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Pediatric Surgery International Oct 2023First, to assess the number of patients with anorectal malformations (ARM) in whom additional urological and/or gynecological anomalies were identified through routine...
PURPOSE
First, to assess the number of patients with anorectal malformations (ARM) in whom additional urological and/or gynecological anomalies were identified through routine screening with cysto- or vaginoscopy prior to reconstructive surgery. Second, to assess potential procedure-related complications.
METHODS
Retrospective mono-center cohort study, including all ARM patients born between January 2019 and December 2022. Routine screening consisted of cystoscopy for male patients, with the addition of vaginoscopy for female patients. Chi-square was used to compare the screening percentages over time.
RESULTS
In total, 38 patients were included, of whom 27 (71.1%) underwent cystoscopy ± vaginoscopy, without the occurrence of complications. Nine of 13 females (69.2%) underwent cysto- and vaginoscopy and 18 of 25 males (72.0%) underwent a cystoscopy. The percentage of patients that underwent these procedures improved over the 2 time periods (50.0% in 2019-2020 vs 90.0% in 2021-2022, p = 0.011). In 15 of 27 patients (55.6%) that underwent cystoscopy ± vaginoscopy, additional anomalies were found that were not identified through physical examination or US-kidney.
CONCLUSIONS
In 56% of the patients that underwent cysto- ± vaginoscopy, additional anomalies were identified that were not with imaging studies or physical examination. This study emphasizes the potential benefit of routine cysto- and vaginoscopy in the diagnostic work-up of children with ARM.
LEVEL OF EVIDENCE
III.
Topics: Child; Humans; Male; Female; Cystoscopy; Anorectal Malformations; Retrospective Studies; Cohort Studies; Surgery, Plastic; Anal Canal
PubMed: 37889354
DOI: 10.1007/s00383-023-05565-0 -
Journal of Pediatric Surgery Jan 2024Recent series of newborn Oesophageal Atresia (OA) repair continue to report widespread use of chest drains, gastrostomy, routine contrast studies and parenteral...
PURPOSE
Recent series of newborn Oesophageal Atresia (OA) repair continue to report widespread use of chest drains, gastrostomy, routine contrast studies and parenteral nutrition (PN) despite evidence suggesting these are superfluous. We report outcomes using a minimally interventional approach to post-operative recovery.
METHODS
Ethically approved (15/WA/0153), single-centre, retrospective case-note review of consecutive infants with OA 2000-2022. Infants with OA and distal trache-oesophageal fistula undergoing primary oesophageal anastomosis at initial surgery were included (including those with comorbidities such as duodenal atresia, anorectal malformation and cardiac lesions). Our practice includes routine use of a trans-anastomotic tube (TAT), no routine chest drain nor gastrostomy, early enteral and oral feeding, no routine PN and no routine contrast study. Data are median (IQR).
RESULTS
Of total 186 cases of OA treated during the time period, 157 met the inclusion criteria of which 2 were excluded as casenotes unavailable. TAT was used in 150 infants. A chest drain was required in 13 (8%) and two infants had a neonatal gastrostomy. Enteral feeds were started on postoperative day 2 (2-3), full enteral feeds established by day 4 (4-6) and oral feeds started on day 5 (4-8). PN was required in 15%. Median postoperative length of stay was 10 days (8-17). Progress was quicker in term infants than preterm. One infant died of cardiac disease prior to neonatal discharge. Two planned post-operative contrast studies were performed (surgeon preference) and a further 7 due to clinical suspicion of anastomotic leak. Contrast study was therefore avoided in 94%. There were 2 anastomotic leaks; both presented clinically at day 4 and day 8 after oral feeds had been started.
CONCLUSION
Our minimally interventional approach is safe. It facilitates prompt recovery with lower resource use, reduced demand on nursing staff, reduced radiation burden, and early discharge home compared to published series without adversely affecting outcomes.
LEVEL OF EVIDENCE
Level 4.
Topics: Infant, Newborn; Infant; Humans; Esophageal Atresia; Enteral Nutrition; Retrospective Studies; Anastomotic Leak; Gastrostomy
PubMed: 37867045
DOI: 10.1016/j.jpedsurg.2023.09.026 -
Annals of Dermatology May 2023PELVIS syndrome describes the constellation of perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus,...
A Case of Perineal Hemangioma, External Genitalia Malformations, Lipomyelomeningocele, Vesicorenal Abnormalities, Imperforate Anus, and Skin Tag (PELVIS) Syndrome with Extensive Perineal Infantile Hemangioma.
