Epidemiology and Regional Variation in Additional Surgical Interventions for Children with Congenital Diaphragmatic Hernia: A Multi-institutional Analysis.

OBJECTIVE: To determine practice variation in surgical management of co-morbidities in pediatric patients with Congenital Diaphragmatic Hernia (CDH). BACKGROUND: A higher percentage of CDH patients are surviving to discharge, accompanied by an increase in morbidity requiring surgical interventions such as tracheostomy and gastrostomy tube insertion. The frequency, trends, and regional variations in operative management of these co-morbidities in this population are unclear. METHODS: Neonates who underwent CDH repair between 2012-2022 in the United States Pediatric Health Information System database were identified. Multivariable regression identified predictive factors for additional surgical morbidity after CDH repair, defined by an additional surgical intervention during index hospitalization or within one year after discharge. To narrow the spectrum of severity of disease, only patients with an intensive care unit admission on index hospitalization were included. Secondary analysis compared frequency of operations and hospital resource utilization by region. RESULTS: 4003 patients underwent CDH repair and were discharged from their index hospitalization. 1939 (48%) underwent at least one additional surgical procedure after the index CDH repair. Most performed surgeries were gastrostomy tube (28%), fundoplication (13%), and tracheostomy (5%). Covariates associated with additional surgical morbidity included: prematurity (OR 1.38; 95% CI: 1.20-1.59), cardiac co-morbidity (OR 1.31; 95% CI: 1.14-1.49), and chromosomal anomalies (OR 1.76, 95% CI: 1.30-2.40). Northeast (OR: 2.43; CI 1.42-3.52), Midwest (OR 2.11; 95% CI: 1.45-3.07), and South (OR 1.45, 95% CI 1.02-2.12) regions were associated with additional surgical morbidity. Patients who required additional surgical procedures had longer initial inpatient length of stays (71 versus 31 d) and higher associated costs ($357,000 versus $161,000). CONCLUSIONS: Surgical morbidity exists in CDH patients after initial CDH repair. Counseling families on these outcomes is important in establishing expectations for management. Establishing guidelines for optimal surgical management will require continued reporting from multi-institutional studies.

Robotic-assisted laparoscopic Malone appendicostomy: a 6-year perspective.

PURPOSE: A robotic-assisted laparoscopic approach to appendicostomy offers the benefits of a minimally invasive approach to patients who would typically necessitate an open procedure, those with a larger body habitus, and those requiring combined complex colorectal and urologic reconstructive procedures. We present our experience performing robotic-assisted appendicostomies with a focus on patient selection, perioperative factors, and functional outcomes. METHODS: A retrospective review of patients who underwent a robotic-assisted appendicostomy/neoappendicostomy at our institution was performed. RESULTS: Twelve patients underwent robotic-assisted appendicostomy (n = 8) and neoappendicostomy (n = 4) at a range of 8.8-25.8 years. Five patients had a weight percentile > 50% for their age. Seven patients underwent combined procedures. Median operative time for appendicostomy/neoappendicostomy only was 185.0 min. Complications included surgical site infection (n = 3), stricture requiring minor operative revision (n = 2), conversion to an open procedure due to inadequate appendiceal length (prior to developing our technique for robotic neoappendicostomies; n = 1), and granuloma (n = 1). At a median follow-up of 10.8 months (range 1.7-74.3 months), 91.7% of patients were consistently clean with antegrade enemas. DISCUSSION: Robotic-assisted laparoscopic appendicostomy and neoappendicostomy with cecal flap is a safe and effective operative approach. A robotic approach can potentially overcome the technical difficulties encountered in obese patients and can aid in patients requiring both a Malone and a Mitrofanoff in a single, combined minimally invasive procedure.

Influence of Initial Treatment Strategy on Outcomes for Children With Rectal Prolapse.

