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.

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.

Does presence of a VACTERL anomaly predict an associated gynecologic anomaly in females with anorectal malformations?: A Pediatric Colorectal and Pelvic Learning Consortium Study.

Background: VACTERL association is defined by the presence of 3 or more anomalies in any of the following systems: vertebral, anorectal, cardiac, trachea-esophageal, renal, or limb. This study hypothesized that the presence of VACTERL association would correlate with an increased risk of gynecologic anomalies in patients with anorectal malformation (ARM).

Methods: This study is a cross-sectional, retrospective analysis from the prospectively collected, multicenter registry of the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC).

Kaposiform Lymphangiomatosis: Pathologic Aspects in 43 Patients.

Kaposiform lymphangiomatosis is an uncommon generalized lymphatic anomaly with distinctive clinical, radiologic, histopathologic, and molecular findings. Herein, we document the pathology in 43 patients evaluated by the Boston Children's Hospital Vascular Anomalies Center from 1999 to 2020. The most frequent presentations were respiratory difficulty, hemostatic abnormalities, and a soft tissue mass.

Technical Considerations in Primary Repair of a Congenital Prostatic Rectourethral Fistula in an Adult-Sized Patient.

Congenital anorectal malformations are generally diagnosed and repaired as a neonate or infant, but repair is sometimes delayed. Considerations for operative repair change as the patient approaches full stature. We recently encountered a 17-year-old male with an unrepaired congenital rectourethral fistula and detail our experience with his repair.

Pediatric hepatic vascular tumors.

Vascular liver tumors in the pediatric population can present a diagnostic dilemma. The most common hepatic vascular tumors are hepatic hemangiomas; however the differential diagnosis can also include other benign lesions and malignant masses. Management is unique to the type and nature of the specific lesion.

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.

A comparison of surgical complications after appendicostomy and neoappendicostomy in pediatric patients.

Purpose: There are limited data on neoappendicostomy complications owing to small patient populations. This study compares appendicostomy and neoappendicostomy procedures with an emphasis on major postoperative complications requiring either a surgical or interventional radiology procedure.

Method: A single-institution retrospective review included all patients with complete medical charts in the Cincinnati Children's Colorectal Database who underwent either an appendicostomy or neoappendicostomy from August 2005 through December 2016.

Preventing patient harm via adverse event review: An APSA survey regarding the role of morbidity and mortality (M&M) conference.

Introduction: Peer-review endeavors represent the continual learning environment critical for a culture of patient safety. Morbidity and mortality (M&M) conferences are designed to review adverse events to prevent future similar events. The extent to which pediatric surgeons participate in M&M, and believe M&M improves patient safety, is unknown.

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).

Reality check: What happens when patients with anorectal malformations grow up? A pilot study of medical care transition from the adult patient perspective.

Background: There has been an increased focus on transition of pediatric and adolescent patients to adult centered care. For patients with rare and complex conditions, such as anorectal malformations (ARM), difficulties are compounded by the absence of structured transition protocols and lack of adult provider expertise. We sought to explore the actual experiences of adult patients with ARM and distinguish if there are factors that influence the ability to achieve satisfactory transition to adult centered medical care.

Linkage of Metabolic Defects to Activated PIK3CA Alleles in Endothelial Cells Derived from Lymphatic Malformation.

Background: Lymphatic endothelial cells (LECs) derived from lymphatic malformations (LMs) bear activated PIK3CA alleles yet display an inflammatory gene expression profile. A basis for the inflammatory phenotype was sought by screening for coexisting somatic mutations.

Methods And Results: Fourteen independent LEC populations bearing activated PIK3CA alleles were isolated from LM.

The association of the severity of anorectal malformations and intestinal malrotation.

Introduction: Intestinal malrotation is a known association of anorectal malformations (ARM). Exact incidence, prognosis and surgical implications related to ARM are unknown. The aim of this study was to identify relevant associations between ARM and the presence of malrotation.

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.

Hepatic vascular tumors.

The most common hepatic vascular tumor in the pediatric population is the infantile hepatic hemangioma. Although these lesions have a spectrum of presentations, there are three main subtypes that have been described-focal, multifocal, and diffuse. An algorithm on the workup, treatment, and follow-up of these lesions can be based on this categorization.