bluuebunny/crossref_metadata_2025_split huggingface dataset:
ZNF142mutation causes sex-dependent neurologic disorder
Authors: Proskorovski-Ohayon Regina , Eskin-Schwartz Marina , Shorer Zamir , Kadir Rotem , Halperin Daniel , Drabkin Max , Yogev Yuval , Aharoni Sarit , Hadar Noam , Cohen Hagit , Eremenko Ekaterina , Perez Yonatan , Birk Ohad S 
Published: January 2024

BackgroundSex-specific predilection in neurological diseases caused by mutations in autosomal genes is a phenomenon whose molecular basis is poorly understood. We studied females of consanguineous Bedouin kindred presenting with severe global developmental delay and epilepsy.MethodsLinkage analysis, whole exome sequencing, generation of CRISPR/cas9 knock-in mice, mouse behaviour and molecular studiesResultsLinkage analysis and whole exome sequencing studies of the affected kindred delineated a ~5 Mbp disease-associated chromosome 2q35 locus, containing a novel homozygous frameshift truncating mutation inZNF142, in line with recent studies depicting similarZNF142putative loss-of-function human phenotypes with female preponderance. We generated knock-in mice with a truncating mutation adjacent to the human mutation in the mouse ortholog. Behaviour studies of homozygousZfp142R1508*mice showed significant phenotype only in mutant females, with learning and memory deficits, hyperactivity and aberrant loss of fear of open spaces. Bone marrow and spleen of homozygousZfp142R1508*mice showed depletion of lymphoid and haematopoietic cells, mostly in females. RT-PCR showed lower expression ofZpf142in brain compartments of female versus male wild-type mice. RNA-seq studies of hippocampus, hypothalamus, cortex and cerebellum of female wild-type versus homozygousZfp142R1508*mice demonstrated differentially expressed genes. Notably, expression ofTaok1in the cortex and ofMllt6in the hippocampus was downregulated in homozygousZfp142R1508*mice.Taok1mutations have been associated with aberrant neurodevelopment and behaviour.Mllt6expression is regulated by sex hormones andMllt6null-mutant mice present with haematopoietic, immune system and female-specific behaviour phenotypes.ConclusionZNF142mutation downregulatesMllt6andTaok1,causing a neurodevelopmental phenotype in humans and mice with female preponderance.
Gut Microbiome and Stroke: a Bidirectional Mendelian Randomisation Study in East Asian and European Populations
Authors: Cheng Shiyao , Zheng Hao , Wei Yuandan , Lin Xingchen , Gu Yuqin , Guo Xinxin , Fan Zhe , Li Hao , Cheng Si , Liu Siyang 
Published: January 2024

Background and aimsObservational studies have implicated the involvement of gut microbiome in stroke development. Conversely, stroke may disrupt the gut microbiome balance, potentially causing systemic infections exacerbated brain infarction. However, the causal relationship remains controversial or unknown. To investigate bidirectional causality and potential ethnic differences, we conducted a bidirectional two-sample Mendelian randomisation (MR) study in both East Asian (EAS) and European (EU) populations.MethodsLeveraging the hitherto largest genome-wide association study (GWAS) summary data from the MiBioGen Consortium (n=18 340, EU) and BGI (n=2524, EAS) for the gut microbiome, stroke GWAS data from the GIGASTROKE Consortium(264 655 EAS and 1 308 460 EU), we conducted bidirectional MR and sensitivity analyses separately for the EAS and EU population.ResultsWe identified nominally significant associations between 85 gut microbiomes taxa in EAS and 64 gut microbiomes taxa in EU with stroke or its subtypes. Following multiple testing, we observed that genetically determined 1 SD increase in the relative abundance of speciesBacteroides pectinophilusdecreased the risk of cardioembolic stroke onset by 28% (OR 0.72 (95% CI 0.62 to 0.84); p=4.22e−5), and that genetically determined 1 SD increase in classNegativicutesresulted in a 0.76% risk increase in small vessel stroke in EAS. No significant causal association was identified in the EU population and the reverse MR analysis.ConclusionOur study revealed subtype-specific and population-specific causal associations between gut microbiome and stroke risk among EAS and EU populations. The identified causality holds promise for developing a new stroke prevention strategy, warrants further mechanistic validation and necessitates clinical trial studies.
Intravenous tenecteplase compared with alteplase for minor ischaemic stroke: a secondary analysis of the AcT randomised clinical trial
Authors: Nair Radhika , Singh Nishita , Kate Mahesh , Asdaghi Negar , Sarmiento Robert , Bala Fouzi , Coutts Shelagh B , Horn MacKenzie , Poppe Alexandre Y , Williams Heather , Ademola Ayoola , Alhabli Ibrahim , Benali Faysal , Khosravani Houman , Hunter Gary , Tkach Aleksander , Manosalva Alzate Herbert Alejandro , Pikula Aleksandra , Field Thalia , Trivedi Anurag , Dowlatshahi Dar , Catanese Luciana , Shuaib Ashfaq , Demchuk Andrew , Sajobi Tolulope , Almekhlafi Mohammed A , Swartz Richard H , Menon Bijoy , Buck Brian H 
Published: January 2024

