bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel loss-of-function mutations in TNFAIP3 gene in patients with lupus nephritis
Authors: Zhang Changming , Han Xu , Sun Li , Yang Sirui , Peng Jiahui , Chen Yinghua , Jin Ying , Xu Feng , Liu Zhihong , Zhou Qing 
Published: May 2022

ABSTRACT

Background
Heterozygous loss-of-function mutations in the tumour necrosis factor alpha induced protein 3 (TNFAIP3) gene cause an early-onset auto-inflammatory disease named haploinsufficiency of A20 (HA20). Here we describe three unrelated patients with autoimmune lupus nephritis (LN) phenotypes carrying three novel mutations in the TNFAIP3 gene.

Methods
Whole-exome sequencing (WES) was used to identify the causative mutations in three biopsy-proven LN patients. Sanger sequencing and quantitative polymerase chain reaction (qPCR) were used to validate the mutations identified by WES. RNA sequencing, qPCR and cytometric bead array was used to detect inflammatory signatures in the patients.

Results
The patients predominantly presented with an autoimmune phenotype, including autoimmune haemolytic anaemia, multipositive autoantibodies and LN. Additionally, novel phenotypes of allergy and pericardial effusion were first reported. WES identified three novel heterozygous mutations in the TNFAIP3 gene, including a novel splicing mutation located in the canonical splicing site (c.634+2T&gt;C) resulting in an intron 4 insertion containing a premature stop codon, a de novo novel copy number variation (exon 7–8 deletion) and a novel nonsense mutation c.1300_1301delinsTA causing a premature stop codon. We further identified hyperactivation signatures of nuclear factor- kappa B and type I IFN signalling and overproduction of pro-inflammatory cytokines in the blood. This report expanded the phenotype to a later age, as two girls were diagnosed at age 3 years and one man at age 29 years.

Conclusions
Kidney involvement may be the main feature of the clinical spectrum of HA20, even in adults. Genetic screening should be considered for early-onset LN patients.
Correlation of cholesterol efflux capacity with femoral and carotid plaque volume measured by sonographic 3D plaque volumetry
Authors: Noflatscher M , Hunjadi M , Schreinlechner M , Sommer P , Lener D , Mair F , Theurl M , Kirchmair R , Bauer A , Ritsch A , Marschang P 
Published: May 2022

Abstract

Funding Acknowledgements
Type of funding sources: Public grant(s) – National budget only. Main funding source(s): Österreichische Nationalbank
Introduction Atherosclerosis is a systemic multifocal disease that can cause the narrowing and occlusion of arteries resulting in cardiovascular disease (CVD). Hypercholesterolemia plays a pivotal role in the pathogenesis of atherosclerotic plaques by the accumulation of cholesterol in the arterial wall. Cholesterol efflux mediated by HDL is capable of transporting cholesterol from the periphery back to the liver in a process called reverse cholesterol transport. Cholesterol efflux capacity (CEC) is inversely correlated with cardiovascular risk and proposed as a surrogate marker for reverse cholesterol transport. In this study, we set out to study a possible association between CEC and peripheral plaque volume.

Methods
Since lipid-lowering therapy interferes with CEC, we studied a subset of 176 patients (48.9% females) with a median age of 64 (IQR 57-70) without lipid-lowering medication that had been included in a study of 443 patients with at least one cardiovascular risk factor or established CVD. CETP-mediated cholesterol ester transfer was measured by quantifying the transfer of cholesterol ester from radiolabelled exogenous HDL to apoB-containing lipoproteins. CEC was determined using cAMP treated 3H-cholesterol-labeled J774 cells. Plaque volume in the carotid and the femoral artery was measured using a 3D ultrasound system equipped with semi-automatic software.

Results
We found a strong inverse correlation between CEC and high total plaque volume (p = 0.027) in patients without lipid-lowering therapy. On the other hand, there was no correlation between CETP-mediated cholesterol ester transfer (3h) and (16h), LDL- cholesterol, or lipoprotein(a) with total plaque volume.

Conclusion
CEC correlates inversely with peripheral atherosclerosis in patients not taking lipid-lowering therapy, further strengthening its role as a cardiovascular biomarker.
Venoarterial extracorporeal membrane oxygenation support for acute fulminant myocarditis
Authors: Ferraz LM , Costa C , Ferreira R , Faustino A , Albuquerque R , Paiva J , Neves A 
Published: May 2022

Abstract

Funding Acknowledgements
Type of funding sources: None.

