bluuebunny/crossref_metadata_2025_split huggingface dataset:
Linear response theory
Authors: Nitzan Abraham 
Published: June 2024

Abstract
This chapter introduces linear response theory, a general way to describe non-equilibrium system in the vicinity of equilibrium. (1) Classical static and dynamic linear response theory. (2) Quantum static and dynamic linear response theory. (3) Causality and the Kramers–Kronig relations (4) Examples: Mobility, conductivity and diffusion. (5) Thermal noise.
Invited commentary: unveiling the grim reality—suicide mortality among formerly incarcerated individuals in North Carolina
Authors: Vest Noel 
Published: June 2024

Abstract
In the article by Fitch et al. (Am J Epidemiol 2024;193(3):489-499), the authors highlight the concerning prevalence of suicide mortality among formerly incarcerated individuals in North Carolina. Their retrospective study reveals a doubled suicide risk postrelease, with notable disparities among demographic groups. Urgent interventions are needed, including comprehensive reentry programs and systemic reforms to address structural inequalities. I suggest tailored support services to mitigate suicide risks and promote successful community reintegration, advocating for equity, justice, and human dignity in postrelease efforts.
Causal analysis of air pollution mixtures: estimands, positivity, and extrapolation
Authors: Antonelli Joseph , Zigler Corwin 
Published: June 2024

Abstract
Causal inference for air pollution mixtures is an increasingly important issue with appreciable challenges. When the exposure is a multivariate mixture, there are many exposure contrasts that may be of nominal interest for causal effect estimation, but the complex joint mixture distribution often renders observed data extremely limited in their ability to inform estimates of many commonly defined causal effects. We use potential outcomes to (1) define causal effects of air pollution mixtures, (2) formalize the key assumption of mixture positivity required for estimation, and (3) offer diagnostic metrics for positivity violations in the mixture setting that allow researchers to assess the extent to which data can actually support estimation of mixture effects of interest. For settings where there is limited empirical support, we redefine causal estimands that apportion causal effects according to whether they can be directly informed by observed data versus rely entirely on model extrapolation, isolating key sources of information on the causal effect of an air pollution mixture. The ideas are deployed to assess the ability of a national US data set on the chemical components of ambient particulate matter air pollution to support estimation of a variety of causal mixture effects.
This article is part of a Special Collection on Environmental Epidemiology.
Supervised learning of enhancer–promoter specificity based on genome-wide perturbation studies highlights areas for improvement in learning
Authors: Barth Dylan , Van Richard , Cardwell Jonathan , Han Mira V 
Published: June 2024

Abstract

Motivation
Understanding the rules that govern enhancer-driven transcription remains a central unsolved problem in genomics. Now with multiple massively parallel enhancer perturbation assays published, there are enough data that we can utilize to learn to predict enhancer–promoter (EP) relationships in a data-driven manner.

Results
We applied machine learning to one of the largest enhancer perturbation studies integrated with transcription factor (TF) and histone modification ChIP-seq. The results uncovered a discrepancy in the prediction of genome-wide data compared to data from targeted experiments. Relative strength of contact was important for prediction, confirming the basic principle of EP regulation. Novel features such as the density of the enhancers/promoters in the genomic region was found to be important, highlighting our lack of understanding on how other elements in the region contribute to the regulation. Several TF peaks were identified that improved the prediction by identifying the negatives and reducing False Positives. In summary, integrating genomic assays with enhancer perturbation studies increased the accuracy of the model, and provided novel insights into the understanding of enhancer-driven transcription.

Availability and implementation
The trained models, data, and the source code are available at http://doi.org/10.5281/zenodo.11290386 and https://github.com/HanLabUNLV/sleps.
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
Authors: Benkirane Mehdi , Bonhomme Marion , Morsy Heba , Safgren Stephanie L , Marelli Cecilia , Chaussenot Annabelle , Smedley Damian , Cipriani Valentina , de Sainte-Agathe Jean-Madeleine , Ding Can , Larrieu Lise , Vestito Letizia , Margot Henri , Lesca Gaetan , Ramond Francis , Castrioto Anna , Baux David , Verheijen Jan , Sansa Emna , Giunti Paola , Haetty Aline , Bergougnoux Anne , Pointaux Morgane , Ardouin Olivier , Van Goethem Charles , Vincent Marie-Claire , Hadjivassiliou Marios , Cossée Mireille , Rouaud Tiphaine , Bartsch Oliver , Freeman William D , Wierenga Klaas J , Klee Eric W , Vandrovcova Jana , Houlden Henry , Debant Anne , Koenig Michel 
Published: June 2024

