Les anomalies vasculaires sont des affections hétérogènes qui touchent les vaisseaux sanguins ou lymphatiques. Les enfants atteints peuvent éprouver de la douleur ou une perte fonctionnelle, présenter une infection ou une coagulopathie ou être confrontés à des difficultés psychologiques. Le diagnostic et la prise en charge exigent souvent une approche interdisciplinaire. Sept cliniques d'anomalies vasculaires au Canada offrent des soins interdisciplinaires. Le présent point de pratique propose une approche thérapeutique des anomalies vasculaires pédiatriques les plus fréquentes (hémangiomes). On y passe en revue les indications de diriger les patients vers une clinique spécialisée, en s'attardant sur les anomalies vasculaires complexes, et notamment les hémangiomes infantiles, qui peuvent provoquer des complications.
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http://dx.doi.org/10.1093/pch/pxac056 | DOI Listing |
Invest Ophthalmol Vis Sci
September 2024
Ophthalmology Department, AP-HP, Hôpital Lariboisière, Université Paris Cité, Paris, France and Centre de Référence des Maladies Vasculaires Rares du Cerveau et de l'Œil (CERVCO), Hôpital Lariboisière, APHP, Paris, France.
Purpose: To assess the correspondence between interdigitation zone (IZ) reflectivity, ellipsoid zone (EZ) loss, inner retinal layer reflectivity, patterns of capillary dilation, and telangiectasia in eyes with early macular telangiectasia type 2 (MacTel).
Patients And Methods: Twenty-eight eyes of 22 patients with grade 0-2 MacTel (according to the MacTel project classification) and 28 healthy control eyes were included in this study. Multimodal imaging, including optical coherence tomography (OCT) angiography, adaptive optics flood illumination ophthalmoscopy (AO-FIO) and blue light reflectance (BLR), was performed.
Eur J Neurol
December 2024
Paris Brain Institute, INSERM, CNRS, Sorbonne Université, Paris, France.
ERJ Open Res
July 2024
Faculté de Médecine, Université de Paris Cité, Paris, France.
https://bit.ly/48GnoJy.
View Article and Find Full Text PDFHepatology
June 2024
Université Paris-Cité, Inserm, Centre de recherche sur l'inflammation, UMR 1149, Paris, France.
Porto-sinusoidal vascular disorder (PSVD) is a rare liver disease. The pathophysiological mechanisms underlying the development of PSVD are unknown. Isolated cases of PSVD associated with gene mutations have been reported, but no overview is available.
View Article and Find Full Text PDFJ Clin Invest
May 2024
Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.
Primary lymphedema (PL), characterized by tissue swelling, fat accumulation, and fibrosis, results from defects in lymphatic vessels or valves caused by mutations in genes involved in development, maturation, and function of the lymphatic vascular system. Pathogenic variants in various genes have been identified in about 30% of PL cases. By screening of a cohort of 755 individuals with PL, we identified two TIE1 (tyrosine kinase with immunoglobulin- and epidermal growth factor-like domains 1) missense variants and one truncating variant, all predicted to be pathogenic by bioinformatic algorithms.
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