bluuebunny/crossref_metadata_2025_split huggingface dataset:
The use of telemedicine in cardiogenetics clinical practice during the COVID-19 pandemic
Authors: Liang L , Kalia I , Latif F , Waase M P , Sayer G , Reilly M P , Uriel N 
Published: October 2021

Abstract

Background
The coronavirus disease 2019 (COVID-19) pandemic has necessitated the widespread adoption of telemedicine, and while many clinics have now re-established in-person patient visits, telemedicine is likely to continue to play an important role in health care delivery. In particular, the embrace of telemedicine presents an unprecedented opportunity through which to expand the reach of genetic counseling, i.e., telegenetics.

Purpose
The aim of this study was to examine the impact of COVID-19 on genetic counseling practices within the cardiogenetics clinics at a large academic center in New York City.

Methods
We retrospectively analyzed clinical characteristics of patients who were seen for cardiovascular genetic counseling visits pre-pandemic between April 1, 2019 through December 23, 2019 and during the pandemic between April 1, 2020 through December 23, 2020 at Columbia University Irving Medical Center. Genetic testing results were recorded for each encounter when available.

Results
Overall, 104 patients had a cardiovascular genetic counseling visit in 2019 compared to 132 patients in 2020 (Table). Only 6% (n=6) of visits in 2019 were remote telemedicine encounters whereas 80% (n=106) of visits in 2020 were telemedicine encounters. There was a significant increase in the number of family members seen for genetic counseling in 2020; in 2019 only 15% (n=16) of the patients seen for genetic counseling were family members of probands whereas this percentage increased to 34% in 2020 (n=45; p=0.002). In addition, in 2020 the geographic reach of genetic counseling extended far beyond New York state, reaching a total of 11 states as well as one patient in Puerto Rico (Figure). Genetic testing results were similar between the two years with 29% of patients found to be genotype positive in 2019 and 29% of patients genotype positive in 2020 (p=0.91). Notably, of those patients who underwent telemedicine visits and were sent genetic testing kits (n=106), 14% (n=15) did not return a sample.

Conclusions
In this study we found that despite the health care delivery barriers created by the COVID-19 pandemic, the use of telemedicine allowed us to not only continue seeing patients for cardiovascular genetic counseling visits but also to expand the reach of genetic counseling and testing beyond the geographical boundaries of our previous catchment area. Telegenetics offers patients and clinicians convenience and flexibility and has likely earned its permanent place in clinical practice. Future efforts are warranted to study the longer-term clinical impacts of telegenetics as well as to continue to improve telemedicine technology, with the ultimate aim of increasing patient access to personalized genomic medicine.

Funding Acknowledgement
Type of funding sources: None.
Patients' perspectives on iatrogenic risk and therapeutic adherence of their cardiovascular therapies: a real-life survey
Authors: Mourad J J , Chekroun M , Pellet A F , Pecout C 
Published: October 2021

Abstract

Background
Cardiovascular disease, one of the main Non-Communicable Disease (NCD), is the first cause of death in the world representing 30% of global mortality. Their prevention, early detection, reduction of risk and progression are major daily challenges. Success depends on patient adherence which is the most enigmatic and difficult challenge for the physician to assess. Our objective was to better understand Patients' Experience, including their behavior and knowledge of the risks and benefits of their treatment, as well as their perception of therapeutic adherence and iatrogenic risk.

Purpose
This real-world study conducted on patients affected by cardiovascular diseases, identified their views on iatrogenic risk and compliance with their condition and treatment intake.

Method
An online survey was conducted on the Carenity platform among adult patients affected by cardiovascular disease (CV) between February 14th and May 15th, 2020. A multiple correspondence analysis (MCA) was performed on a dataset of French patients with CV disease using a hierarchical cluster analysis.

