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Journal of Multidisciplinary Healthcare 2024Treatment of anorectal malformations (ARM) and the management of clinical outcomes are challenging for families. While most studies focus on mothers suffering from care...
BACKGROUND
Treatment of anorectal malformations (ARM) and the management of clinical outcomes are challenging for families. While most studies focus on mothers suffering from care burden, high stress, and low quality of life, there is limited knowledge of what fathers of children with ARM experience; therefore, this study aimed to examine how both mothers and fathers have experience caring for children with ARM and how beliefs and cultural issues affect the perception of congenital anomalies.
METHODS
A qualitative design. Consolidated criteria for reporting the qualitative research guidelines were used in this study. The guidelines for thematic analysis were followed for data analysis.
RESULTS
Ten mothers and six fathers were interviewed, and their mean age was 32.5 ± 4.2 years. Of the 75% (n = 12) illiterate and 93.7% (n = 15) had an expanded family type, all their religious affiliations were Muslim. The four main themes were (1) ambiguity, (2) challenges, (3) stigma, and (4) coping, which were determined in line with the results of the data analysis of parents' views on having and caring for children with ARM.
CONCLUSION
In this study, many Somali parents reported that they lacked disease and treatment knowledge, physical exhaustion, and some difficulties related to a lack of access to the hospital because of living in rural areas, caring for the child, and dealing with long-term complications, colostomy, anal dilatation, and enema before or after anoplasty. While all parents mentioned that having a child with ARM was a fate, it was seen as punishment by their close social environment. Consequently, this study could serve as a foundation for planning comprehensive healthcare and physical and psychosocial support for multidisciplinary health professionals.
PubMed: 38863765
DOI: 10.2147/JMDH.S462391 -
The Pan African Medical Journal 2024anorectal malformations (ARM) are among the most common congenital anomalies in pediatric surgery. Early detection and management of vestibular fistulas are crucial for...
INTRODUCTION
anorectal malformations (ARM) are among the most common congenital anomalies in pediatric surgery. Early detection and management of vestibular fistulas are crucial for optimal outcomes, capitalizing on the pliability of sphincter muscles and the preservation of somatosensory integration. This study aimed to assess the incidence, clinical presentation, and management outcomes of vestibular fistula ARM in a low-income hospital setting.
METHODS
a retrospective audit was conducted on female pediatric patients aged up to 12 years treated for vestibular fistula ARM from January 1, 2011, to June 30, 2016. Data were collected from medical records, and patients were categorized into one of three surgical management groups. Clinical assessments, preoperative procedures, and surgical interventions were meticulously documented.
RESULTS
among 656 neonates, the incidence of vestibular fistula ARM was 8.2%. Patients presented at various ages, with 69.4% being early presenters. Notably, 11.1% of cases presented after 30 weeks of age. Functional fistula, constipation, and bowel obstruction were common presenting symptoms. Associated anomalies were relatively low. The choice of surgical approach varied, with a predominant 3-stage at 68%. Complication development did not significantly differ between surgical groups (p-value 0.083). Immediate postoperative complications were minimal, but complications at definitive anoplasty varied among the surgical groups. Anal strictures and fistula recurrence were noted. At 12 months post-surgery, anal strictures persisted in 9 participants.
CONCLUSION
this study highlights the challenges and outcomes associated with vestibular fistula ARM in a resource-constrained setting. The 3-stage approach, despite its historical preference, demonstrated suboptimal outcomes. A 2-stage procedure appears to offer a balanced alternative, particularly suitable for low-income healthcare systems. Further research and collaborative efforts are essential to refine the management of vestibular fistula ARM and improve patient outcomes.
Topics: Humans; Female; Retrospective Studies; Anorectal Malformations; Child; Infant; Child, Preschool; Infant, Newborn; Postoperative Complications; Incidence; Treatment Outcome; Poverty; Developing Countries; Recurrence; Rectal Fistula
PubMed: 38854868
DOI: 10.11604/pamj.2024.47.121.42919 -
Journal of Pediatric Surgery May 2024Hirschsprung's disease (HD) is a rare and complex malformation. The corrective operation is challenging and schedulable. The complete care situation for the corrective...