BackgroundIn ischaemic stroke, minor deficits (National Institutes of Health Stroke Scale (NIHSS) ≤5) at presentation are common but often progress, leaving patients with significant disability. We compared the efficacy and safety of intravenous thrombolysis with tenecteplase versus alteplase in patients who had a minor stroke enrolled in the Alteplase Compared to Tenecteplase in Patients With Acute Ischemic Stroke (AcT) trial.MethodsThe AcT trial included individuals with ischaemic stroke, aged >18 years, who were eligible for standard-of-care intravenous thrombolysis. Participants were randomly assigned 1:1 to intravenous tenecteplase (0.25 mg/kg) or alteplase (0.9 mg/kg). Patients with minor deficits pre-thrombolysis were included in this post-hoc exploratory analysis. The primary efficacy outcome was the proportion of patients with a modified Rankin Score (mRS) of 0–1 at 90–120 days. Safety outcomes included mortality and symptomatic intracranial haemorrhage (sICH).ResultsOf the 378 patients enrolled in AcT with an NIHSS of ≤5, the median age was 71 years, 39.7% were women; 194 (51.3%) received tenecteplase and 184 (48.7%) alteplase. The primary outcome (mRS score 0–1) occurred in 100 participants (51.8%) in the tenecteplase group and 86 (47.5 %) in the alteplase group (adjusted risk ratio (RR) 1.14 (95% CI 0.92 to 1.40)). There were no significant differences in the rates of sICH (2.9% in tenecteplase vs 3.3% in alteplase group, unadjusted RR 0.79 (0.24 to 2.54)) and death within 90 days (5.5% in tenecteplase vs 11% in alteplase group, adjusted HR 0.99 (95% CI 0.96 to 1.02)).ConclusionIn this post-hoc analysis of patients with minor stroke enrolled in the AcT trial, safety and efficacy outcomes with tenecteplase 0.25 mg/kg were not different from alteplase 0.9 mg/kg.
Trendelenburg position for acute anterior circulation ischaemic stroke with large artery atherosclerosis aetiology (HOPES 3): rationale and design
Authors: Li Xiaoqiu , Guo Zhenni , Wang Lu , Wang Yue , Nguyen Thanh , Yang Yi , Chen Hui-Sheng 
Published: January 2024

Rationale
The effect of the head position as a non-pharmacological therapy on acute ischaemic stroke (AIS) remains inconclusive. Our recent Head dOwn-Position for acutE moderate ischaemic Stroke with large artery atherosclerosis (HOPES 2) suggested the safety, feasibility and potential benefit of the head-down position (HDP) in AIS.

Aim
To investigate the benefit of HDP in acute moderate ischaemic stroke patients with large artery atherosclerosis (LAA).

Sample size estimates
Based on a two-sided 0.05 level of significance, 600 patients are expected to yield the superiority hypothesis with 80% power, stratified by age, sex, history of diabetes, baseline systolic blood pressure, location of index vessel, National Institutes of Health Stroke Scale Score at randomisation, onset to randomisation time, progression to moderate neurological deficit due to early neurological deterioration and degree of responsible vessel stenosis.

Design
Head dOwn-Position for acutE moderate ischaemic Stroke with large artery atherosclerosis(HOPES 3) is a prospective, randomised, open-label, blinded endpoint and multicentre study. Eligible patients who had an ischaemic stroke will be randomly assigned (1:1) into the HDP group receiving −20° Trendelenburg plus standard medical care in compliance with national guidelines, or control group only receiving standard medical care in compliance with national guidelines.

Outcome
The primary outcome is favourable functional outcome, defined as modified Rankin Scale 0–2 at 90 days. Safety outcomes are HDP-related adverse events. All outcomes will have blinded assessment and will be analysed on the intention-to-treat basis.

