Results 1 to 10 of about 19,951 (154)

Sistemas de vigilancia de anomalías congénitas en América Latina y el Caribe: presente y futuro [PDF]

Revista Panamericana de Salud Pública, 2019
Objetivos. Conocer la disponibilidad de los sistemas nacionales de vigilancia de anomalías congénitas en América Latina y el Caribe y describir sus características. Métodos. Estudio transversal mediante una encuesta semiestructurada y autoadministrada en
Pablo Durán, Rosa Liascovich, Pablo Barbero, María Paz Bidondo, Boris Groisman, Suzanne Serruya, Luis Andrés de Francisco, Francisco Becerra-Posada, Amparo Gordillo-Tobar   +8 more
doaj   +2 more sources

PREVALÊNCIA DE ANOMALIAS CONGÊNITAS E FATORES ASSOCIADOS EM RECÉM-NASCIDOS DO MUNICÍPIO DE SÃO PAULO NO PERÍODO DE 2010 A 2014 [PDF]

Revista Paulista de Pediatria, 2017
RESUMO Objetivo: Estudar a prevalência de anomalias congênitas em nascidos em maternidades do município de São Paulo, no período de 2010 a 2014, assim como analisar possíveis fatores associados às anomalias.
Henrique Willian Cosme, Laura Silva Lima, Lene Garcia Barbosa   +2 more
doaj   +2 more sources

Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A

Frontiers in Genetics, 2023
Congenital muscular dystrophy type 1A (CMD1A) is a rare autosomal recessive disorder caused by mutations in the LAMA2 gene. CMD1A is characterized by peripheral hypotonia and muscle weakness from the first months of life, cerebral white matter ...
Natalia Diaz-Lombana, Lorena Diaz-Ordoñez, Lorena Diaz-Ordoñez, Juan David Gutierrez-Medina, Juan David Gutierrez-Medina, Harry Pachajoa, Harry Pachajoa, Harry Pachajoa   +7 more
doaj   +1 more source

Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population

Scientific Reports, 2023
Up to 40% of rare disorders (RD) present facial dysmorphologies, and visual assessment is commonly used for clinical diagnosis. Quantitative approaches are more objective, but mostly rely on European descent populations, disregarding diverse population ...
Luis M. Echeverry-Quiceno, Estephania Candelo, Eidith Gómez, Paula Solís, Diana Ramírez, Diana Ortiz, Alejandro González, Xavier Sevillano, Juan Carlos Cuéllar, Harry Pachajoa, Neus Martínez-Abadías   +10 more
doaj   +1 more source

Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman

Frontiers in Genetics, 2023
Craniofrontonasal Syndrome is a very rare dominant X-linked genetic disorder characterized by symptoms such as hypertelorism, craniosynostosis, eye alterations, bifid nose tip, and longitudinal ridging and splitting of nails.
Harry Pachajoa, Harry Pachajoa, Diana Marcela Vasquez-Forero, Diana Marcela Vasquez-Forero, Sebastian Giraldo-Ocampo   +4 more
doaj   +1 more source

Frequency of chromosome 22q11.2 deletion among newborns with non-syndromic congenital heart defects from western Mexico

Boletín Médico del Hospital Infantil de México, 2022
Background: Congenital heart defects (CHD) are among the most frequent manifestations of 22q11.2 deletion syndrome. Although we found relatively few studies aimed at specifically detecting 22q11.2 deletion in newborns (NB) with CHD, none of them has been
Gerardo E. Fabián-Morales, Lucina Bobadilla-Morales, Christian Peña-Padilla, Rafael Nieto-García, Pascuala B. Rivera-Ramírez, Alfredo Corona-Rivera, Aurea Márquez-Mora, Graciela Macías-Salcedo, Idalid Cuero-Quezada, Jorge R. Corona-Rivera   +9 more
doaj   +1 more source

Fatores maternos e neonatais associados às anomalias congênitas

Revista de Enfermagem da Universidade Federal de Santa Maria, 2023
Objetivo: analisar os fatores maternos e neonatais associados às anomalias congênitas no estado do Rio Grande do Sul. Método: estudo transversal com dados secundários. A amostra foi composta por 5.830 nascidos vivos entre 2012 a 2015.
Franciela Delazeri Carlotto, Rafael Cerva Melo, Deise Lisboa Riquinho   +2 more
doaj   +1 more source

Methylation Status of GLP2R, LEP and IRS2 in Small for Gestational Age Children with and without Catch-up Growth

JCRPE, 2021
Objective:In small for gestational age (SGA) children, catch-up growth could be influenced by methylation of several genes involved in metabolism. Epigenetics may influence the development of metabolic diseases in adulthood. To compare the methylation of
Mario Angulo, Diana Ramirez-Montaño, Laura Torres-Canchala, Ximena García, Rodrigo Lemus, Ana M. Aristizabal, Danielle Floyd-Aristizábal, Diana M. Dávalos, Lorena Diaz-Ordoñez, Harry Pachajoa   +9 more
doaj   +1 more source

Analysis on risk factors associated with birth defects in newborns in the area of the Matanza-Riachuelo river basin.

Revista de la Facultad de Ciencias Médicas de Córdoba, 2018
Introduction: Matanza-Riachuelo basin is one of the most polluted sites in Argentina, with 4,885,000 inhabitants. This study evaluated risk factors associated with congenital anomalies (CA) and low birth weight.
María Paz Bidondo, Boris Groisman, Juan Antonio Gili, Rosa Liascovich, María Cecilia Martin, Ana Tocci, Romina Flores, Andrea Pus Barraza, Pablo Barbero   +8 more
doaj   +1 more source

Microcephaly in Colombia before the Zika outbreak: A systematic literature review

Biomédica: revista del Instituto Nacional de Salud, 2018
Introduction: Microcephaly is characterized by a smaller than normal head circumference. Recently, Zika virus (ZV) has been associated with microcephaly.
Estephania Candelo, Gabriela Caicedo, Max Feinstein, Harry Pachajoa   +3 more
doaj   +1 more source