Abstract
Alpha-tubulin 4A encoding gene (TUBA4A) has been associated with familial amyotrophic lateral sclerosis and frontotemporal dementia, based on identification of likely pathogenic variants in patients from distinct amyotrophic lateral sclerosis and frontotemporal dementia cohorts.
By screening a multicentric French cohort of 448 unrelated probands presenting with cerebellar ataxia, we identified ultra-rare TUBA4A missense variants, all being absent from public databases and predicted pathogenic by multiple in silico tools. In addition, gene burden analyses in the 100 000 Genomes project (100KGP) showed enrichment of TUBA4A rare variants in the inherited ataxia group compared to controls [odds ratio: 57.0847 (10.2−576.7); P = 4.02 ×10−7].
Taken together, we report 12 patients presenting with spasticity and/or cerebellar ataxia and harbouring a predicted pathogenic TUBA4A missense mutation, including five confirmed de novo cases and a mutation previously reported in a large family presenting with spastic ataxia. Cultured fibroblasts from three patients harbouring distinct TUBA4A missense showed significant alterations in microtubule organization and dynamics, providing insight of TUBA4A variants pathogenicity.
Our data confirm the identification of a hereditary spastic ataxia disease gene with variable age of onset, expanding the clinical spectrum of TUBA4A associated phenotypes.
MRI susceptibility artefacts caused by orthodontic wire
Authors: Iwamoto Yuri , Shimamoto Hiroaki , Felemban Doaa , Terai Tomoyuki , Kreiborg Sven , Mallya Sanjay M , Yang Fan-pei Gloria , Tanikawa Chihiro , Murakami Shumei 
Published: June 2024

Abstract

Objectives
To evaluate magnetic susceptibility artefacts produced by orthodontic wires on MRI and the influence of wire properties and MRI image sequences on the magnitude of the artefact.

Methods
Arch form orthodontic wires [four stainless steels (SS), one cobalt chromium (CC) alloy, 13 titanium (Ti) alloys] were embedded in a polyester phantom, and scanned using a 1.5-T superconducting magnet scanner with an eight-channel phased-array coil. All wires were scanned with T1-weighted spin echo (SE) and gradient echo (GRE) sequences according to the American Society for Testing and Materials (ASTM) F2119-07 standard. The phantom also scanned other eight sequences. Artefacts were measured using the ASTM F2119-07 definition and OsiriX software. Artefact volume was analysed according to metal composition, wire length, number of wires, wire thickness, and imaging sequence as factors.

Results
With SE/GRE, black/white artefacts volumes from all SS wires were significantly larger than those produced by CC and Ti wires (P &lt; .01). With the GRE, the black artefacts volume was the highest with the SS wires. With the SE, the black artefacts volume was small, whereas white artefacts were noticeable. The cranio-caudal extent of the artefacts was significantly longer with SS wires (P &lt; .01). Although a direct relationship of wire length, number of wires, and wire thickness with artefact volume was noted, these factors did not influence artefact extension in the cranio-caudal direction.

Conclusions
Ferromagnetic/paramagnetic orthodontic wires create artefacts due to local alteration of magnetic field homogeneity. The SS-type wires produced the largest artefacts followed by CC and Ti.
ECCO Guidelines on Therapeutics in Crohn’s Disease: Surgical Treatment
Authors: Adamina Michel , Minozzi Silvia , Warusavitarne Janindra , Buskens Christianne Johanna , Chaparro Maria , Verstockt Bram , Kopylov Uri , Yanai Henit , Vavricka Stephan R , Sigall-Boneh Rotem , Sica Giuseppe S , Reenaers Catherine , Peros Georgios , Papamichael Konstantinos , Noor Nurulamin , Moran Gordon William , Maaser Christian , Luglio Gaetano , Kotze Paulo Gustavo , Kobayashi Taku , Karmiris Konstantinos , Kapizioni Christina , Iqbal Nusrat , Iacucci Marietta , Holubar Stefan , Hanzel Jurij , Sabino João Guedelha , Gisbert Javier P , Fiorino Gionata , Fidalgo Catarina , Ellu Pierre , El-Hussuna Alaa , de Groof Joline , Czuber-Dochan Wladyslawa , Casanova María José , Burisch Johan , Brown Steven Ross , Bislenghi Gabriele , Bettenworth Dominik , Battat Robert , Atreya Raja , Allocca Mariangela , Agrawal Manasi , Raine Tim , Gordon Hannah , Myrelid Pär 
Published: June 2024