OBJECTIVE: Pediatric rectal prolapse is a common and often self-limited condition with multiple management options. Selecting the optimal approach requires personalization and remains a challenge for pediatricians and pediatric surgeons. METHODS: A single-center retrospective review of 67 children with rectal prolapse undergoing surgical evaluation between 2010 and 2021. Patients with anorectal malformations, Hirschsprung disease, inflammatory bowel disease, and cystic fibrosis were excluded. We used multivariable logistic regression to compare medical management, sclerotherapy, and surgical correction (rectopexy or transanal resection) as initial treatment strategies, with a primary endpoint of prolapse resolution. RESULTS: Younger patients (<5 years) were more likely to be initially treated with medical management alone (P < 0.001). Patients with a psychiatric diagnosis were more likely to be offered either sclerotherapy or surgery upfront (P = 0.009). The resolution rate with surgery as initial management was 79% (n = 11/14). The resolution rate with sclerotherapy as initial management was 54% (n = 13/24), with 33% (n = 8/24) resolving with sclerotherapy alone and 21% (n = 5/24) resolving after a subsequent surgical procedure (P = 0.011). Patients who underwent initial surgical management had an adjusted odds ratio of 8.0 (95% CI: 1.1-59.1; P = 0.042) for resolution of prolapse compared to patients who underwent sclerotherapy initially. Markers of severity (bleeding, need for manual reduction) were not associated with initial therapy offered (P = 0.064). CONCLUSIONS: Surgical intervention (sclerotherapy, rectopexy, transanal resection) resolved rectal prolapse in most children (63%). Surgery as an initial management approach had a significantly higher success rate than sclerotherapy, even after controlling for severity of disease, psychiatric diagnosis, need for manual reduction, and age.

Long-Term Functional Outcomes at 1-Year After Hospital Discharge in Critically Ill Neonates With Congenital Diaphragmatic Hernia.

OBJECTIVES: Congenital diaphragmatic hernia (CDH) is a birth defect associated with long-term morbidity. Our objective was to examine longitudinal change in Functional Status Scale (FSS) after hospital discharge in CDH survivors. DESIGN: Single-center retrospective cohort study. SETTING: Center for comprehensive CDH management at a quaternary, free-standing children's hospital. PATIENTS: Infants with Bochdalek CDH were admitted to the ICU between January 2009 and December 2019 and survived until hospital discharge. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: One hundred forty-two infants (58% male, mean birth weight 3.08 kg, 80% left-sided defects) met inclusion criteria. Relevant clinical data were extracted from the medical record to calculate FSS (primary outcome) at hospital discharge and three subsequent outpatient follow-up time points. The median (interquartile range [IQR]) FSS score at hospital discharge was 8.0 (7.0-9.0); 39 patients (27.5%) had at least moderate impairment (FSS ≥ 9). Median (IQR) FSS at 0- to 6-month ( n = 141), 6- to 12-month ( n = 141), and over 12-month ( n = 140) follow-up visits were 7.0 (7.0-8.0), 7.0 (6.0-8.0), and 6.0 (6.0-7.0), respectively. Twenty-one patients (15%) had at least moderate impairment at over 12-month follow-up; median composite FSS scores in the over 12-month time point decreased by 2.0 points from hospital discharge. Median feeding domain scores improved by 1.0 (1.0-2.0), whereas other domain scores remained without impairment. Multivariable analysis demonstrated right-sided, C- or D-size defects, extracorporeal membrane oxygenation use, cardiopulmonary resuscitation, and chromosomal anomalies were associated with impairment. CONCLUSIONS: The majority of CDH survivors at our center had mild functional status impairment (FSS ≤ 8) at discharge and 1-year follow-up; however, nearly 15% of patients had moderate impairment during this time period. The feeding domain had the highest level of functional impairment. We observed unchanged or improving functional status longitudinally over 1-year follow-up after hospital discharge. Longitudinal outcomes will guide interdisciplinary management strategies in CDH survivors.

Saving the perineal body-A modification of the posterior sagittal anorectoplasty.

