Cardiopathie congénitale

Les cardiopathies congénitales sont des malformations du cœur survenant au cours de sa formation, pendant la vie intra-utérine. Le terme « congénital » (littéralement « né avec ») est à distinguer du qualificatif « héréditaire » (« ce dont on hérite », ce qui est transmis par les ascendants). Une malformation congénitale, en particulier cardiaque, n'est pas obligatoirement héréditaire et peut correspondre à un accident isolé et qui ne se reproduira pas. Elles sont extrêmement diverses, allant de la simple anomalie bénigne permettant la croissance de l'enfant sans aucun problème, jusqu'à la malformation grave, incompatible avec la survie du nouveau-né. Elles sont également de complexités diverses, rendant une évaluation obligatoire en milieu spécialisé. Certaines sont notamment à l'origine des « enfants bleus », c'est-à-dire qui présentent une cyanose à la naissance. Jusqu'à quatorze fœtus sur mille sont porteurs d’une malformation cardiaque, faisant de ces dernières les malformation

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This lecture will cover anatomy and physiology of the cardiovascular system, biophysics of the blood, cardiac mechanics, hemodynamics and biomechanics of the arterial system, microcirculation and biomechanics of the venous system.

Introduction to the application of the notions and methods of theoretical physics to problems in biology.

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An extracellular matrix protein microarray to study endothelial to mesenchymal transformation in mitral valve endothelial cells

Blaise Calpe

In the developing heart, a subset of endothelial cells (ECs) undergo a process of endothelial to mesenchymal transformation (EMT) that leads to the remodeling of the cardiac cushions and the formation of the cardiac valves. Understanding how microenvironmental cues regulate EMT has important implication for the treatment of congenital heart valve diseases and for heart valve tissue engineering. Here a set of extracellular matrix (ECM) proteins and growth factors (GF) were tested to determine the extent of regulation of EMT in adult ovine mitral valve endothelial cells (MVECs). Traditional cell culture dishes present limitations on large scale screening of cells-microenvironments interactions. To address this problem, a high throughput cellular microarray platform was developed. Using a contact printer, 84 different combinations of ECM proteins and GF were microarrayed on a modified glass slide. The slides were seeded with MVECs and immunostained against EMT maker alpha smooth muscle actin ([alpha]-SMA). Fluorescence images of each spot of the microarray were taken with a microscope equipped with an automated stage. These images were analyzed with a custom image processing routine developed with CellProfiler to assess the percentage of cells expressing [alpha]-SMA on each ECM combination.

2011

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Efficient transdifferentiation of human dermal fibroblasts into skeletal muscle

Noaf Salah Ali Alwahab

Skeletal muscle holds significant regenerative potential but is incapable of restoring tissue loss caused by severe injury, congenital defects or tumour ablation. Consequently, skeletal muscle models are being developed to study human pathophysiology and regeneration. Their physiological accuracy, however, is hampered by the lack of an easily accessible human cell source that is readily expandable and capable of efficient differentiation. MYOD1, a master gene regulator, induces transdifferentiation of a variety of cell types into skeletal muscle, although inefficiently in human cells. Here we used MYOD1 to establish its capacity to induce skeletal muscle transdifferentiation of human dermal fibroblasts under baseline conditions. We found significant transdifferentiation improvement via transforming growth factor-/activin signalling inhibition, canonical WNT signalling activation, receptor tyrosine kinase binding and collagen type I utilization. Mechanistically, manipulation of individual signalling pathways modulated the transdifferentiation process via myoblast proliferation, lowering the transdifferentiation threshold and inducing cell fusion. Overall, we used transdifferentiation to achieve the robust derivation of human skeletal myotubes and have described the signalling pathways and mechanisms regulating this process. Copyright (c) 2017 John Wiley & Sons, Ltd.

WILEY2018

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Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Vincent Meyer

Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in similar to 260 genes. Albeit that many genes are implicated in IRD, for 30-50% of the cases, the gene defect is unknown. These cases may be explained by novel gene defects, by overlooked structural variants, by variants in intronic, promoter or more distant regulatory regions, and represent synonymous variants of known genes contributing to the dysfunction of the respective proteins. Patients with one subgroup of IRD, namely incomplete congenital stationary night blindness (icCSNB), show a very specific phenotype. The major cause of this condition is the presence of a hemizygous pathogenic variant in CACNA1F. A comprehensive study applying direct Sanger sequencing of the gene-coding regions, exome and genome sequencing applied to a large cohort of patients with a clinical diagnosis of icCSNB revealed indeed that seven of the 189 CACNA1F-related cases have intronic and synonymous disease-causing variants leading to missplicing as validated by minigene approaches. These findings highlight that gene-locus sequencing may be a very efficient method in detecting disease-causing variants in clinically well-characterized patients with a diagnosis of IRD, like icCSNB.

WILEY2019

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Maladie congénitale

Une maladie congénitale (aussi dite anomalie congénitale) est une maladie, avec ou sans malformation apparue in utero et souvent détectée à la naissance ou plus tard dans la vie (littéralement : « e

Cardiologie

La cardiologie (du grec , « cœur » et , « parole, discours, sujet d'entretien ») est une branche de la médecine qui traite des troubles du cœur ainsi que de certaines parties du système circulatoir

Système circulatoire

400px|vignette|Schéma du système circulatoire humain. En biologie, un est un système d'organes en circuit permettant le déplacement de fluides dans un organisme. Le système circulatoire a pour rôle

Introduction to the application of the notions and methods of theoretical physics to problems in biology.