Results 1 to 10 of about 19,852 (146)
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 +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 +2 more
doaj +2 more sources
El conjunto mínimo básico de datos al alta hospitalaria como fuente de información para el estudio de las anomalías congénitas [PDF]
Revista Española de Salud Pública, 1999 FUNDAMENTO: El objetivo del estudio es evaluar la validez de los diagnósticos informatizados de alta hospitalarios de anomalías congénitas, comparándolos con la información contenida en la historia clínica.
Alba Moratilla Nieves +2 more
doaj +1 more source
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 +7 more
doaj +1 more source
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 +10 more
doaj +1 more source
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 +4 more
doaj +1 more source
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 +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 +2 more
doaj +1 more source
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 +9 more
doaj +1 more source
Geographic clusters of congenital anomalies in Argentina [PDF]
, 2016 Geographical clusters are defined as the occurrence of an unusual number of cases higher than expected in a given geographical area in a certain period of time.
Barbero, Pablo +7 more
core +1 more source