BACKGROUND: Wound dehiscence of the anocutaneous anastomosis and/or reconstructed perineal body is a feared perioperative complication after posterior sagittal anorectoplasty (PSARP). Dehiscence of the perineal body can have long-term negative implications for fecal continence, sexual intimacy, obstetrical outcomes, and the need for reoperative surgery. We describe a modification to the traditional PSARP for repair of an imperforate anus with a rectovestibular, perineal, or absent fistula by sparing the perineal body, eliminating postoperative perineal body dehiscence and potentially improving long-term functional outcomes. METHODS: A retrospective review of female patients with a rectovestibular, perineal, or absent fistula who underwent PSARP with sparing of the perineal body was performed. RESULTS: Six patients underwent PSARP with sparing of the perineal body between 2019 and 2022. There were no perioperative complications. At follow-up, all patients are having regular bowel function without difficulty and have an excellent appearance of their perineal body. CONCLUSIONS: PSARP for a rectovestibular, perineal, or absent fistula can be safely performed with a more limited incision to avoid disruption of the perineal body. This eliminates the need for perineal body reconstruction during the procedure, thereby preventing wound dehiscence. Given the significant long-term adverse sequelae of wound dehiscence and resultant inadequate perineal body, we believe this modification to the PSARP warrants strong consideration.

Safety of delayed surgical repair of omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in infants with significant comorbidities.

PURPOSE: Management of infants with OEIS complex is challenging and not standardized. Expeditious surgery after birth has been recommended to limit soilage of the urinary tract and optimize intestinal function. However, clinical instability secondary to comorbidities is common in this population and early operation carries risk. We sought to define the risk/benefit profile of delaying repair. METHODS: All newborn patients with OEIS managed by our institution between Sep 2017 and Oct 2019 were reviewed. Comorbidities were evaluated, including cardiopulmonary pathologies and associated malformations. RESULTS: Ten patients with OEIS were managed. Patients underwent early (2 patients, repair at 0-2 days) or delayed (6 patients, repair at 6-87 days) first-stage exstrophy repair. Two patients died prior to repair (progressive respiratory failure, severe genetic anomalies). Repairs were delayed secondary to cardiac conditions, neurosurgical interventions, medical disease, and/or delayed transfer. Delayed repair patients had longer lengths of stay and use of parenteral nutrition. No patients experienced urinary tract infections prior to repair. CONCLUSIONS: Delaying first-stage exstrophy repair to allow physiologic optimization is safe. All repaired patients were discharged home, without parenteral nutrition or supplemental oxygen.

Intramuscular fast-flow vascular anomaly contains somatic MAP2K1 and KRAS mutations.

BACKGROUND: The term "intramuscular hemangioma capillary type" (IHCT) refers to a fast-flow vascular lesion that is classified as a tumor, although its phenotype overlaps with arteriovenous malformation (AVM). The purpose of this study was to identify somatic mutations in IHCT. METHODS: Affected tissue specimens were obtained during a clinically indicated procedure. The diagnosis of IHCT was based on history, physical examination, imaging and histopathology. Because somatic mutations in cancer-associated genes can cause vascular malformations, we sequenced exons from 446 cancer-related genes in DNA from 7 IHCT specimens. We then performed mutation-specific droplet digital PCR (ddPCR) to independently test for the presence of a somatic mutation found by sequencing and to screen one additional IHCT sample. RESULTS: We detected somatic mutations in 6 of 8 IHCT specimens. Four specimens had a mutation in MAP2K1 (p.Q58_E62del, p.P105_I107delinsL, p.Q56P) and 2 specimens had mutations in KRAS (p.K5E and p.G12D, p.G12D and p.Q22R). Mutant allele frequencies detected by sequencing and confirmed by ddPCR ranged from 2 to 15%. CONCLUSIONS: IHCT lesions are phenotypically similar to AVMs and contain the same somatic MAP2K1 or KRAS mutations, suggesting that IHCT is on the AVM spectrum. We propose calling this lesion "intramuscular fast-flow vascular anomaly."