PELVIS syndrome describes the constellation of perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag. A 2-month-old girl presented with infantile hemangioma on her perineum and genitalia with imperforate anus, rectovaginal fistula and perineal skin tag at birth. Under the impression of PELVIS syndrome, consequential spinal sonography was conducted and revealed an intrasacral meningocele without clinical neurologic deficit. The anorectal malformation was surgically corrected, she was taking oral propranolol for the cutaneous lesion, and she showed improvement and no complications.
PubMed: 37853874
DOI: 10.5021/ad.21.183 -
Journal of Indian Association of... 2023Anorectal malformations (ARMs) are managed classically in three stages - colostomy at birth, anorectal pull-through after 2-3 months, and stoma closure. Single-stage... (Review)
Review
Anorectal malformations (ARMs) are managed classically in three stages - colostomy at birth, anorectal pull-through after 2-3 months, and stoma closure. Single-stage pull-through has been contemplated in neonatal age aimed to reduce the number of procedures, better long-term continence, the better psycho-social status of the child, and reduced cost of treatment, especially in resource-strained countries. We conducted a systematic review comparing neonatal single-stage pull-through with stage pull-through and did a meta-analysis for the outcome and complications. Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines were followed. PubMed and Scopus databases were searched and RevMan 5.4.1 was used for the meta-analysis. Fourteen comparative studies including one randomized controlled trial were included in the systematic review for meta-analysis. The meta-analysis included 1845 patients including 866 neonates undergoing single-stage pull-through. There was no statistically significant difference for the occurrence of surgical site infection (odds ratio [OR] 0.82, 95% confidence interval [CI]: 0.24-2.83), urinary tract injury (OR 1.82, 95% CI: 0.85-3.89), rectal prolapse (OR 0.98, 95% CI: 0.21-5.04), anal stenosis/stricture, voluntary bowel movements (OR 0.97, 95% CI: 0.25-3.73), constipation (OR 1.01, 95% CI: 0.61-1.67), soiling (OR 0.89, 95% CI: 0.52-1.51), mortality (OR 1.19, 95% CI: 0.04-39.74), or other complications. However, continence was seen to be better among patients undergoing neonatal pull-through (OR 1.63, 95% CI: 1.12-2.38). Thus, we can recommend single-stage pull-through for managing patients with ARMs in the neonatal age.
PubMed: 37842219
DOI: 10.4103/jiaps.jiaps_28_23 -
Cold Spring Harbor Molecular Case... Dec 2023Anorectal malformations (ARMs) constitute a group of congenital defects of the gastrointestinal and urogenital systems. They affect males and females, with an estimated...
Anorectal malformations (ARMs) constitute a group of congenital defects of the gastrointestinal and urogenital systems. They affect males and females, with an estimated worldwide prevalence of 1 in 5000 live births. These malformations are clinically heterogeneous and can be part of a syndromic presentation (syndromic ARM) or as a nonsyndromic entity (nonsyndromic ARM). Despite the well-recognized heritability of nonsyndromic ARM, the genetic etiology in most patients is unknown. In this study, we describe three siblings with diverse congenital anomalies of the genitourinary system, anemia, delayed milestones, and skeletal anomalies. Genome sequencing identified a novel, paternally inherited heterozygous Caudal type Homeobox 2 () variant (c.722A > G (p.Glu241Gly)), that was present in all three affected siblings. The variant identified in this family is absent from population databases and predicted to be damaging by most in silico pathogenicity tools. So far, only two other reports implicate variants in with ARMs. Remarkably, the individuals described in these studies had similar clinical phenotypes and genetic alterations in encodes a transcription factor and is considered the master regulator of gastrointestinal development. This variant maps to the homeobox domain of the encoded protein, which is critical for interaction with DNA targets. Our finding provides a potential molecular diagnosis for this family's condition and supports the role of in anorectal anomalies. It also highlights the clinical heterogeneity and variable penetrance of ARM predisposition variants, another well-documented phenomenon. Finally, it underscores the diagnostic utility of genomic profiling of ARMs to identify the genetic etiology of these defects.
Topics: Male; Female; Humans; Anal Canal; Anorectal Malformations; Anus, Imperforate; Limb Deformities, Congenital; Urogenital System; CDX2 Transcription Factor
PubMed: 37816608
DOI: 10.1101/mcs.a006294 -
Clinical Case Reports Oct 2023Congenital anorectal malformation (ARM) is a diverse group of anomalies affecting the development of the anal and rectal regions, with an estimated incidence of one in...