Introduction
Acute fulminant myocarditis (AFM) may be life threatening. Venoarterial extracorporeal membrane oxygenation (VA-ECMO) can provide an effective cardiocirculatory support.

Purpose
This study aims to evaluate the clinical course and the prognosis of patients (P) with fulminant myocarditis supported by VA-ECMO.

Methods
Observational retrospective single-center study of 15 consecutive P (73% women; 45,6±11,6 years; body mass index 26,7±2,23kg/m2) admitted to an intensive care unit (ICU) for AFM managed by peripheral VA-ECMO between 2008 and 2018. Were included P with diagnosis of myocarditis, recent onset of symptoms and severe hemodynamic compromise within 7 days following hospital admission. P were followed during 29,4±8,4 months after discharge to identify rehospitalization due to cardiovascular causes (re-hosp), recurrence of myocarditis or death.

Results
The P had previous history of hypertension (20%), diabetes (13%), dyslipidemia (20%), autoimmune disease (7%), previous acute myocarditis (7%), 20% were former smokers and 7% active smoker. The main clinical presentation was chest pain (27%), dyspnea /heart failure (47%) and epigastric pain/nausea (13%). The media between symptom onset and hospitalization was 14,9±6,5 days. The total hospital length of stay was 37±6,9 days, with 18,7±16,1 days in the ICU. During hospitalization, arrhythmias were documented in 40%: atrial fibrillation/flutter (13%), complete atrioventricular block (13%), ventricular tachycardia (13%), ventricular fibrillation (7%), asystole (7%) and electrical storm (7%). Medical therapy included corticosteroids in 47% of P, immunosuppressive therapy in 13% and intravenous immunoglobulin in 13%. The mean duration of VA-ECMO support was 8,5±6,2 days. 27% had preserved left ventricular systolic ejection fraction (LVEF), 13% left ventricular dilation, 13% pericardial effusion and 13% late gadolinium enhancement. The mean LVEF was 23±8,2%. Endomyocardial biopsy was diagnostic for 3 out of 4P in which was performed. The etiology of myocarditis was identified in 60% of P: viral (33%), autoimmune (7%) and pheochromacitoma (20%). During hospitalization 5P (33%) died (3 in the ICU). The P who died had higher liver sequential organ failure assessment (SOFA) and kidney SOFA scores before starting ECMO, both being predictors of mortality (liver SOFA:Cramér’sV 0,76;95%CI 0,009-0,014;p=0,01;kidney SOFA:Cramér’sV 0,79;95% CI 0,03-0,04; p=0,031). At discharge, the survival rate was 67% and the recovery of LVEF ocurred in 47% of P. During follow-up, there were no re-hosp, recurrence of myocarditis or deaths and 53% of P had preserved LVEF.

Conclusion
AFM is associated with high mortality rates. Percutaneous VA-ECMO is a highly effective haemodynamic support that can be used as a "bridge to recovery". Once a patient recovers, the subsequent clinical outcome seems favourable.
Atrial fibrillation: the difference in thromboembolic events prognosis
Authors: Germanova O , Galati G , Germanov AV 
Published: May 2022

Abstract

Funding Acknowledgements
Type of funding sources: None.

Aim
To identify the difference between the thromboembolic events in different types of atrial fibrillation (AF).

Materials and methods
We included 188 patients with permanent AF (of them were 99 men and 89 women). According to the data of 24-hours ECG monitoring, all patients were divided into 3 groups depending on the duration of maximum pauses between ventricular complexes in AF:
1. Patients with a pause &lt; 1 second (64 people).
2. Patients with a pause of ≥1, but &lt;2 seconds (62 people).
3. Patients with a pause ≥ 2 seconds or more (62 people).
In control group we included 80 patients without AF. All groups were identical in age, sex and comorbidities. All patients underwent transthoracic or transesophageal echocardiography (we excluded the intra-chamber thrombosis in all the patients as well as the left ventricle aneurisms), Doppler ultrasound of the brachiocephalic vessels, branches of the aorta, arteries of the lower extremities, renal arteries, lipids level. If it was indicated, we performed stress echocardiography, coronary angiography, renal artery angiography, computed tomography of brain with contrast. The patients of all groups were on the standard therapy recommended by current ESC guidelines. We were observing the patients for 1 year after the beginning of the investigation. The endpoints were at 3, 6 and 12 months after the primary visit. During these endpoints, we analyzed the development of thromboembolic complications.