Signaling pathways and inhibitors of cells from patients with kaposiform lymphangiomatosis.

BACKGROUND: Kaposiform lymphangiomatosis (KLA) is a rare lymphatic anomaly with significant morbidity and mortality. KLA is characterized by diffuse multifocal lesions comprised of focal areas of "kaposiform" spindled cells accompanying malformed lymphatic channels. The goal of this study was to identify activated signaling pathways in cells isolated from three KLA patients for the purpose of testing new therapies. PROCEDURE: Cells were obtained from the lungs of one patient isolated at autopsy and the spleen of two patients removed in surgery due to disease complications. A protein kinase array was performed on the KLA cell lysates and normal lymphatic endothelial cells. RESULTS: Higher activation of key signaling pathways in the KLA cells, including PRAS40, AKT1/2/3, and ERK-1/2, was identified by protein kinase array and confirmed by Western blot analysis. This indicated a role for highly activated PI3K-AKT and MAPK-ERK-1/2 signaling pathways in KLA cells. Cell proliferation studies assessed PI3K inhibitors (LY294002; BYL719), AKT inhibitor ARQ092, mTOR inhibitor rapamycin, and MAPK inhibitor U0126. These studies demonstrated that PI3K-AKT-mTOR and MAPK signaling are important mediators of KLA cell proliferation. BYL719 and rapamycin were more effective at inhibiting KLA cell proliferation than U0126. CONCLUSIONS: Our studies using cells from KLA patient lesions demonstrate that these cells are highly proliferative and the PI3K-AKT-mTOR and MAPK pathways are promising therapeutic targets. Development and clinical trials of PI3K, AKT, and MAPK inhibitors for cancer treatment and the data in this study lend support for early clinical trials assessing the efficacy of these inhibitors in KLA patients.

Contrast-Enhanced Colosonography for the Evaluation of Children With an Imperforate Anus.

This case series describes a novel method for showing the preoperative anatomy of children with anorectal malformations using ultrasound contrast, which we have termed "contrast-enhanced colosonography (ceCS)." Six patients with anorectal malformations without a perineal fistula were studied both by fluoroscopic distal colostography and ceCS, and their results were confirmed surgically. Contrast-enhanced CS precisely showed the complex anatomic relationships in all cases. Compared to traditional fluoroscopic studies, ceCS has the benefit of no associated ionizing radiation and thus is safer for children.

Proliferative Cells From Kaposiform Lymphangiomatosis Lesions Resemble Mesenchyme Stem Cell-like Pericytes Defective in Vessel Formation.

Kaposiform lymphangiomatosis (KLA) is a vascular anomaly featuring lymphatic expansion. It has no known cause, no effective treatment, and is associated with high morbidity. Proliferative cells from 3 KLA patient lesions were characterized relative to adiopose-derived mesenchyme stem cells (ADSCs) and cells derived from a patient with the related disease kaposiform hemangioendothelioma (KHE). KLA cells variably expressed markers of mesenchyme stem cells (CD73, CD90, CD105, CD146) and lacked endothelial cell markers (CD31, CD34) as determined by flow cytometry. They expressed markers of vascular pericytes (neural/glial antigen 2, alpha-smooth muscle actin, platelet-derived growth factor-beta receptor, and CXCL12) as determined by quantitative reverse transcription polymerase chain reaction. Lesion cells transcribed vascular markers VEGFC and VEGFD, as well as VCAM-1, the latter of which was confirmed by flow cytometry, consistent with angiogenic MSC-like pericytes. Furthermore, conditioned medium from each was shown to promote the proliferation of growth factor-starved lymphatic endothelial cells. Unlike kaposiform hemangioendothelioma-derived MSC-like pericytes and ADSCs, KLA isolates were defective in support of vascular network formation in co-cultures with either vascular or lymphatic endothelial cells. Genetic analysis by whole exome sequencing revealed novel variant alleles in 2 populations of KLA cells (BAD, TSC1) that may bear on aberrant pericyte growth and function.

