Publications by authors named "Esther Rijntjes-Jacobs"

Background: There is no data available whether sedation should be given during minimally invasive surfactant therapy (MIST).

Objective: To compare the level of comfort of preterm infants receiving sedation versus no sedation for MIST.

Methods: A retrospective study of preterm infants receiving MIST was performed in Leiden University Medical Center in 2014.

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Background: Small for gestational age (SGA) neonates are at increased risk of mortality and morbidity, including necrotizing enterocolitis (NEC), but detailed information on the incidence and risk factors of NEC in SGA neonates is lacking.

Objective: This study aims to estimate the incidence of NEC in a large cohort of SGA neonates, compared to appropriate for gestational age (AGA) neonates.

Methods: We included all SGA neonates without congenital malformations admitted to our neonatal nursery between 2004 and 2013.

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The Schimmelpenning-Feuerstein-Mims (SFM) syndrome comprises a craniofacial nevus sebaceus, seizures, developmental delay, ocular and skeletal abnormalities. It is a sporadic condition and hypothesized to result from mosaicism involving a lethal autosomal dominant gene. We report a second occurrence of discordant monozygotic (MZ) twins with severe SFM, supporting the concept of a postzygotic mutation.

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