Results
403 patients (women 54%) mean age 60,6 YO with High Blood Pressure (56,6%), diabetes (28,3%), heart attack (26%), hypercholesterolemia (22%), arrythmia (19,6%), stroke (14%). Mean number of medications per day was 5,1 and 6,1 of pills. 3 groups of patients were identified as per MCA.
The group 1 “at risk” (n=168) concerns the least compliant patients, mostly women. They visit more often their doctor (83%), whom they are afraid to disappoint. 46% deliberately deviate from initial prescription even if they feel compliant (73%). They consider they are less likely to have received explanation on treatment benefits (73%). They seem to be more worried about incompatibility with daily life (33%) and frequency of administration (40%). 34% are more likely to be afraid of becoming dependent and 49% lacking efficacy. 76% discuss about constraints and risks with someone. The group 2 “tolerant” (n=90) includes patients less aware with interactions with other treatments (73%) and with alcohol (64%). They do not think it is necessary to inform their doctor about compliance issues (76%).
The group 3 “reporters” (n=145) concerns patients, mostly men, who feel more compliant (90%) than others. They feel informed (84%), they use practical solutions to be compliant (63%) and they are aware of treatment interactions such as tobacco (37%).

Conclusion
These results from the Patient Experience, suggest new patient behaviors and profiles. They focus on coping mechanisms and solutions they develop to manage their relationship with treatment. These identified profiles should be included in the Therapeutic Patient Education approach. The objective is to improve overall management by increasing compliance and reducing the iatrogenesis risk.

Funding Acknowledgement
Type of funding sources: Private company. Main funding source(s): Pfizer PFE France, a Viatris company
Racial/ethnic differences in cardiovascular outcomes in a universal healthcare system: insights from the CARTaGENE cohort
Authors: D'Entremont M , Couture E L , Nguyen M , Ni J , Yan A , Ko D , Abhinav S , Goodman S , Huynh T 
Published: October 2021

Abstract

Background
While prior studies have shown racial/ethnic differences in cardiovascular (CV) outcomes within private or mixed health care systems, it remains uncertain whether inequalities in cardiovascular outcomes exist between different races and ethnicities in universal health care contexts. We aimed to determine whether there are racial/ethnicity disparities in long-term CV outcomes within a single-payer universal health care system.

Methods
The CARTaGENE study is a population-based prospective cohort study with enrollment of 19,996 individuals between 40–69 years in 2009, in the province of Quebec, Canada. Participants residing in four large metropolitan areas were randomly chosen from the provincial health insurance registry by strata of age, sex, and postal codes. Follow-up was available up to 2016. For this analysis, we retained only participants without prior known CV disease. The primary composite endpoint was time to the first CV event or intervention (CV death, acute coronary syndrome, heart failure, coronary revascularization, ischemic stroke, or peripheral vascular event or revascularization). We used unadjusted and adjusted Cox proportional hazard models to evaluate the association of self-defined race/ethnicity with the primary endpoint.

Results
There were 17,802 eligible participants with a mean age of 51 years (52.5% females) with 111,312 person-years of follow-up (median follow-up of 6.6 years). South Asian (SA) participants had the highest prevalence of diabetes mellitus (29%) and hypertension (32%). After adjustment for age and sex, SA ethnicity was associated with a 95% relative increase in risk for CV events, while East/Southeast Asian (ESA) ethnicity was associated with a 42% relative decrease in risk for CV events compared to White participants. After further adjustment for socioeconomic status and CV risk factors, ESA ethnicity remained associated with a similar decreased CV risk. In contrast, the association of SA ethnicity with increased CV risk was attenuated after full adjustment for baseline characteristics (Table 1).

Conclusions
Racial/ethnic disparities in long-term CV outcomes are present in a single-payer universal healthcare setting. ESA ethnicity was associated with a lower risk of long-term CV outcomes. Future studies are needed to corroborate the reduced risk of long-term major CV events associated with ESA ethnicity. Understanding the reasons related to potential CV protection with ESA ethnicity could facilitate endeavors to reduce long-term CV outcomes in other races/ethnicities.

Funding Acknowledgement
Type of funding sources: Public hospital(s). Main funding source(s): McGill Health University Center
The impact of clinical skills training on hospital nursing care towards acquisition of improved care quality: a systematised review
Authors: Calmita H J C , Boag B R 
Published: October 2021

Abstract

Aim
The study aim is to review the literature regarding the impact of clinical skills training on the quality of care delivery in the hospital setting.

