Browsing by Author "Mellado Sagredo, Cecilia Ximena Del Carmen"

Now showing 1 - 3 of 3
  • Thumbnail Image
    Item
    A new presentation of the chimeric CYP11B1/CYP11B2 gene with low prevalence of primary aldosteronism and atypical gene segregation pattern
    (Lippincott Williams & Wilkins, 2012) Carvajal Maldonado, Cristian Andrés; Campino Johnson, María del Carmen; Martínez Aguayo, Alejandro Gregorio; Tichauer Calderón, Juan Enrique; Bancalari, Rodrigo; Valdivia, Carolina; Trejo, Pamela; Aglony Imbarack, Marlene Elizabeth; Baudrand Biggs, René Felipe; Lagos Arévalo, Carlos Fernando; Mellado Sagredo, Cecilia Ximena Del Carmen; García Bruce, Hernán Gabriel; Fardella Bello, Carlos Enrique
  • Thumbnail Image
    Item
    Prevalence of microcephaly: The Latin American Network of Congenital Malformations 2010-2017
    (BMJ Publishing Group, 2021) Morris, J.; Limb, E.; Orioli, I.M.; Benavides-Lara, A.; De La Paz Barboza-Arguello, M.; Tapia, M.A.C.; De Franca, G.V.A.; Groisman, B.; Holguin, J.; Hurtado-Villa, P.M.; Ibarra Ramirez, M.; Mellado Sagredo, Cecilia Ximena Del Carmen; Pardo, R.; Pastora Bucardo D.M.; Rodriguez, C.; Zarante, I.; Dolk, H.
    Objective: The Latin American Network of Congenital Malformations: ReLAMC was established in 2017 to provide accurate congenital anomaly surveillance. This study used data from ReLAMC registries to quantify the prevalence of microcephaly from 2010 to 2017 (before, during and after the Zika virus epidemic). Design Nine ReLAMC congenital anomaly registries provided case-level data or aggregate data for any live births, still births or terminations of pregnancy with microcephaly. Births to pregnant women infected with Zika virus first occurred in Brazil in 2015, and in the remaining registry areas in 2016 with the exception of Chile that did not experience Zika virus. Therefore the prevalence of microcephaly for 2010-2014 and individual years 2015, 2016 and 2017 was estimated using multilevel random effect Poisson models. Clinical classification and characteristics of the cases were compared pre and post Zika for all centres providing individual case-level data. Results The prevalence of microcephaly for all registries excluding Brazil was 2.3 per 10 000 (95% CI 2.0 to 2.6) for 2010-2014 rising to 5.4 (95% CI 4.8 to 6.0) in 2016 and 5.9 (95% CI 5.3 to 6.6) in 2017. Brazil had a prevalence of 0.6 per 10 000 (95% CI 0.5 to 0.6) in 2010-2014, rising to 5.8 (95% CI 5.6 to 6.1) in 2015, 8.0 (95% CI 7.6 to 8.3) in 2016 and then falling in 2017. Only 29 out of 687 cases of microcephaly were reported as congenital Zika syndrome in countries excluding Brazil. Conclusions The prevalence of microcephaly was influenced both by Zika causing congenital Zika syndrome and by increased reporting awareness.
  • No Thumbnail Available
    Item
    Skeletal dysplasias in Latin America
    (2020) Cavalcanti, Denise P.; Fano, Virginia; Mellado Sagredo, Cecilia Ximena Del Carmen; Lacarrubba‐Flores, María Dora; Silveira, Cynthia; Silveira, Karina C.; Pino, Mariana del; Moresco, Angélica; Caino, Silvia; Ramos Mejía, Rosario; García B., Cristián; Lay-Son Rodríguez, Guillermo Roberto; Ferreira, Carlos F.
    Skeletal dysplasias (SD) are disturbances in growth due to defects intrinsic to the bone and/or cartilage, usually affecting multiple bones and having a progressive character. In this article, we review the state of clinical and research SD resources available in Latin America, including three specific countries (Brazil, Argentina, and Chile), that have established multidisciplinary clinics for the care of these patients. From the epidemiological point of view, the SD prevalence of 3.2 per 10,000 births from nine South American countries included in the ECLAMC network represents the most accurate estimate not just in Latin America, but worldwide. In Brazil, there are currently five groups focused on SD. The data from one of these groups including the website www.ocd.med.br, created to assist in the diagnosis of SD, are highlighted showing that telemedicine for this purpose represents a good strategy for the region. The experience of more than 30 years of the SD multidisciplinary clinic in an Argentinian Hospital is presented, evidencing a solid experience mainly in the follow-up of the most frequent SD, especially those belonging the FGFR3 group and OI. In Chile, a group with 20 years of experience presents its work with geneticists and pediatricians, focusing on diagnostic purposes and clinical management. Altogether, although SD health-care and research activities in Latin America are in their early stages, the experience in these three countries seems promising and stimulating for the region as a whole.