Conclusions
The results of HOPES 3 will provide evidence for the effect of HDP in acute moderate ischaemic stroke patients with LAA within 24 hours of onset or in patients with progression from mild neurological deficit within 24 hours.

Trial registration number

NCT06010641
.
Identifying the systemic importance and systemic vulnerability of financial institutions based on portfolio similarity correlation network
Authors: Shao Manjin , Fan Hong 
Published: January 2024

AbstractThe indirect correlation among financial institutions, stemming from similarities in their portfolios, is a primary driver of systemic risk. However, most existing research overlooks the influence of portfolio similarity among various types of financial institutions on this risk. Therefore, we construct the network of portfolio similarity correlations among different types of financial institutions, based on measurements of portfolio similarity. Utilizing the expanded fire sale contagion model, we offer a comprehensive assessment of systemic risk for Chinese financial institutions. Initially, we introduce indicators for systemic risk, systemic importance, and systemic vulnerability. Subsequently, we examine the cross-sectional and time-series characteristics of these institutions’ systemic importance and vulnerability within the context of the portfolio similarity correlation network. Our empirical findings reveal a high degree of portfolio similarity between banks and insurance companies, contrasted with lower similarity between banks and securities firms. Moreover, when considering the portfolio similarity correlation network, both the systemic importance and vulnerability of Chinese banks and insurance companies surpass those of securities firms in both cross-sectional and temporal dimensions. Notably, our analysis further illustrates that a financial institution’s systemic importance and vulnerability are strongly and positively associated with the magnitude of portfolio similarity between that institution and others.
Account credibility inference based on news-sharing networks
Authors: Truong Bao Tran , Allen Oliver Melbourne , Menczer Filippo 
Published: January 2024

AbstractThe spread of misinformation poses a threat to the social media ecosystem. Effective countermeasures to mitigate this threat require that social media platforms be able to accurately detect low-credibility accounts even before the content they share can be classified as misinformation. Here we present methods to infer account credibility from information diffusion patterns, in particular leveraging two networks: the reshare network, capturing an account’s trust in other accounts, and the bipartite account-source network, capturing an account’s trust in media sources. We extend network centrality measures and graph embedding techniques, systematically comparing these algorithms on data from diverse contexts and social media platforms. We demonstrate that both kinds of trust networks provide useful signals for estimating account credibility. Some of the proposed methods yield high accuracy, providing promising solutions to promote the dissemination of reliable information in online communities. Two kinds of homophily emerge from our results: accounts tend to have similar credibility if they reshare each other’s content or share content from similar sources. Our methodology invites further investigation into the relationship between accounts and news sources to better characterize misinformation spreaders.
An alternative numerical solution for the Orr–Sommerfeld problem
Authors: Barletta Antonio , Brandão Pedro Vayssière , Celli Michele 
Published: January 2024

AbstractA simple tutorial for the numerical solution of the Orr–Sommerfeld problem is presented. The aim is the determination of the neutral stability threshold to the linear instability for the Poiseuille flow within a plane parallel channel. Such an instability is hydrodynamic in nature as it is driven by the advection term in the local momentum balance equation. The numerical solution is achieved by a spectral method. The basis functions are chosen as Chebyshev polynomials multiplied by a suitable overall factor meant to allow the fulfilment of the boundary conditions. The details of the numerical code implemented via the Mathematica software environment are also provided. A comparison with other numerical solutions of the same problem implemented via the tau-method is presented.
The Use of Frozen Theme Strategic Intervention Material to Improve the Uniformly Accelerated Motion Proficiency of Grade 9 Students
Authors: Pantilon Lasheundra Nie D. 
Published: January 2024

This study aimed to determine the used of Frozen Theme Strategic Intervention Material in improving the uniformly accelerated motion (UAM) proficiency of grade nine students at Jesus F. Magsaysay Technical Vocational High School. The study used quasi-experimental research method which involved fourthy five students in the control group and fourthy five in the experimental group. The control group was taught using the traditional method of instruction (TMI) while the experimental group was taught using the Frozen Theme Strategic Intervention Material (FT-SIM). A fifty-item conceptual test and the UAM Learning Strategies questionnaire were the tools used in the study.
The study revealed that a typical Grade nine student is aged fourteen and male. Prior to the treatment, the Grade nine students in both the control and experimental groups were performing Fairly Satisfactory in terms of level of proficiency. After the treatment, the students’ proficiency on UAM in the experimental group had improved to Very Satisfactory while the control group remained to be in the Fairly Satisfactory level. There is a significant difference in the level of proficiency of science students in the experimental group and no significant difference was noted in the control group. Both the control and experimental groups rarely practice the learning strategies in the uniformly accelerated motion (UAM), hence, the strategic intervention material was developed. The content teachers evaluated the instructional material as very useful.
Effect of Intensive Lifestyle Intervention on Cardiovascular Risk Factors: Analysis From the Perspective of Long‐Term Variability
Authors: He Lixiang , Liu Menghui , Zhuang Xiaodong , Guo Yue , Wang Peng , Zhou Zhuoming , Chen Zhuohui , Peng Longyun , Liao Xinxue 
Published: January 2024