Objectives

Design
A systematised review which summarises the multiple studies retrieved utilising systematic manner of searching. Mixed studies of the qualitative and quantitative study were compiled and analysed using a combined qualitative analysis and qualitative narrative synthesis.

Data sources
Six databases were searched. Academic Search Premier, CINAHL, Cochrane Library, Pubmed, ScienceDirect, and Wiley Online Library. Key journals were hand searched from the university library, reference tracking was done, and grey literature was checked. Lastly, the professional support of the department librarian was sought during the initial stage of the finding of evidence.

Results
From a total of 1,023 articles that were initially found, a total of ten studies were included for the review. It included two quasi-experimental studies, five qualitative methods, and three observational studies (2 cross-sectional and 1 cohort), that evaluated the impact of clinical skills training to nursing practice or care quality, or both. All articles were then critically appraised using the appraisal tool developed by Long and Godfrey (2004).

Conclusions
Continuing staff development is seen as beneficial in order to adapt to the rapid changes in healthcare delivery services. Developing an educational assessment tool addressed towards the evaluation of clinical based teaching should be given fundamental focus as it can define and evaluate the impact of knowledge transfer upon completion of a training course. Further research that addresses the impact of nursing training to clinical practice, specifically addressed to the low-income health care organisations is recommended.

Funding Acknowledgement
Type of funding sources: None.
Is HNF4A gene, a risk factor or protection against coronary artery disease?
Authors: Temtem M , Serrao M , Mendonca M I , Santos M , Sousa A , Mendonca F , Sousa A C , Henriques E , Freitas S , Rodrigues M , Borges S , Guerra G , Drumond A , Palma Dos Reis R ,   GENEMACOR study
Published: October 2021

Abstract

Background
Hepatocyte nuclear factor4 A (HNF4A) gene was considered by GWAS associated with atherosclerosis and CAD susceptibility. Loss-of-function mutations in human hepatocyte nuclear factor 4α (HNF4α), a transcriptor factor encoded by the HNF4A gene, are associated with maturity-onset diabetes of the young and lipid disorders. However, the mechanisms underlying the lipid disorders are poorly understood.

Aim
We propose identifying the genetic predisposition to atherosclerosis progression and events occurrence or regression and better prognosis, through a cohort study from GENEMACOR population.

Methods
We investigated a cohort of 1,712 patients who underwent coronary angiography with more than 70% stenosis of at least one main coronary vessel. 33 SNPs associated with the risk of CAD in previous GWAS were genotyped by TaqMan assays methodology. We evaluated the best genetic model associated with CAD prognosis (events) with a 95% CI in bivariate analysis. The hazard function was performed by a Cox survival regression model adjusted for age, sex, type 2 diabetes, hypertension, and hypercholesterolemia, to evaluate their relationship with the event's incidence. Finally, we constructed Kaplan–Meier cumulative-event curves for the significant genetic variants.

Results
Our evaluation revealed a SNP paradoxically associated with protection from atherosclerosis progression and events occurrence: rs1884613 C&gt;G in the HNF4A gene on chromosome 20 dominant model [OR=0.653; 95% CI (0.522–0.817); p=0.0002]. Cox survival regression model showed a CAD protective effect of HNF4A with a Hazard ratio (HR) of 0.771; p=0.007. The Kaplan-Meier cumulative event analysis disclosed that the CG+GG vs CC genotype of rs1884613 HNF4α was associated with a better prognosis (Breslow test, p=0.004) at the end of the follow-up.

Conclusion
We identified, in this study, one SNPs paradoxically associated with a better CAD prognosis rs1884613 in HNF4A. The HNF4A gene variants could induce loss of HNF4α function, modifying and modulating hepatic lipase and lipid metabolism conferring a beneficial effect on atherosclerosis progression and events occurrence.