Results
We analyzed the data obtained on thromboembolic complications in 1 year in patients of 1, 2, 3 groups and compared them with the control group. The most frequent incidence of complications was in group 3 compared with other groups and the control group. We believe that the risk factor for thromboembolic complications is not only the fact of permanent form of AF, but also what type of AF. The most unfavorable is AF with pauses between ventricular contractions of 2 seconds or more.

Conclusion
We consider to use the proposed functional classification of AF in clinical practice. Determination of the type of AF will largely determine the further management tactics of each patient, the prognosis of the thromboembolic complications. We supplemented the CHA2DS2-VASc score with the new independent risk factor – type of AF – in accordance to the maximum duration of pauses between cardiocycles.
Cardiac arrest in non-ST segment elevation myocardial infarction: what to expect
Authors: Carvalho P , Goncalves F , Monteiro J , Bernardo M , Carvalho C , Fontes P , Moreira I 
Published: May 2022

Abstract

Funding Acknowledgements
Type of funding sources: None.

Introduction
Ischemic heart disease is the leading cause of cardiac arrest (CA). While in ST segment elevation myocardial infarction its approach is well defined, in non-ST segment elevation myocardial infarction (NSTEMI) it is still a matter of debate. This study aimed to characterize patients with NSTEMI and out-of-hospital CA and to evaluate its prognosis.

Methods
This was a national multicenter retrospective study of patients hospitalized for NSTEMI undergoing coronary angiography (ANG) between October 2010 and September 2019.

Results
Out of a total of 9544 patients, 96 were admitted after CA. The baseline characteristics of both groups were similar, with the exception of more past history of heart failure (10,5% vs 5,6%, p=0,038) and peripheral artery disease (11,5% vs 5,9%, p=0,023) in patients with CA. In the peri-arrest period, 64,6% of the patients reported chest pain. Patients with CA had worse left ventricular ejection fraction (49±13% vs 53±12%, p=0,006), ended up reaching higher Killip classes more often and needing more inotropic and mechanical support. The median time from admission to ANG was similar in both groups (0 (0;3) vs 1 (0;2) days, p=0,796). CA patients had more multivessel coronary disease (66% vs 55,5%, p=0,043) and left main artery involvement (25,3% vs 11,2%, p&lt;0,001). The proportion of revascularization procedures was similar. During hospitalization, patients with CA were less treated with beta-blockers (77,9% vs 85,2%, p=0,046) and ACE inhibitors (77,7% vs 86,1%, p=0,018), a difference that disappeared at discharge. However, statin prescription at discharge was lower in CA patients (88,3% vs 94,4%, p=0,040).
In a multivariate analysis for events occurred during hospitalization, CA was associated with a significant increase in myocardial reinfarction (adjusted OR 5,42 (95% CI 2,10-1,98)), stroke (adjusted OR 5,38 (95% CI 1,24-2,32)) and death (adjusted OR 13,86 (95% CI 5,98-32,17)). After excluding patients with indication for an immediate invasive strategy, we verified that mortality was higher in CA patients who underwent ANG in the first 24 hours. CA was not associated with a significant increase in the 1-year mortality rate (adjusted HR 0,67 (95% CI 0,10-4,90)).

Conclusions
In this study, NSTEMI patients surviving CA had more severe coronary events. CA was independently associated with a significant increase in in-hospital major adverse events. However, during the 1-year follow-up there was no significant increase in mortality.
Prognostic impact of hyperuricemia in chronic heart failure
Authors: Carvalho P , Borges S , Monteiro J , Moz M , Fontes P , Moreira I 
Published: May 2022

Abstract

Funding Acknowledgements
Type of funding sources: None.

Introduction
Today there is numerous evidence of the importance of hyperuricemia in the progression of chronic heart failure (HF).

Purpose
To study the impact of uricemia in patients (pts) with HF with reduced ejection fraction (HFrEF) followed in a Heart Failure Clinic (HFC).

Methods
Retrospective study of consecutive patients admitted in heart failure clinic of a cardiology center from February/2018 to December/2020, with an initial left ventricular ejection fraction (LVEF) &lt; 50%; Primary outcomes were a composite of death, HF hospitalizations or emergency department admission.

