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1.
J Perinat Med ; 49(4): 520-525, 2021 May 26.
Article in English | MEDLINE | ID: mdl-33470963

ABSTRACT

OBJECTIVES: To examine whether audio-voice guidance application improves adherence to resuscitation sequence and recommended time frames during neonatal resuscitation. METHODS: A prospective, randomized, pilot study examining the use of an audio-voice application for guiding resuscitation on newborn mannequins, based on the Neonatal Resuscitation Program (NRP) algorithm. Two different scenarios, with and without voice guidance, were presented to 20 medical personnel (2 midwives, 8 nurses, and 10 physicians) in random order, and their performance videotaped. RESULTS: Audio-voice guided resuscitation compared with non-guided resuscitation, resulted in significantly better compliance with NRP order sequence (p<0.01), correct use of oxygen supplementation (p<0.01) and performance of MR SOPA (Mask, reposition, suction, open mouth, pressure, airway) (p<0.01), and shortened the time to "positive pressure ventilation" (p<0.01). CONCLUSIONS: In this pilot study, audio-voice guidance application for newborn resuscitation simulation on mannequins, based on the NRP algorithm, improved adherence and performance of NRP guidelines.


Subject(s)
Clinical Competence , Resuscitation , Simulation Training/methods , Task Performance and Analysis , Teaching Materials/standards , Algorithms , Duration of Therapy , Guideline Adherence , Humans , Infant, Newborn , Manikins , Medical Informatics Applications , Pilot Projects , Resuscitation/methods , Resuscitation/standards
2.
Clin Genet ; 98(4): 402-407, 2020 10.
Article in English | MEDLINE | ID: mdl-32683677

ABSTRACT

COG6-congenital disorder of glycosylation (COG6-CDG) is caused by biallelic mutations in COG6. To-date, 12 variants causing COG6-CDG in less than 20 patients have been reported. Using whole exome sequencing we identified two siblings with a novel homozygous deletion of 26 bp in COG6, creating a splicing variant (c.518_540 + 3del) and a shift in the reading frame. The phenotype of COG6-CDG includes growth and developmental retardation, microcephaly, liver and gastrointestinal disease, hypohydrosis and recurrent infections. We report two patients with novel phenotypic features including bowel malrotation and ambiguous genitalia, directing attention to the role of glycoprotein metabolism in the causation of disorders of sex development (DSD). Searching the glycomic literature, we identified 14 CDGs including males with DSD, a feature not previously accentuated. This study broadens the genetic and phenotypic spectrum of COG6-CDG and calls for increasing awareness to the central role of glycosylation processes in development of human sex and genitalia.


Subject(s)
Adaptor Proteins, Vesicular Transport/genetics , Congenital Disorders of Glycosylation/genetics , Disorders of Sex Development/genetics , Mixed Function Oxygenases/genetics , Congenital Disorders of Glycosylation/mortality , Congenital Disorders of Glycosylation/physiopathology , Disorders of Sex Development/mortality , Disorders of Sex Development/physiopathology , Female , Glycosylation , Homozygote , Humans , Infant, Newborn , Male , Mutation/genetics , Phenotype , Sequence Deletion/genetics , Siblings , Exome Sequencing
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