Abstract
This article is the second in a series of two publications on the European Crohn’s and Colitis Organisation [ECCO] evidence-based consensus on the management of Crohn’s disease. The first article covers medical management; the present article addresses surgical management, including preoperative aspects and drug management before surgery. It also provides technical advice for a variety of common clinical situations. Both articles together represent the evidence-based recommendations of the ECCO for Crohn’s disease and an update of prior ECCO Guidelines.
Intra-aortic balloon pump treatment in an adult patient with a Fontan circulation and acute heart failure: a case report
Authors: Langseth Miriam Sjåstad , Nordstrand Njord , Erikssen Gunnar 
Published: June 2024

Abstract

Background
There is limited evidence for the use of an intra-aortic balloon pump (IABP) in adult patients with a total cavopulmonary, or Fontan circulation.

Case summary
A patient in his twenties with a Fontan circulation presented with sepsis, pneumonia, and pulmonary oedema. He was born with a hypoplastic left ventricle, atrioventricular septal defect, and hypoplastic aortic arch, and a total cavopulmonary circulation had been established within his first years of life. Standard of care treatment with antibiotics, non-invasive ventilatory support, loop diuretics, and vasopressors was initiated. Due to persistent pulmonary congestion and increasing general fatigue, an IABP was placed via a femoral artery to offload the failing systemic ventricle. Secondary to IABP treatment, mean arterial pressure rose, and vasodilatory nitroprusside could be introduced. Over 4 days of IABP treatment, the patient’s general condition and ventricular systolic function improved significantly.

Discussion
This case suggests that IABP treatment was important in the recovery of our patient with a Fontan circulation, pneumonia, and heart failure. We propose that during IABP treatment, an increase in stroke volume and a reduction in ventricular filling pressure is achieved, thereby increasing the transpulmonary pressure gradient that is central to pulmonary blood flow in Fontan patients. More definitive evidence is necessary to confirm our hypotheses.
Dyadic relationships between informal caregivers and older adults with chronic heart failure: a systematic review and meta-synthesis
Authors: Yoong Si Qi , Tan Rachel , Jiang Ying 
Published: June 2024

Abstract

Aims
To synthesize the qualitative evidence on dyadic relationships between informal caregivers and older adults with chronic heart failure (HF).

Methods and results
A systematic review and meta-synthesis were conducted. Eight databases were searched for English peer-reviewed studies and grey literature published from inception to 27 February 2024. Qualitative and mixed-method studies involving older adults ≥55 years old with chronic HF and discussing patient–caregiver relationships in community settings were included. Data were synthesized using Sandelowski and Barroso’s two-step framework. A meta-summary was developed using thematic analysis, and findings were synthesized using the Theory of Dyadic Illness Management. Twenty-four studies from 2008 to 2024 were included (n = 580 participants). The meta-summary consisted of four themes and nine subthemes: (i) Characteristics of dyad relationships, (ii) How both parts of the dyad care for each other, (iii) Chronic HF and dyad relationships, and (iv) Knowledge of managing chronic HF. These were reorganized into the meta-synthesis: dyadic appraisal, dyadic management behaviours, dyadic health, contextual factors affecting dyadic relationships and management behaviours, and illness management as a dyadic phenomenon.

Conclusion
Investigating relationship dynamics and their impact on dyads and chronic HF self-care is vital. Where possible, healthcare providers should prioritize dyadic care when caregivers are involved and deliver individualized care to improve patient and caregiver outcomes. Assessing and optimizing dyadic relations, addressing individual perceptions and needs as part of clinical care, and before implementing self-care interventions in research may help ensure that self-care is appropriately tailored and would not be hindered by relationship conflicts.
Increased risk of atrial fibrillation with low cardiovascular health: life essential 8 in a dutch population
Authors: Te Hoonte F , Van Der Schouw Y T , Spronk M , Boer J M A , Verschuren W M M , Bots M L , Vernooij R W M , Uijl A 
Published: June 2024

Abstract

Introduction
The American Heart Association (AHA) introduced the concept of Life’s Essential 8 (LE8) to measure and monitor cardiovascular health (CVH) to prevent cardiovascular diseases.