Activating PIK3CA alleles and lymphangiogenic phenotype of lymphatic endothelial cells isolated from lymphatic malformations.

Lymphatic malformations (LMs) are developmental anomalies of the lymphatic system associated with the dysmorphogenesis of vascular channels lined by lymphatic endothelial cells (LECs). Seeking to identify intrinsic defects in affected LECs, cells were isolated from malformation tissue or fluid on the basis of CD31 and podoplanin (PDPN) expression. LECs from five unrelated LM lesions were characterized, including cells derived from one patient previously diagnosed with CLOVES. CLOVES-related LECs carried a known, activating mutation in PIK3CA (p.H1047L), confirmed by direct sequencing. Activating PIK3CA mutations (p.E542K and p.E545A) were identified in lesion-derived cells from the other four patients, also by direct sequencing. The five LM-LEC cultures shared a lymphangiogenic phenotype distinguished by PI3K/AKT activation, enhanced sprouting efficiency, elevated VEGF-C expression and COX2 expression, shorter doubling times and reduced expression of angiopoietin 2 and CXCR4. Nine additional LM-LEC populations and 12 of 15 archived LM tissue samples were shown to bear common PIK3CA variants by allele-specific PCR. The activation of a central growth/survival pathway (PI3K/AKT) represents a feasible target for the non-invasive treatment of LMs bearing in mind that background genetics may individualize lesions and influence treatments.

Long-term outcome for kaposiform hemangioendothelioma: A report of two cases.

Kaposiform hemangioendothelioma (KHE) is a rare aggressive vascular tumor of skin and deep soft tissues that typically presents in infancy and may be associated with a potentially life-threatening coagulopathy known as Kasabach-Merrit phenomenon (KMP). Recent advances in medical therapy have successfully treated many patients. However, our knowledge regarding the natural history of these lesions and optimum surveillance strategies remains rudimentary. We report two young women who had KHE with KMP treated in infancy and presented in adolescence with comorbidities related to their KHE tumor. This presentation supports the need for long-term surveillance in these patients.

Response of Blue Rubber Bleb Nevus Syndrome to Sirolimus Treatment.

BACKGROUND: Blue rubber bleb nevus syndrome (BRBNS) is a rare multifocal venous malformation syndrome involving predominantly the skin and gastrointestinal tract. Traditional treatment modalities include corticosteroids, interferon-α, sclerotherapy, and aggressive surgical resection. Sirolimus has been used in several single case reports. PROCEDURE: We performed a single-institution retrospective review of four children with BRBNS, who received sirolimus as part of their treatment regimens. A diagnosis of BRBNS was based on clinical, radiologic, and pathologic criteria. RESULTS: Median age was 6.5 years (range: 2-16 years). Pathologic evaluations revealed a combined malformation with venous and lymphatic components. The novel finding of a lymphatic component was confirmed with PROX-1 immunostaining. Patients received oral sirolimus with target drug levels between 10 and 13 ng/ml. Responses to treatment were defined as stabilization/decrease in size of lesions; resolution of transfusion requirements; reduction in pain, and improvement in quality of life (QOL). Median time to response was 1.5 months (SD ± 0.96 month, range: 1-3 months). Median follow-up was 21 months (range: 18-26 months). Lesion size and characteristics improved in all patients. All patients reported decrease in pain and improvement in QOL. All three patients requiring transfusions became transfusion-independent. One patient had resolution of coagulopathy. Adverse effects of sirolimus consisted of mucositis in three patients and neutropenia in one patient. CONCLUSIONS: Sirolimus is safe and efficient for the treatment of BRBNS. Further prospective studies are needed to evaluate the long-term effectiveness of this drug. This is the first report that identifies a lymphatic component as part of BRBNS.

