bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients
Authors: Morgat Charles , Fressart Véronique , Porretta Alessandra Pia , Neyroud Nathalie , Messali Anne , Temmar Yassine , Algalarrondo Vincent , Surget Elodie , Bloch Adrien , Leenhardt Antoine , Denjoy Isabelle , Extramiana Fabrice 
Published: June 2024

Abstract

Aims
KCNQ1 mutations cause QTc prolongation increasing life-threatening arrhythmias risks. Heterozygous mutations [type 1 long QT syndrome (LQT1)] are common. Homozygous KCNQ1 mutations cause type 1 Jervell and Lange–Nielsen syndrome (JLNS) with deafness and higher sudden cardiac death risk. KCNQ1 variants causing JLNS or LQT1 might have distinct phenotypic expressions in heterozygous patients. The aim of this study is to evaluate QTc duration and incidence of long QT syndrome–related cardiac events according to genetic presentation.

Methods and results
We enrolled LQT1 or JLNS patients with class IV/V KCNQ1 variants from our inherited arrhythmia clinic (September 1993 to January 2023). Medical history, ECG, and follow-up were collected. Additionally, we conducted a thorough literature review for JLNS variants. Survival curves were compared between groups, and multivariate Cox regression models identified genetic and clinical risk factors. Among the 789 KCNQ1 variant carriers, 3 groups were identified: 30 JLNS, 161 heterozygous carriers of JLNS variants (HTZ-JLNS), and 550 LQT1 heterozygous carriers of non-JLNS variants (HTZ-Non-JLNS). At diagnosis, mean age was 3.4 ± 4.7 years for JLNS, 26.7 ± 21 years for HTZ-JLNS, and 26 ± 21 years for HTZ-non-JLNS; 55.3% were female; and the mean QTc was 551 ± 54 ms for JLNS, 441 ± 32 ms for HTZ-JLNS, and 467 ± 36 ms for HTZ-Non-JLNS. Patients with heterozygous JLNS mutations (HTZ-JLNS) represented 22% of heterozygous KCNQ1 variant carriers and had a lower risk of cardiac events than heterozygous non-JLNS variant carriers (HTZ-Non-JLNS) [hazard ratio (HR) = 0.34 (0.22–0.54); P &lt; 0.01]. After multivariate analysis, four genetic parameters were independently associated with events: haploinsufficiency [HR = 0.60 (0.37–0.97); P = 0.04], pore localization [HR = 1.61 (1.14–1.2.26); P &lt; 0.01], C-terminal localization [HR = 0.67 (0.46–0.98); P = 0.04], and group [HR = 0.43 (0.27–0.69); P &lt; 0.01].

Conclusion
Heterozygous carriers of JLNS variants have a lower risk of cardiac arrhythmic events than other LQT1 patients.
Near-field detection and peak frequency metric for substrate and activation mapping of ventricular tachycardias in two- and three-dimensional circuits
Authors: Tonko Johanna B , Lozano Cristina , Moreno Javier , Chow Anthony , Dhinoja Mehul , Lambiase Pier D 
Published: June 2024

Abstract

Aims
Successful ventricular arrhythmia (VA) ablation requires identification of functionally critical sites during contact mapping. Estimation of the peak frequency (PF) component of the electrogram (EGM) may improve correct near-field (NF) annotation to identify circuit segments on the mapped surface. In turn, assessment of NF and far-field (FF) EGMs may delineate the three-dimensional path of a ventricular tachycardia (VT) circuit.

Methods and results
A proprietary NF detection algorithm was applied retrospectively to scar-related re-entry VT maps and compared with manually reviewed maps employing first deflection (FDcorr) for VT activation maps and last deflection (LD) for substrate maps. Ventricular tachycardia isthmus location and characteristics mapped with FDcorr vs. NF were compared. Omnipolar low-voltage areas, late activating areas, and deceleration zones (DZ) in LD vs. NF substrate maps were compared. On substrate maps, PF estimation was compared between isthmus and bystander sites. Activation mapping with entrainment and/or VT termination with radiofrequency (RF) ablation confirmed critical sites. Eighteen patients with high-density VT activation and substrate maps (55.6% ischaemic) were included. Near-field detection correctly located critical parts of the circuit in 77.7% of the cases compared with manually reviewed VT maps as reference. In substrate maps, NF detection identified deceleration zones in 88.8% of cases, which overlapped with FDcorr VT isthmus in 72.2% compared with 83.3% overlap of DZ assessed by LD. Applied to substrate maps, PF as a stand-alone feature did not differentiate VT isthmus sites from low-voltage bystander sites. Omnipolar voltage was significantly higher at isthmus sites with longer EGM durations compared with low-voltage bystander sites.

