2005
DOI: 10.1590/s0021-75572005000300009
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Abstract: Suggested citation: Piatto VB, Oliveira CA, Alexandrino F, Pimpinati CJ, Sartorato EL. Prospects for genetic hearing loss screening: 35delG mutation tracking in a newborn population. J Pediatr (Rio J). 2005;81:139-42. AbstractObjectives: To investigate the prevalence of the 35delG mutation in a newborn population, with specific molecular testing, and to evaluate the prospects for genetic neonatal screening for hearing impairment.Population and method: 233 newborn were evaluated at the Hospital de Base de São J… Show more

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Cited by 9 publications
(5 citation statements)
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“…Regarding the probable etiological diagnosis, there was a higher occurrence of family history in children with unilateral hearing loss (60%) compared to asymmetric bilateral loss (52%) ( Table 1). Similar data related to the higher prevalence of heredity factor, among all other indicators, have been described in the literature (25) . In the history, among different intercurrences, more than five days in the Intensive Care Unit (ICU) was the most significant (85.7%), probably due to the existence of other associated factors, such as ototoxic medication, hyperbilirubinemia, low weight and the use of ventilation, as already described in the literature (26) .…”
Section: Discussionsupporting
confidence: 86%
“…Regarding the probable etiological diagnosis, there was a higher occurrence of family history in children with unilateral hearing loss (60%) compared to asymmetric bilateral loss (52%) ( Table 1). Similar data related to the higher prevalence of heredity factor, among all other indicators, have been described in the literature (25) . In the history, among different intercurrences, more than five days in the Intensive Care Unit (ICU) was the most significant (85.7%), probably due to the existence of other associated factors, such as ototoxic medication, hyperbilirubinemia, low weight and the use of ventilation, as already described in the literature (26) .…”
Section: Discussionsupporting
confidence: 86%
“…Outro estudo nacional, com 223 recém-nascidos evidenciou a mutação 35delG em cinco heterozigotos, sendo portanto a prevalência de 2,24% (1:44,6) (22) . Esse resultado é concordante com estudos já realizados e descritos na literatura em diferentes populações.…”
Section: Discussionunclassified
“…Por esta razão, estudos sugerem que o teste genético seja incluído na bateria de testes na investigação de perdas auditivas neurossensoriais (15,(18)(19) como complemento à Triagem Auditiva Neonatal (22) .…”
Section: Discussionunclassified
“…É consenso atual que as mutações no loco DFNB1 sejam claramente a causa mais comum de DA em muitas populações. No Brasil, investigou-se a prevalência da mutação do 35delG em uma população de 223 RN, na qual encontraram uma prevalência de 2,24% de portadores dessa mutação 27 , contra 0,11% no presente estudo.…”
Section: Figura 1 -Condutas De Avaliações Dos Rn Submetidos a Tan No unclassified