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Journal of Pediatric Gastroenterology... Jun 2024For children with constipation and fecal incontinence treated with antegrade continence enemas (ACE), a fluoroscopic study with contrast administered via...
BACKGROUND
For children with constipation and fecal incontinence treated with antegrade continence enemas (ACE), a fluoroscopic study with contrast administered via appendicostomy/cecostomy can define the anatomy of the colon and simulate the flush to investigate associated symptoms or inadequate response. These studies can at times show retrograde flow into the small intestine. Our objective was to investigate the significance of this finding.
METHODS
We reviewed studies at our institution with contrast administered via appendicostomy/cecostomy in children treated with ACE, identifying those demonstrating retrograde flow of contrast. We recorded demographics, medical history, interventions, and outcomes.
RESULTS
We identified 162 studies (52% male, median age 10.7 years) with contrast via appendicostomy (76%) or cecostomy (24%). Diagnoses included anorectal malformation (38%), spinal cord anomaly (26%), functional constipation (24%), colonic dysmotility (18%), and Hirschsprung disease (12%). Fifty-nine (36%) studies showed retrograde flow: 28/59 children (48%) were not responding adequately and 21/59 (36%) had symptoms with ACE. Children with retrograde flow were more likely to have symptoms with ACE than those without (36% vs. 15%, p < 0.01). Fourteen children underwent interventions for this finding, including administering flushes more distally (4/8 responded), changing positioning of the child during flush administration, (1/2 responded), and slowing administration (1/1 responded). Retrograde flow was associated with younger age (p < 0.01), not sex or underlying diagnosis.
CONCLUSION
Identifying retrograde flow during studies with contrast administered via appendicostomy/cecostomy can be useful for children with a poor response or symptoms associated with ACE, as adjustments to the mechanics of the flush can alleviate those symptoms.
LEVEL OF EVIDENCE
Prognostic study, Level III.
PubMed: 38937991
DOI: 10.1002/jpn3.12297 -
Pediatric Surgery International Jun 2024There is a knowledge gap regarding long-term outcomes for males undergoing surgery for an anorectal malformation (ARM). The purpose of this study was to investigate...
PURPOSE
There is a knowledge gap regarding long-term outcomes for males undergoing surgery for an anorectal malformation (ARM). The purpose of this study was to investigate bowel function, bladder function, and health-related quality of life (HRQoL) in male patients with an anorectal malformation.
METHODS
This cross-sectional questionnaire-based study included males treated for ARM at our institution between 1994 and 2017. Bowel function was assessed with bowel function score (BFS) while urinary tract function was assessed with lower urinary tract symptoms (LUTS) questionnaires. Health-related quality of life (HRQoL) was investigated using age-relevant questionnaires (KIDSCREEN and PGWBI). Patient characteristics were retrospectively collected from the medical records and descriptive statistics were used for analysis. Functional outcomes were compared with gender and age-matched controls while HRQoL was compared to normative data. The study was approved by ethics review authorities.
RESULTS
A total of 58 (44.6%) of 130 males responded to the questionnaires. Regarding bowel function, 24 (42.1%) of 57 patients and 81 (95.3%) of 85 controls, respectively, reported a well-preserved bowel function represented by a BFS ≥ 17 (p < 0.001). Soiling issues and 'feels urge' items improved significantly with age. In a linear regression model, BFS increased significantly with age. For most parameters, the proportion of ARM patients with lower urinary tract symptoms was larger, though not significantly, compared to the controls. However, straining and stress incontinence were reported significantly more often by ARM patients. In patients and controls, voiding outcomes in terms of prevalence of having symptoms and the number of cumulative symptoms drop with increasing age. Children and adults reported similar or, in some domains, better HRQoL outcomes when compared to normative European data.
CONCLUSION
Bowel function is impaired in male patients with ARM but significantly improves with age. Urinary tract function was affected, but overall comparable to the controls. HRQoL was unaffected. No significant association between the studied outcomes could be shown.