Conclusion
The NF algorithm may enable rapid high-density activation mapping of VT circuits in the NF of the mapped surface. Integrated assessment and combined analysis of NF and FF EGM-components could support characterization of three-dimensional VT circuits with intramural segments. For scar-related substrate mapping, PF as a stand-alone EGM feature did not enable the differentiation of functionally critical sites of the dominant VT from low-voltage bystander sites in this cohort.
Back to the future: the persistent problems of hybrid war
Authors: Person Robert , Kulalic Isak , Mayle John 
Published: June 2024

Abstract
What has happened to the spectre of Russian hybrid warfare that once haunted strategists, policy-makers and scholars? Many of the characteristics of Russia's 2014 invasion of Crimea have been absent in Moscow's current war, prompting some to wonder whether Russia has moved beyond ‘hybrid warfare’ as it wages a brutal conventional war in Ukraine. Scholars and practitioners should not pack up their hybrid war handbooks just yet, however. The need to limit conflict escalation between nuclear-armed adversaries suggests that non-military asymmetric tools of will increasingly define great power competition in the twenty-first century. Most urgently, scholars must bring some order to the conceptual debate over what is and is not hybrid war. In this policy paper, we propose a classification scheme that can be applied irrespective of the type of conflict, one that illuminates the wide range of political, social, economic and military weapons states may use in future conflicts. This approach not only allows us to move beyond endless debates over which tactics belong in the definition of hybrid war, but it also allows us to describe changes over time in how countries wage multi-domain wars. By describing the ‘hybridity’ of all conflict along three continuous axes of scale, militarization and centralization, scholars and policy-makers alike can avoid dangerous blind spots that are likely to arise when we try to categorize conflicts into discrete typological bins.
Are Video Games and School Conflictual or Complementary Contexts for Affording Psychological Need Fulfillment? Implications for Adolescents’ Problematic Gaming and School Adjustment
Authors: Bradt Lowie , Vermote Branko , Zaman Bieke , Vansteenkiste Maarten , Van de Casteele Marlies , Soenens Bart 
Published: June 2024

Abstract
According to the need density hypothesis, adolescents are at risk for problematic gaming when they only experience satisfaction of their basic psychological needs within, but not outside, the gaming context. This cross-sectional study among daily gamers (N = 309, M age = 15.63, 94.8% boys) is the first to examine this hypothesis in adolescence, thereby comparing adolescents’ need fulfillment between the contexts of video games and school and examining the role of need fulfilment in both contexts in relation to problematic gaming and school outcomes. Response surface analysis showed that adolescents’ overall need satisfaction (across the two contexts) was related to lower problematic gaming and less maladaptive school outcomes. Consistent with the need density hypothesis, adolescents reported more problematic gaming, school disengagement and school burnout when high need satisfaction in the gaming context co-occurred with either low need satisfaction or high need frustration at school. Directions for future research are discussed.
The d-elements of precoherent preidempotent quantales and their applications
Authors: Ruan Xianglong 
Published: June 2024

Abstract
In this paper, we introduce the notion of d-elements on precoherent preidempotent quantale (PIQ), construct Zariski topology on $Max(Q_{d})$ and explore its various properties. Firstly, we give a sufficient condition of a topological space $Max(Q_{d})$ being Hausdorff. Secondly, we prove that if $ P=\mathfrak{B}(P) $ and $ Q=\mathfrak{B}(Q) $, then $P$ is isomorphic to $Q$ iff $ Max(P_{d}) $ is homeomorphic to $ Max(Q_{d}) $. Moreover, we prove that $ (P\otimes Q)_{d} $ is isomorphic to $ P_{d} \otimes Q_{d} $ iff $ P_{d} \otimes Q_{d}=(P_{d} \otimes Q_{d})_{d} $. Finally, we prove that the category $ \textbf{dPFrm} $ is a reflective subcategory of $\textbf{PIQuant}.$
The tumor suppressor Fat1 is dispensable for normal murine hematopoiesis
Authors: Zhang Qing , Li Meng Ke , Hu Xin Yuan , Wu Yu Xin , Wang Ying Ying , Zhao Pan Pan , Cheng Lin Na , Yu Rong Hua , Zhang Xu Dong , Chen Song , Zhu Zun Min , de Bock Charles E , Thorne Rick F 
Published: June 2024

