate the in situ conditions experienced by meiofauna in an observable lab environment. The Meioflume has a working area (28.57 mm × 10.16 mm × 1 mm) that is small enough to quickly locate fauna and clearly observe behavior but large enough that animals are not tightly confined. When connected to a syringe press, the Meioflume can produce low velocity flows consistently and evenly across the width of its working area while retaining the contents. To demonstrate its functionality in observing the behavior of meiofauna, we placed individual meiofaunal animals (a protodrilid annelid, a harpacticoid copepod, and a platyhelminth flatworm) in Meioflumes and filmed their behavioral response to a sudden initiation of porewater flow. All animals were clearly visible within the flume and could be observed responding to the onset of flow. The design and construction of the Meioflume make it an accessible, affordable tool for researchers. This experimental system could be modified to address many questions in meiofaunal ecology, such as studying behavior in response to chemical cues, allowing us to observe meiofaunal behaviors to better understand their ecological effects.
Surfperches versus Damselfishes: Trophic Evolution in Closely Related Pharyngognath Fishes with Highly Divergent Reproductive Strategies
Authors: Cooper W J , Conith M R , Conith A J 
Published: May 2024

Synopsis
Surfperches and damselfishes are very closely related ovalentarians with large reproductive differences. Damselfishes are typical of most Ovalentaria in that they lay demersal eggs that hatch into small, free-feeding larvae. Surfperches are unusual among ovalentarians and most acanthomorphs in having prolonged internal development. They are born at an advanced stage, some as adults, and bypass the need to actively feed throughout an extended period of ontogeny. Damselfishes and surfperches possess the same modifications of the fifth branchial arch that allow them to perform advanced food processing within the pharynx. This condition (pharyngognathy) has large effects on the evolution of feeding mechanics and trophic ecology. Although the evolution of pharyngognaths has received considerable attention, the effects of different reproductive strategies on their diversification have not been examined. We compared head shape evolution in surfperches and damselfishes using geometric morphometrics, principal component analyses, and multiple phylogenetic-comparative techniques. We found that they have similar mean head shapes, that their primary axes of shape variation are comparable and distinguish benthic-feeding and pelagic-feeding forms in each case, and that, despite large differences in crown divergence times, their head shape disparities are not significantly different. Several lines of evidence suggest that evolution has been more constrained in damselfishes: Head shape is evolving faster in surfperches, more anatomical traits have undergone correlated evolution in damselfishes, there is significant phylogenetic signal in damselfish evolution (but not surfperches), and damselfishes exhibit significant allometry in head shape that is not present in surfperches.
Antifungal mechanisms investigation of lactic acid bacteria against Aspergillus flavus: through combining microbial metabolomics and co-culture system
Authors: Yun Jeonghyun , Kim Tae Wan , Cho Chang-Won , Lee Jang-Eun 
Published: May 2024

Abstract

Aims
To develop antifungal lactic acid bacteria (LAB) and investigate their antifungal mechanisms against Aspergillus flavus in aflatoxin (AF) production.

Methods and results
We isolated 179 LABs from cereal-based fermentation starters and investigated their antifungal mechanism against A. flavus through liquid chromatography-mass spectrometry and co-culture analysis techniques. Of the 179 isolates, antifungal activity was identified in Pediococcus pentosaceus, Lactobacillus crustorum, and Weissella paramesenteroides. These LABs reduced AF concentration by (i) inhibiting mycelial growth, (ii) binding AF to the cell wall, and (iii) producing antifungal compounds. Species-specific activities were also observed, with P. pentosaceus inhibiting AF production and W. paramesenteroides showing AF B1 binding activity. In addition, crucial extracellular metabolites for selecting antifungal LAB were involved in the 2′,3′-cAMP-adenosine and nucleoside pathways.

Conclusions
This study demonstrates that P. pentosaceus, L. crustorum, and W. paramesenteroides are key LAB strains with distinct antifungal mechanisms against A. flavus, suggesting their potential as biological agents to reduce AF in food materials.
Pneumonia diagnosis performance in the emergency department: a mixed-methods study about clinicians’ experiences and exploration of individual differences and response to diagnostic performance feedback
Authors: Butler Jorie M , Taft Teresa , Taber Peter , Rutter Elizabeth , Fix Megan , Baker Alden , Weir Charlene , Nevers McKenna , Classen David , Cosby Karen , Jones Makoto , Chapman Alec , Jones Barbara E 
Published: May 2024

Abstract

Objectives
We sought to (1) characterize the process of diagnosing pneumonia in an emergency department (ED) and (2) examine clinician reactions to a clinician-facing diagnostic discordance feedback tool.