Congenital anorectal malformation (ARM) is a diverse group of anomalies affecting the development of the anal and rectal regions, with an estimated incidence of one in every 5000 live births. The colostomy is commonly performed as part of the staged management of children with ARM to prevent complications. However, the presence of acute watery diarrhea in children with ARM and colostomy poses significant management challenges due to the altered anatomy and physiology affecting stool regulation and absorption, exacerbated by various factors including infections, dietary issues, medication side effects, and underlying gastrointestinal complications.This case study explores the complexities involved in managing acute watery diarrhea in children with congenital ARM and colostomy. A comprehensive literature review was conducted to examine the existing evidence on the subject. The study highlights the multidisciplinary approach required, involving pediatricians, surgeons, and other specialists, to provide comprehensive care and support for these children. Effective management of acute watery diarrhea in children with congenital ARM and colostomy necessitates collaboration between pediatricians and surgeons. Pediatricians play a crucial role in assessing hydration status, monitoring electrolyte balance, and providing appropriate fluid and nutritional management. Surgeons address the surgical aspects of care and coordinate interventions with the management of acute diarrhea. The study underscores the importance of a multidisciplinary approach to deliver comprehensive care, optimize outcomes, and improve the quality of life for affected children. The management of acute watery diarrhea in children with congenital ARM and colostomy presents significant challenges due to the complex interplay of anatomical, physiological, and clinical factors. A multidisciplinary approach involving pediatricians, surgeons, and other specialists is vital for providing comprehensive care and support. This case study emphasizes the need for further research, guidelines, and collaborative efforts to enhance the management strategies for this vulnerable population.
PubMed: 37808576
DOI: 10.1002/ccr3.8012 -
Journal of Pediatric and Adolescent... Feb 2024In girls born with an anorectal malformation (ARM), anatomical gynecological anomalies (GA) may be present and might need treatment. Therefore, the aim of this study was...
STUDY OBJECTIVE
In girls born with an anorectal malformation (ARM), anatomical gynecological anomalies (GA) may be present and might need treatment. Therefore, the aim of this study was to provide an overview of GA in girls born with ARM in our cohort. Additionally, diagnostic timing and methods for GA were assessed.
METHODS
A retrospective mono-center study was performed from January 2000 to December 2022. All patients assigned female at birth were eligible for inclusion. GA were classified according to ESHRE/ESGE classification. Outcomes were the number of girls with GA with subsequent screening methods, factors associated with GA, and GA requiring treatment. Uni- and multivariable logistic regression analyses were performed to identify the association between baseline characteristics and the presence of GA.
RESULTS
In total, 128 girls were included, of whom 30 (24.1%) had additional GA, with vaginal anomalies being present most often (n = 17). Fifty-six patients (43.8%) underwent full screening, and this number improved over time (37.7% before 2018 vs 72.7% after 2018; P = .003). Thirteen of 30 patients (43.3%) required surgical treatment for their GA, without the occurrence of postoperative complications.
CONCLUSION
Additional GA were present in almost a quarter of the girls born with an ARM, with vaginal anomalies most often identified. Despite GA being most often found in patients with cloacal malformations, these anomalies were also identified in patients with other ARM types. Surgical treatment was required in almost half of the girls with GA. Therefore, this study emphasizes the importance of screening for GA in patients with an ARM, regardless of the ARM type.
Topics: Infant, Newborn; Animals; Humans; Female; Anorectal Malformations; Retrospective Studies; Postoperative Complications; Cloaca
PubMed: 37777168
DOI: 10.1016/j.jpag.2023.09.007 -
BMC Medical Imaging Sep 2023Accurate preoperative fistula diagnostics in male anorectal malformations (ARM) after colostomy are of great significance. We reviewed our institutional experiences and... (Review)
Review
BACKGROUND
Accurate preoperative fistula diagnostics in male anorectal malformations (ARM) after colostomy are of great significance. We reviewed our institutional experiences and explored methods for improving the preoperative diagnostic accuracy of fistulas in males with ARMs after colostomy.
METHODS
A retrospective analysis was performed on males with ARMs after colostomy admitted to our hospital from January 2015 to June 2022. All patients underwent magnetic resonance imaging (MRI) and high-pressure colostogram (HPC) before anorectal reconstruction. Patients with no fistula as diagnosed by both modalities underwent a voiding cystourethrogram (VCUG). General information, imaging results and surgical results were recorded.
