A5042811203- Congenital Heart Disease Studies
- Cardiac Arrhythmias and Treatments
- Cancer Treatment and Pharmacology
- Cardiac Structural Anomalies and Repair
- Pulmonary Hypertension Research and Treatments
- Cardiac pacing and defibrillation studies
- Cardiac electrophysiology and arrhythmias
- Cancer Immunotherapy and Biomarkers
- Cardiac Valve Diseases and Treatments
- Immune Cell Function and Interaction
- Advanced Breast Cancer Therapies
- Cardiovascular Issues in Pregnancy
- Coronary Artery Anomalies
- Chemotherapy-induced cardiotoxicity and mitigation
- Congenital heart defects research
- Ion channel regulation and function
- Cardiomyopathy and Myosin Studies
- Breast Cancer Treatment Studies
- Genomic variations and chromosomal abnormalities
- Endometrial and Cervical Cancer Treatments
- Heart Failure Treatment and Management
- Atrial Fibrillation Management and Outcomes
- PARP inhibition in cancer therapy
- Cardiovascular Function and Risk Factors
- Genomics and Rare Diseases
Université de Montréal
2016-2025
Montreal Heart Institute
2016-2025
CHU Dijon Bourgogne
2021-2023
Maison des Sciences de l’Homme de Dijon
2017-2023
Lachine Hospital
2023
Hôpital Cochin
2020
Université Paris Cité
2020
Centre Georges François Leclerc
2012-2020
Hospital for Sick Children
2019-2020
Délégation Paris 5
2020
Abstract Genetic causes of many familial arrhythmia syndromes remain elusive. In this study, whole‐exome sequencing ( WES ) was carried out on patients from three different families that presented with life‐threatening arrhythmias and high risk sudden cardiac death SCD ). Two French Canadian probands identical homozygous rare variant in TECRL gene (p.Arg196Gln), which encodes the trans ‐2,3‐enoyl‐CoA reductase‐like protein. Both had arrest, stress‐induced atrial ventricular tachycardia, QT...
Several cell-intrinsic alterations have poor prognostic features in human breast cancer, as exemplified by the absence of MAP1LC3B/LC3B (microtubule-associated protein 1 light chain 3 β)-positive puncta cytoplasm (which indicates reduced autophagic flux) or loss nuclear HMGB1 expression malignant cells. It is well established that cancer under strong immunosurveillance, reflected fact scarce infiltration lesion CD8+ cytotoxic T lymphocytes comparatively dense immunosuppressive cell types...
Abstract Sudden cardiac death (SCD) accounts for up to 25% of deaths in patients with congenital heart disease (CHD). To date, research has largely been driven by observational studies and real-world experience. Drawbacks include varying definitions, incomplete taxonomy that considers SCD as a unitary diagnosis opposed terminal event diverse causes, inconsistent outcome ascertainment, limited data granularity. Notwithstanding these constraints, identified higher-risk substrates tetralogy...
There is a paucity of data on long-term outcomes after Fontan palliation in patients with dominant morphological univentricular right (uRV) vs left (uLV) ventricle.
There is a paucity of data regarding sex-related differences on cardiac outcomes in the context transposition great arteries (TGA) with systemic right ventricle and biventricular physiology (sRV-biV). Moreover, long-term impact pregnancy remains unknown.
Th17 cells contribute to the development of some autoimmune and allergic diseases by driving tissue inflammation. However, function during cancer progression remains controversial. Here, we show that human memory CD25high suppress T cell immunity in breast cancer. Ectonucleotidase-expressing accumulated tumors suppressed CD4+ CD8+ activation. These expressed both Rorγt Foxp3 genes secreted related cytokines. We further found CD39 ectonucleotisase expression on tumor-infiltrating was driven...
Despite known clinical risk factors, predicting anthracycline cardiotoxicity remains challenging.This study sought to develop a and genetic prediction model for in childhood cancer survivors.We performed exome sequencing 289 survivors at least 3 years from exposure. In nested case-control design, 183 case patients with reduced left ventricular ejection fraction despite low-dose doxorubicin (≤250 mg/m2), 106 control preserved >250 mg/m2 were selected as extreme phenotypes. Rare/low-frequency...
Abstract Background Whole-genome sequencing (WGS) is becoming an increasingly important tool for detecting genomic variation. Blood derived DNA the current standard WGS research or clinical purposes but may not always be feasible to acquire. The usability of from saliva known. We compared quality between blood versus DNA. Methods was performed in 531 and 502 samples (including 5 paired samples) participants enrolled a heart disease biorepository. proportion reads that mapped non-human...
Rationale: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports D-TGA patients with rare variants individual genes, majority cases remain genetically elusive. Familial recurrence patterns and observation that most sporadic suggest polygenic inheritance for disorder, yet this remains unexplored. Objective: We sought to study role common single nucleotide polymorphisms (SNPs)...
TPS5630 Background: The standard treatment for advanced EC is still platinum-based combination CT, regardless of the histology, molecular status and patient’s profile. However, patients are a particularly frail group patients, often with co-morbidities. Tolerance CT can be difficult induce long-term toxicities. In disease, MMRd/MSI-H tumors represent 15 to 20 % cases. Preclinical data suggest that these more resistant platinum. On other hand, anti-PD1 immunotherapy has shown impressive...
Eribulin mesylate (EM) was recently approved for metastatic breast cancer (MBC) chemotherapy (CT) in late lines by the FDA, with debated results second line. We evaluated outcomes patients receiving EM as second, third and fourth line a national real-life cohort of 16,703 consecutive MBC initiating their first therapeutic between 2008 2014. Primary secondary objectives were overall survival (OS) progression-free (PFS). An imbalance seen HER2+ tumors concomitant anti-HER2 targeted therapies...
Background There is a paucity of data regarding late‐onset pulmonary hypertension ( PH ) in patients with transposition the great arteries and atrial switch surgery. Methods Results A retrospective cohort study was conducted on 140 adults surgery, age 37.3±7.8, 37.1% female, order to assess prevalence characteristics explore associated factors. Patients were followed for median 32.3 years after surgery 10.0 their first referral visit. detected 18 33 (54.5%) who had invasive hemodynamic...
Sudden death and aborted sudden have been observed in patients with biallelic variants TECRL. However, phenotypes only begun to be described no data are available on medical therapy after long-term follow-up.An international, multi-centre retrospective review was conducted. We report new cases associated TECRL follow-up from previously published cases. present 10 37 asymptomatic heterozygous carriers. Median age at onset of cardiac symptoms 8 years (range 1-22 years) were followed for an...
Arrhythmias and heart failure are among the most common complications encountered by adults with congenital disease (CHD). In this contemporary review, we explore interactions between arrhythmias discuss management strategies. Major knowledge gaps highlighted throughout. Interactions complex bidirectional, one begetting other. can provoke through various mechanisms: conduction disturbances may contribute to inefficient ventricular filling contraction patterns; bradyarrhythmias...
Safety and feasibility data on transvenous lead extraction (TLE) in the challenging population of adults with congenital heart disease (A-CHD) are limited. Herein, we report results TLE A-CHD during a 20-year period.All consecutive procedures were included monocentric prospective registry from 1996. A total 121 leads extracted 49 (median age, 38 years; 51% men) 71 procedures. Twenty-four (49%) patients had transposition great arteries. Main indications for infection 34 (48%) failure 22...