LEVEL OF EVIDENCE
III.
Topics: Humans; Male; Quality of Life; Anorectal Malformations; Cross-Sectional Studies; Child; Surveys and Questionnaires; Retrospective Studies; Adolescent; Child, Preschool; Adult; Young Adult; Lower Urinary Tract Symptoms
PubMed: 38935149
DOI: 10.1007/s00383-024-05746-5 -
Children (Basel, Switzerland) May 2024In pediatric colorectal surgery, achieving and visualizing adequate perfusion during complex reconstructive procedures are paramount to ensure postoperative success.... (Review)
Review
In pediatric colorectal surgery, achieving and visualizing adequate perfusion during complex reconstructive procedures are paramount to ensure postoperative success. However, intraoperative identification of proper perfusion remains a challeng. This review synthesizes findings from the literature spanning from January 2010 to March 2024, sourced from Medline/PubMed, EMBASE, and other databases, to evaluate the role of indocyanine green (ICG) fluorescence imaging in enhancing surgical outcomes. Specifically, it explores the use of ICG in surgeries related to Hirschsprung disease, anorectal malformations, cloacal reconstructions, vaginal agenesis, bladder augmentation, and the construction of antegrade continence channels. Preliminary evidence suggests that ICG fluorescence significantly aids in intraoperative decision-making by improving the visualization of vascular networks and assessing tissue perfusion. Despite the limited number of studies, initial findings indicate that ICG may offer advantages over traditional clinical assessments for intestinal perfusion. Its application has demonstrated a promising safety profile in pediatric patients, underscoring the need for larger, prospective studies to validate these observations, quantify benefits, and further assess its impact on clinical outcomes. The potential of ICG to enhance pediatric colorectal surgery by providing real-time, accurate perfusion data could significantly improve surgical precision and patient recovery.
PubMed: 38929244
DOI: 10.3390/children11060665 -
Children (Basel, Switzerland) May 2024Pediatric colorectal specialists care for patients with a variety of defecation disorders. Anorectal (AR) manometry testing is a valuable tool in the diagnosis and...
BACKGROUND
Pediatric colorectal specialists care for patients with a variety of defecation disorders. Anorectal (AR) manometry testing is a valuable tool in the diagnosis and management of these children. This paper provides a summary of AR manometry techniques and applications as well as a review of AR manometry findings in pediatric patients with severe defecation disorders referred to a pediatric colorectal center. This is the first study describing multi-year experience using a portable AR manometry device in pediatric patients.
METHODS
An electronic medical record review was performed (1/2018 to 12/2023) of pediatric patients with defecation disorders who had AR manometry testing. Demographics, diagnostic findings, and outcomes are described.
KEY RESULTS
A total of 297 unique patients (56.9% male, = 169) had AR manometry testing. Of these, 72% (n = 188) had dyssynergic defecation patterns, of which 67.6% (n = 127) had fecal soiling prior to treatment. Pelvic rehabilitation (PR) was administered to 35.4% (n = 105) of all patients. A total of 79.5% (n = 58) of the 73 patients that had fecal soiling at initial presentation and completed PR with physical therapy and a bowel management program were continent after therapy. AR manometry was well tolerated, with no major complications.
CONCLUSIONS
AR manometry is a simple test that can help guide the management of pediatric colorectal surgical patients with defecation disorders. As a secondary finding, PR is a useful treatment for patients with dyssynergic stooling.
PubMed: 38929233
DOI: 10.3390/children11060654 -
Alimentary Pharmacology & Therapeutics Jun 2024Faecal incontinence is a highly prevalent and very distressing condition that occurs throughout the entire paediatric age.
BACKGROUND
Faecal incontinence is a highly prevalent and very distressing condition that occurs throughout the entire paediatric age.
AIM
To summarise advances in the understanding of the epidemiology, pathophysiology, evaluation and treatment of children with faecal incontinence due to either disorders of gut-brain interaction or organic diseases.
