Browsing by Author "Miranda, Macarena"

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    Construcción colectiva de programa de comunicación total habla signada ( adaptación)
    (Universidad del Desarrollo. Facultad de Educación, 2020-04) Miranda, Macarena; Coloma Navarro, Katherine
    El presente trabajo de investigación- acción presenta un marco teórico que abarca desde la nueva conceptualización del concepto de Discapacidad Intelectual, bajo el modelo de la multidimensionalidad, y colocando énfasis en el enfoque de calidad de vida. Luego aborda contenidos de Comunicación, realizando una caracterización de las competencias comunicativas de las personas con Discapacidad Intelectual para abordar sistemas de comunicación que intentan responder a estas necesidades.
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    Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
    (Nature, 2017) Leon, Luis; Benavides, Felipe; Karena, Espinoza; Vial, Cecilia; Alvarez, Patricia; Palomares, Mirta; Lay-Son, Guillermo; Miranda, Macarena; Repetto, Gabriela
    22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5–3 Mb on chromosome region 22q11.2. Patients with the deletion present features that include neuropsychiatric problems, craniofacial abnormalities and cardiovascular malformations. However, the phenotype is highly variable and the factors related to the clinical heterogeneity are not fully understood. About 65% of patients with 22q11.2DS have congenital heart defects (CHD). The main goal of this study was to identify common CNVs in 22q11.2DS patients that could be associated with the incomplete penetrance of CHD. Analysis of genomic DNA from 253 patients with 22q11.2DS using array technology showed an association between a microduplication located in region 17q21.31 and CHD (p-value = 0.023, OR = 2.75, 95% CI = 1.17–7.03). This region includes the first three exons of KANSL1 gene. Bioinformatic analysis showed that KANSL1 and CRKL, a gene in the commonly deleted region of 22q11.2DS, are part of the same regulatory module in a miRNA-mRNA network. These results show that a KANSL1 microduplication, in combination with the 22q11.2 deletion, is associated with increased risk of CHD in these patients, suggesting that KANSL1 plays a role as a modifier gene in 22q11.2DS patients.

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