Purpose
This study examined the association between LE8 and the incidence of atrial fibrillation (AF).

Methods
In total, 37,807 participants from the population-based European Prospective Investigation Into Cancer and Nutrition-Netherlands (EPIC-NL) cohort were included. The components diet, physical activity, sleep health, nicotine exposure, body mass index, blood glucose, blood lipids, blood pressure were all given a score between 0 and 100 and an overall LE8 score was created by averaging the component scores. The overall LE8 score was categorized into low cardiovascular health (CVH, 0-49), moderate CVH (50-79), and high CVH (80-100). AF cases were obtained through linkage with registries. A Cox proportional hazards model adjusted for age, sex, education level, heart failure, coronary heart disease, and alcohol consumption, was used to assess the association between LE8 and AF.

Results
The mean age of participants was 49 years ± 12 years and 75% of participants were female. During a median follow-up of 15.3 years (interquartile range: 14.1 – 26.5 years), 833 AF cases (2.3%) were identified. Compared to the participants with a high CVH score (19.5%), participants with a low CVH score (5%) had a 2 times higher hazard for incident AF (hazard ratio (HR) 1.99 [95% confidence interval (95%CI) 1.49 – 2.65]). Furthermore, a decrease in the number of ideal components was associated with a higher risk for incident AF (HR 1.11 [95%CI 1.05 – 1.18]).

Conclusions
The results show that a worse CVH, indicated by a lower LE8 score, is associated with an increased risk for incident AF. Preventing AF could potentially be achieved by implementing the LE8 score in clinical practice. Especially since LE8 is a tool that is easy to interpret and can be applied by healthcare providers to encourage patients to make improvements in the risk factors for AF.
Mechanical atrial recovery by speckle-tracking echocardiography in the prediction of recurrence at 2 years after successful cardioversion of persistent atrial fibrillation
Authors: Tomoaia R , Beyer R S , Dadarlat-Pop A , Zdrenghea D , Gavan D , Havrisciuc E , Fringu F , Pop D 
Published: June 2024

Abstract

Introduction
This study aimed to assess the significance of left atrial (LA) strain in patients with persistent atrial fibrillation (AF), undergoing electrical cardioversion (ECV) and to investigate their predictive value in determining AF recurrence (AFR) at 2-years.

Material and methods
60 patients who were admitted for persistent AF with a duration of less than 12 months were prospectively included. Echocardiography was performed in all patients prior to ECV and repeated at seven days during sinus rhythm (SR). Every patient underwent periodic follow-up over the next two years to determine whether the clinical endpoint of AFR had occurred.

Results
During the follow-up period, 42% of the patients developed AFR. On the initial echocardiography conducted during AF, there was no difference in any echocardiographic parameter between subjects exhibiting AFR and controls. However, reservoir strain (LASr SR) was significantly lower in patients who later developed AFR (7.3 ± 2.91 vs. 13.14 ± 5.35 %, p=0.0001). Contraction strain (LASct SR) was also significantly reduced in patients who later developed AFR (2.66 ± 1.18 vs. 5.93 ± 5.79 %, p=0.017). The multivariate regression analysis with adjustments for NT-proBNP values and the presence of diabetes showed that only LASr SR was an independent predictor of AFR (B = -0.32, p = 0.006). LASr SR values ≤ 12% demonstrated high accuracy (AUC=0.821, 95%CI 0.684 to 0.917), excellent sensitivity (100%), and moderate specificity (61%) in the prediction of AFR.

Conclusion
LA mechanics assessment may provide key information regarding the recovery of the LA function and the long-term risk of AFR. LASr before and after cardioversion
Heart in the midst of smog: the impact of air pollution on atrial fibrillation triggering (EP-PARTICLES Study)
Authors: Kurasz A , Lip G Y H , Swieczkowski M , Tomaszuk-Kazberuk A , Dobrzycki S , Kuzma L 
Published: June 2024

Abstract

Background
Atrial fibrillation (AF) is the most common arrhythmia and environmental conditions are one of its risk factors. With the ever-increasing burden of air pollution and the concomitant rise in atrial fibrillation cases, understanding and addressing this nexus holds significant implications for both clinical management and public health interventions.

