Whole-exome sequencing in individuals with multiple cardiovascular risk factors and normal coronary arteries

2016 ◽  
Vol 27 (4) ◽  
pp. 257-266 ◽  
Author(s):  
Yigal Abramowitz ◽  
Arie Roth ◽  
Gad Keren ◽  
Ofer Isakov ◽  
Noam Shomron ◽  
...  
2017 ◽  
Vol 24 (5) ◽  
pp. 580-586 ◽  
Author(s):  
Daniel O. Bittner ◽  
Lutz Klinghammer ◽  
Mohamed Marwan ◽  
Jasmin Schmid ◽  
Christian Layritz ◽  
...  

Oncotarget ◽  
2017 ◽  
Vol 8 (27) ◽  
pp. 43752-43767 ◽  
Author(s):  
Rachid Abaji ◽  
Vincent Gagné ◽  
Chang Jiang Xu ◽  
Jean-François Spinella ◽  
Francesco Ceppi ◽  
...  

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Alexandru Burlacu ◽  
Grigore Tinica ◽  
Bogdan Artene ◽  
Paul Simion ◽  
Diana Savuc ◽  
...  

Background. Inappropriate cardiac catheterization lab activation together with false-positive angiographies and no-culprit found coronary interventions are now reported as costly to the medical system, influencing STEMI process efficiency. We aimed to analyze data from a high-volume interventional centre (>1000 primary PCIs/year) exploring etiologies and reporting characteristics from all “blank” coronary angiographies in STEMI. Methods. In this retrospective observational single-centre cohort study, we reported two-year data from a primary PCI registry (2035 patients). “Angio-only” cases were assigned to one of these categories: (a) Takotsubo syndrome; (b) coronary embolisation; (c) myocardial infarction with nonobstructive coronary arteries; (d) myocarditis; (e) CABG-referred; (f) normal coronary arteries (mostly diagnostic errors); and (g)others (refusals and death prior angioplasty). Univariate analysis assessed correlations between each category and cardiovascular risk factors. Results. 412 STEMI patients received coronary angiography “only,” accounting for 20.2% of cath lab activations. Barely 77 patients had diagnostic errors (3.8% from all patients) implying false-activations. 40% of “angio-only” patients (n = 165) were referred to surgery due to severe atherosclerosis or mechanical complications. Patients with diagnostic errors and normal arteries displayed strong correlations with all cardiovascular risk factors. Probably, numerous risk factors “convinced” emergency department staff to call for an angio. Conclusions. STEMI network professionals often confront with coronary angiography “only” situations. We propose a classification according to etiologies. Next, STEMI guidelines should include audit recommendations and specific thresholds regarding “angio-only” patients, with specific focus on MINOCA, CABG referrals, and diagnostic errors. These measures will have a double impact: a better management of the patient, and a clearer perception about the usefulness of the investments.


2009 ◽  
Vol 2 (5) ◽  
pp. 629-636 ◽  
Author(s):  
Héctor M. García-García ◽  
Patrick W. Serruys ◽  
Gary S. Mintz ◽  
Satoshi Saito ◽  
Volker Klaus ◽  
...  

2020 ◽  
Vol 19 ◽  
pp. 153303382091108
Author(s):  
Lubomir Balabanski ◽  
Dimitar Serbezov ◽  
Dragomira Nikolova ◽  
Olga Antonova ◽  
Desislava Nesheva ◽  
...  

Objectives: The aim of the present study was to evaluate the clinical relevance of mutations in tumor suppressor genes using whole-exome sequencing data from centenarians and young healthy individuals. Methods: Two pools, one of centenarians and one of young individuals, were constructed and whole-exome sequencing was performed. We examined the whole-exome sequencing data of Bulgarian individuals for carriership of tumor suppressor gene variants. Results: Of all variants annotated in both pools, 5080 (0.06%) are variants in tumor suppressor genes but only 46 show significant difference in allele frequencies between the two studied groups. Four variants (0.004%) are pathogenic/risk factors according to single nucleotide polymorphism database: rs1566734 in PTPRJ, rs861539 in XRCC3, rs203462 in AKAP10, and rs486907 in RNASEL. Discussion: Based on their high minor allele frequencies and presence in the centenarian group, we could reclassify them from pathogenic/risk factors to benign. Our study shows that centenarian exomes can be used for re-evaluating the clinically uncertain variants.


2019 ◽  
Vol 29 ◽  
pp. S934-S935
Author(s):  
Alessandro Serretti ◽  
Chiara Fabbri ◽  
Diego Albani ◽  
Siegfried Kasper ◽  
Joseph Zohar ◽  
...  

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Thomas Husson ◽  
◽  
Jean-Baptiste Duboc ◽  
Olivier Quenez ◽  
Camille Charbonnier ◽  
...  

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