BACKGROUND
Hirschsprung's disease (HD) is a rare and complex malformation. The corrective operation is challenging and schedulable. The complete care situation for the corrective surgery for HD in Germany is uninvestigated.
METHODS
For the years 2016-2022, the microdata of the diagnosis-related groups (DRG) -statistics provided by the Research Data Center of the German Federal Statistical Office were accessed. All hospital stays for corrective surgery of HD in patients aged 0-17 were analyzed for patient's comorbidities, treatment characteristics and hospital structures. The occurrence of severe early postoperative complications during the hospital stay were documented.
RESULTS
The care structure for HD in Germany is decentralized with 109 hospitals performing 1199 corrective surgeries in 7 years. 75% of the participating hospitals performed three or less cases per year and 55 participating hospitals did not perform corrective surgery for HD each year. Early postoperative complications were common with at least one severe early complication in 18.6% of the cases. With an overall low case load per hospital, a volume outcome relationship cannot be established within Germany. Compared to international high volume centers the quality of outcomes for some of the investigated parameters was reduced. Despite the establishing of centers of expertise by the European reference network ERNICA for the treatment of HD no trend towards centralization occurred in Germany.
CONCLUSIONS
The corrective surgery for HD in Germany is decentralized and results in an overall high rate of early complications. The comparison with international studies from high-volume centers indicates potential for improvement for the corrective surgery of HD. Centralization remains essential for the improvement of care for patients with HD.
PubMed: 38811258
DOI: 10.1016/j.jpedsurg.2024.05.004 -
Frontiers in Pediatrics 2024During the second stage surgery for anorectal malformations (ARM), patients whose distal intestine of the colostomy is particularly short underwent laparoscopic-assisted...
PURPOSE
During the second stage surgery for anorectal malformations (ARM), patients whose distal intestine of the colostomy is particularly short underwent laparoscopic-assisted distal colon excision and proximal colon pull-through anorectoplasty (PCPARP). This study aimed to discuss the outcomes of PCPARP after colostomy in patients with ARM.
METHODS
This is a single-center propensity score-matched (PSM) study which was retrospectively initiated patients with intermediate- or high-type ARM who underwent laparoscopic surgery from June 2007 to December 2018. These patients were divided into PCPARP group and conventional laparoscopic-assisted anorectoplasty (LAARP) group according to specific surgical methods. The general data, surgical data, postoperative complications, and functional results were evaluated.
RESULTS
In total, 216 patients were included in this study: 190 (88.0%) undergoing LAARP approach and 26 (12.0%) undergoing PCPARP approach. After PSM, two well-balanced groups of 26 patients were analyzed and showed the postoperative complications ( = 0.126) and bowel function ( = 0.809) were similiar between the two groups.
CONCLUSIONS
The curative effect of PCPARP after colostomy is similar to that of classic LAARP surgery, which can be used for ARM patients with a very short and abnormal distal intestine of the stoma.
PubMed: 38798309
DOI: 10.3389/fped.2024.1402666 -
Children (Basel, Switzerland) May 2024The treatment of patients with colorectal disorders requires care from a wide variety of medical and surgical specialties over the course of their lifetime. This is... (Review)
Review
The treatment of patients with colorectal disorders requires care from a wide variety of medical and surgical specialties over the course of their lifetime. This is ideally handled by a collaborative center which facilitates the assessment and development of patient care among multiple specialties which can enhance the quality and implementation of treatment plans, improve communication among different specialties, decrease morbidity, and improve patient satisfaction and outcomes. This collaborative approach can serve as a model for other parts of medicine requiring a similar multi-disciplinary and integrated method of care delivery. We describe the process, as well as the lessons learned in developing such a program.
