bluuebunny/crossref_metadata_2025_split huggingface dataset:
Retrospective causal inference with multiple effect variables
Authors: Li Wei , Lu Zitong , Jia Jinzhu , Xie Min , Geng Zhi 
Published: September 2023

Summary
As highlighted in Dawid (2000) and Pearl & Mackenzie (2018), deducing the causes of given effects is a more challenging problem than evaluating the effects of causes in causal inference. Lu et al. (2023) proposed an approach for deducing causes of a single effect variable based on posterior causal effects. In many applications, there are multiple effect variables, and they can be used simultaneously to more accurately deduce the causes. To retrospectively deduce causes from multiple effects, we propose multivariate posterior total, intervention and direct causal effects conditional on the observed evidence. We describe the assumptions of no confounding and monotonicity, under which we prove identifiability of the multivariate posterior causal effects and provide their identification equations. The proposed approach can be applied for causal attributions, medical diagnosis, blame and responsibility in various studies with multiple effect or outcome variables. Two examples are used to illustrate the proposed approach.
Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population
Authors: Lam Tanya , Rocca Clarissa , Ibanez Kristina , Dalmia Anupriya , Tallman Samuel , Hadjivassiliou Marios , Hensiek Anke , Nemeth Andrea , Facchini Stefano ,   Genomics England Research Consortium, Ambrose J C , Arumugam P , Bevers R , Bleda M , Boardman-Pretty F , Boustred C R , Brittain H , Brown M A , Caulfield M J , Chan G C , Giess A , Griffin J N , Hamblin A , Henderson S , Hubbard T J P , Jackson R , Jones L J , Kasperaviciute D , Kayikci M , Kousathanas A , Lahnstein L , Lakey A , Leigh S E A , Leong I U S , Lopez F J , Maleady-Crowe F , McEntagart M , Minneci F , Mitchell J , Moutsianas L , Mueller M , Murugaesu N , Need A C , O’Donovan P , Odhams C A , Patch C , Perez-Gil D , Pereira M B , Pullinger J , Rahim T , Rendon A , Rogers T , Savage K , Sawant K , Scott R H , Siddiq A , Sieghart A , Smith S C , Sosinsky A , Stuckey A , Tanguy M , Taylor Tavares A L , Thomas E R A , Thompson S R , Tucci A , Welland M J , Williams E , Witkowska K , Wood S M , Zarowiecki M , Wood Nicholas , Cortese Andrea , Houlden Henry , Tucci Arianna 
Published: September 2023

Abstract
Spinocerebellar ataxias form a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive cerebellar ataxia. Their prevalence varies among populations and ethnicities. Spinocerebellar ataxia 36 is caused by a GGCCTG repeat expansion in the first intron of the NOP56 gene and is characterized by late-onset ataxia, sensorineural hearing loss and upper and lower motor neuron signs, including tongue fasciculations. Spinocerebellar ataxia 36 has been described mainly in East Asian and Western European patients and was thought to be absent in the British population. Leveraging novel bioinformatic tools to detect repeat expansions from whole-genome sequencing, we analyse the NOP56 repeat in 1257 British patients with hereditary ataxia and in 7506 unrelated controls. We identify pathogenic repeat expansions in five families (seven patients), representing the first cohort of White British descent patients with spinocerebellar ataxia 36. Employing in silico approaches using whole-genome sequencing data, we found an 87 kb shared haplotype in among the affected individuals from five families around the NOP56 repeat region, although this block was also shared between several controls, suggesting that the repeat arises on a permissive haplotype. Clinically, the patients presented with slowly progressive cerebellar ataxia with a low rate of hearing loss and variable rates of motor neuron impairment. Our findings show that the NOP56 expansion causes ataxia in the British population and that spinocerebellar ataxia 36 can be suspected in patients with a late-onset, slowly progressive ataxia, even without the findings of hearing loss and tongue fasciculation.
Targeted DNA Methylation Analysis Facilitates Leukocyte Counts in Dried Blood Samples
Authors: Hubens Wouter H G , Maié Tiago , Schnitker Matthis , Bocova Ledio , Puri Deepika , Wessiepe Martina , Kramer Jan , Rink Lothar , Koschmieder Steffen , Costa Ivan G , Wagner Wolfgang 
Published: September 2023

Abstract

Background
Cell-type specific DNA methylation (DNAm) can be employed to determine the numbers of leukocyte subsets in blood. In contrast to conventional methods for leukocyte counts, which are based on cellular morphology or surface marker protein expression, the cellular deconvolution based on DNAm levels is applicable for frozen or dried blood. Here, we further enhanced targeted DNAm assays for leukocyte counts in clinical application.

