Nicole Nakousi-Capurro

• MD
• Clinical Geneticist at Hospital Carlos Van Buren

El síndrome de Varsovia (WABS) es una enfermedad autosómica recesiva muy poco frecuente. Hasta la fecha se han identificado 24 casos en la literatura. Hay descripciones de pacientes con diferentes orígenes étnicos, pero sólo uno de ellos latinoamericano, en Uruguay.Objetivo: Reportar un caso en Chile que se manifestó con la tríada clásica, con el o...

Warsaw Breakage Syndrome (WABS) is a very rare autosomal recessive disease. To date, only 24 cases have been described in medical literature. There are descriptions of patients from various ethnic orig ins, but only one of them is from Latin America, in Uruguay. Objective: to report a clinical case from Chile, which presented the classic triad, in...

Contrary to popular belief, rare genetic diseases affect a significant portion of the global population, with a prevalence ranging from 3.5% to 8 %. These conditions are particularly prevalent among children. In Chile, the interval between the onset of symptoms and the diagnosis of these diseases can extend between six and eight years, resulting in...

Introduction: With 35 Clinical Geneticists (CG) for Chile’s 19.49 million (0.19 CG for 100,000 inhabitants), there is a national scarcity for genetic services and genetic disease prevalence data. The largest national patient-led survey counts one million patients with genetic conditions in 2019, with 47% waiting 1-3 years for a diagnosis and 21% wa...

Importance Variants of uncertain significance (VUSs) are rampant in clinical genetic testing, frustrating clinicians, patients, and laboratories because the uncertainty hinders diagnoses and clinical management. A comprehensive assessment of VUSs across many disease genes is needed to guide efforts to reduce uncertainty. Objective To describe the...

Introducción: El Síndrome de Down se presenta en 2,5 de 1.000 recién nacidos vivos chilenos. Presentan más anomalías congénitas y comorbilidades que la población general, aumentando su tasa de hospitalización. Objetivo: Describir las anomalías congénitas y comorbilidades de neonatos con Síndrome de Down nacidos y/u hospitalizados en la década 2008...

Knobloch Syndrome (KS) is a rare autosomal recessive hereditary disease. Despite its clinical heterogeneity, it is characterized by vitreoretinal degeneration and high myopia, with or without occipital skull defects. It is caused by mutations in the COL18A1 gene, which codifies for collagen XVIII, present in retina and vascular endothelium. Since t...