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Children (Basel, Switzerland) Mar 2024We aimed to compare among patients with high-type anorectal malformations (ARM): (i) short- and long-term outcomes of laparoscopic-assisted anorectoplasty (LAARP)... (Review)
Review
Short and Long-Term Outcomes of PSARP versus LAARP and Single versus Staged Repair for Infants with High-Type Anorectal Malformations: A Systematic Review and Meta-Analysis.
BACKGROUND
We aimed to compare among patients with high-type anorectal malformations (ARM): (i) short- and long-term outcomes of laparoscopic-assisted anorectoplasty (LAARP) compared to classic posterior sagittal anorectoplasty (PSARP) and (ii) the results of single-stage versus staged PSARP.
METHODS
Using a defined search strategy, two independent investigators systematically reviewed the English literature. PRISMA guidelines were followed, and meta-analysis was performed using RevMan5.3.
RESULTS
Of 567 abstracts screened, 7 papers have been included (254 pts; 121 PSARP, 133 LAARP) in the first systematic review and meta-analysis. The length of hospitalization was shortened in LAARP versus PSARP (10.9 versus 14.4 days; < 0.0001). PSARP and LAARP were comparable in terms of early postoperative complications (28.9% versus 24.7%; = ns) and rectal prolapse (21.6% versus 17.5%; = ns). At long-term follow-up, the presence of voluntary bowel movements (74.0% versus 83.5%; = ns) and the incidence of soiling (45.5% versus 47.6%; = ns) were similar in both PSARP and LAARP. Six papers (297 pts) were included in the second systematic review, with three comparative studies included in the meta-analysis (247 pts; 117 one-stage, 130 staged procedures). No significant difference in terms of presence of voluntary bowel movements after single-stage versus staged procedures (72.6% versus 67.3%; = ns) has been detected.
CONCLUSIONS
LAARP seems to be a safe and effective procedure, showing short- and long-term outcomes similar to PSARP. One-stage PSARP could be a safe alternative to the classic three-stage procedure, even for those infants with high-type ARM. Further and larger comparative studies would be needed to corroborate these partial existing data.
PubMed: 38539411
DOI: 10.3390/children11030376 -
Cell Proliferation Mar 2024Anorectal malformation (ARM), a common congenital anomaly of the digestive tract, is a result of insufficient elongation of the urorectal septum. The cytoplasmic protein...
Anorectal malformation (ARM), a common congenital anomaly of the digestive tract, is a result of insufficient elongation of the urorectal septum. The cytoplasmic protein Receptor of Activated C-Kinase 1 (Rack1) is involved in embryonic neural development; however, its role in embryonic digestive tract development and ARM formation is unexplored. Our study explored the hindgut development and cell death mechanisms in ARM-affected rats using spatial transcriptome analysis. We induced ARM in rats by administering ethylenethiourea via gavage on gestational day (GD) 10. On GDs 14-16, embryos from both normal and ARM groups underwent spatial transcriptome sequencing, which identified key genes and signalling pathways. Rack1 exhibited significant interactions among differentially expressed genes on GDs 15 and 16. Reduced Rack1 expression in the ARM-affected hindgut, verified by Rack1 silencing in intestinal epithelial cells, led to increased P38 phosphorylation and activation of the MAPK signalling pathway. The suppression of this pathway downregulated Nqo1 and Gpx4 expression, resulting in elevated intracellular levels of ferrous ions, reactive oxygen species (ROS) and lipid peroxides. Downregulation of Gpx4 expression in the ARM hindgut, coupled with Rack1 co-localisation and consistent mitochondrial morphology, indicated ferroptosis. In summary, Rack1, acting as a hub gene, modulates ferrous ions, lipid peroxides, and ROS via the P38-MAPK/Nqo1/Gpx4 axis. This modulation induces ferroptosis in intestinal epithelial cells, potentially influencing hindgut development during ARM onset.
PubMed: 38523594
DOI: 10.1111/cpr.13618 -
BMC Pediatrics Mar 2024Anorectal malformations (ARMs) are the most common congenital anomaly of the digestive tract. And colostomy should be performed as the first-stage procedure in neonates...
BACKGROUND
Anorectal malformations (ARMs) are the most common congenital anomaly of the digestive tract. And colostomy should be performed as the first-stage procedure in neonates diagnosed with intermediate- or high-type ARMs. However, the most classic Pe˜na's colostomy still has some disadvantages such as complicated operation procedure, susceptibility to infection, a greater possibility of postoperative incision dehiscence, difficulty of nursing and large surgical trauma and incision scarring when closing the stoma. We aimed to explore the effectiveness of middle descending colon-double lumen ostomy (MDCDLO) in the treatment of high and intermediate types of anorectal malformations.
METHODS
We retrospectively reviewed the data of patients who underwent MDCDLO for high or intermediate types of ARMs between June 2016 and December 2021 in our hospital. The basic characteristics were recorded. All patients were followed up monthly to determine if any complication happen.
