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BJS Open May 2024In recent decades, the survival of children with congenital anomalies and paediatric cancer has improved dramatically such that there has been a steady shift towards... (Review)
Review
BACKGROUND
In recent decades, the survival of children with congenital anomalies and paediatric cancer has improved dramatically such that there has been a steady shift towards understanding their lifelong health outcomes. Paediatric surgeons will actively manage such conditions in childhood and adolescence, however, adult surgeons must later care for these 'grown-ups' in adulthood. This article aims to highlight some of those rare disorders encountered by paediatric surgeons requiring long-term follow-up, their management in childhood and their survivorship impact, in order that the adult specialist may be better equipped with skills and knowledge to manage these patients into adulthood.
METHODS
A comprehensive literature review was performed to identify relevant publications. Research studies, review articles and guidelines were sought, focusing on the paediatric management and long-term outcomes of surgical conditions of childhood. The article has been written for adult surgeon readership.
RESULTS
This article describes the aforementioned conditions, their management in childhood and their lifelong implications, including: oesophageal atresia, tracheo-oesophageal fistula, malrotation, short bowel syndrome, duodenal atresia, gastroschisis, exomphalos, choledochal malformations, biliary atresia, Hirschsprung disease, anorectal malformations, congenital diaphragmatic hernia, congenital lung lesions and paediatric cancer.
CONCLUSION
The increasing survivorship of children affected by surgical conditions will translate into a growing population of adults with lifelong conditions and specialist healthcare needs. The importance of transition from childhood to adulthood is becoming realized. It is hoped that this timely review will enthuse the readership to offer care for such vulnerable patients, and to collaborate with paediatric surgeons in providing successful and seamless transitional care.
Topics: Humans; Child; Congenital Abnormalities; Neoplasms; Adult; Surgical Procedures, Operative
PubMed: 38776252
DOI: 10.1093/bjsopen/zrae028 -
Cell Biology and Toxicology May 2024Anorectal malformation (ARM) is a prevalent early pregnancy digestive tract anomaly. The intricate anatomy of the embryonic cloaca region makes it challenging for...
Anorectal malformation (ARM) is a prevalent early pregnancy digestive tract anomaly. The intricate anatomy of the embryonic cloaca region makes it challenging for traditional high-throughput sequencing methods to capture location-specific information. Spatial transcriptomics was used to sequence libraries of frozen sections from embryonic rats at gestational days (GD) 14 to 16, covering both normal and ARM cases. Bioinformatics analyses and predictions were performed using methods such as WGCNA, GSEA, and PROGENy. Immunofluorescence staining was used to verify gene expression levels. Gene expression data was obtained with anatomical annotations of clusters, focusing on the cloaca region's location-specific traits. WGCNA revealed gene modules linked to normal and ARM cloacal anatomy development, with cooperation between modules on GD14 and GD15. Differential gene expression profiles and functional enrichment were presented. Notably, protein levels of Pcsk9, Hmgb2, and Sod1 were found to be downregulated in the GD15 ARM hindgut. The PROGENy algorithm predicted the activity and interplay of common signaling pathways in embryonic sections, highlighting their synergistic and complementary effects. A competing endogenous RNA (ceRNA) regulatory network was constructed from whole transcriptome data. Spatial transcriptomics provided location-specific cloaca region gene expression. Diverse bioinformatics analyses deepened our understanding of ARM's molecular interactions, guiding future research and providing insights into gene regulation in ARM development.
Topics: Animals; Anorectal Malformations; Signal Transduction; Transcriptome; Rats; Female; Gene Regulatory Networks; Gene Expression Regulation, Developmental; Pregnancy; Embryo, Mammalian; Gene Expression Profiling; Computational Biology; Rats, Sprague-Dawley; Cloaca
PubMed: 38769159
DOI: 10.1007/s10565-024-09878-1 -
Journal of Pediatric and Adolescent... May 2024Mullerian duct anomalies are common in females with anorectal malformations (ARMs), although there are no universally recommended screening protocols for identification....
STUDY OBJECTIVE
Mullerian duct anomalies are common in females with anorectal malformations (ARMs), although there are no universally recommended screening protocols for identification. Historically, at our institution, we have recommended a screening pelvic ultrasound (PUS) 6 months after thelarche and menarche. We aimed to evaluate outcomes associated with our post-thelarche screening PUS in females with ARMs.