Funding Acknowledgement
Type of funding sources: None.
Expression and roles of N-type Ca channel in cardiaomyocytes
Authors: Kobara M , Toba H , Nakata T 
Published: October 2021

Abstract

Background
Voltage dependent Ca channels are divided to L-, T-, N-, P/Q-, and R-types, and N-type Ca channel (NCC) is mainly expressed in nerve terminal and regulates neurotransmitter release. Recently, NCC has been reported to express in adrenal gland and renal tubular cells. We examined whether NCC is expressed in cardiac myocytes and if so, the roles of this channel.

Methods
Expression of NCC mRNA and protein in cardiomyocytes were assessed by quantitative real time PCR and Western blot analysis using neonatal rat cultured cardiomyocytes, infant, and adult rat hearts. Expression site of NCC in cardiomyocytes was examined by confocal imaging of immunofluorescent staining. The roles of NCC in physiological Ca transient in neonatal myocytes were examined using fluorescence imaging of Fluo4, an intracellular Ca indicator. To examine the effects of pathological condition, such as heart failure and ischemia-reperfusion, on NCC expression, cultured cardiomyocytes were treated with norepinephrine (10 μmol/L, 24 hours) or subjected to 5 hours of hypoxia followed by 30 minutes of reoxygenation. In addition, adult rats were subjected to myocardial infarction by ligating the left anterior coronary artery. Lethal myocyte injury was examined by LDH activity in culture medium and myocyte apoptosis was examined by nuclear staining with DAPI and caspase 3 activity. To clarify the roles of NCC in neonatal myocytes in these pathological conditions, we examine the effect of ω-conotoxin, a selective NCC blocker.

Results
NCC mRNA and protein were expressed in neonatal cardiomyocytes. Immunocytochemical staining showed NCC was expressed in myocyte plasma membrane. During physiological spontaneous beating, ω-conotoxin did not affect beating rate and intra cellular Ca transient, suggesting that the roles of NCC on physiological beating are little. After birth level of NCC mRNA expression in cardiac tissue gradually decreased within 2 weeks and low level of mRNA expressed continuously in adult cardiac tissue. However, in pathological condition, mRNA and protein levels of NCC in non-infarcted region were increased 4 weeks after myocardial infarction. In addition, hypoxia-reoxygenation and norepinephrine administration increased LDH release and myocyte apoptosis in association with increase in NCC expression in neonatal cultured myocytes. ω-conotoxin significantly suppressed hypoxia/reoxygenation- and norepinephrine-induced LDH release and caspase 3 activation.

Conclusion
NCC is expressed in neonatal cardiac myocytes and the expression level was decreased after birth. Pathological condition, such as ischemic heart disease and heart failure, upregulated NCC expression in cardiomyocytes and NCC exacerbated lethal myocyte injury, while roles of NCC in physiological beating are little.

Funding Acknowledgement
Type of funding sources: None.
Adipose-targeted overexpression of mitochondrial-targeted catalase does not improve cardio-metabolic parameters in mice with diet-induced obesity
Authors: Croft A J , Kelly C , Chen D , Murtha L , Sugito S , Boyle A , Sverdlov A L , Ngo D T M 
Published: October 2021

Abstract

Background
Obesity is associated with significant cardio-metabolic complications. Adipokines, and cytokines released from adipose tissue (AT) stimulate excessive mitochondrial production of reactive oxygen species (ROS). ROS-mediated oxidative modifications is associated with development of insulin resistance and impaired cardiac function. We hypothesised that adipose-targeted overexpression of mitochondrial-targeted catalase (AT-mCAT) could lead to improvement in diet-induced cardio-metabolic dysfunction.