Methods
DNAm profiles of 40 different studies were compiled to identify CG dinucleotides (CpGs) with cell-type specific DNAm using a computational framework, CimpleG. DNAm levels at these CpGs were then measured with digital droplet PCR in venous blood from 160 healthy donors and 150 patients with various hematological disorders. Deconvolution was further validated with venous blood (n = 75) and capillary blood (n = 31) that was dried on Whatman paper or on Mitra microsampling devices.

Results
In venous blood, automated cell counting or flow cytometry correlated well with epigenetic estimates of relative leukocyte counts for granulocytes (r = 0.95), lymphocytes (r = 0.97), monocytes (r = 0.82), CD4 T cells (r = 0.84), CD8 T cells (r = 0.94), B cells (r = 0.96), and NK cells (r = 0.72). Similar correlations and precisions were achieved for dried blood samples. Spike-in with a reference plasmid enabled accurate epigenetic estimation of absolute leukocyte counts from dried blood samples, correlating with conventional venous (r = 0.86) and capillary (r = 0.80) blood measurements.

Conclusions
The advanced selection of cell-type specific CpGs and utilization of digital droplet PCR analysis provided accurate epigenetic blood counts. Analysis of dried blood facilitates self-sampling with a finger prick, thereby enabling easier accessibility to testing.
Metabolic targeting of platelets to combat thrombosis: dawn of a new paradigm?
Authors: Flora Gagan D , Nayak Manasa K , Ghatge Madankumar , Chauhan Anil K 
Published: September 2023

Abstract
Current antithrombotic therapies used in clinical settings target either the coagulation pathways or platelet activation receptors (P2Y12 or GPIIb/IIIa), as well as the cyclooxygenase (COX) enzyme through aspirin. However, they are associated with bleeding risk and are not suitable for long-term use. Thus, novel strategies which provide broad protection against platelet activation with minimal bleeding risks are required. Regardless of the nature of agonist stimulation, platelet activation is an energy-intensive and ATP-driven process characterized by metabolic switching toward a high rate of aerobic glycolysis, relative to oxidative phosphorylation (OXPHOS). Consequently, there has been considerable interest in recent years in investigating whether targeting metabolic pathways in platelets, especially aerobic glycolysis and OXPHOS, can modulate their activation, thereby preventing thrombosis. This review briefly discusses the choices of metabolic substrates available to platelets that drive their metabolic flexibility. We have comprehensively elucidated the relevance of aerobic glycolysis in facilitating platelet activation and the underlying molecular mechanisms that trigger this switch from OXPHOS. We have provided a detailed account of the antiplatelet effects of targeting vital metabolic checkpoints such as pyruvate dehydrogenase kinases (PDKs) and pyruvate kinase M2 (PKM2) that preferentially drive the pyruvate flux to aerobic glycolysis. Furthermore, we discuss the role of fatty acids and glutamine oxidation in mitochondria and their subsequent role in driving OXPHOS and platelet activation. While the approach of targeting metabolic regulatory mechanisms in platelets to prevent their activation is still in a nascent stage, accumulating evidence highlights its beneficial effects as a potentially novel antithrombotic strategy.
Determinants of left atrial stiffness by reservoir strain using 2D speckle tracking echocardiography in structurally normal heart
Authors: Elsayegh Aya Tarek , Mohamed Asous Osama Mohameden , El misiri Ahmed Mohamed 
Published: September 2023

Abstract

Introduction
The left atrium (LA)’s essential function is modulating left ventricular (LV) filling via its different reservoir, conduit, and contractile functions. This could be accurately achieved now by dedicated speckle-tracking echocardiography software.

Methodology
We included in this prospective cohort study 200 subjects with structurally normal hearts, who present for elective echocardiography, routine echocardiography was performed in addition to left atrial strain analysis by 2D speckle tracking echocardiography.