Abstract
Loss and overexpression of FAT1 occurs among different cancers, with these divergent states equated with tumor suppressor and oncogene activity, respectively. Regarding the latter, FAT1 is highly expressed in a high proportion of human acute leukemias relative to normal blood cells, with evidence pointing to an oncogenic role. We hypothesized that this occurrence represents legacy expression of FAT1 in undefined hematopoietic precursor subsets (i.e. sustained following transformation), predicating a role for FAT1 during normal hematopoiesis. We explored this concept by using the Vav-iCre strain to construct conditional knockout mice in which Fat1 expression was deleted at the hematopoietic stem cell stage. Extensive analysis of precursor and mature blood populations using multipanel flow cytometry revealed no ostensible differences between Fat1 conditional knockout mice and normal littermates. Further functional comparisons involving colony-forming unit and competitive bone marrow transplantation assays support the conclusion that Fat1 is dispensable for normal murine hematopoiesis.
Comparative susceptibility of adult house fly (Diptera: Muscidae) and an important predator, Carcinops pumilio (Coleoptera: Histeridae), to Beauveria bassiana (Hypocreales: Cordycipitaceae)
Authors: Geden Christopher J , White Roxie L , Pagac Alexandra A , Machtinger Erika T 
Published: June 2024

Abstract
House flies (Musca domestica L.) (Diptera: Muscidae) are challenging pests to control. Biological control using Carcinops pumilio beetles may help to reduce house fly populations. However, it is unknown if C. pumilio beetles are compatible with Beauveria bassiana, another house fly biological control option. Five strains of commercially available (GHA, HF23, and L90) and newly discovered (NFH10 and PSU1) strains of B. bassiana were used to test the comparative susceptibility of adult house flies and adult C. pumilio using different laboratory exposure methods. Adult house flies were susceptible to B. bassiana in contact filter paper assays (89%–98% mortality) and immersion assays (100% mortality) at the same 108 conidia suspension using 0.1% CapSil as an aqueous surfactant. Carcinops pumilio were less susceptible than flies to B. bassiana infection using the contact and immersion assays at the same 108 conidial concentration, with 4.4%–12.2% and 8.3%–24.6% mortality, respectively. Immersion in an aqueous conidial suspension resulted in higher mortality compared to contact with treated filter papers at the same 108 concentration with house flies and beetles. We conclude that C. pumilio can safely be used as a biological control agent for house flies with B. bassiana in animal production systems.
Significant strides: Women’s advancement in endurance sports
Authors: McKay Bowen Claire 
Published: June 2024

Abstract
In a break with tradition, the culminating event of the Paris 2024 Olympic Games will be the women’s marathon, not the men’s. Women have come a long way over the last century in being able to participate – and smash records – in endurance sports such as marathons, ultra-marathons, long-distance cycling and swimming, and triathlons. Claire McKay Bowen explores what has helped, and hindered, them along the way
Simultaneous repair of diaphragmatic hernia and ventricular septal defect with postoperative complication in a Down syndrome child
Authors: Almutairi Marshad A , Sultan Abdulsamad F , Alariefy Abdulaziz A , Alzahrani Nada A , Baghaffar Abdullah H , Al-Radi Osman O 
Published: June 2024

Abstract
Morgagni hernia (MH) is a rare form of congenital diaphragmatic hernia, typically occurring predominantly on the right side and exhibiting a higher prevalence in females. Usually diagnosed incidentally, MH may coexist with congenital heart defects, chest wall abnormalities and certain genetic syndromes such as Down syndrome. A 4-year-old boy with Down syndrome underwent simultaneous repair of MH and closure of a ventricular septal defect (VSD). A vertical midline sternotomy was performed, and the VSD was repaired using the right atrium approach. Subsequently, MH repair was conducted. Three weeks after the surgery, this patient developed a complete heart block, which lead to the implantation of a VVI pacemaker.
The Impact of Exposure to Food and Drug Administration E-cigarette Authorization Messages on Product Perceptions and Interest—An Experiment With Adults Who Smoke and Youth
Authors: Wackowski Olivia A , Jeong Michelle , Gratale Stefanie K , Weiger Caitlin , Chen-Sankey Julia , Strasser Andrew A , Delnevo Cristine D 
Published: June 2024

Abstract

Introduction
In the United States, e-cigarettes have entered a new regulatory era, needing authorizations from the Food and Drug Administration (FDA) to remain on or enter the marketplace. This study explored the impact of e-cigarette authorization messages on product perceptions and interests.