METHODS
An institutional review board-approved retrospective chart review was performed for all female patients 8 years old or older with ARMs and documented thelarche. Data were collected on demographic characteristics and clinical course. The primary outcome was adherence to the recommended PUS. Secondary outcomes included imaging correlation with suspected Mullerian anatomy and need for intervention on the basis of imaging findings.
RESULTS
A total of 112 patients met the inclusion criteria. Of them, 87 (77.7%) completed a recommended post-thelarche screening PUS. There were no differences in completion on the basis of age, race, establishment with a primary care provider, insurance status, or type of ARM. Nine patients (10.3%) had findings on their PUS that did not correlate with their suspected Mullerian anatomy; five (5.7%) required intervention, with two requiring menstrual suppression, two requiring surgical intervention, and one requiring further imaging.
CONCLUSION
Most patients completed the recommended post-thelarche screening PUS. In a small subset of patients, PUS did not correlate with suspected Mullerian anatomy and generated a need for intervention. Post-thelarche PUS can be a useful adjunct in patients with ARMs to identify gynecologic abnormalities.
PubMed: 38768703
DOI: 10.1016/j.jpag.2024.05.001 -
Journal of Pediatric Surgery Apr 2024Hirschsprung disease is a congenital intestinal motility disorder characterized by an absence of enteric ganglion cells. Total colonic aganglionosis and near total or...
BACKGROUND
Hirschsprung disease is a congenital intestinal motility disorder characterized by an absence of enteric ganglion cells. Total colonic aganglionosis and near total or total intestinal aganglionosis, defined as absence of ganglion cells in the entire colon and with variable length of small bowel involved, are life-threatening conditions which affect less than 10 % of all patients with Hirschsprung disease. The aim of this project was to develop clinical consensus statements within ERNICA, the European Reference Network for rare congenital digestive diseases, on four major topics: Surgical treatment of total colonic aganglionosis, surgical treatment of total intestinal aganglionosis, management of poor bowel function in total colonic and/or intestinal aganglionosis and long-term management in total colonic and or intestinal aganglionosis.
METHODS
A multidisciplinary panel of representatives from ERNICA centers was invited to participate. Literature was searched, using specified search terms, in Medline (ALL), Embase and Google Scholar. Abstracts were screened and full text publications were selected. The panel was divided in four groups that extracted data from the full text publications and suggested draft statements for each of the major topics. A modified Delphi process was used to refine and agree on the statements.
RESULTS
The consensus statement was conducted by a multidisciplinary panel of 24 participants from 10 European countries, 45 statements reached consensus after 3 Delphi-rounds. The availability of high-quality clinical evidence was limited, and most statements were based on expert opinion. Another 25 statements did not reach consensus.
CONCLUSIONS
Total colonic and total intestinal aganglionosis are rare variants of Hirschsprung disease, with very limited availability of high-quality clinical evidence. This consensus statement provides statements on the surgical treatment, management of poor bowel function and long-term management for these rare patients. The expert panel agreed that patients benefit from multidisciplinary and personalized care, preferably in an expert center.
TYPE OF STUDY
Clinical consensus statement.
LEVEL OF EVIDENCE
3a.
PubMed: 38763854
DOI: 10.1016/j.jpedsurg.2024.04.019 -
Journal of Pediatric Surgery Apr 2024Antegrade colonic enemas (ACE) can be an effective management option for defecation disorders and improve quality of life. Best practice regarding channel placement is...
PURPOSE
Antegrade colonic enemas (ACE) can be an effective management option for defecation disorders and improve quality of life. Best practice regarding channel placement is unclear and variation may exist around preferred initial type of channel, age at placement, and underlying diagnoses. We aimed to describe practice patterns and patient characteristics around ACE channel placement.
METHODS
We conducted a multicenter retrospective study of children with an ACE channel cared for at sites participating in the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) from 2017 to 2022. Kruskal-Wallis test was utilized to test the age at surgery by site with significance level of 0.05.