Materials and Methods
We designed a diagnostic feedback tool, using electronic health record data from ED clinicians’ patients to establish concordance or discordance between ED diagnosis, radiology reports, and hospital discharge diagnosis for pneumonia. We conducted semistructured interviews with 11 ED clinicians about pneumonia diagnosis and reactions to the feedback tool. We administered surveys measuring individual differences in mindset beliefs, comfort with feedback, and feedback tool usability. We qualitatively analyzed interview transcripts and descriptively analyzed survey data.

Results
Thematic results revealed: (1) the diagnostic process for pneumonia in the ED is characterized by diagnostic uncertainty and may be secondary to goals to treat and dispose the patient; (2) clinician diagnostic self-evaluation is a fragmented, inconsistent process of case review and follow-up that a feedback tool could fill; (3) the feedback tool was described favorably, with task and normative feedback harnessing clinician values of high-quality patient care and personal excellence; and (4) strong reactions to diagnostic feedback varied from implicit trust to profound skepticism about the validity of the concordance metric. Survey results suggested a relationship between clinicians’ individual differences in learning and failure beliefs, feedback experience, and usability ratings.

Discussion and Conclusion
Clinicians value feedback on pneumonia diagnoses. Our results highlight the importance of feedback about diagnostic performance and suggest directions for considering individual differences in feedback tool design and implementation.
Role of metaheuristic algorithms in healthcare: a comprehensive investigation across clinical diagnosis, medical imaging, operations management, and public health
Authors: Lameesa Aiman , Hoque Mahfara , Alam Md Sakib Bin , Ahmed Shams Forruque , Gandomi Amir H 
Published: May 2024

Abstract
Metaheuristic algorithms have emerged in recent years as effective computational tools for addressing complex optimization problems in many areas, including healthcare. These algorithms can efficiently search through large solution spaces and locate optimal or near-optimal responses to complex issues. Although metaheuristic algorithms are crucial, previous review studies have not thoroughly investigated their applications in key healthcare areas such as clinical diagnosis and monitoring, medical imaging and processing, healthcare operations and management, as well as public health and emergency response. Numerous studies also failed to highlight the common challenges faced by metaheuristics in these areas. This review thus offers a comprehensive understanding of metaheuristic algorithms in these domains, along with their challenges and future development. It focuses on specific challenges associated with data quality and quantity, privacy and security, the complexity of high-dimensional spaces, and interpretability. We also investigate the capacity of metaheuristics to tackle and mitigate these challenges efficiently. Metaheuristic algorithms have significantly contributed to clinical decision-making by optimizing treatment plans and resource allocation and improving patient outcomes, as demonstrated in the literature. Nevertheless, the improper utilization of metaheuristic algorithms may give rise to various complications within medicine and healthcare despite their numerous benefits. Primary concerns comprise the complexity of the algorithms employed, the challenge in understanding the outcomes, and ethical considerations concerning data confidentiality and the well-being of patients. Advanced metaheuristic algorithms can optimize the scheduling of maintenance for medical equipment, minimizing operational downtime and ensuring continuous access to critical resources.
Hunger games search algorithm based on stochastic individual information for engineering design optimization problems
Authors: Wang Zhen , Zhao Dong , Heidari Ali Asghar , Chen Huiling 
Published: May 2024

Abstract
The hunger games search algorithm (HGS) is a newly proposed metaheuristic algorithm that emulates hunger-driven foraging behaviors in a population. It combines fitness values to determine individual weights and updates them based on fitness value size, resulting in high adaptability and effective optimization. However, HGS faces issues like low convergence accuracy and susceptibility to local optima in complex optimization problems. To address these problems, an improved version called BDFXHGS is introduced. BDFXHGS incorporates a collaborative feeding strategy based on HGS’s design advantages. Individuals approach others based on hunger degree, facilitating information exchange and resolving convergence and accuracy issues. BDFXHGS combines a disperse foraging strategy and a directional crossover strategy to enhance exploration and convergence speed. The paper conducts qualitative analysis and ablation experiments to examine the effectiveness of the strategies. Comparative experiments are performed using IEEE CEC 2017 benchmark functions to compare BDFXHGS with competitive algorithms, including previous champion algorithms in different dimensions. Additionally, BDFXHGS is evaluated on 25 constrained optimization problems from the IEEE CEC 2020 competition and five real engineering optimization problems. Experimental results show that BDFXHGS performs well on benchmarks and outperforms other algorithms in real-world applications.
Advancing feature ranking with hybrid feature ranking weighted majority model: a weighted majority voting strategy enhanced by the Harris hawks optimizer
Authors: Aljohani Mansourah , AbdulAzeem Yousry , Balaha Hossam Magdy , Badawy Mahmoud , Elhosseini Mostafa A 
Published: May 2024