Aim of work
To study the effect of different variables on left atrial reservoir strain.

Results
The study population consisted of 134 males and 66 females, age range between 20 and 69 years of age. linear regression analysis was performed to examine the contributions of different variables as predictors in explaining the variance.
S-R (strain reservoir) was significantly affected by age in a negative correlation with P = 0.032. Body weight, height, BMI (body mass index), lipid profile and HbA1C (glycosylated hemoglobin) had no significant impact on S-R left atrial function. All echocardiographic parameters of diastolic function including E/A ratio, Septal E′, Lateral E′, E/E′ and TR jet velocity had no significant impact on S-R left atrial function.
Maximum and minimum indexed left atrial volumes, indexed LV systolic and diastolic volumes measured by Simpson’s method had no significant effect on S-R left atrial function.

Conclusion
Left atrial stiffness increases with age. Obesity, dyslipidemia, impaired glucose tolerance and diastolic dysfunction have no significant effect on the S-R of the left atrium.

Additional Content
An author video to accompany this abstract is available on https://academic.oup.com/eurheartjsupp. Please click on the arrow next to ‘More Content’ and then click on ‘Author videos’.
Immediate, short-term, and long-term effects of balloon mitral valvuloplasty on the left atrial global longitudinal strain and its correlation to the outcomes in patients with severe rheumatic mitral stenosis
Authors: Setouhi Amr , Boshra Hesham , Askalany Hany , Farrag Hazem M A 
Published: September 2023

Abstract

Background
Global longitudinal left atrial strain (GLS) has been used as a new assessment tool for left atrial function.

Aim
To investigate the effect of balloon mitral valvuloplasty (BMV) in patients with severe rheumatic mitral stenosis on GLS and its relation to the mitral valve area achieved after the procedure.

Methods
The study included 95 patients with severe mitral stenosis who fulfilled the criteria for BMV (case group) and 80 normal healthy subjects (control group). All included participants underwent complete echocardiographic examinations. For the case group, GLS was assessed by 2D speckle-tracking Echocardiography before valvuloplasty, immediately after, within 24 h, at 6 months, and at 12 months, and the results were compared.

Results
The impaired left-atrium strain in patients with severe mitral stenosis was improved immediately after BMV, and the improvement continued at 6 and 12 months post-BMV (23.1% ± 4.2 vs. 36.0 % ± 4.9, 36.2% ± 4.5, and 40.1% ± 9.5, respectively P &lt; 0.01). After BMV, there was a significant decrease in left atrial volume (76.3 ± 12.4 mL/m2 vs. 68.6 ± 10.4 mL/m2, P &lt; 0.01) and a significant increase in the area occupied by the mitral valve (1.02 ± 0.18 cm2 vs. 1.60 ± 0.31 cm, P &lt; 0.01).The immediate GLS and the mitral valve area were positively correlated (r = 0.64, P &lt; 0.01). Furthermore, the immediate GLS was associated with significantly improved function class (P &lt; 0.01).

Conclusion
GLS can indicate left atrial function (mainly reservoir function). The improvement observed in patients after BMV may indicate that GLS can be used to evaluate the progress after BMV.

Additional Content
An author video to accompany this abstract is available on https://academic.oup.com/eurheartjsupp. Please click on the arrow next to ‘More Content’ and then click on ‘Author videos’.
Stenting the unprotected left main coronary artery- mid-term outcomes of the observational registry
Authors: Rafla Samir , Zaki Amr , Loutfi Mohamed , Sadaka Mohamed Ahmed , Shebl Moataz 
Published: September 2023

Abstract

Background
New imaging modalities such as IVUS had improved results of Stenting of the unprotected left main coronary artery (UPLM). The results of stenting UPLM without these new modalities but with meticulous care need to be studied more.

