The mobile NCPAP cart with prepacked fixation kits is a practical way of expediting the initiation of NCPAP therapy. The written nursing protocol decreased the incidence of nasal trauma in infants, except for those with an extremely low birth weight.
Objectives:
Critical illnesses caused by undiagnosed genetic conditions are challenging in PICUs. Whole-exome sequencing is a powerful diagnostic tool but usually costly and often fail to arrive at a final diagnosis in a short period. We assessed the feasibility of our whole-exome sequencing as a tool to improve the efficacy of rare diseases diagnosis for pediatric patients with severe illness.
Design:
Observational analysis.
Method:
We employed a fast but standard whole-exome sequencing platform together with text mining-assisted variant prioritization in PICU setting over a 1-year period.
Setting:
A tertiary referral Children’s Hospital in Taiwan.
Patients:
Critically ill PICU patients suspected of having a genetic disease and newborns who were suspected of having a serious genetic disease after newborn screening were enrolled.
Interventions:
None.
Measurements and Main Results:
Around 50,000 to 100,000 variants were obtained for each of the 40 patients in 5 days after blood sampling. Eleven patients were immediately found be affected by previously reported mutations after searching mutation databases. Another seven patients had a diagnosis among the top five in a list ranked by text mining. As a whole, 21 patients (52.5%) obtained a diagnosis in 6.2 ± 1.1 working days (range, 4.3–9 d). Most of the diagnoses were first recognized in Taiwan. Specific medications were recommended for 10 patients (10/21, 47.6%), transplantation was advised for five, and hospice care was suggested for two patients. Overall, clinical management was altered in time for 81.0% of patients who had a molecular diagnosis.
Conclusions:
The current whole-exome sequencing algorithm, balanced in cost and speed, uncovers genetic conditions in infants and children in PICU, which helps their managements in time and promotes better utilization of PICU resources.
Preeclampsia is a common cause of preterm birth and neonatal morbidity, but its relationship with neonatal respiratory distress syndrome (RDS) remains controversial. We conducted a retrospective cohort study with data from very-low-birth-weight (VLBW) infants born in 1997–2014 from the database of the Premature Baby Foundation of Taiwan to evaluate the relationship between maternal preeclampsia and neonatal RDS. In total, 13,490 VLBW infants were enrolled, including 2200 (16.3%) infants born to preeclamptic mothers. The mean (standard deviation) gestational ages were 30.7 (2.5) weeks in the preeclamptic group and 28.6 (2.9) weeks in the control (non-preeclamptic) group. Severe RDS was defined according to the surfactant therapy requirement. The incidence of severe RDS was lower in infants exposed to maternal preeclampsia than in controls [28.9% vs. 44%; odds ratio (OR), 0.52; 95% confidence interval (CI), 0.47–0.57]. However, after adjustment for confounders, the OR for severe RDS development in the preeclampsia group was 1.16 (95% CI, 1.02–1.31). Other factors, such as gestational age, birth weight, female sex, and antenatal receipt of two or more steroid doses were significantly protective against RDS in multivariate regression analysis. This study revealed that maternal preeclampsia slightly increases the risk of severe RDS in VLBW infants.
This study presents preliminary data on uNGAL levels in neonates in Taiwan. A large-scale study investigating the correlations between uNGAL and with gestational age, birth body weight, sex, and PNA is recommended.
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