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INTRODUCTION: The EXTRACT-PE trial evaluated the safety and performance of the Indigo Aspiration System (Penumbra Inc.) with an 8F continuous mechanical aspiration thrombectomy system for the treatment of pulmonary embolism (PE). This subgroup analysis evaluates performance outcomes of patients with main pulmonary artery (PA) emboli versus discrete unilateral or bilateral PA emboli without main PA involvement. METHODS: The EXTRACT-PE trial was a prospective, single-arm, multicenter trial that enrolled 119 patients with acute submassive PE. Emboli location was collected at the time of enrollment, CT obstruction was measured and assessed by a Core Lab, and patients were grouped on whether emboli involved the main PA (with or without branch vessels) or not (branch vessels alone). Procedural device time, changes in the right ventricle to left ventricle (RV/LV) ratio, and systolic PA pressure from pre-and posttreatment were compared between the two groups. RESULTS: Out of the 119 patients enrolled, 118 had core lab-assessed clot locations. Forty-five (38.1%) had emboli that involved the main PA and 73 (61.9%) had only branch emboli. No significant difference was observed between these groups for 30-day mortality, procedural device time, changes in RV/LV ratio, reduction in CT Obstruction Index, or for systolic PA pressure from pre-and posttreatment. The mean absolute reduction in clot burden was significant in both groups. CONCLUSION: Continuous mechanical aspiration thrombectomy with the 8F Indigo Aspiration System was effective at improving clinical outcomes for submassive PE patients regardless of emboli location, and clot burden was significantly reduced in both groups.
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A bimetallic Pd complex of a bis(pincer) with a diarylpyrazine core has been prepared. The complex demonstrates near-perfect coplanarity of the aromatic core, is fluorescent under UV irradiation, and displays two quasi-reversible reduction events.
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Synthesis of a series of hydrocarbon-soluble triarylamines bearing F, CF3, and Br substituents showing quasi-reversible redox events in the 0.59-1.32 V range is reported. Chemical oxidation of the amines was carried out with 0.5PhI(OAc)2/Me3SiX/Na[RCB11Cl11] (X = Cl or OTf, R = H or Me), and a few aminium salts were isolated as pure solids.
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Autism is a complex neurodevelopmental disorder that has significant phenotypic overlap with several diseases, many of which fall within the broader category of autism spectrum disorders (ASDs). The etiology of the disorder is unclear and seems to involve a complex interplay of polygenic as well as environmental factors. We discuss evidence that suggests that epigenetic dysregulation is highly implicated as a contributing cause of ASDs and autism. Specifically, we examine neurodevelopmental disorders that share significant phenotypic overlap with ASDs and feature the dysregulation of epigenetically modified genes including UBE3A, GABA receptor genes, and RELN. We then look at the dysregulated expression of implicated epigenetic modifiers, namely MeCP2, that yield complex and varied downstream pleiotropic effects. Finally, we examine epigenetically mediated parent-of-origin effects through which paternal gene expression dominates that of maternal contributing to contrasting phenotypes implicated in ASDs. Such preliminary evidence suggests that elucidating the complex role of epigenetic regulations involved in ASDs could prove vital in furthering our understanding of the complex etiology of autism and ASDs.
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Trastornos Generalizados del Desarrollo Infantil/genética , Epigénesis Genética , Proteína 2 de Unión a Metil-CpG/fisiología , Proteínas del Tejido Nervioso/genética , Síndrome de Angelman/genética , Moléculas de Adhesión Celular Neuronal/biosíntesis , Moléculas de Adhesión Celular Neuronal/genética , Trastornos Generalizados del Desarrollo Infantil/terapia , Metilación de ADN/efectos de los fármacos , Proteínas de la Matriz Extracelular/biosíntesis , Proteínas de la Matriz Extracelular/genética , Regulación del Desarrollo de la Expresión Génica , Heterogeneidad Genética , Impresión Genómica/genética , Genotipo , Inhibidores de Histona Desacetilasas/farmacología , Inhibidores de Histona Desacetilasas/uso terapéutico , Humanos , Proteínas del Tejido Nervioso/biosíntesis , Fenotipo , Síndrome de Prader-Willi/genética , Receptores de GABA/biosíntesis , Receptores de GABA/genética , Proteína Reelina , Serina Endopeptidasas/biosíntesis , Serina Endopeptidasas/genética , Síndrome de Turner/genética , Ubiquitina-Proteína Ligasas/biosíntesis , Ubiquitina-Proteína Ligasas/genéticaRESUMEN
RNA exosomes are multi-subunit complexes conserved throughout evolution and are emerging as the major cellular machinery for processing, surveillance and turnover of a diverse spectrum of coding and noncoding RNA substrates essential for viability. By exome sequencing, we discovered recessive mutations in EXOSC3 (encoding exosome component 3) in four siblings with infantile spinal motor neuron disease, cerebellar atrophy, progressive microcephaly and profound global developmental delay, consistent with pontocerebellar hypoplasia type 1 (PCH1; MIM 607596). We identified mutations in EXOSC3 in an additional 8 of 12 families with PCH1. Morpholino knockdown of exosc3 in zebrafish embryos caused embryonic maldevelopment, resulting in small brain size and poor motility, reminiscent of human clinical features, and these defects were largely rescued by co-injection with wild-type but not mutant exosc3 mRNA. These findings represent the first example of an RNA exosome core component gene that is responsible for a human disease and further implicate dysregulation of RNA processing in cerebellar and spinal motor neuron maldevelopment and degeneration.