Patient-reported outcomes of Children with an Anorectal Malformation.

Objective: We aimed to study the impact of anorectal malformation (ARM) type and sacral ratio on continence outcomes in children. We secondarily aimed to compare continence outcomes by age group and determine quality of life (QoL) with different bowel regimens.

Summary Background Data: Children with ARM experience dysfunctional stooling into adulthood.

Highly neurogenic glia from human and mouse myenteric ganglia generate functional neurons following culture and transplantation into the gut.

Enteric neural stem cell (ENSC) therapy offers great promise for neurointestinal diseases; however, current isolation methods yield insufficient neurons for regenerative applications. Multiomic profiling of enteric glial cells (EGCs) suggests that subpopulations within myenteric ganglia (MyGa) are a reservoir of highly neurogenic ENSCs. Here, we describe protocols to enrich for intraganglionic EGCs by isolating intact fragments of MyGa, generating cultures with higher neuronal purity than traditional methodologies isolating intramuscular single cells (IM-SCs).

Gut Analysis Toolbox - automating quantitative analysis of enteric neurons.

The enteric nervous system (ENS) consists of an extensive network of neurons and glial cells embedded within the wall of the gastrointestinal (GI) tract. Alterations in neuronal distribution and function are strongly associated with GI dysfunction. Current methods for assessing neuronal distribution suffer from undersampling, partly due to challenges associated with imaging and analyzing large tissue areas, and operator bias due to manual analysis.

A Novel Use of Embryonic Gut Organoid Culture to Investigate Duodenal Atresia.

Background: The cause of duodenal atresia (DA) is not known. Tandler's "solid cord" hypothesis conflicts with current biological evidence. In humans, a genetic aetiology is supported by the association with Trisomy 21.

Esophago-gastric junction findings on high resolution impedance manometry in children with esophageal atresia.

Objectives: Using high resolution impedance manometry (HRIM), this study characterized the esophago-gastric junction (EGJ) dynamics in children with esophageal atresia (EA).

Method: Esophageal HRIM was performed in patients with EA aged less than 18 years. Objective motility patterns were analyzed, and EGJ data reported.

Transition From Pediatric to Adult Healthcare for Colorectal Conditions: A Systematic Review.

Background: Despite surgical advances for complex congenital colorectal conditions, such as anorectal malformation (ARM) and Hirschsprung disease (HD), many adolescents require transfer from specialist pediatric to adult providers for ongoing care.

Methodology: A systematic review of PubMed, MEDLINE and Embase was conducted to identify what is known about the transitional care of patients with ARM and HD (PROSPERO # CRD42022281558). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) framework guided our reporting of studies that focused on the transition care of 10-30-year-olds with ARM and HD.

Exploring the Infectious Contribution to Intussusception Causality Using the Effects of COVID-19 Lockdowns in Australia: An Ecological Study.

Background: Intussusception is the primary cause of acute bowel obstruction in infants. The majority of cases <2 years of age are classed as idiopathic, with viral infection implicated as one of the causes. Coronavirus disease 2019 (COVID-19) public health measures led to significant decreases in communicable disease prevalence.

Developing a core outcome set for the health outcomes for children and adults with congenital oesophageal atresia and/or tracheo-oesophageal fistula: OCELOT task group study protocol.

Introduction: Heterogeneity in reported outcomes of infants with oesophageal atresia (OA) with or without tracheo-oesophageal fistula (TOF) prevents effective data pooling. Core outcome sets (COS) have been developed for many conditions to standardise outcome reporting, facilitate meta-analysis and improve the relevance of research for patients and families. Our aim is to develop an internationally-agreed, comprehensive COS for OA-TOF, relevant from birth through to transition and adulthood.

TRPV4 is expressed by enteric glia and muscularis macrophages of the colon but does not play a prominent role in colonic motility.

Background: Mechanosensation is an important trigger of physiological processes in the gastrointestinal tract. Aberrant responses to mechanical input are associated with digestive disorders, including visceral hypersensitivity. Transient Receptor Potential Vanilloid 4 (TRPV4) is a mechanosensory ion channel with proposed roles in visceral afferent signaling, intestinal inflammation, and gut motility.

Psychosocial Outcomes of Parents of Children with Hirschsprung Disease Beyond Early Childhood.

Purpose: The lifelong impact of Hirschsprung disease (HD) upon children and their families is increasingly well recognized. Parental psychosocial wellbeing and family functioning are determinants of psychological and health-related outcomes in children with chronic conditions. We performed a cross-sectional cohort study to evaluate the psychosocial functioning of parents/caregivers of children with HD, beyond early childhood.

The early years: hirschsprung disease and health-related quality of life.

Purpose: Chronic diseases are notorious in the way that they interfere with many aspects of a child's development, and this holds true for children with Hirschsprung disease (HD). The present research aims to (1) determine whether the health-related quality of life (HRQoL) of HD children differs from healthy paediatric populations; and (2) explore the relationship between HD children's HRQoL and psychosocial outcomes of parents.