METHODS
Literature review on prevalence, impact, diagnosis and treatment options for children with faecal incontinence, interspersed with observations from the author's lifelong career focused on evaluation of children with motility disorders.
RESULTS
Faecal incontinence in children is most commonly due to unrecognised or insufficiently treated functional constipation with overflow incontinence. Non-retentive faecal incontinence (NRFI) is probably more common than previously thought and is particularly challenging to treat. Organic diseases such as anorectal malformations (ARMs), Hirschsprung disease and spinal defects are often associated with faecal incontinence; in these conditions, faecal incontinence has a profound impact on quality of life. Recognition of the different pathophysiologic mechanisms causing the incontinence is essential for a successful treatment plan. A thorough physical examination and history is all that is needed in the diagnosis of the causes of faecal incontinence related to disorders of gut-brain interaction. Colonic transit studies or x-rays may help to differentiate retentive from NRFI. Manometry tests are helpful in determining the mechanisms underlying the incontinence in children operated on for ARMs or Hirschsprung diseases. Multiple behavioural, medical and surgical interventions are available to lessen the severity of faecal incontinence and its impact on the daily life of affected individuals.
CONCLUSIONS
Recent advances offer hope for children with faecal incontinence.
PubMed: 38924573
DOI: 10.1111/apt.17832 -
Alimentary Pharmacology & Therapeutics Jun 2024Anorectal malformations (ARMs) are congenital anomalies of the anorectum and the genitourinary system that result in a broad spectrum of hindgut anomalies. Despite...
BACKGROUND
Anorectal malformations (ARMs) are congenital anomalies of the anorectum and the genitourinary system that result in a broad spectrum of hindgut anomalies. Despite surgical correction patients continue to have late postoperative genitourinary and colorectal dysfunction that have significant impact on quality of life.
AIM
This paper will review the current evidence and discuss the evaluation and management of postoperative patients with ARMs who present with persistent defecation disorder.
METHODS
A literature search was conducted using PubMed/MEDLINE/EMBASE databases applying the following terms: ARMs, imperforate anus, constipation, faecal incontinence, neurogenic bowel, posterior sagittal anorectoplasty.
RESULTS
Patients who present with postoperative defecation disorders require timely diagnostic and surgical evaluation for anatomic abnormalities prior to initiation of bowel management. Goals of management are to avoid constipation in young children, achieve faecal continence in early childhood and facilitate independence in older children and adolescents. Treatment options vary from high dose stimulant laxatives to high-volume retrograde and antegrade enemas that facilitate mechanical colonic emptying.
CONCLUSIONS
Appropriate diagnostic work-up and implementation of treatment can decrease long-term morbidity and improve quality of life in postoperative patients with ARMs who presents with defecation disorders.
PubMed: 38924569
DOI: 10.1111/apt.17897 -
Clinical Case Reports Jul 2024Polymelia (supernumerary limbs) is an extremely rare congenital condition in humans. Because congenital anorectal malformation is a relatively common complication of...
Polymelia (supernumerary limbs) is an extremely rare congenital condition in humans. Because congenital anorectal malformation is a relatively common complication of polymelia and it may require emergency surgery as in the present case, accompanying malformations must be investigated.
PubMed: 38919885
DOI: 10.1002/ccr3.9119 -
Italian Journal of Pediatrics Jun 2024Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by imperforate anus, dysplastic ears, thumb malformations, and other abnormalities. Previous...
BACKGROUND
Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by imperforate anus, dysplastic ears, thumb malformations, and other abnormalities. Previous studies have revealed that mutations in the SALL1 gene can disrupt normal development, resulting in the characteristic features of Townes-Brocks syndrome. Spalt-like transcription factors (SALLs) are highly conserved proteins that play important roles in various cellular processes, including embryonic development, cell differentiation, and cell survival. Over 400 different variants or mutations have been reported in the SALL1 gene in individuals with TBS. Most of these variants lead to the formation of premature termination codons (PTCs), also known as nonsense mutations. The majority of these PTCs occur in a specific region of the SALL1 gene called the "hotspot region", which is particularly susceptible to mutation.
