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| http://dx.doi.org/10.1016/j.jcin.2023.02.018 | DOI Listing |
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Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.
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Department of Neuroscience, University of Arizona, Tucson, AZ, USA. Electronic address:
Transmembrane protein 184B (TMEM184B) is an endosomal 7-pass transmembrane protein with evolutionarily conserved roles in synaptic structure and axon degeneration. We report six pediatric cases who have de novo heterozygous variants in TMEM184B; five individuals harbor a rare missense variant, and one individual has an mRNA splice site change. This cohort is unified by overlapping neurodevelopmental deficits including developmental delay, corpus callosum hypoplasia, seizures, and/or microcephaly.
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Subclinical Leaflet Thrombosis and Subclinical Aortic Valve Complex Thrombosis in TAVR.
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Department of Cardiology, University Hospital of Strasbourg, Strasbourg, France; Research Unit - UR3074 - Translational Cardiovascular Medicine, University of Strasbourg, Strasbourg, France; GERCA (Groupe pour l'Enseignement et la Recherche Cardiologique en Alsace), Strasbourg, France; Hanoï Medica
Subclinical leaflet thrombosis (SLT) following transcatheter aortic valve replacement occurs in 10% to 15% of patients at 1 month and up to 30% by 1 year, extending to perivalvular structures as subclinical aortic valve-complex thrombosis. We review contributing factors to SLT, including valve-specific parameters such as flow dynamics in the native sinus and neosinus, prosthesis sizing, deployment symmetry, implant depth, and commissural alignment; the persistent metabolic activity of retained calcified leaflets; and the impact of antithrombotic therapy on SLT incidence. Although oral anticoagulation reduces imaging-detected SLT, it increases bleeding and mortality.
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Department of Cardiovascular Surgery, Mount Sinai Health System, New York, New York, USA. Electronic address:
Background: The impact of implant depth of the Abbott Navitor intra-annular, self-expanding valve on redo-transcatheter aortic valve replacement (TAVR) feasibility is unknown.
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