Abstract
Feature selection (FS) is vital in improving the performance of machine learning (ML) algorithms. Despite its importance, identifying the most important features remains challenging, highlighting the need for advanced optimization techniques. In this study, we propose a novel hybrid feature ranking technique called the Hybrid Feature Ranking Weighted Majority Model (HFRWM2). HFRWM2 combines ML models with the Harris Hawks Optimizer (HHO) metaheuristic. HHO is known for its versatility in addressing various optimization challenges, thanks to its ability to handle continuous, discrete, and combinatorial optimization problems. It achieves a balance between exploration and exploitation by mimicking the cooperative hunting behavior of Harris’s hawks, thus thoroughly exploring the search space and converging toward optimal solutions. Our approach operates in two phases. First, an odd number of ML models, in conjunction with HHO, generate feature encodings along with performance metrics. These encodings are then weighted based on their metrics and vertically aggregated. This process produces feature rankings, facilitating the extraction of the top-K features. The motivation behind our research is 2-fold: to enhance the precision of ML algorithms through optimized FS and to improve the overall efficiency of predictive models. To evaluate the effectiveness of HFRWM2, we conducted rigorous tests on two datasets: “Australian” and “Fertility.” Our findings demonstrate the effectiveness of HFRWM2 in navigating the search space and identifying optimal solutions. We compared HFRWM2 with 12 other feature ranking techniques and found it to outperform them. This superiority was particularly evident in the graphical comparison of the “Australian” dataset, where HFRWM2 showed significant advancements in feature ranking.
Toxic positivity intentions: an image management approach to upward social comparison and false self-presentation
Authors: Salopek Abby H , Eastin Matthew S 
Published: May 2024

Abstract
Media users are often overwhelmed with excessive amounts of positivity on social media. While a healthy positive outlook acknowledges both the positive and negative aspects of life, a growing term in popular media referring to toxic positivity suggests users leverage positivity and avoid negativity for personal gain. Employing a two-study, multi-method design, Study 1 is framed within the impression management literature to conceptually and operationally define perceived toxic positivity intentions (TPI) through qualitative and quantitative measures. Study 2 is framed within the bandwagon and descriptive norm literature to investigate the role of perceived TPI in upward social comparisons and digital self-presentation behaviors. Results of Study 1 indicate a five-factor solution of perceived TPI on social media. Results of Study 2 suggest the relationship between (most) dimensions of perceived TPI and false social media self-presentations is significantly mediated by upward social comparison.
Elranatamab in Japanese patients with relapsed/refractory multiple myeloma: results from MagnetisMM-2 and MagnetisMM-3
Authors: Iida Shinsuke , Ito Satoshi , Yokoyama Hisayuki , Ishida Tadao , Nagai Yuya , Handa Hiroshi , Ito Shigeki , Kamei Yoichi , Nakamura Masatoshi , Suzuki Kenshi 
Published: May 2024

Abstract

Background
Despite advances, most patients with multiple myeloma (MM) experience relapse and repeat multiple treatment lines, highlighting an unmet need for patients with relapsed or refractory MM (RRMM). Bispecific antibodies are a new option, but their efficacy and safety in Japanese patients are unknown.

Methods
This was an analysis of Japanese patients receiving elranatamab monotherapy in MagnetisMM-2 (NCT04798586) and MagnetisMM-3 (NCT04649359). Both studies evaluated a priming dose regimen of elranatamab followed by weekly subcutaneous doses, in patients with disease progression while receiving or who were intolerant to ≥3 prior therapies (≥1 proteasome inhibitor, ≥1 immunomodulatory drug and ≥1 anti-CD38 monoclonal antibody). The primary endpoints were dose limiting toxicities (DLTs) in MagnetisMM-2 and confirmed objective response rate (ORR) in MagnetisMM-3. In both, key secondary endpoints included safety, tolerability, duration of response, time to response, progression-free survival and overall survival.

Results
In MagnetisMM-2 (N = 4) and MagnetisMM-3 (n = 12), median ages were 68.5 and 66.5 years, respectively. No DLTs were observed in MagnetisMM-2. ORRs were 50.0% (95% CI, 6.8–93.2) and 58.3% (95% CI, 27.7–84.8) in MagnetisMM-2 and MagnetisMM-3, respectively. All patients experienced treatment-emergent adverse events in MagnetisMM-2 (grade 3/4: 75.0%) and MagnetisMM-3 (grade 3/4: 100%); cytokine release syndrome occurred in 100% (grade 3/4: 25.0%) and 58.3% (no grade 3/4) of patients, respectively. Neither study reported immune effector cell–associated neurotoxicity syndrome.

Conclusions
No new safety signals were observed, and ORRs were similar to that of the overall MagnetisMM-3 trial population, supporting further studies of elranatamab in Japanese patients with RRMM.
ClinicalTrials.gov identifier: NCT04798586 (MagnetisMM-2), NCT04649359 (MagnetisMM-3).