Health-Related Quality of Life and Parental Stress in Children With Fecal Incontinence: A Normative Comparison.

OBJECTIVE: The aim of the present study was to describe the quality of life and parenting stress associated with a child with fecal incontinence (FI). METHODS: Female caregivers (n = 170) of children of 3 to 12 years age with FI completed a broad and general measure of quality of life and a measure of parenting stress. Results were compared with proxy reports for a normative sample of healthy children. RESULTS: Caregivers of children with FI reported significantly impaired quality of life for their children and increased parenting stress in all of the respective domains relative to healthy controls. Impairments reported by caregivers were large in magnitude. Similarly, rates of parenting stress were at or greater than the 98th percentile for caregivers of children with FI. CONCLUSIONS: Children with fecal incontinence and their families are in need of interventions targeting their quality of life and the stress associated with caregiving. FI appears to be particularly stressful for caregivers who may be in need of support beyond medical management of their child's bowel. Moreover, additional refinements in disease-specific quality of life assessment are needed in this population. Such refinement would allow for more precise measurement of the quality of life processes that are unique to FI.

Anorectal malformation without fistula: a defect with unique characteristics.

INTRODUCTION: Anorectal malformations (ARMs) without fistula occur in approximately 5 % of all cases of ARM. The high frequency of Trisomy 21 associated to this type of malformation has been previously described. A review of the literature revealed only one previous publication discussing ARM without fistula with or without Trisomy 21; all other publications focused their discussion in patients with Trisomy 21. We felt that ARM without fistula has very specific characteristics and therapeutic implications that deserved a special discussion, which prompted us to review our experience. METHODS: A retrospective review of the medical records of patients with ARM without fistula was performed between September 1980 and March 2014. From a series of 2,189 cases of ARMs, 92 had no fistula identified. Information related to demographic, anatomic, and prognostic factors, as well as outcome variables was obtained and compared to those results obtained from other types of ARMs. RESULTS: Seventy-six patients were males and 16 females. Thirty-seven patients (40 %) had Trisomy 21. Eighty-six patients were primarily operated on and six had a reoperation after a failed attempted repair at another institution. Of the six patients that were reoperated, five had an attempted repair in the newborn period without a colostomy and the operation was aborted after the rectum could not be found. The location of the blind rectum was at the level of the bulbar urethra in males or 1-2 cm from the perineal skin in females in 80 patients; and in 9 patients it was found at the level of the prostatic urethra. In five patients, during the repair, there was an incidental opening of the urethra, which was repaired with uneventful recovery. The sacrum was normal in 61 patients; 4 patients had a sacral ratio <0.4, which indicated poor prognosis for fecal continence. Sixty-four patients had normal urinary tract, four patients had an absent kidney, ten had bilateral hydronephrosis, and three unilateral. Long-term outcomes related to bowel control were available in 52 cases: 11 of 18 patients with Trisomy 21(61 %) had voluntary bowel movements and 29 of 34 (85 %) without Trisomy 21 had voluntary bowel movements. All patients without Trisomy 21 had urinary control. CONCLUSION: Anorectal malformation without fistula is a unique defect. In our series, it occurs in 4 % of all ARMs. Even when patients do not have a fistula, the operation is not technically easier due to the presence of an extensive common wall between the rectum and urethra in males or vagina in females. The ARM with no fistula has a good reasonable functional prognosis, even in patients with associated Trisomy 21 and conveys a low frequency of associated urologic defects.

Esophageal atresia in patients with anorectal malformations.