RESULTS
500 patients with ACE channel were included. 293 (58.6%) patients had their ACE procedure at a PCPLC center. The median age at surgery was 7.6 [IQR 5.3-11.0] years for the overall cohort and 8.1 [IQR 5.3-11.5] years for placement at PCPLC centers. For PCPLC centers, median age at placement varied significantly across centers (p = 0.009). 371 (74.2%) patients received Malone appendicostomy, 116 (23.2%) received cecostomy, and 13 (2.6%) received Neo-Malone appendicostomy. Median age of patients by channel type was 7.7 [IQR 5.3-11.0], 7.5 [IQR 5.7-11.0], and 9.8 [IQR 4.2-11.6] years, respectively. The most common indication for cecostomy was idiopathic/refractory constipation (52.6%), whereas anorectal malformation was the most common indication for Malone (47.2%) and Neo-Malone (61.5%). Among ACE channels placed at PCPLC centers, there was variation across institutions in preferred initial channel type. The 4 highest volume centers favored Malone appendicostomy over cecostomy.
CONCLUSION
There is variation in practice of ACE channel placement. At specialty pediatric colorectal centers, age at time of placement and type of channel placed varied across institutions. Further work is needed to better characterize diagnosis- and age-focused patient centered outcomes to clarify recommendations for our patients who benefit from these procedures.
TYPE OF STUDY
Retrospective comparative study.
LEVEL OF EVIDENCE
Level III.
PubMed: 38760309
DOI: 10.1016/j.jpedsurg.2024.04.009 -
The Journal of Pediatrics May 2024To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies,...
OBJECTIVE
To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies.
STUDY DESIGN
These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists.
RESULTS
After 2 Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement. 98% of panelists agreed with the diagnostic criteria, and 100% agreed the criteria would be useful in clinical practice. The diagnosis of LUMBAR requires the presence of a segmental, or patterned, infantile hemangioma of the lumbosacral, sacrococcygeal, or pelvic cutaneous regions plus one additional criterion of the urogenital, spinal, bony, anorectal, arterial, or renal organ systems.
CONCLUSIONS
These diagnostic criteria will enhance clinical care by improving screening, detection, and overall awareness of this poorly understood neurocutaneous disorder. The criteria can be utilized by a wide variety of pediatric subspecialists. In addition, formal criteria will improve phenotypic uniformity among LUMBAR syndrome cohorts and a patient registry, allowing investigators to assess clinical features, long-term outcomes, and results of genetic sequencing in a standardized manner. Finally, these criteria will serve as a starting point for prospective studies to establish formal screening and management guidelines.
PubMed: 38759778
DOI: 10.1016/j.jpeds.2024.114101 -
Journal of Pediatric Surgery Apr 2024As pediatric patients with colorectal diseases grow, it is important to address transition to adult practice. We aim to describe our center's transition process and...
BACKGROUND
As pediatric patients with colorectal diseases grow, it is important to address transition to adult practice. We aim to describe our center's transition process and early outcomes.
METHODS
We developed a standardized process for transition to adult practice. An annual survey is given to parents and caregivers starting at age 12 that assesses knowledge of disease, independence with healthcare tasks, and confidence and interest regarding transition. After multidisciplinary review, those eligible are recommended for transition. Those not referred are provided with tools to help with areas of weakness. Outcomes were analyzed with descriptive and regression analyses (significance at p ≤ 0.05).
RESULTS
A total of 116 patients were evaluated, with 80 patients (69.0%) recommended for transition. Median age at survey was 15.5 years [IQR: 13.7-18.1], and those recommended were older (16.6 years [IQR: 14.7-19.4] vs 13.5 years [IQR: 12.5-14.9], p < 0.001)). Primary diagnosis and gender were not associated with recommendation for transition. Overall, a minority (18.1%) were able to complete healthcare tasks; this correlated strongly with transition recommendation (26.3% vs 0.0%, p < 0.0001). On regression controlling for age, diagnosis, knowledge, and confidence, age (aOR 1.98, 95% CI 1.44-2.71) and confidence (aOR 3.78, 95% CI 1.29-11.11) independently predicted transition recommendation.
CONCLUSION
A standardized approach may be effective in transitioning patients from pediatric to adult colorectal surgery practice. Patients who transition are more confident and can perform healthcare tasks independently; however, these skills are not essential prior to a recommendation of transition.
LEVEL OF EVIDENCE
III.
PubMed: 38749777
DOI: 10.1016/j.jpedsurg.2024.04.011 -
Cureus Apr 2024Jejunoileal atresia, a common cause of neonatal intestinal obstruction, typically manifests shortly after birth. This case report highlights a rare instance of a late...
