Association Between Neighborhood Socioeconomic Factors and Length of Stay After Surgery for Congenital Heart Disease.

OBJECTIVES: Neighborhood socioeconomic status, as measured by area deprivation index (ADI) is associated with longer length of stay (LOS) after surgery for hypoplastic left heart syndrome. We tested the hypothesis that LOS is associated with ADI in a large cohort of congenital heart disease (CHD) surgical cases of varying severity and sought to determine which other components of the ADI accounted for any associations. DESIGN: Retrospective analysis of a curated dataset. The Brokamp ADI was determined using residential addresses. Overall, ADI and each of its six individual components were dichotomized, and LOS compared between groups above versus below the median for the entire cohort and after stratifying by surgical The Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery (STAT) severity category. SETTING: Single-center academic pediatric teaching hospital. PATIENTS: CHD patients who underwent surgical repair/palliation between September 2007 and August 2022. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: A total of 2462 patients (52.7% male) were included. Median age was 254 (interquartile range [IQR] 95-1628) days and median LOS in the hospital was 8 (IQR 5-18) days. We failed to identify an association between Brokamp ADI, above versus below the median for the entire cohort, and LOS; nor in STAT categories 1-4. However, in STAT category 5 (n = 129) those with ADI above the median (more deprived) had a significantly longer LOS (48 [20-88] vs. 36 [18-49] d, p = 0.034). Of the individual components of the ADI, only percent below poverty level and percent vacant houses were associated with LOS in STAT category 5. CONCLUSIONS: LOS after CHD surgery is associated with Brokamp ADI in STAT category 5 cases, we failed to identify an association in lower-risk cardiac operations.

Evaluation of NAVA-PAP in premature neonates with apnea of prematurity: minimal backup ventilation and clinically significant events.

Background: Neonates with apnea of prematurity (AOP) clinically deteriorate because continuous positive airway pressure (CPAP) provides inadequate support during apnea. Neurally adjusted ventilatory assist (NAVA) provides proportional ventilator support from the electrical activity of the diaphragm. When the NAVA level is 0 cmH2O/mcV (NAVA-PAP), patients receive CPAP when breathing and backup ventilation when apneic. This study evaluates NAVA-PAP and time spent in backup ventilation. Methods: This was a prospective, two-center, observational study of preterm neonates on NAVA-PAP for AOP. Ventilator data were downloaded after 24 h. The number of clinically significant events (CSEs) was collected. A paired t-test was used to perform statistical analysis. Results: The study was conducted on 28 patients with a gestational age of 25 ± 1.8 weeks and a study age of 28 ± 23 days. The number of CSEs was 4 ± 4.39/24 h. The patients were on NAVA-PAP for approximately 90%/min, switched to backup mode 2.5 ± 1.1 times/min, and spent 10.6 ± 7.2% in backup. Conclusion: Preterm neonates on NAVA-PAP had few CSEs with minimal time in backup ventilation.

A novel, likely pathogenic variant in UBTF-related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype.

BACKGROUND: A de novo, pathogenic, missense variant in UBTF, c.628G>A p.Glu210Lys, has been described as the cause of an emerging neurodegenerative disorder, Childhood-Onset Neurodegeneration with Brain Atrophy (CONDBA). The p.Glu210Lys alteration yields a positively charged stretch of three lysine residues. Functional studies confirmed this change results in a stronger interaction with negatively charged DNA and gain-of-function activity when compared to the wild-type sequence. The CONDBA phenotype reported in association with p.Glu210Lys consists of normal early-neurodevelopment followed by progressive motor, cognitive, and behavioral regression in early-to-middle childhood. METHODS AND RESULTS: The current proband presented at 9 months of age with baseline developmental delay and more extensive neuroradiological findings, including pontine hypoplasia, thalamic volume loss and signal abnormality, and hypomyelination. Like the recurrent CONDBA p.Glu210Lys variant, this novel variant, c.608A>G p.(Gln203Arg) lies within the highly conserved second HMG-box homology domain and involves the replacement of the wild-type residue with a positively charged residue, arginine. Computational structural modeling demonstrates that this amino acid substitution potentiates the interaction between UBTF and DNA, likely resulting in a gain-of-function effect for the UBTF protein, UBF. CONCLUSION: Here we present a new divergent phenotype associated with a novel, likely pathogenic, missense variant at a different position in the UBTF gene, c.608A>G p.(Gln203Arg).