Aims and Methods
We conducted an online experiment in June 2022 with nationally representative samples of adults (≥21) who smoke cigarettes (n = 866) and youth ages 15–20 (n = 859). They were randomized to one of five conditions: Viewing an ad for a fictional e-cigarette brand with no reference to the FDA (control), an ad with an “authorized for sale by FDA” claim in varying presentation styles (plain text, FDA “approved” stamp, FDA logo), or reading a fictional news excerpt about the product’s authorization plus control ad. We compared group differences in product interest, susceptibility, harm perceptions, and message perceptions.

Results
Among adults who smoke, there were no effects on product interest nor susceptibility, but ratings of the product’s harmfulness compared to cigarettes were lower among those in the news versus control condition (β = −0.25, p = .04). Among youth, odds of susceptibility were higher among ever e-cigarette users who viewed the ad with the FDA logo authorization message relative to the control ad (OR = 6.3, 95% CI:1.67 to 23.9, p &lt; .01). About 40% of all participants agreed the authorization claim makes them think the product is safe to use, but fewer (14%–19%) agreed it makes them more interested in trying it.

Conclusions
FDA e-cigarette authorization messages may impact some product harm beliefs. More research is needed to track potential impacts on product use and on ways to promote accurate message understanding.

Implications
This study provides new data about the potential impact of messages about FDA authorization of e-cigarette products (presented as ad claims or a news story) on authorized product perceptions, interest, and susceptibility among adults who smoke cigarettes and youth. Our results suggest that FDA e-cigarette authorization messages may impact harm-related beliefs among adults who smoke and product susceptibility among youth who have ever used e-cigarettes before, though real-world effects are likely to be impacted by message type and format, and perceived message source and credibility. Authorization messages are likely to be misinterpreted as “FDA approval” by some; therefore, providing clarifications about authorization meaning and standards are relevant where possible.
The Frontiers of Nullification and Anticommandeering: Federalism and Extrajudicial Constitutional Interpretation
Authors: Hartery Jesse , Sigalet Geoffrey T 
Published: June 2024

Abstract
In federal systems, non-judicial actors can engage in constitutional reasoning. The actions taken may come in different legal forms. Some may be consistent with positive law, while others may not. Nullification and anticommandeering are prominent examples. We show that these concepts have functionally made new appearances in Canada. One significant example of this is Alberta’s enactment of the 2022 Sovereignty Act. We trace how the initial proposal for the legislation resembled nullification. Over time, the proposal was reformed to adapt it to the particularities of Canadian federalism. The result was a Sovereignty Act that appears to assert existing provincial powers, particularly as a formal framework for extrajudicial constitutional interpretation via anticommandeering, although only time will tell if this remains the case in practice. In doing so, we shine a light on the contours of some of the legal and political debates that may arise as the framework is operationalized.
Association of Problematic Internet Use With Psychotic Experiences and Depression in Adolescents: A Cohort Study
Authors: Narita Zui , Ando Shuntaro , Yamasaki Syudo , Miyashita Mitsuhiro , DeVylder Jordan , Yamaguchi Satoshi , Hosozawa Mariko , Nakanishi Miharu , Hiraiwa-Hasegawa Mariko , Furukawa Toshiaki A , Kasai Kiyoto , Nishida Atsushi 
Published: June 2024

Abstract

Background and Hypothesis
Problematic internet use (PIU) is prevalent among adolescents. Past research suggested cross-sectional associations between PIU and psychotic experiences, but little information is available on the longitudinal association. We hypothesized that PIU in adolescence may be longitudinally associated with psychotic experiences, adjusting for confounders.

Study Design
We analyzed a random sample of adolescents in the Tokyo Teen Cohort to examine how PIU at ages 10 (2012–2015), 12 (2014–2017), and 16 (2019–2021) was associated with mental health issues at age 16. PIU was evaluated by the modified Compulsive Internet Use Scale, psychotic experiences by the Adolescent Psychotic-like Symptom Screener, and depression by the Short Mood and Feelings Questionnaire. We also examined the mediating role of social withdrawal.