RESULTS
Sixty-nine males with ARMs after colostomy were included. Age at the time of examination was 52 ~ 213 days, and the median age was 89 days. The Krickenbeck classification according to surgical results included rectovesical fistula (n = 19), rectoprostatic fistula (n = 24), rectobulbar fistula (n = 19) and no fistula (n = 7). There was no significant difference in the diagnostic accuracy between MRI and HPC for different types of ARMs. For determining the location of the fistula, compared to surgery, HPC (76.8%, 53/69) performed significantly better than MRI (60.9%, 42/69) (p = 0.043). Sixteen patients diagnosed as having no fistula by MRI or HPC underwent a VCUG, and in 14 patients, the results were comfirmed. However, there were 2 cases of rectoprostatic fistula that were not correctly diagnosed.
CONCLUSION
High-pressure colostogram has greater accuracy than MRI in the diagnosis of fistula type in males with ARMs after colostomy. For patients diagnosed with no fistula by both methods, VCUG reduces the risk of false-negative exclusion, and rectoprostatic fistula should be considered during the operation.
Topics: Humans; Male; Infant; Anorectal Malformations; Retrospective Studies; Colostomy; Rectal Fistula; Magnetic Resonance Imaging
PubMed: 37749545
DOI: 10.1186/s12880-023-01105-3 -
Clinical Medicine Insights. Pediatrics 2023Neonatal intestinal obstruction is a challenging issue, especially in developing countries. There is an apparent difference in the etiology, complications, and mortality...
BACKGROUND
Neonatal intestinal obstruction is a challenging issue, especially in developing countries. There is an apparent difference in the etiology, complications, and mortality of intestinal obstruction in neonates in different countries.
OBJECTIVES
We aimed to describe the causes, early postoperative outcomes, and predictors of morbidities in neonates with intestinal obstruction in a tertiary neonatal intensive care unit (NICU) in Iran.
DESIGN & METHODS
We conducted a retrospective study on neonates who were admitted with intestinal obstruction requiring surgery in the NICU of Boo-Ali Sina Hospital in northern Iran during 2018 to 2022. Demographic and clinical characteristics of the newborns, final diagnosis, postoperative complications, and mortality rate were documented. Also, the relationship between postoperative complications and risk factors, including birth weight, gestational age, and surgical intervention time, was evaluated.
RESULTS
A total of 169 neonates with intestinal obstruction requiring surgery were admitted with a male ratio of 60.9% and mean age of 3.85 ± 8.01 days. Imperforate anus with a prevalence of 42% was the most common cause of neonatal intestinal obstruction, followed by Hirschsprung's disease and duodenal atresia. Death after surgery occurred in 4.1% of the patients. Sepsis with a prevalence of 1.4% was the most common early postoperative complication. The late surgical intervention had a statistically significant relationship with the increase in postoperative sepsis ( = .048).
CONCLUSION
The time of surgical intervention is the main predictor of complications in neonatal intestinal obstruction, so prompt diagnosis and timely treatment of these babies can significantly improve the prognosis. It is also necessary to improve access to pediatric surgery services in developing countries.
PubMed: 37712054
DOI: 10.1177/11795565231196771 -
Orphanet Journal of Rare Diseases Sep 2023Klippel-Trénaunay syndrome is typically a complex combined capillary-lymphatic-venous malformation in lower limb. Gastrointestinal involvement is not infrequent in... (Review)
Review
Klippel-Trénaunay syndrome is typically a complex combined capillary-lymphatic-venous malformation in lower limb. Gastrointestinal involvement is not infrequent in Klippel-Trénaunay syndrome. Rectal bleeding is the most common complication. In recent years, this condition has been increasingly reported. However, most authors simply described extreme manifestations or various combinations of clinical observations. The underlying pathophysiology of gastrointestinal involvement in Klippel-Trénaunay syndrome has been underrecognized. Pathophysiologically, some seemingly adequate managements are pitfalls in treatment. Anorectosigmoid vascular malformations in KTS have distinct and more complicated pathophysiologies than anorectal vascular malformation. Once understanding the pathophysiology, some patients can be successfully managed with a staged plan in our practice. Therefore, recognizing the pathophysiologies of gastrointestinal involvement is needed to evaluate, prevent pitfalls, and determine adequate managements for practitioners. Because of the complexity and rarity of this condition, prospective controlled study or a large cohort of patients is impossible. Based on literature review and our practice, we discuss pathophysiologies, evaluation, pitfalls, and treatment strategies for gastrointestinal involvement in Klippel-Trénaunay syndrome.
Topics: Humans; Klippel-Trenaunay-Weber Syndrome; Prospective Studies; Anorectal Malformations; Lymphatic Vessels
PubMed: 37700367
DOI: 10.1186/s13023-023-02857-5