Background
An association between variability of cardiovascular risk factors and cardiovascular events has been reported. We examined whether intensive lifestyle intervention (ILI) for weight loss decreased variability of cardiovascular risk factors with a view to additional cardiometabolic benefits.

Methods and Results
This study was a post hoc secondary analysis of the Look AHEAD (Action for Health in Diabetes) study. Cardiovascular risk factors were measured at 1‐year intervals for 4 years in 4249 adults with overweight or obesity and type 2 diabetes who were randomly assigned to ILI or diabetes support and education. Long‐term variability was defined as the SD of cardiovascular risk factors during 4‐year follow‐up. At multiple linear regression analysis, compared with the diabetes support and education group, the ILI group was associated with reduced variability of fasting blood glucose (β=−1.49 [95% CI, −2.39 to −0.59]), total cholesterol (β=−1.12 [95% CI, −1.75 to −0.48]), and low‐density lipoprotein cholesterol (β=−1.04 [95% CI, −1.59 to −0.49]), as well as increased variability of systolic blood pressure (β=0.27 [95% CI, 0.00–0.54]). No significant effect of ILI was found on the variability of diastolic blood pressure (β=−0.08 [95% CI, −0.22 to 0.05]).

Conclusions
Among adults with overweight or obesity and type 2 diabetes, ILI may reduce long‐term variability of fasting blood glucose, total cholesterol, and low‐density lipoprotein cholesterol. Our results support that ILI should be recommended to individuals with diabetes as part of management of long‐term glycemic and blood lipid control.
COVID‐19 Infection Is Associated With Poor Outcomes in Patients With Intracerebral Hemorrhage
Authors: Renedo Daniela , Leasure Audrey C. , Young Rebecca , Rivier Cyprien A. , Alhanti Brooke , Mac Grory Brian , Messe Steven R. , Reeves Mathew J. , Hassan Ameer E. , Schwamm Lee , de Havenon Adam , Matouk Charles C. , Sheth Kevin N. , Falcone Guido J. 
Published: January 2024

Background
Patients with ischemic stroke and concomitant COVID‐19 infection have worse outcomes than those without this infection, but the impact of COVID‐19 on hemorrhagic stroke remains unclear. We aimed to assess if COVID‐19 worsens outcomes in intracerebral hemorrhage (ICH).

Methods and Results
We conducted an observational study of ICH outcomes using Get With The Guidelines Stroke data. We compared patients with ICH who were COVID‐19 positive and negative during the pandemic (March 2020–February 2021) and prepandemic (March 2019–February 2020). Main outcomes were poor functional outcome (defined as a modified Rankin scale score of 4 to 6 at discharge), mortality, and discharge to a skilled nursing facility or hospice. The first stage included 60 091 patients with ICH who were COVID‐19 negative and 1326 COVID‐19 positive. In multivariable analyses, patients with ICH with versus without COVID‐19 infection had 68% higher odds of poor outcome (odds ratio [OR], 1.68 [95% CI, 1.41–2.01]), 51% higher odds of mortality (OR, 1.51 [95% CI, 1.33–1.71]), and 66% higher odds of being discharged to a skilled nursing facility/hospice (OR, 1.66 [95% CI, 1.43–1.93]). The second stage included 62 743 prepandemic and 64 681 intrapandemic cases with ICH. In multivariable analyses, patients with ICH admitted during versus before the COVID‐19 pandemic had 10% higher odds of poor outcomes (OR, 1.10 [95% CI, 1.07–1.14]), 5% higher mortality (OR, 1.05 [95% CI, 1.02–1.08]), and no significant difference in the risk of being discharged to a skilled nursing facility/hospice (OR, 0.93 [95% CI, 0.90–0.95]).