Results
A total of 269 patients were selected, (mean age 71.0 ± 11.1 years; 69% males; ~40% ischemic etiology) of which 31,9% had uric acid (UA) ≥ 7 mg/dl in the first measure. These patients had more ischemic heart disease (44% vs 31,4%, p=0,048) and were mostly man (81,8 vs 63,80%, p= 0,004), but had less arterial hypertension (61,4 vs 72,8%; p=0.41). Both groups had the same incidence of diabetes mellitus (35,1 VS 34,1, p=0,868), active or previous tabagism (11,7 VS 7, p=0,456, 24,7 vs 24,9 p=0,456), dyslipidemia ( 53,2 vs 58, p=0,456), functional NYHA class ≥ 2 (93,8 VS 94,1, p=0,207) and use of allopurinol (68,8 vs 75,7%, p=0,252).
During a median follow-up of 16 months (IQR 15–51), 65 patients (24,2%) had the primary outcome.
After adjusting for ischemic heart disease, sex and use of allopurinol, uric acid levels superior to 7 mg /dl on admission is a predictor of poor outcomes in HFrER (HR 1.83, 95% CI: 1,89-3,08; p&lt;0,023).

Conclusion
Patients with uric acid levels superior or equal to 7 mg/dl on admission had a higher risk of death, HF hospitalizations or emergency department admission during follow-up in HFC. UA might be considered a HF prognostic marker.
Gender differences in elderly patients admitted to a coronary care unit
Authors: Olivares Martinez B , Garcia Del Rio M , Gomez Gonzalez A , Altarejos Salido F , Martinez Nunez R , Garcia Rubira JC 
Published: May 2022

Abstract

Funding Acknowledgements
Type of funding sources: None.

Background
Gender differences in cardiovascular diseases have been widely observed, and these affect both their management and prognosis.

Purpose
This study aims to evaluate if such differences also exist in elderly patients who were admitted at our Coronary Care Unit (CCU).

Methods
Retrospective cohort of patients older than or equal to 80 years old who were admitted to a CCU in 2018-2019. We performed a descriptive analysis by gender, comparing comorbidities, causes of admission, complications, intrahospital mortality and after discharge, as well as readmissions.

Results
148 patients ≥80 years old were admitted at our CCU. 50% were women, with similar median age (men 83.58± SD 3.65 years; women 84.45±SD 2.94) and Charlson index (6.08±SD 1.70; women 6.54±SD 1.78).
We observed a higher proportion of men with previous ischemic heart disease (46% vs. 22%, p=0.002). The rest of comorbidities were however similar, and hypertension and dyslipidemia were the most frequent ones. Concerning causes of admission at the CCU, Acute Coronary Syndrome (39% vs. 41% women) and Acute Heart Failure (18% vs. 23% women, p&gt;0.05) were the most common.
Complications were also similar between both groups (acute kidney injury and heart failure were the most common). We didn’t observe either any differences in vasoactive drugs requeriments, need of ventilatory support and interventional procedure rates. Men had a higher proportion of severe left ventricular systolic dysfunction at discharge (41% vs. 13%, p&lt;0.001), although there weren’t any differences in intrahospital mortality (22% vs. 28% in women, p&gt;0.05).
During follow-up (median 41.57 weeks, IQR 20.71-63.86) there was a tendency towards higher mortality in men (25% compared to 13%, p=0.12). Readmissions however were similar in both groups (37% in men and 30% women, p&gt;0.05).

Conclusions
We didn’t observe any significant gender differences concerning interventional procedures, complications and intrahospital mortality in patients ≥80 years old admitted at our CCU. Even though severe left ventricular systolic dysfunction at discharge was more common in men, mortality and readmissions were similar during follow-up.
Relationship of plasma ST2 level with anatomical features of coronary artery lesion in patients with NSTEMI
Authors: Maslovskyi VI , Mezhiievska IA , Ivanov VP 
Published: May 2022

Abstract

Funding Acknowledgements
Type of funding sources: None.

Objective
Relationship determining of ST2 plasma level and comparing it in patients with NSTEMI, determining of ST2 plasma level gradations.

