5 results on '"Poinsot, J."'
Search Results
2. Volatile organic compounds cytotoxicity and expression of HSP72, HSP90 and GRP78 stress proteins in cultured human cells
- Author
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Croute, F, primary, Poinsot, J, additional, Gaubin, Y, additional, Beau, B, additional, Simon, V, additional, Murat, J.C, additional, and Soleilhavoup, J.P, additional
- Published
- 2002
- Full Text
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3. Novel CALM3 Variant Causing Calmodulinopathy With Variable Expressivity in a 4-Generation Family.
- Author
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Kato K, Isbell HM, Fressart V, Denjoy I, Debbiche A, Itoh H, Poinsot J, George AL Jr, Coulombe A, Shea MA, and Guicheney P
- Subjects
- Calmodulin metabolism, Humans, Mutation, Myocytes, Cardiac metabolism, Phenotype, Calmodulin genetics, Long QT Syndrome diagnosis, Long QT Syndrome genetics, Tachycardia, Ventricular etiology
- Abstract
Background: CaM (calmodulin), encoded by 3 separate genes ( CALM1 , CALM2 , and CALM3 ), is a multifunctional Ca
2+ -binding protein involved in many signal transduction events including ion channel regulation. CaM variants may present with early-onset long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia, or sudden cardiac death. Most reported variants occurred de novo. We identified a novel CALM3 variant, p.Asn138Lys (N138K), in a 4-generation family segregating with LQTS. The aim of this study was to elucidate its pathogenicity and to compare it with that of p.D130G-CaM-a variant associated with a severe LQTS phenotype., Methods: We performed whole exome sequencing for a large, 4-generation family affected by LQTS. To assess the effect of the detected CALM3 variant, the intrinsic Ca2+ -binding affinity was measured by stoichiometric Ca2+ titrations and equilibrium titrations. L-type Ca2+ and slow delayed rectifier potassium currents (ICaL and IKs ) were recorded by whole-cell patch-clamp. Cav1.2 and Kv7.1 membrane expression were determined by optical fluorescence assays., Results: We identified 14 p.N138K-CaM carriers in a family where 2 sudden deaths occurred in children. Several members were only mildly affected compared with CaM-LQTS patients to date described in literature. The intrinsic Ca2+ -binding affinity of the CaM C-terminal domain was 10-fold lower for p.N138K-CaM compared with wild-type-CaM. ICaL inactivation was slowed in cells expressing p.N138K-CaM but less than in p.D130G-CaM cells. Unexpectedly, a larger IKs current density was observed in cells expressing p.N138K-CaM, but not for p.D130G-CaM, compared with wild-type-CaM., Conclusions: The p.N138K CALM3 variant impairs Ca2+ -binding affinity of CaM and ICaL inactivation but potentiates IKs . The variably expressed phenotype of this variant compared with previously published de novo LQTS-CaM variants is likely explained by a milder impairment of ICaL inactivation combined with IKs augmentation.- Published