Study Results
We analyzed 3171 adolescents; 151 reported psychotic experiences and 327 reported depression at age 16. Compared with the lowest tertile PIU group, the highest tertile PIU group at age 12 showed an increased adjusted risk of psychotic experiences (RD 3.3%, 95% CI 2.9%–3.7%; RR 1.65, 95% CI 1.55–1.73) and depression (RD 5.9%, 95% CI 5.5%–6.3%; RR 1.61, 95% CI 1.55–1.68) at age 16. PIU at age 16 showed analogous results, while PIU at age 10 suggested a smaller impact. Social withdrawal mediated 9.4%–29.0% of the association between PIU and psychotic experiences.

Conclusions
PIU is longitudinally associated with psychotic experiences and depression in adolescents. Further longitudinal and intervention studies are warranted to provide robust public health implications and foster a safer digital future.
Dysregulated Transcript Expression but Not Function of the Glutamate Transporter EAAT2 in the Dorsolateral Prefrontal Cortex in Schizophrenia
Authors: O’Donovan Sinead M , Shan Dan , Wu Xiaojun , Choi Jae Hyuk , McCullumsmith Robert E 
Published: June 2024

Abstract

Background
Schizophrenia (SCZ) is a serious mental illness with complex pathology, including abnormalities in the glutamate system. Glutamate is rapidly removed from the synapse by excitatory amino acid transporters (EAATs). Changes in the expression and localization of the primary glutamate transporter EAAT2 are found in the brain in central nervous system (CNS) disorders including SCZ. We hypothesize that neuronal expression and function of EAAT2 are increased in the frontal cortex in subjects diagnosed with SCZ.

Study Design
EAAT2 protein expression and glutamate transporter function were assayed in synaptosome preparations from the dorsolateral prefrontal cortex (DLPFC) of SCZ subjects and age- and sex-matched nonpsychiatrically ill controls. EAAT2 splice variant transcript expression was assayed in enriched populations of neurons and astrocytes from the DLPFC. Pathway analysis of publicly available transcriptomic datasets was carried out to identify biological changes associated with EAAT2 perturbation in different cell types.

Results
We found no significant changes in EAAT2 protein expression or glutamate uptake in the DLPFC in SCZ subjects compared with controls (n = 10/group). Transcript expression of EAAT2 and signaling molecules associated with EAAT2b trafficking (CaMKIIa and DLG1) were significantly altered in enriched populations of astrocytes and pyramidal neurons (P &lt; .05) in SCZ (n = 16/group). These changes were not associated with antipsychotic medications. Pathway analysis also identified cell-type-specific enrichment of biological pathways associated with perturbation of astrocyte (immune pathways) and neuronal (metabolic pathways) EAAT2 expression.

Conclusions
Overall, these data support the growing body of evidence for the role of dysregulation of the glutamate system in the pathophysiology of SCZ.
Unlocking cellular plasticity: enhancing human iPSC reprogramming through bromodomain inhibition and extracellular matrix gene expression regulation
Authors: Yang Jun , Kinyamu H Karimi , Ward James M , Scappini Erica , Muse Ginger , Archer Trevor K 
Published: June 2024

Abstract
The transformation from a fibroblast mesenchymal cell state to an epithelial-like state is critical for induced pluripotent stem cell (iPSC) reprogramming. In this report, we describe studies with PFI-3, a small-molecule inhibitor that specifically targets the bromodomains of SMARCA2/4 and PBRM1 subunits of SWI/SNF complex, as an enhancer of iPSC reprogramming efficiency. Our findings reveal that PFI-3 induces cellular plasticity in multiple human dermal fibroblasts, leading to a mesenchymal-epithelial transition during iPSC formation. This transition is characterized by the upregulation of E-cadherin expression, a key protein involved in epithelial cell adhesion. Additionally, we identified COL11A1 as a reprogramming barrier and demonstrated COL11A1 knockdown increased reprogramming efficiency. Notably, we found that PFI-3 significantly reduced the expression of numerous extracellular matrix (ECM) genes, particularly those involved in collagen assembly. Our research provides key insights into the early stages of iPSC reprogramming, highlighting the crucial role of ECM changes and cellular plasticity in this process.