Methods
This prospective and retrospective study was performed in multiple local centers. The local ethics committee approved the study, and the patients signed informed consent. In addition, the local heart team, including a cardiac surgeon, was consulted for a joint decision agreement. In the last five years, one hundred twenty patients with left main disease &gt;50% were subjected to stenting with drug- eluted stents.All patients were subjected to detailed history taking with particular emphasis on acute coronary syndrome, angina duration, class, previous coronary interventions, and medications. In addition, 12 lead ECGs were revised with an evaluation of ST/T changes and any old infarction. An echocardiographic examination was done on all patients. Relevant laboratory tests were done.Risk assessment was calculated for every patient, including Euro SCORE and Syntax score. Patient selection: Consecutive patients arriving for primary Stenting or acute coronary episode were included. Medications: All patients received clopidogrel and aspirin before the planned procedure. Anticoagulation with unfractionated heparin in a dose of 10000 IU was given at the beginning of the PCI. Post PCI, all patients received B blockers, ACE inhibitors, statins, and dual antiplatelets in the guidelines recommended doses. Calcification was assessed by angiographic imaging only. We estimated the vessel diameter as 2/3 diameter of the branches. PCI technique: A steerable guidewire was advanced in LAD, followed by PCI with pre-dilatation or direct Stenting according to the operator’s discretion. One or two stent strategy was utilized according to the situation of the lesions.

Results
92 patients (77.3%) presented with ACS, of which 65 patients (54.6%) had no Previous Intervention, and 27 patients (22.7%) had a previous PCI. Left ventricular ejection fraction significantly correlates with the complication at six months follow-up; all 16 patients with reported complications (100%) had baseline LVEF of &lt;40% (P-value = 0.023).

Syntax score
11 patients (55%) with a high score of more than 32 had adverse events, P = 0.004. Residual syntax shows a less significant correlation with a mean value of 7.3 in the complication group vs. 4.9 in the other group (P = 0.016). Final kissing balloon inflation shows no statistically significant difference.

Conclusions
PCI in UPLM is a safe, feasible option with a high technical success rate and acceptable outcome at follow-up, even without the utilization of IVUS
The development of a free and user-friendly health education website targeting Egyptians with cardiovascular diseases
Authors: El-Khatib Mohamed , Eltayyeb Mahmoud , Mohamed Nevin , Mostafa Saber 
Published: September 2023

Abstract

Background
Health care provider’s patient education promotes patients’ comprehension and adherence to medical instructions, hence improving patient health. Various obstacles exist in providing successful patient education to patients with multiple chronic diseases, such as providing the appropriate time, variety, and types of learning materials, as well as assessing the level of comprehension. To assist in overcoming these obstacles, it is essential to investigate new electronic tools for patient education, such as mobile devices, interactive media, and multimedia educational content in healthcare facilities.

Aim
Determine the steps that need to be taken to develop a user-friendly, cost-free website for health education.

Process and Steps
Create a specialized team to manage the process of creating educational resources and a website; in MYF, the team comprised of nurses who moderate the website, create the leaflets and films, and an external supporter who edited and directed the videos.
Choose the appropriate website and design templates. The MYF nurses use (Google Site), which is a free, easy-to-use website design tool, and for leaflets, the team uses (Ai illustrator), which is an easy-to-use software application for writing, sketching, and adding attractive images.
Identify the patient education needs based on patient-centeredness and the most prevalent cardiac diseases, procedures, and preventative measures via the educational council.
The offered leaflets are written in Arabic and English. The videos presented have Arabic voiceovers and subtitles. Using the most up-to-date evidence-based resources, identify the appropriate evidence-based resources. Determine the appropriate presenting techniques using electronic leaflets and educational videos. Materials design, including leaflet and video design, script, and voiceover development.
Revision of instructional materials through the educational council. Following admission to the hospital, the nurses in charge conduct a health awareness session about the health education website and provide the link/QR code for accessing the website after discharge.

Challenges
Patients have barriers to using the free website due to economic circumstances and tocology illiteracy, such as a lack of access to a cellphone or internet, or an inability to utilise the associated technology. Additionally, MYF provide printed materials or invent other family members who can access the website for.

Conclusion
Clinicians can reduce patient apprehension and confusion and enhance the related knowledge by directing them to credible, up-to-date, and comprehensible sources of knowledge provided on a user-friendly health education website on a variety of internet platforms is regarded as a valuable cost-effective and expense-reduction strategy.