Aim
To assess the relationship between air pollution and the occurrence of acute AF episodes.

Material and methods
The spatio-temporal analysis was performed on the EP-PARTICLES cohort constructed of residents of Eastern Poland (N= 8,077,671). Data on hospitalizations for 2011-2020 were obtained from regional departments of the National Health Fund. In the statistical analysis, a time series Poisson regression models were used. Results are presented as % increases of admissions - % IR, 95% confidence intervals - 95% CI.

Results
During the 10-year period, 311,645 hospitalizations due to AF were reported, including 252,566 acute admissions which were included in the final analysis. Each 10 µg/m3 increment of PM2.5 and NO2 concentration, 1 µg/m3 of SO2 and 10 ng/m3 of BaP concentration on the day of exposure resulted in a 1.13% (0.70%−1.55%), 1.65% (1.05%−2.26%), 0.11% (0.01%−0.21%), and 0.3% (0.04%−0.55%) increase in acute AF admissions, respectively. This effect persisted for up to 4 days and was more pronounced in women and older population. A 10 mg/m3 increase in PM2.5 increased AF admissions by 1.5% (95%CI 1.010-1.020) in less urbanized areas vs. 0.4% (0.996-1.012) in the highly urbanized ones. In a single-pollutant model, the relative risk in daily AF cases change per 10 μg/m3 increase in PM2.5 was 1.1%. This effect remained significant at the same level after the adjustment to BaP (1.011, 1006-1016), SO2 (1.011, 1.007-1.016), and NO2 (1.007, 1.003-1.012) in the two-pollutant model. PM2.5 showed a significantly stronger effect on AF during the days in which PM2.5 concentrations did not exceed WHO standards resulting in a 5.1% increase in AF admissions, in contrast to days when the norms were exceeded resulting in a 0.8% increase. Non-linear effects in the exposure-response functions were observed with steeper slopes of the pollutant-outcome associations in the lower ranges of exposures, which were far below the WHO air quality guidelines for daily mean of PM2.5 (15 mg/m3) and NO2 (10µg/m3). For the PM2.5 zero-emission scenario, we estimated 5,873 avoidable AF admissions (95% CI 3,679 to 8,047), as for NO2 - 3,295 avoidable AF admissions (2,108-4,477).

Conclusions
Air pollution, especially PM2.5 and NO2, acts as a triggering factor and is associated with acute AF incidents. The greater increase in acute AF episodes at pollutant concentrations below the WHO norms suggests that there is no safe level of pollution and any reduction in exposure, even at low levels, is crucial for effective cardiac prevention. Graphical abstract
Study on the impact of improved walking on peripheral arterial flow
Authors: Taquet A 
Published: June 2024

Abstract

Introduction
The study demonstrates that changes in the qualitative habits of human walking can improve peripheral arterial perfusion. The advised walking fashion requires little to no effort (1) and is coherent with the body’s natural development.

Purpose
Cardiovascular diseases stay silent for a long time (2). Their mechanical pathophysiological causes are underestimated (3, 4). This study proposes a precise mechanical solution of prevention for all, at lower risk, and sustainable.

Method
This study includes 39 patients. Each participant was their own witness. 31 women for 8 men aged between 17 and 72 years with a BMI from 16.6 to 32.49 kg/m2. The measurements, performed with a pulsed Echo-Doppler ultrasound, concern the maximum popliteal arterial velocity after walking 10 meters. The study compares the maximum popliteal arterial velocity after walking 10 meters in a usual fashion and after 10 meters in an optimized fashion, following mechanical tips to improve blood circulation. For a statistically valid comparison, patients follow a triple cross over distribution of groups.

Results
The maximum popliteal arterial velocity, after advised walking, were 2.1 times higher than the reference values obtained by walking in unaltered fashion (fig 1). This result was obtained with a p&lt;0.0001, regardless of age, BMI, or gender and without significant increase in their heart rate (fig 2).

Conclusions
An improvement of popliteal arterial flow, after following mechanical tips, is obtained without modification of the heart rate, thus requiring less effort and being more accessible to all.
The patient develops less mechanical stress with each step, feel less pain and inflammation, and is thus more prone to pursue his new habits.
It is very often difficult to obtain the patient’s adhesion to change its habits (2). This study, using visual and auditory means such as the Echo-Doppler, provides educational resources to make the patient an actor of his health. Graphical representation of the results Measurements of heart rate