Methods: Using a cross-sectional survey study design, children's HRQoL was assessed using the Pediatric Quality of Life Inventory (PedsQL), while parental psychosocial outcomes were measured using the Patient-Reported Outcomes Measurement Information System (PROMIS) anxiety and depression short-forms, Family Management Measure (FaMM), and Parent Experience of Child Illness.

A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance.

Patient registries serve to overcome the research limitations inherent in the study of rare diseases, where patient numbers are typically small. Despite the value of real-world data collected through registries, adequate design and maintenance are integral to data quality. We aimed to describe an overview of the challenges in design, quality management, and maintenance of rare disease registries.

Post-Operative Anorectal Manometry in Children following Anorectal Malformation Repair: A Systematic Review.

Despite surgical correction, children with anorectal malformations may experience long-term bowel dysfunction, including fecal incontinence and/or disorders of evacuation. Anorectal manometry is the most widely used test of anorectal function. Although considerable attention has been devoted to its application in the anorectal malformation cohort, there have been few attempts to consolidate the findings obtained.

A Quality Assessment of the ARM-Net Registry Design and Data Collection.

Background: Registries are important in rare disease research. The Anorectal Malformation Network (ARM-Net) registry is a well-established European patient registry collecting demographic, clinical, and functional outcome data. We assessed the quality of this registry through review of the structure, data elements, collected data, and user experience.

Screening for VACTERL Anomalies in Children with Anorectal Malformations: Outcomes of a Standardized Approach.

Purpose: The majority of patients with an anorectal malformation (ARM) have associated congenital anomalies. It is well established that all patients diagnosed with an ARM should undergo systematic screening, including renal, spinal, and cardiac imaging. This study aimed to evaluate the findings and completeness of screening, following local implementation of standardized protocols.

Preexisting neural factors that contribute to dysmotility in esophageal atresia: a systematic review.

Esophageal dysmotility in esophageal atresia (EA) relates to abnormal development of esophageal innervation and musculature and to the esophageal repair. Few studies have investigated the preexisting dysmotility in EA, present prior to surgery. This systematic review aims to summarize the literature on neuronal studies in EA, to understand the causative factors for esophageal dysmotility.

Advances in the Management of the Neonate Born with an Anorectal Malformation.

Anorectal malformations occur in 1 in 3000 to 5000 children, and present with a marked variety in type and severity. Most of the malformations are diagnosed in the early neonatal period, as an antenatal diagnosis remains relatively elusive. Following diagnosis, an accurate assessment and focused management is crucial to reduce the potential for morbidity and mortality.

Levobupivacaine plasma concentrations following repeat caudal anesthetics.

Aim: A single caudal anesthetic at the start of lower abdominal surgery is unlikely to provide prolonged analgesia. A second caudal at the end of the procedure extends the analgesia duration but total plasma concentrations may be associated with toxicity. Our aim was to measure total plasma levobupivacaine concentrations after repeat caudal anesthesia in infants and to generate a pharmacokinetic model for prediction of plasma concentrations after repeat caudal anesthesia in neonates, infants and children.

A Novel Method for Identifying the Transition Zone in Long-Segment Hirschsprung Disease: Investigating the Muscle Unit to Ganglion Ratio.

Hirschsprung disease (HSCR) is characterised by the absence of enteric ganglia along variable lengths of the distal bowel. Current gold standard treatment involves the surgical resection of the defective, aganglionic bowel. Clear and reliable distinction of the normoganglionated bowel from the transition zone is key for successful resection of the entire defective bowel, and the avoidance of subsequent postoperative complications.

Post-operative colonic manometry in children with anorectal malformations: A systematic review.

Background: Children with anorectal malformations may experience constipation and fecal incontinence following repair. The contribution of altered anorectal function to these persistent symptoms is relatively intuitive; however, colonic motility in this cohort is less well understood. Manometry may be used to directly assess colonic motility.

Perioperative opioid use in paediatric inguinal hernia patients: A systematic review and retrospective audit of practice.

Background: Opioids play a major role in postoperative pain management in children, but their administration remains an under investigated topic. This study aimed to describe perioperative opioid prescribing practices for paediatric inguinal hernia patients in the literature and at The Royal Children's Hospital (RCH) in Melbourne, Australia.

Material/method: A systematic review of English articles (published from 2009 to 2019) was conducted on paediatric (0-18y) inguinal hernia patients who received a postoperative or discharge opioid prescription, or both.

Post-operative anorectal manometry in children with Hirschsprung disease: A systematic review.

Background: Hirschsprung disease is commonly encountered by pediatric surgeons. Despite advances in the surgical management, these children may experience symptoms of bowel dysfunction throughout adulthood. Anorectal manometry may be used to assess post-operative anorectal structure and function.