Recommendation
Health care facilities should develop free and user-friendly educational websites which will enhance patient knowledge and awareness.
Utility of residual SYNTAX score to predict clinical outcome after acute myocardial infarction
Authors: Samir Ahmad , Elshinawi Mai , Yehia Hesham , Mahjouri Mohamed , Elhafy Mohamed , Shehata Ahmed , Zarif Bassem , Farrag Azza 
Published: September 2023

Abstract

Aims
Acute myocardial infarction (AMI) represents a huge health burden and a growing economical challenge, particularly with recurrent major adverse cardiovascular events (MACE). Large attention is critically mandated to identify population at higher risk for recurrent MACE to maximize secondary preventive measures. This study aimed to evaluate the utility of residual SYNTAX Score (RSS) after percutaneous coronary intervention (PCI) to the culprit vessel(s) in patients with AMI (STEMI or NSTEMI) to predict 6-months clinical outcomes.

Methods and results
A total of 492 eligible AMI patients were recruited through a period of 12 months. The RSS was systematically calculated after the PCI procedures. Median RSS was 4 (minimum 0–maximum 47.5). RSS showed excellent association to mid-term clinical outcomes. At cut-off value of RSS 3 had robust prediction for subsequent heart failure (HF), recurrent AMI, unplanned revascularization and the composite of MACE (P &lt; 0.001). A significantly higher RSS was found in those who developed heart failure through the 6-months follow up period compared to those who did not (10 vs. 3, P &lt; 0.001). Similar significant difference was found for recurrent ACS (11.5 vs. 3, P &lt; 0.001), unplanned revascularization (15 vs. 3, P &lt; 0.001) and occurrence of MACE (12 vs. 3, P &lt; 0.001).

Conclusions
RSS is a sensitive predictor for 6-months adverse clinical outcomes after AMI. Calculating RSS at the end of PCI can guide intensification of secondary preventive measures. Ability of RSS- tailored management to impact clinical outcomes in high-risk patients is to be evaluated.Improvement, with subsequent amelioration of LV diastolic function. The Dapa group had a significantly greater improvement in LVEF at four months and six months compared to the Empa group. While the Empa group showed a significant improvement in HbA1C at six months compared to the Dapa group.

Additional Content
An author video to accompany this abstract is available on https://academic.oup.com/eurheartjsupp. Please click on the arrow next to ‘More Content’ and then click on ‘Author videos’.
Deferred Stenting for Side Branch in STEMI Patients Presented by Bifurcation Culprit Lesion
Authors: Tantawy Mahmoud , Hussien Sherif , Mosaad Sameh 
Published: September 2023

Abstract

Background
True bifurcation lesions are challenging in some special populations like patients with heavily calcified vessels, unprotected left main, and thrombus-containing lesions. Multiple inflations are known to increase the incidence of no-reflow/slow-flow (NR/SL) during primary PCI. The ideal bifurcation stenting strategy during primary PCI is still obscure. Some studies have shown some benefits for deferred stenting in primary PCI but still this area needs more evidence.
In our study, we compared deferred stenting for the side branch during primary PCI versus the complete bifurcation stenting strategy during primary PCI.

Methods
This is prospective observational study included patients who presented with STEMI due to true bifurcation culprit lesion amenable for two stents technique. Group one included patients with provisional stenting and deferred side branch stenting before hospital discharge. Group two included patients with complete two stents bifurcation technique during primary PCI. The technique used was according to operator discretion while patients with immediate indications for two stents strategy during the primary setting were excluded from our study.
The primary outcome was MACE till hospital discharge. Secondary outcomes included angiographic outcomes by the end of the bifurcation technique.

Results
A total of 60 patients met our inclusion criteria, mean age (58.69±9.61), 31.2% women. Twenty-six patients received deferred stenting for side branch, and 34 received complete two stents bifurcation strategy at the primary PCI setting. MACE to hospital discharge was lower in the deferred stenting group without significant difference (21.62% vs 23.64%, P&gt;0.01] compared with the two-stenting approach during primary PCI.
Group I (deferred stenting) had significantly superior angiographic outcomes than group II. As regards TIMI II-III flow, 86.2% of patients achieved it in both main vessel and side branch versus 51.1% in group II, CTFC was 8.1 versus 9.6, and in group I, 78% of patients achieved TMPG II-III, compared to 56.7% in group II.

Conclusion
Deferred stenting for side branch in primary PCI achieved superior angiographic outcomes in the treatment of true bifurcation lesions. However, there was no significant difference in MACE between both strategies.