Methods
We studied 90 patients with NSTEMI aged of 35 to 79 years (mean 60.7 ± 0.8, median - 61, interquartile range 54 and 69). Plasma ST2 level was determined and analyzed in the NSTEMI group of patients, the gradations of the stimulating growth factor level (ST2) and the correlation with the character of coronary artery lesions were highlighted. The degree of damage to the coronary arteries was determined by the SYNTAX score. All of research corresponding to the principles of the Declaration of Helsinki of the World Medical Association.

Results
Using the variational statistics method, the ST2 level gradations group were selected. Thus, the relatively low level (RL) corresponded to less than 25, and the relatively high (RH) level of ST2 to more than 75 persons in the group, respectively. For patients in the main group, these levels were &lt; 26 and &gt; 56 ng / ml, respectively. Instead, the relatively moderate (or intermediate) ST2 level (RM) for these patients was 26-56 ng/ml (Fig. 1). Analysis of the anatomical damage of the coronary arteries showed a reliable relationship of a relatively high level of ST2 with atherosclerotic lesion of the left coronary artery (LCA) trunk, while a relatively moderate level of ST2 was determined in the case of lesions of the circumlex branch (CB) of LCA (Fig. 2). The highest degree of coronary artery stenosis was determined in patients with relatively high ST2 levels, while relatively low ST2 levels were observed in the absence of hemodynamically significant stenosis (Fig. 2).

Conclusion
1. There are 3 groups of levels of stimulating growth factor in patients with NSTEMI: relatively low level (&lt;26 ng / ml), relatively moderate level (26-56 ng / ml), relatively high level (&gt; 56 ng / ml).
2. A relatively high level of ST2 was observed in the lesion of the LСA trunk, while a relatively moderate level of ST2 was determined in the case of the CB LCA lesion.
3. The level of ST2 with high probability allows to predict the severity and character of the lesion of the coronary arteries.
The impact of coronary chronic total occlusion angioplasties on left ventricular function
Authors: Costa H , Santo ME , Fernandes R , Mota T , Palmeiro H , Bispo J , Guedes J , Carvalho D , Mimoso J , Vinhas H , Jesus I 
Published: May 2022

Abstract

Funding Acknowledgements
Type of funding sources: None.

Introduction
Coronary chronic total occlusions (CTO) are relatively common findings in the context of coronary angiography. The indication for revascularization of this type of lesions remains controversial. The recommendations of international cardiology societies consider the treatment of CTO by percutaneous coronary intervention (PCI) in selected patients, but this technique is not yet widely used in this context.

Objectives
Analyze the impact of CTO PCI on left ventricular function (LVEF), measured by the recovery of LVEF (positive variation-PV). Also analyze the profile of patients with greater cardiac functional benefit.

Methods
Observational and retrospective study with descriptive and comparative analysis of patients undergoing CTO PCI, between 1 January 2019 and 31 December 2020. Descriptive analysis was carried out regarding the demographic and clinical characteristics. Chi-Square test was used for categorical variables and the T-Student test for numerical variables, with a significance level of 95%. CHIAD algorithm was applied to identify patient profiles, whose dependent variable was LVEF variation, and fixed 15 parent nodes and 5 children nodes. For statistical analysis, SPSS 24.0 was used.

Results
N177 patients were identified, with a mean age of 65.4 years (standard deviation of 11.1), 51% were female. The most frequent location of CTO was the right coronary (RCA) in 41.2%. The mean LVEF was 46.9% with standard deviation 9.9. 61.5% of patients had PV, on average rising 14% (p=0,000). The patients who benefited the most were those with LVEF &lt;49% (81.8% of PV - p = 0.000), compared to those with LVEF [49%-58%] (41.7% of PV - p=0.000) and LVEF&gt; 58% (30.8 % of PV - p=0.00). In the multivariate analysis in a logic of dependency and profiles, patients with LVEF &lt;49% (81.8% PV - p=0.000), who didn´t develop HF symptoms at 180D (85.7% PV - p=0.001) and angor at 30D (90.5% PV - p = 0.020) were those with the highest PV of LVEF.

Conclusion
This analysis highlights the experience of the angiography laboratory. In this pool, the RCA was the most affected by CTO. Most patients had LVEF recovery, rising by an average of 14%. Lower LVEF patients appear to have greater potential for left ventricular recovery. The analysis suggests that benefit were greater in patients with medium range or reduced LVEF that didn´t develop post-procedure HF symptoms and angina.