PubMed: 38790565
DOI: 10.3390/children11050570 -
Behavioral Sciences (Basel, Switzerland) Apr 2024Postoperative anal dilations (PAD) are the standard of care for patients after a posterior sagittal anorectoplasty (PSARP) for anorectal malformation (ARM) or a...
BACKGROUND
Postoperative anal dilations (PAD) are the standard of care for patients after a posterior sagittal anorectoplasty (PSARP) for anorectal malformation (ARM) or a transanal pull-through (TP) procedure for Hirschsprung disease (HD). This study assessed the psychosocial impact of PAD among caregivers of children with ARM or HD, which may inform postoperative care strategies.
METHODS
Caregivers of patients with ARM and HD who underwent PSARP or TP within five years participated in the online survey. Questions included demographics, patient and caregiver experiences with PAD, and baseline psychosocial functioning. Quantitative results were reported descriptively, while qualitative responses were summarized as major themes.
RESULTS
The survey indicated a response rate of 26% caregivers, with most being female (91%) and biological mothers (85%). Patients were mostly male (65%), born with ARM (74%), and were five months old on average when PAD began. Caregivers reported that during PAD, children experienced distress (56%), pain (44%), and fear (41%), while a third noted no negative reactions. Over time, their child's ability to cope with PAD got easier (38%) or stayed the same (41%). Caregivers reported worry/anxiety (88%), guilt (71%), stress (62%), and frustration (35%), noting that additional coping strategies to manage the emotional and logistical challenges of daily PAD would be helpful.
CONCLUSION
Although PAD is necessary, it can be highly stressful for the patients and their caregivers. Key findings emphasized the need for additional coping strategies and highlighted the importance of integrating psychosocial support into the postoperative care regimen.
PubMed: 38785870
DOI: 10.3390/bs14050379 -
Cureus Apr 2024Endoscopic third ventriculocysternostomy (ETV) is a minimally invasive neurosurgical technique with good results in the treatment of obstructive hydrocephalus. The...
Endoscopic Ventriculocysternostomy, Magendie Foraminoplasty, and Plexusectomy With Craniovertebral Shunt Placement in a Pediatric Patient With Hydrocephalus and VACTERL Association: A Novel Treatment Option.
Endoscopic third ventriculocysternostomy (ETV) is a minimally invasive neurosurgical technique with good results in the treatment of obstructive hydrocephalus. The VACTERL (vertebrae, anorectal, cardiovascular, tracheal, esophageal, renal, limb defects) association, or VATER syndrome, is defined as congenital malformations, mostly derived from the mesoderm, affecting specific areas. It is diagnosed by the presence of at least three of the seven characteristic malformations that describe it. The association of this pathology and obstructive hydrocephalus in pediatric age is not common, making management and conventional neurosurgical procedures difficult due to the number of underlying pathologies. In this study, we report the management of hydrocephalus and VACTERL association with multiple congenital malformations in a 30-day-old premature neonate (birth at 29 weeks). Operations performed prior to admission to our service included: coloesophagoplasty and placement of esophagostoma in the left anterior cervical region, perineal anorectoplasty, gastrostomy and placement of sigmoidostomy in the left anterior abdominal wall, relaparotomy, gastric suture, sanitation, and abdominal drainage. Upon admission, the patient showed a Grade 3 intraventricular hemorrhage and internal occlusive hydrocephalus due to circulatory blockage of the cerebrospinal fluid (CSF) at the level of the outlet of the fourth ventricle. This was accompanied by intracranial hypertension and refractory cervical syringomyelia. We performed endoscopic ventriculocysternostomy plus plexusectomy plus Magendie foraminoplasty with craniovertebral shunt placement, achieving excellent results after two interventions. This is the first case described in the literature placing a craniovertebral shunt using a lateral-ventricle-to-the-subarachnoid-spinal-space-stenting technique in a patient with VACTERL association, which represents an innovation in the field of minimally invasive pediatric neurosurgery.
PubMed: 38784296
DOI: 10.7759/cureus.58845 -
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 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