METHODS
In this study, we conducted whole-exome sequencing on a three-generation Chinese family with anorectal malformations.
RESULTS
We identified a novel heterozygous mutation (chr16:51175376:c.757 C > T p.Gln253*) in the SALL1 gene. Molecular analysis revealed a heterozygous C to T transition at nucleotide position 757 in exon 2 of the SALL1 (NM_002968) gene. This mutation is predicted to result in the substitution of the Gln253 codon with a premature stop codon (p.Gln253*). The glutamine-rich domain forms a long alpha helix, enabling the mutant protein to interact with the wild-type SALL1 protein. This interaction may result in steric hindrance effects on the wild-type SALL1 protein.
CONCLUSIONS
Our findings have expanded the mutation database of the SALL1 gene, which is significant for genetic counseling and clinical surveillance in the affected family. Furthermore, our study enhances the understanding of Townes-Brocks syndrome and has the potential to improve its diagnosis and treatment.
Topics: Humans; Transcription Factors; Abnormalities, Multiple; Anus, Imperforate; Female; Male; Pedigree; China; Mutation; Rare Diseases; Anorectal Malformations; Asian People; East Asian People; Hearing Loss, Sensorineural; Thumb
PubMed: 38915054
DOI: 10.1186/s13052-024-01691-0 -
Urology Jun 2024Congenital true diphallia, complete duplicate bladder, bladder exstrophy and anorectal malformation in a child are uncommon. Here, we present the case of a...
Congenital true diphallia, complete duplicate bladder, bladder exstrophy and anorectal malformation in a child are uncommon. Here, we present the case of a three-year-old boy with multiple genitourinary malformation, including true diphallia, complete duplicate bladder, bladder exstrophy, epispadias, and anorectal malformation. Multi-departmental collaborative treatment for complex conditions ultimately achieved an ideal appearance for this patient. All vital signs were stable after the surgery and they remained consistent during follow-up. In such cases, surgical correction is individualized to achieve adequate urinary continence and erection with adequate esthetics.
PubMed: 38914230
DOI: 10.1016/j.urology.2024.06.031 -
Journal of Indian Association of... 2024To study the safety and feasibility of enhanced recovery after surgery (ERAS) protocol in pediatric colostomy closure.
AIMS
To study the safety and feasibility of enhanced recovery after surgery (ERAS) protocol in pediatric colostomy closure.
MATERIALS AND METHODS
Retrospective observational study of children who underwent colostomy closure. Data were collected from the electronic medical records and telephonic follow-up calls of patients from October 2013 to October 2023, in the Department of Pediatric Surgery of a Tertiary level Medical College. The parameters obtained were age, gender, type of stoma, primary diagnosis, discrepancy in luminal diameters, time to reach full feeds, postoperative hospital stay, and complications. The protocol followed for colostomy closure included the following-no bowel preparation or nasogastric tube, no overnight fasting, single dose of antibiotic prophylaxis, avoiding opioids, packing proximal stoma till mobilization and starting early oral feeds postoperatively. The continuous parameters were expressed as mean ± standard deviation or median (range) while the descriptive parameters were expressed as number and percentage.
RESULTS
A total of 90 patients were included in the study. Most of the patients had colostomy for anorectal malformation. Five of them had significant luminal discrepancy of 4 or more times. Full feeds were reached within 2 days in 79 patients. Postoperative hospital stay was 2-3 days in 62 patients. Six patients stayed for more than 5 days, due to complications requiring further management. We noted surgical site infection in 6 patients all of whom were managed with regular wound dressings and fecal fistula in 4 cases, two of which resolved spontaneously.
CONCLUSION
ERAS protocol in colostomy closure reduces the hospital stay and is cost effective, with early recovery and no added complications.
PubMed: 38912032
DOI: 10.4103/jiaps.jiaps_245_23