Browsing by Author "Mellado Sagredo, Cecilia"

Now showing 1 - 11 of 11
  • Thumbnail Image
    Item
    A deletion of more than 800 kb is the most recurrent mutation in chilean patients with SHOX gene defects
    (2015) Poggi, Helena; Vera, A.; Avalos, C.; Lagos, M.; Mellado Sagredo, Cecilia; Aracena Álvarez, Mariana Inés; Aravena, T.; García Bruce, Hernán; Godoy Cortés, Claudia Loreto; Cattani Ortega, Andreina; Reyes, L.; Lacourt, P.; Rumié Carmi, Hana K.; Mericq, V.; Arriaza, M.; Martinez-Aguayo, A.
  • Thumbnail Image
    Item
    Consenso de la Rama de Genética de la Sociedad Chilena de Pediatría sobre las anomalías congénitas de mal pronóstico vital (ACMPV)
    (2016) Pardo Vargas, Rosa, A.; Aracena Álvarez, Mariana Inés; Aravena, Teresa; Del Cares, Carolina; Cortés, Fanny; Faundes, Víctor; Mellado Sagredo, Cecilia; Passalacqua, Cristóbal; Sanza, Patricia; Castillo Taucher, Silvia
  • Thumbnail Image
    Item
    Dandy-walker malformation with postaxial polydactly : a new case of Pierquin syndrome
    (2013) Passalacqua, Cristóbal A.; Villegas, Victor P.; Aracena Álvarez, Mariana Inés; Mellado Sagredo, Cecilia
  • Thumbnail Image
    Item
    Espectro fenotípico de Síndrome de CHARGE neonatal
    (2019) Sánchez Otayza, Natalia Alejandra; Hernández, Marta; Cruz, Juan Pablo; Mellado Sagredo, Cecilia
    El Síndrome de CHARGE (SCH), es un síndrome genético de amplia variabilidad fenotípica, de herencia autosómica dominante, causado por variantes patogénicas en el gen CHD7. Objetivo: Describir el amplio espectro fenotípico de un SCH neonatal, heterocigoto para el gen CDH7 y la utilidad de la secuenciación en la confirmación diagnóstica, considerando los diagnósticos diferenciales. Caso Clínico: recién nacida prematura de 34 semanas, con antecedentes prenatales de polihidroamnios severo, translucencia nucal aumentada y foco hiperecogénico cardiaco, con estudio de TORCH antenatal, que descartó infección congénita. Al nacer se pesquisó parálisis facial periférica, atresia de coanas, dismorfias múltiples, cardiopatía congénita y coloboma retinocoroideo bilateral. Las neuroimágenes mostraron hipoplasia de cóclea y de canales semicirculares bilaterales e hipoplasia pontocerebelosa. Los potenciales evocados auditivos mostraron hipoacusia sensorioneural profunda derecha y anacusia izquierda. Evolucionó con hipocalcemia y alteraciones en la inmunidad, confirmándose un hipoparatiroidismo e hipoplasia de timo. El cariograma fue normal y la amplificación de sondas dependiente de ligandos múltiples (MLPA) excluyó microdeleción 22q11.2. La sospecha clínica de SCH se confirmó con la detección de una variante patogénica en el gen CHD7. Conclusiones: La superposición de características clínicas del SCH con otros síndromes genéticos requiere confirmación genética molecular considerando diferencias en evolución, terapias y riesgos de recurrencia
  • Thumbnail Image
    Item
    Impacto de la enfermedad genética en los ingresos hospitalarios en un Servicio de Pediatría
    (2016) Moya, Ana; Hernández, M.; Mellado Sagredo, Cecilia
  • Thumbnail Image
    Item
    Lisencefalia y epilepsia en pediatría
    (2007) Hernández Chávez, Marta Isabel; Bolte Marlhoz, Lillian; Mesa Latorre, Tomás; Escobar Henríquez, Raul; Mellado Sagredo, Cecilia; Huete Lira, Isidro
    Background: Lissencephaly is a brain malformation caused by defective neuronal migration and characterized by epilepsy and severe psychomotor retardation, with high mortality. Objective: Describe the clinical presentation, neuroradiologic characteristics and evolution of 9 children with lissencephaly. Results: 9 children (4 males) were controlled between 1999 and 2007. The diagnosis was made during the neonatal period in 4 patients; 3 cases presented seizures and microcephaly, while 1 newborn had a prenatal ultrasonography showing cerebral malformation. The diagnosis was made during the first year of life in 5 patients; 4 cases had epilepsy, severe psychomotor retardation and microcephaly, while 1 child had macrocephaly. During follow-up period, 8/9 children had catastrophic epilepsy and severe psychomotor retardation. Conclusions: Lissencephaly is a pathology with bad prognosis, usually diagnosed during the first year of life. Symptoms include refractory epilepsy and severe psychomotor delay. It is important to complete the evaluation with genetic studies and high - resolution neuroimaging, in order to perform an early diagnosis, predict evolution and offer genetic counsil. © 2008 Sociedad Chilena de Pediatría.