Methods/Results
mCAT (floxed) and AdipoQ-Cre mice were crossed to generate mice overexpressing catalase with a mitochondrial-targeting sequence predominantly in AT (AT-mCAT). Wild-type (WT) and AT-mCAT male mice were fed normal chow (NC) or high-fat/high-sucrose (HFHS) diet (36%fat/34%sucrose) for 4 months. At endpoint, echocardiography showed reduced cardiac output in all groups v WT NC (p&lt;0.05); reduced IVSd in AT-mCAT NC and HFHS groups v WT NC (p&lt;0.01); reduced left ventricular ejection fraction in AT-mCAT HFHS v WT NC (p&lt;0.05) and no differences in fractional shortening or E/A ratio between groups. Glucose tolerance tests (2g/kg) showed impairment in WT HFHS and AT-mCAT HFHS v WT NC (p&lt;0.01, p&lt;0.05 respectively). Triglyceride levels were increased in WT HFHS and AT-mCAT HFHS v WT NC (p&lt;0.05). Analysis of hypertrophic signalling in cardiac tissues by ELISA showed p-AKT/total Akt levels were decreased in AT-mCAT hearts regardless of diet (WT NC v AT-mCAT NC p&lt;0.01; WT HFHS v AT-mCAT HFHS p&lt;0.05).

Conclusion
Our results confirm previous findings that diet-induced obesity is a systemic condition. Targeting adipose tissue with mitochondrial catalase may not be adequate to prevent development of cardio-metabolic dysfunction. More systemic approaches may be required to combat obesity-induced cardio-metabolic impairment.

Funding Acknowledgement
Type of funding sources: Public grant(s) – National budget only. Main funding source(s): National Heart Foundation of Australia
Formation of human cardiomyocytes is impaired in a fibrotic environment: unravelling human cardiac regeneration
Authors: Ramkisoensing A A , Zhang J , Harlaar N , Pijnappels D A , De Vries A A F 
Published: October 2021

Abstract

Loss of myocardial tissue remains a leading cause of disease and death, as the adult heart has insufficient regenerative potential. The (pre-)clinical effects of inducing cardiac regeneration by cardiac cell therapy have been disappointing. This lack of success may result from the fact that it remains largely unclear how the receiving pathological microenvironment affects this process of cardiomyogenic differentiation of implanted cells, and thereby may (negatively) influence the therapeutic outcome. However, the tools to address this lacuna in a proper manner are lacking, as this requires tightly controllable and quantitative models of cardiomyogenic differentiation. Therefore, we have recently generated lines of conditionally immortalized human CMCs (ciCMCs) through doxycycline-dependent expression of SV40 large T antigen after genetic modification and subsequent clonal expansion. In these cells, proliferation and differentiation can be tightly controlled, allowing cardiomyogenic differentiation to be i) induced on cue, ii) precisely monitored and quantified, and iii) manipulated. The aim of this study is to improve our understanding of cardiomyogenic differentiation of guest (transplanted) cells in the context of the host (receiving) microenvironment. To create pathological microenvironments and study the effects on cardiac differentiation, co-culture experiments with human ciCMCs and cardiac fibroblasts were conducted in different ratios (10%, 30%, 60% and 90% ciCMCs). Cardiomyogenic differentiation was determined by immunostaining for cardiac specific markers and electrophysiological analysis by optical voltage mapping. After 12 days of co-culture with cardiac fibroblasts, the amount of ciCMCs that expressed the sarcomeric protein cardiac troponin T was significantly and increasingly reduced (P&lt;0.01) in the groups with higher amounts of cardiac fibroblasts (39.4±3.9, 33±3.4, 25±1.9, 20.3±2.6, 5±1.7 for 100%, 90%, 60%, 30% and 10% ciCMCs respectively (%, mean±SD). Electrophysiological analysis showed a significantly reduced (P&lt;0.01) conduction velocity in the co-cultures compared to the pure cultures of ciCMCs (19.1±2.1 vs 16.0±0.5, 15.8±0.9, 8.6±0.6, 5±1.67 for 100% vs 90%, 60%, 30% and 10% ciCMCs respectively (cm/s, mean±SD). However, no significant difference in conduction velocity was present between the groups with 10% and 30% ciCMCs and 30% and 60% ciCMCs present. In conclusion, a fibrotic environment has a negative effect on the formation of human cardiomyocytes as revealed by the use of ciCMCs. This not only emphasizes the need to consider the interaction between the guest (transplanted) cells and the host (receiving) microenvironment in cardiac regenerative medicine, but also offers new leads to increase the therapeutic potential of this strategy.

Funding Acknowledgement
Type of funding sources: Foundation. Main funding source(s): Leiden University Fund