PURPOSE: The presence of esophageal atresia (EA) in patients with an anorectal malformation (ARM) is well known. The purpose of this work is to find out the most common type of ARM associated to EA and the functional prognostic implication of this association, which has not been described in previous publications. METHODS: We reviewed our database for demographic, functional, and associated anomalies data in our patients with EA and ARM, and then compared them with those of our general series of ARM without esophageal atresia. RESULTS: Out of 1,995 ARM patients, 167 had a concomitant EA (8.3 %). Prostatic fistula was the most common type of defect in the male EA patients (45.9 %) and cloacas were on the female group (57.9 %). EA patients had worse bowel (47 vs. 67 %) and urinary control (56.6 vs. 79.4 %) when compared to the general series (GS). Functional prognosis was significantly worse in cloacas and in patients subjected to re-operations (p < 0.001). EA patients had a 0.52 average sacral ratio and in the GS was 0.65 (p < 0.001). EA patients had a significantly higher incidence of tethered cord (32.3 vs. 17.6 %), cardiac anomalies (32.3 vs. 22.5 %) including VSD (12.5 vs. 4.5 %), hydronephrosis (36.5 vs. 15.4 %), absent kidney (26.3 vs. 10.5 %), duodenal atresia (7.7 vs. 1.7 %), vertebral anomalies (28.1 vs. 14 %), extremity defects (11.3 vs. 3.1 %), tracheal anomalies (6.5 vs. 0.4 %), and developmental delay (5.9 vs. 1.4 %). CONCLUSIONS: The presence of esophageal atresia in ARM patients has a significant, probably coincidental, impact on bowel and urinary control. This association is also related with worse types of ARM defects and with more severe associated anomalies. This association should increase the awareness on the provider in terms of what to expect on functional prognosis and a throughout search for associated anomalies.

Late Diagnosis of Hirschsprung Disease: Clinical Presentation and Long-Term Functional Outcomes.

PURPOSE: Hirschsprung Disease (HD) is typically diagnosed in the neonatal period. A small subset of patients have a prolonged course of abdominal distention and constipation prior to diagnosis. Late HD is defined as having been diagnosed at greater than or equal to one year of age. The literature is limited and offers conflicting data on the implications of a late diagnosis. We aim to investigate the presentation, operative approach, and functional outcomes of a large cohort of patients with a late HD diagnosis. METHODS: All patients with a late diagnosis of HD (after 1 year of age) at our institution between 1997 and 2021 were included. RESULTS: Twenty-eight patients were diagnosed with HD at a median age of 3.4 years. Chronic constipation, failure to thrive, and enterocolitis occurred in 100 %, 31 %, and 14 %, respectively. All patients underwent contrast enema and biopsies during their workup, identifying primarily rectosigmoid disease (n = 27) and total colonic aganglionosis (n = 1). Surgical intervention was performed in 27 patients, with 4 patients (15 %) needing a stoma (3 with plan for staged pull-through, 1 long-term stoma) and 23 patients (85 %) undergoing a single-stage pull-through. Postoperative complications included Hirschsprung-associated enterocolitis (n = 5), ostomy prolapse and revision (n = 2), abdominal distention requiring ileostomy creation (n = 2), redo pull-through (n = 2), retroperitoneal hematoma (n = 1), and cecostomy tube placement (n = 1). At a median follow-up of 5.4 years, 83 % of eligible patients achieved fecal continence with 43 % needing laxatives for persistent constipation. CONCLUSION: Recognizing a late presentation of HD requires a high index of suspicion. Patients with a late diagnosis did not experience an increased rate of permanent stoma, complications, or redo surgery compared to rates reported for the larger HD population. Similar long-term functional outcomes were achieved compared to the larger HD population. LEVEL OF EVIDENCE: IV.

Updates on the Care of Cloacal Exstrophy.

Cloacal exstrophy is the most severe congenital anomaly of the exstrophy-epispadias complex and is characterized by gastrointestinal, genitourinary, neurospinal, and musculoskeletal malformations. Individualized surgical reconstruction by a multidisciplinary team is required for these complex patients. Not infrequently, patients need staged surgical procedures throughout childhood and adolescence. Following significant improvements in medical care and surgical reconstructive techniques, nearly all patients with cloacal exstrophy now survive, leading to an increased emphasis on quality of life. Increased attention is given to gender identity and the implications of reconstructive decisions. Long-term sequelae of cloacal exstrophy, including functional continence and sexual dysfunction, are recognized, and many patients require ongoing complex care into adulthood.