Conclusions
The pathophysiology of the COVID‐19 infection and changes in health care delivery during the pandemic played a role in worsening outcomes in the patient population with ICH.
Incidence, Risk Factors, and Outcomes Associated With Permanent Pacemaker Implantation Following Tricuspid Valve Surgery
Authors: Kassab Joseph , Harb Serge C. , Desai Milind Y. , Gillinov A. Marc , Layoun Habib , El Dahdah Joseph , Chedid El Helou Michel , Nakhla Shady , Elgharably Haytham , Kapadia Samir R. , Cremer Paul C. , Mentias Amgad 
Published: January 2024

Background
Data regarding permanent pacemaker (PPM) implantation following tricuspid valve surgery (TVS) are limited. We sought to evaluate its incidence, risk factors, and outcomes.

Methods and Results

Medicare beneficiaries who underwent TVS from 2013 to 2020 were identified. Patients who underwent TVS for endocarditis were excluded. The primary exposure of interest was new PPM after TVS. Outcomes included all‐cause mortality and readmission with endocarditis or heart failure on follow‐up. Among the 13 294 patients who underwent TVS, 2518 (18.9%) required PPM placement. Risk factors included female sex (relative risk [RR], 1.26 [95% CI, 1.17–1.36],
P
<0.0001), prior sternotomy (RR, 1.12 [95% CI, 1.02–1.23],
P
=0.02), preoperative second‐degree heart block (RR, 2.20 [95% CI, 1.81–2.69],
P
<0.0001), right bundle‐branch block (RR, 1.21 [95% CI, 1.03–1.41],
P
=0.019), bifascicular block (RR, 1.43 [95% CI, 1.06–1.93],
P
=0.02), and prior malignancy (RR, 1.23 [95% CI, 1.01–1.49],
P
=0.04). Tricuspid valve (TV) replacement was associated with a significantly higher risk of PPM implantation when compared with TV repair (RR, 3.20 [95% CI, 2.16–4.75],
P
<0.0001). After a median follow‐up of 3.1 years, mortality was not different in patients who received PPM compared with patients who did not (hazard ratio [HR], 1.02 [95% CI, 0.93–1.12],
P
=0.7). PPM placement was not associated with a higher risk of endocarditis but was associated with a higher risk of heart failure readmission (HR, 1.28 [95% CI, 1.14–1.43],
P
<0.001).

Conclusions
PPM implantation frequently occurs after TVS, notably in female patients and patients undergoing TV replacement. Although mortality is not increased, it is associated with higher rates of heart failure rehospitalization.
Culprit Lesion Vessel Size and Risk of Reperfusion Injury in ST‐Segment Elevation Myocardial Infarction: A Cardiac Magnetic Resonance Imaging Study
Authors: Lechner Ivan , Reindl Martin , Tiller Christina , Holzknecht Magdalena , Oberhollenzer Fritz , Mayr Agnes , Bauer Axel , Metzler Bernhard , Reinstadler Sebastian J. 
Published: January 2024

Background
Microvascular obstruction (MVO) and intramyocardial hemorrhage (IMH) are well‐established imaging biomarkers of failed myocardial tissue reperfusion in patients with ST‐segment elevation–myocardial infarction treated with percutaneous coronary intervention. MVO and IMH are associated with an increased risk of adverse outcome independent of infarct size, but whether the size of the culprit lesion vessel plays a role in the occurrence and severity of reperfusion injury is currently unknown. This study aimed to evaluate the association between culprit lesion vessel size and the occurrence and severity of reperfusion injury as determined by cardiac magnetic resonance imaging.

Methods and Results

Patients (n=516) with first‐time ST‐segment–elevation myocardial infarction underwent evaluation with cardiac magnetic resonance at 4 (3–5) days after infarction. MVO was assessed with late gadolinium enhancement imaging and IMH with T2* mapping. Vessel dimensions were determined using catheter‐based reference. Median culprit lesion vessel size was 3.1 (2.7–3.6) mm. MVO and IMH were found in 299 (58%) and 182 (35%) patients. Culprit lesion vessel size was associated with body surface area, diabetes, total ischemic time, postinterventional thrombolysis in myocardial infarction flow, and infarct size. There was no association between vessel size and MVO or IMH in univariable and multivariable analysis (
P
>0.05). These findings were consistent across patient subgroups with left anterior descending artery and non–left anterior descending artery infarctions and those with thrombolysis in myocardial infarction 3 flow post–percutaneous coronary intervention.

Conclusions
Comprehensive characterization of myocardial tissue reperfusion injury by cardiac magnetic resonance revealed no association between culprit lesion vessel size and the occurrence of MVO and IMH in patients treated with primary percutaneous coronary intervention for ST‐segment–elevation myocardial infarction.