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1.
S D Med ; 75(5): 230-233, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35724354

RESUMO

We present a case of a female American Indian neonate born via a provider unattended home delivery. Her mother received limited prenatal care and the infant was not examined by a healthcare provider until day of life 10 when she presented to the emergency department for evaluation of a skin rash. She was found to have severe hypernatremic dehydration. She was subsequently diagnosed with tetralogy of Fallot, and this was the likely cause of her breastfeeding failure dehydration. The infant underwent careful correction of her electrolyte abnormalities and surgical repair of her cardiac defect on day of life 27. This case highlights the importance of comprehensive care during the prenatal and postpartum/newborn periods, especially in rural locations where access to care can be difficult.


Assuntos
Tetralogia de Fallot , Criança , Desidratação/diagnóstico , Desidratação/etiologia , Desidratação/terapia , Feminino , Humanos , Lactente , Recém-Nascido , Mães , Assistência Perinatal , Gravidez , Tetralogia de Fallot/complicações , Tetralogia de Fallot/diagnóstico , Tetralogia de Fallot/cirurgia
2.
Neonatology ; 118(4): 500-504, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34004602

RESUMO

We report a case of a male neonate delivered urgently via cesarean at thirty-five 5/7 weeks gestation for non-reassuring fetal monitoring who was found to have severe anemia at birth that could not be explained by acute blood loss. He was born to a 24-year-old mother, whose pregnancy was complicated by abnormal ultrasound findings, including a radial ray defect and fetal growth restriction. Trio rapid whole-exome sequencing (rWES) confirmed Diamond-Blackfan anemia in both the neonate and mother. This case highlights the importance of fetal surveillance and the clinical utility of rWES in the neonatal intensive care setting.


Assuntos
Anemia de Diamond-Blackfan , Anemia de Diamond-Blackfan/genética , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Sequenciamento do Exoma , Adulto Jovem
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