  • Thumbnail Image
    Item
    Neural tube defects prevalence does not increase after modification of the folic acid fortification program in Chile
    (2022) Pardo, Rosa; Vilca, Marcela; Villarroel del Pino, Luis A.; Davalji, Tahera; Obrycki, John F.; Mazumdar, Maitreyi; Ávila, Claudia; Mellado Sagredo, Cecilia
    Background:In 2000, Chile’s Ministry of Health mandated fortification ofwheat flour with folic acid at a concentration of 2.2 mg/kg to prevent neuraltube defects (NTDs), resulting in a 50% reduction in NTD prevalence. Con-cerns about possible collateral effects of high folic acid intake led, in 2009, todecrease the folic acid fortification to 1.8 mg/kg of flour. Our study evaluatedthe impact of this modification on the prevalence of NTDs in Santiago.Methods:This study measured the prevalence of NTDs in live births and still-births born in Santiago. We calculated prevalence ratios (PR) and 95% confi-dence intervals (CI) between pre-folic acid fortification (1999–2000), post-folicacid fortification (2001–2009), and post-modified folic acid fortification (2010–2015) periods for all NTDs and their specific types. We used chi-square tests toanalyze proportions, and a Joinpoint regression to visualize prevalence timetrends.Results:The NTD prevalence for the period 2001–2015 was 8.9 per 10,000births, which represents a 48% reduction (PR=0.52; 95% CI=0.45–0.61;p< .001) from the pre-folic acid fortification period. During 2010–2015, theNTD prevalence was 9.5/10,000 births, which was higher, but not statisticallysignificantly different from 2001 to 2009 prevalence of 8.6/10,000 (PR=1.11;95% CI=0.96–1.30,p=.17).Conclusions:Decreasing the concentration of folic acid fortification was notassociated with a statistically significant change in the prevalence of NTDs.Mandatory folic acid fortification continues to be a safe and highly effectivepolicy to prevent NTDs. Future studies should evaluate the prevalence ofNTDs across Chile and adherence to folic acid fortification mandates
  • Thumbnail Image
    Item
    Pseudohipoparatiroidismo de presentación tardía: reporte de dos casos
    (2018) Peña, Carolina; Pinochet, Constanza; Florenzano Valdés, Pablo Felipe; Mendoza, Carolina; Garfias, Carolina; Aracena Álvarez, Marcela; Mellado Sagredo, Cecilia; González Vicente, Gilberto
  • Thumbnail Image
    Item
    Resultado de estudio prenatal invasivo para el diagnóstico de aneuploidía en el Hospital Sótero del Río
    (2016) Vargas Innocenti, Paula Andrea; Sepúlveda M., Sebastián; Kusanovic, Juan Pedro; Parra, Zasha; Mellado Sagredo, Cecilia; Pardo, Rosa; Silva, Karla; Díaz, Francisco; Ferrer Márquez, Fernando Andrés; Córdova, Víctor; Valdés, Rafael; Martinovic, Carolina; Salas, Carolina; Cortés, Patricio
  • Thumbnail Image
    Item
    STURGE-WEBER SYNDROME : CLINICAL AND RADIOLOGICAL CORRELATES IN 86 PATIENTS
    (2013) Fogarasi, A.; Loddenkemper, T.; Mellado Sagredo, Cecilia; Tuxhorn, I.; Evers, G.; Sarco, D.; Burgess, R. et al.
  • Thumbnail Image
    Item
    Talla baja e hipotiroidismo en un niño con Síndrome de Nail-Patella. Reporte de un caso clínico
    (2018) Goecke, C.; Mellado Sagredo, Cecilia; García Bruce, Cristián Jorge; García Bruce, Hernán