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SAGE Open Medical Case Reports 2024Multiple intestinal atresia with combined immune deficiency is a severe autosomal recessive disorder caused by the tetratricopeptide repeat domain 7A () gene deficiency,...
Multiple intestinal atresia with combined immune deficiency is a severe autosomal recessive disorder caused by the tetratricopeptide repeat domain 7A () gene deficiency, which is characterized by extensive intestinal defects with immune deficiency. This report describes a fetus with deficiency who developed meconium peritonitis in utero. Evidence suggests that patients with deficiency present with intestinal defects as early as in utero. In this case, intestinal abnormalities were considered during the prenatal examination at week 28, and chromosome and genetic tests were performed. The results indicated that the fetus had a complex heterozygous mutation. The male infant underwent surgical treatment after birth and developed severe infection and sepsis, which confirmed the presence of multiple intestinal atresia with combined immune deficiency. Our case suggests an association between meconium peritonitis and the gene deficiency, indicating the possibility of severe intestinal defects and immune deficiencies after birth and guiding subsequent fetal treatment choices.
PubMed: 38292879
DOI: 10.1177/2050313X241227129 -
Neonatology 2024A large proportion of postoperative mortality after pediatric surgery occurs among neonates with specific high-risk diagnoses. The extent to which there is...
INTRODUCTION
A large proportion of postoperative mortality after pediatric surgery occurs among neonates with specific high-risk diagnoses. The extent to which there is hospital-level mortality variation among patients with these diagnoses and whether this variation is associated with differences in failure to rescue (FTR) is unclear.
METHODS
The Pediatric Health Information System® database (2012-2020) was used to identify patients who underwent surgery for eight high-risk neonatal diagnoses: gastroschisis; volvulus; necrotizing enterocolitis; intestinal atresia; meconium peritonitis; tracheoesophageal fistula; congenital diaphragmatic hernia; and perinatal intestinal perforation. Hospitals were stratified into tertiles of reliability-adjusted inpatient mortality rates (lower than average mortality - tertile 1 [T1]; higher than average mortality - tertile 3 [T3]). Multivariable hierarchical regression was used to evaluate the association between hospital-level, reliability-adjusted mortality and FTR.
RESULTS
Overall, 20,838 infants were identified across 48 academic, pediatric hospitals. Adjusted hospital mortality rates ranged from 4.0% (95% CI, 0.0-8.2) to 16.3% (12.2-20.4). Median case volume (range, 80-1,238) and number of NICU beds (range, 24-126) were not significantly different across hospital tertiles. Compared to the hospitals with the lowest postoperative mortality (T1), the odds of FTR were significantly higher in hospitals with the highest (T3) postoperative mortality (odds ratio 1.97 [1.50-2.59]).
CONCLUSIONS
Significant variation in neonatal hospital mortality for high-risk diagnoses does not appear to be explained by hospital structural characteristics. Rather, difference in FTR suggests quality improvement interventions targeting early recognition and management of postoperative complications could improve surgical quality and safety for high-risk neonatal care.
Topics: Infant; Humans; Child; Infant, Newborn; Reproducibility of Results; Hospitals; Postoperative Complications; Hospital Mortality; Quality Improvement; Retrospective Studies
PubMed: 37844560
DOI: 10.1159/000533825