Journal of perinatology : official journal of the California Perinatal Association
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Multicenter Study Comparative Study
High flow nasal cannula versus nasal CPAP for neonatal respiratory disease: a retrospective study.
Our objective is to assess the frequency of usage, safety and clinical utility of humidified high flow nasal cannula (HHFNC) in two tertiary care hospitals and compare outcomes to a historical control group of premature infants who received nasal continuous positive airway pressure (NCPAP). ⋯ HHFNC was well-tolerated by premature infants. Compared to infants managed with NCPAP, there were no apparent differences in adverse outcomes following the introduction of HHFNC. Additional research is needed to better define the utility and safety of HHFNC compared to NCPAP.
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Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle. OTC locus is located in the short arm of X-chromosome. ⋯ DNA sequence data showed that the mother was a carrier of the same novel mutation that was previously detected in the case of her son. In OTC deficiency, detection of female carriers is important for genetic counselling and eventual prenatal diagnosis.