- 2022
- Full Text
- View/download PDF
4. Long-term evolution of stents implanted in branch pulmonary arteries.
- Author
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Ma I, El Arid JM, Neville P, Soule N, Dion F, Poinsot J, Chantepie A, and Lefort B
- Subjects
- Child, Preschool, Endovascular Procedures adverse effects, Female, Humans, Male, Prosthesis Design, Pulmonary Artery diagnostic imaging, Pulmonary Artery growth & development, Pulmonary Circulation, Retrospective Studies, Stenosis, Pulmonary Artery diagnostic imaging, Stenosis, Pulmonary Artery physiopathology, Time Factors, Treatment Outcome, Vascular Patency, Vascular Surgical Procedures adverse effects, Endovascular Procedures instrumentation, Pulmonary Artery surgery, Stenosis, Pulmonary Artery therapy, Stents, Vascular Surgical Procedures instrumentation
- Abstract
Background: Branch pulmonary artery stenosis complicates the management of congenital heart diseases. Surgical branch pulmonary artery angioplasty is associated with a high reintervention rate. As an alternative, percutaneous or intraoperative branch pulmonary artery stents have been implanted to improve efficiency, but long-term evaluations are limited., Aim: To describe the long-term evolution of branch pulmonary artery stents., Methods: We conducted a retrospective cohort study at Tours University Hospital. All stents implanted by surgery or catheterization in branch pulmonary arteries with a minimum follow-up of 12 months and at least one catheterization control were included. The primary endpoint combined cardiovascular mortality, surgical or percutaneous reintervention for stent complication or new stent implantation., Results: Between 2007 and 2017, 76 stents in 51 patients were included (62 stents implanted by surgery, 14 by catheterization). At implantation, the patients' mean age and weight were 4.7years (interquartile range 4.2years) and 17.3kg (interquartile range 11.0kg), respectively. Mean branch pulmonary artery minimum diameter was 4.1±2.1mm (mean Z-score-4.9±2.9), and mean initial stent diameter was 9.1±3.1mm. During a follow-up of 5.3years (range 0-11.2 years), freedom from primary endpoint was 86.8% (95% confidence interval 79.6-94.8%) at 1 year, 71.5% (95% confidence interval 61.9-82.7%) at 5years and 69.6% (95% confidence interval 59.6-81.2%) at 10 years. We did not identify any factors associated with major adverse cardiovascular events. Among stents without major adverse cardiovascular events, the mean branch pulmonary artery diameter Z-score at last evaluation had increased by +4.8±3.2 compared with the initial diameter (P<0.001). After stent implantation, a median of 2 re-expansions were performed for each stent (range 0-7)., Conclusions: Stent implantation should offer a good long-term solution for branch pulmonary artery stenosis, although iterative re-expansions are required., (Copyright © 2020 Elsevier Masson SAS. All rights reserved.)
- Published
- 2021
- Full Text
- View/download PDF
5. Auscultation While Standing: A Basic and Reliable Method to Rule Out a Pathologic Heart Murmur in Children.
- Author
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Lefort B, Cheyssac E, Soulé N, Poinsot J, Vaillant MC, Nassimi A, and Chantepie A
- Subjects
- Adolescent, Child, Child, Preschool, Diagnosis, Differential, Female, Humans, Male, Prospective Studies, Referral and Consultation statistics & numerical data, Sensitivity and Specificity, Unnecessary Procedures, Auscultation methods, Heart Murmurs diagnosis, Posture
- Abstract
Purpose: The distinction between physiologic (innocent) and pathologic (organic) heart murmurs is not always easy in routine practice, leading too often to unnecessary cardiology referrals and expensive investigations. We aimed to test the hypothesis that the complete disappearance of murmur on standing can exclude cardiac disease in children., Methods: From January 2014 to January 2015, we prospectively included 194 consecutive children aged 2 to 18 years who were referred for heart murmur evaluation to pediatric cardiologists at 2 French medical centers. Heart murmur characteristics while supine and then while standing were recorded, and an echo-cardiogram was performed., Results: Overall, 30 (15%) of the 194 children had a pathologic heart murmur as determined by an abnormal echocardiogram. Among the 100 children (51%) who had a murmur that was present while they were supine but completely disappeared when they stood up, only 2 had a pathologic murmur, and just 1 of them needed further evaluation. Complete disappearance of the heart murmur on standing therefore excluded a pathologic murmur with a high positive predictive value of 98% and specificity of 93%, albeit with a lower sensitivity of 60%., Conclusions: Disappearance of a heart murmur on standing is a reliable clinical tool for ruling out pathologic heart murmurs in children aged 2 years and older. This basic clinical assessment would avoid many unnecessary referrals to cardiologists., Competing Interests: Conflicts of interest: authors report none., (© 2017 Annals of Family Medicine, Inc.)
- Published
- 2017
- Full Text
- View/download PDF
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