Mediastinal Shift Index: A Novel Postnatal Measurement of Mediastinal Movement that Predicts Survival in Neonates With Congenital Diaphragmatic Hernia on Extracorporeal Membrane Oxygenation.

PURPOSE: Mediastinal position varies in neonates with congenital diaphragmatic hernia (CDH), reflecting contralateral shift due to mass effect. We aimed to create and validate a postnatal measurement of mediastinal positioning using chest radiographs in neonates with CDH who require extracorporeal membrane oxygenation. METHODS: Chart review identified neonates with CDH who required veno-arterial extracorporeal membrane oxygenation between 2017 and 2022. Mediastinal shift index (MSI) is the ratio of the distance between the venous cannula tip and the contralateral chest wall divided by the total width of the contralateral hemithorax. Three raters completed MSI measurements at designated timepoints: after cannulation, post- CDH repair, and immediately before decannulation. Intraclass correlation coefficients (ICC) assessed inter-rater agreement. Initial MSI and observed/expected lung head ratio (O/E LHR) were correlated and compared between survivors and non-survivors. Receiver operative characteristic (ROC) curve analysis evaluated the ability of MSI and O/E LHR to predict survival. RESULTS: 38 neonates were included. MSI demonstrated excellent agreement (ICC>0.98) amongst raters. Initial MSI and O/E LHR had a moderate positive correlation (Spearman correlation = 0.47, p = 0.014). Initial MSI differed significantly between survivors and non-survivors (0.52 vs. 0.33, p = 0.035) as did O/E LHR (0.36 vs. 0.26, p = 0.036). ROC analysis revealed initial MSI >0.35 was predictive of survival with 73% sensitivity and 70% specificity. CONCLUSION: Mediastinal shift index is reliable and predicted survival with a higher specificity than O/E LHR. Future studies will elucidate the role of trending MSI over a patient's course to inform interventions to optimize mediastinal position.

Disparities in Healthcare Utilization: An Analysis of Disease Specific and Patient Level Factors in a Congenital Diaphragmatic Hernia Clinic.

OBJECTIVES: Our study examines if the disease severity profile of our Congenital Diaphragmatic Hernia (CDH) patient cohort adherent to long-term follow-up differs from patients lost to follow-up after discharge and examines factors associated with health care utilization. METHODS: Retrospective review identified CDH survivors born 2005-2019 with index repair at our institution. Primary outcome was long-term follow-up status: "active" or "inactive" according to clinic guidelines. Markers of CDH disease severity including CDH defect classification, oxygen use, tube feeds at discharge, and sociodemographic factors were examined as exposures. RESULTS: Of the 222 included patients, median age [IQR] was 10.2 years [6.7-14.3], 61% male, and 57 (26%) were insured by Medicaid. Sixty-three percent (139/222) of patients were adherent to follow-up. Seventy-six percent of patients discharged on tube feeds had active follow-up compared to 55% of patients who were not, with similar findings for oxygen at discharge (76% vs. 55%). Kaplan-Meier analysis showed patients with smaller defect size had earlier attrition compared to patients with larger defect size. Other race (Hispanic, Asian, Middle Eastern) patients had 2.87 higher odds of attrition compared to white patients (95% CI 1.18-7.0). Medicaid patients had 2.64 higher odds of attrition compared to private insurance (95% CI 1.23-5.66). CONCLUSION: Loss to follow-up was associated with race and insurance type. Disease severity was similar between the active and inactive clinic cohorts. Long-term CDH clinic publications should examine attrition to ensure reported outcomes reflect the discharged population. This study identified important factors to inform targeted interventions for follow-up adherence. LEVEL OF EVIDENCE: Level III.