Jejunoileal atresia, a common cause of neonatal intestinal obstruction, typically manifests shortly after birth. This case report highlights a rare instance of a late preterm female neonate presenting with type 4 jejunoileal atresia along with proximal rectal atresia, an exceedingly uncommon combination. Initial symptoms included bilious emesis and failure to pass meconium, leading to surgical correction of jejunoileal atresia. However, postoperative complications, including vomiting and jaundice, prompted further investigation, revealing rectal atresia during a fluoroscopic study on day 29. Subsequent surgery was required to address the rectal atresia, resulting in additional challenges such as short bowel syndrome and infection. The complexity of diagnosis and management underscores the importance of thorough evaluation of the lower gastrointestinal tract in neonates with jejunoileal atresia to prevent misdiagnosis and reduce the need for multiple surgeries. Rectal atresia, which is a very rare anorectal abnormality, in combination with jejunoileal atresia is considered an incredibly unusual, exceptionally unique case; as to our knowledge, no similar presentation had previously occurred. Prompt identification and simultaneous treatment of both conditions can help mitigate complications, minimize the risk of necrosis and perforation, and improve overall outcomes. Comprehensive management strategies that encompass thorough diagnostic evaluation and coordinated surgical interventions are crucial for optimizing the care of neonates with complex intestinal malformations, ensuring timely resolution of symptoms, and reducing long-term morbidity.
PubMed: 38741810
DOI: 10.7759/cureus.58141 -
Journal of Pediatric Surgery Apr 2024Congenital anorectal stenosis is managed by dilations or operative repair. Recent studies now propose use of dilations as the primary treatment modality to potentially...
PURPOSE
Congenital anorectal stenosis is managed by dilations or operative repair. Recent studies now propose use of dilations as the primary treatment modality to potentially defer or eliminate the need for surgical repair. We aim to characterize the management and outcomes of these patients via a multi-institutional review using the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry.
METHODS
A retrospective database review was performed using the PCPLC registry. The patients were evaluated for demographics, co-morbidities, diagnostic work-up, surgical intervention, current bowel management, and complications.
RESULTS
64 patients with anal or rectal stenosis were identified (57 anal, 7 rectal) from a total of 14 hospital centers. 59.6% (anal) and 42.9% (rectal) were male. The median age was 3.2 (anal) and 1.9 years (rectal). 11 patients with anal stenosis also had Currarino Syndrome with 10 of the 11 patients diagnosed with a presacral mass compared to only one rectal stenosis with Currarino Syndrome and a presacral mass. 13 patients (22.8%, anal) and one (14.3%, rectal) underwent surgical correction. Nine patients (8 anal, 1 rectal) underwent PSARP. Other procedures performed were cutback anoplasty and anterior anorectoplasty. The median age at repair was 8.4 months (anal) and 10 days old (rectal). One patient had a wound complication in the anal stenosis group. Bowel management at last visit showed little differences between groups or treatment approach.
CONCLUSION
The PCPLC registry demonstrated that these patients can often be managed successfully with dilations alone. PSARP is the most common surgical repair chosen for those who undergo surgical repair.
LEVEL OF EVIDENCE
III.
PubMed: 38735806
DOI: 10.1016/j.jpedsurg.2024.04.007 -
European Journal of Medical Genetics Jun 2024Anorectal malformations (ARMs) represent a wide spectrum of congenital anomalies of the anus and rectum, of which more than half are syndromic. Their etiology is highly... (Review)
Review
Anorectal malformations (ARMs) represent a wide spectrum of congenital anomalies of the anus and rectum, of which more than half are syndromic. Their etiology is highly heterogeneous and still poorly understood. We report a 4-year-old girl who initially presented with an isolated ARM, and subsequently developed a global developmental delay as part of an ARID1B-related Coffin-Siris syndrome (CSS). A co-occurrence of ARMs and CSS in an individual by chance is unexpected since both diseases are very rare. A review of the literature enabled us to identify 10 other individuals with both CSS and ARMs. Among the ten individuals reported in this study, 8 had a variant in ARID1A, 2 in ARID1B, and 1 in SMARCA4. This more frequent than expected association between CSS and ARM indicates that some ARMs are most likely part of the CSS spectrum, especially for ARID1A-related CSS.
Topics: Humans; Female; Micrognathism; Child, Preschool; Intellectual Disability; Transcription Factors; Neck; Hand Deformities, Congenital; Abnormalities, Multiple; DNA-Binding Proteins; Anorectal Malformations; Face; DNA Helicases; Nuclear Proteins; Anal Canal; Phenotype
PubMed: 38735569
DOI: 10.1016/j.ejmg.2024.104948