Measuring Pectus Excavatum Severity, External Caliper, or Cross-Sectional Imaging: Family Perceptions.

INTRODUCTION: Patients with pectus excavatum (PE) often undergo cross-sectional imaging (CSI) to quantify severity for insurance authorization before surgical repair. The modified percent depth (MPD), an external caliper-based metric, was previously validated to be similar to the pectus index and correction index. This study explored family perceptions of CSI and MPD with respect to value and costs. METHODS: This is a cross-sectional survey study including families of patients enrolled in an ongoing prospective multicenter study evaluating the use of MPD as an alternative to CSI for quantifying PE severity. Families of PE patients who underwent both MPD and CSI completed a survey to determine their perceptions of MPD and costs of CSI. Responses were described and associations were evaluated using chi squared, Wilcoxon rank-sum test and logistic regression as appropriate. Statistical significance was set to 0.05. RESULTS: There were 136 surveys completed for a response rate of 88%. Respondents were confident in MPD (86%) and confident in its similarity to CSI (76%). Families of females were less confident in the measurements than males (55% versus 80%, P = 0.02; odds ratio 0.30 (0.11, 0.83). Obtaining CSI required time off work/school in 90% and a copay in 60%. Nearly half (49%) of respondents reported CSI was a time/financial hardship. Increasing copay led to decreased reassurance in CSI (55%: copay > $100 versus 77%: lower copay/75%: no copay; P = 0.04). CONCLUSIONS: From the family perspective, MPD is valuable in assessing the severity of PE. Obtaining CSI was financially burdensome, particularly for those with higher copays. MPD measurements provide high value at low cost in assessing the severity of PE.

Pediatric traumatic abdominal wall hernia as a component of the seatbelt syndrome: a case series and review of the literature.

BACKGROUND: Blunt impact-induced traumatic abdominal wall hernia (TAWH) is an uncommon pediatric surgical problem classically associated with handlebar injury but increasingly seen with seatbelt use in motor vehicle collisions (MVC). Herein we describe the largest case series of pediatric TAWH to date and review the literature to establish the unique syndromic characteristics of MVC-associated TAWH. METHODS: In this single-institution series, we discuss four pediatric patients, all with seatbelt-associated TAWH after high-speed MVC characterized by full-thickness disruption of the lateral abdominal wall. We then performed a review of the literature to identify additional pediatric MVC-associated TAWH and define the characteristics of patients who sustained this unique injury. RESULTS: In addition to the four patients in our case series, five additional pediatric patients presenting with TAWH after restrained MVC were identified in the literature. Of these nine patients, eight (89%) presented with an obvious seatbelt sign (bruising/laceration to the abdominal wall). Six (67%) had associated injuries typical of the seatbelt syndrome, including four spinal flexion injuries (44%) and five bowel injuries requiring repair or resection (56%). Overall, 56% of seatbelt-associated TAWH occurred in children with a BMI percentile > 95%. CONCLUSIONS: In this case series and literature review, we note a high rate of seatbelt syndrome injuries in pediatric patients presenting with TAWH after restrained MVC. Suspicion for TAWH should be high in children presenting with a seatbelt sign and should trigger a low threshold for pursuing additional axial imaging. LEVEL OF EVIDENCE: Level IV; case series.

Extrapulmonary sequestration with a left internal thoracic arterial feeding vessel in an infant treated with video-assisted Thoracoscopic resection: a case report.

BACKGROUND: Congenital lung malformations exist along a spectrum of pathogenesis and disease severity. Extrapulmonary sequestration (EPS), in which nonfunctional lung tissue develops without connection to the tracheobronchial tree, is one rare manifestation of this disease. Atypical vascular anatomy with a systemic feeding vessel characterizes these lesions. CASE PRESENTATION: A 3 day old, 37 week gestation infant underwent chest X-ray for confirmation of umbilical catheter placement and was found to have an elevated left hemidiaphragm consistent with eventration versus congenital diaphragmatic hernia. He remained asymptomatic and was evaluated as an outpatient at the age of 9 months, where CT angiogram demonstrated extrapulmonary versus intrapulmonary sequestration with a systemic feeding vessel from the left internal mammary artery. CONCLUSIONS: It is exceedingly rare for the feeding artery to arise from the internal mammary; two such cases have been reported to date, both in adult patients. Here we present a third case of EPS with arterial supply from the internal mammary successfully treated with video-assisted thoracoscopic resection in a 9 month old infant.

Extracorporeal cardiopulmonary resuscitation in a neonate after air embolism during insufflation for laparoscopic peritoneal dialysis catheter placement.

Laparoscopy is increasingly utilized in neonatal surgery with safe and effective outcomes. Air embolism from insufflation for pneumoperitoneum is a rare but known risk of laparoscopy. Here we present a rare case of air embolism during insufflation for laparoscopic peritoneal dialysis catheter placement treated with extracorporeal cardiopulmonary resuscitation.

Are Immune Modulating Single Nucleotide Polymorphisms Associated with Necrotizing Enterocolitis?

Necrotizing enterocolitis (NEC) is a devastating gastrointestinal emergency. The purpose of this study is to determine if functional single nucleotide polymorphisms (SNPs) in immune-modulating genes pre-dispose infants to NEC. After Institutional Review Board approval and parental consent, buccal swabs were collected for DNA extraction. TaqMan allelic discrimination assays and BglII endonuclease digestion were used to genotype specific inflammatory cytokines and TRIM21. Statistical analysis was completed using logistic regression. 184 neonates were analyzed in the study. Caucasian neonates with IL-6 (rs1800795) were over 6 times more likely to have NEC (p = 0.013; OR = 6.61, 95% CI 1.48-29.39), and over 7 times more likely to have Stage III disease (p = 0.011; OR = 7.13, (95% CI 1.56-32.52). Neonates with TGFß-1 (rs2241712) had a decreased incidence of NEC-related perforation (p = 0.044; OR = 0.28, 95% CI: 0.08-0.97) and an increased incidence of mortality (p = 0.049; OR = 2.99, 95% CI: 1.01 - 8.86). TRIM21 (rs660) was associated with NEC-related intestinal perforation (p = 0.038; OR = 4.65, 95% CI 1.09-19.78). In premature Caucasian neonates, the functional SNP IL-6 (rs1800795) is associated with both the development and increased severity of NEC. TRIM21 (rs660) and TGFß-1 (rs2241712) were associated with NEC- related perforation in all neonates in the cohort. These findings suggest a possible genetic role in the development of NEC.

Functional characterization of a putative aquaporin from Encephalitozoon cuniculi, a microsporidia pathogenic to humans.

The microsporidia are a group of obligate intracellular parasitic protists that have been implicated as both human and veterinary pathogens. The infectious process of these organisms is believed to be dependent upon the rapid influx of water into spores, presumably via aquaporins (AQPs), transmembrane channels that facilitate osmosis. An AQP-like sequence of the microsporidium Encephalitozoon cuniculi (EcAQP), when cloned and expressed in oocytes of Xenopus laevis, rendered these oocytes highly permeable to water. No permeability to the solutes glycerol or urea was observed. Pre-treatment of EcAQP-expressing oocytes with HgCl(2) failed to inhibit their osmotic permeability, as predicted from EcAQP's lack of mercury-sensitive cysteine residues near the NPA motifs which line the AQP aqueous pore. EcAQP exhibits sequence identity to AQP A of Dictyostelium discoideum (26%) and human AQP 2 (24%). Further study of AQPs in microsporidia and their potential inhibitors may yield novel therapeutic agents for microsporidian infections.