RESULTS
There were 17 boys and 6 girls diagnosed with high or intermediate types of ARMs in our hospital between June 2016 and December 2021. All 23 patients were cured without complications such as abdominal incision infection, stoma stenosis, incisional hernia, and urinary tract infection in the postoperative follow-up time of 6 months to 6 years except one case of proximal intestinal prolapse was restored under anesthesia.
CONCLUSION
MDCDLO offers the advantages of simplicity, efficiency, safety, mild trauma, and small scarring in the treatment of high and intermediate types of anorectal malformations.
Topics: Infant, Newborn; Male; Female; Humans; Anorectal Malformations; Retrospective Studies; Cicatrix; Colon, Descending; Colostomy
PubMed: 38521911
DOI: 10.1186/s12887-024-04695-1 -
Journal of Pediatric Surgery Jun 2024Despite surgical advances for complex congenital colorectal conditions, such as anorectal malformation (ARM) and Hirschsprung disease (HD), many adolescents require... (Review)
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.
RESULTS
Eight studies were identified that included patient and parent (n = 188), and/or clinician perspectives (n = 334). Patients and clinicians agreed that transitional care should commence early in adolescence to support transfer to adult care when a suitable level of maturation is reached. There was little evidence from patients that transfer happened in a timely or coordinated manner. Patients felt that clinicians did not always understand the significance of transfer to adult services. No models of transition care were identified. Surgeons ranked ARM and HD as the most common conditions to experience delayed transfer to adult care. Beyond pediatric surgeons, patients also highlighted the importance of general practitioners, transitional care coordinators and peer support groups for successful transition.
CONCLUSIONS
There is little research focused on transitional care for patients with ARM and HD. Given evidence of delayed transfer and poor experiences, the development of models of transitional care appears essential.
Topics: Humans; Transition to Adult Care; Adolescent; Anorectal Malformations; Adult; Hirschsprung Disease; Child; Young Adult
PubMed: 38493027
DOI: 10.1016/j.jpedsurg.2024.02.012 -
Archives de Pediatrie : Organe Officiel... Apr 2024
Topics: Humans; Esophageal Atresia; Anorectal Malformations; Duodenal Obstruction; Intestinal Atresia
PubMed: 38485570
DOI: 10.1016/j.arcped.2023.10.013 -
Cureus Feb 2024This case report presents a rare occurrence of triplication of the sigmoid, an unusual congenital anomaly, in a nine-month-old male with a known history of anorectal...
This case report presents a rare occurrence of triplication of the sigmoid, an unusual congenital anomaly, in a nine-month-old male with a known history of anorectal malformation. The patient, previously diagnosed with anal atresia and a rectourethral (prostatic) fistula, was admitted for the closure of his divided sigmoidostomy as the final step in correcting his anorectal malformation. Unexpectedly, during the release of the distal stoma, the presence of three distinct bowel lumens was discovered. To discern the native bowel, catheters were introduced into each lumen before proceeding with the excision of the triplicated sigmoid and subsequent stoma closure. This case underscores the complexity of diagnosing and managing unusual GI anomalies in the context of anorectal malformations, emphasizing the challenges encountered during surgical interventions.
PubMed: 38476811
DOI: 10.7759/cureus.54000 -
American Journal of Medical Genetics.... Jul 2024We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony... (Review)
Review
We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal/arterial anomalies and renal anomalies) and OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), also known as cloacal exstrophy. OEIS is included under the recently proposed umbrella coined recurrent constellations of embryonic malformations (RCEMs). The RCEMs represent a phenotypically overlapping spectrum of rare disorders of caudal dysgenesis with unknown cause but likely shared pathogenesis. It has recently been proposed that LUMBAR be considered an RCEM. This report of infants with combined features of OEIS and LUMBAR is the first to demonstrate an overlap between LUMBAR and another RCEM, which supports LUMBAR's inclusion within the RCEM spectrum.
Topics: Humans; Anus, Imperforate; Abnormalities, Multiple; Female; Male; Infant, Newborn; Urogenital Abnormalities; Hernia, Umbilical; Infant; Syndrome; Cloaca; Hemangioma; Phenotype; Spine; Scoliosis
PubMed: 38450833
DOI: 10.1002/ajmg.a.63582 -
Journal of Pediatric Surgery Feb 2024Controlled outcomes into adulthood for females with anorectal malformation (ARM) are still scantily studied. The primary aim was to investigate bowel function, bladder...
BACKGROUND
Controlled outcomes into adulthood for females with anorectal malformation (ARM) are still scantily studied. The primary aim was to investigate bowel function, bladder function and health-related quality of life (HRQoL) in females operated for ARM.
METHODS
A cross-sectional questionnaire-based observational study was performed including females treated for ARM at our institution between 1994 and 2017. The bowel function was assessed with bowel function score (BFS) and urinary tract function with lower urinary tract symptoms (LUTS) questionnaires. HRQoL was investigated with validated age-dependent questionnaires. Patient characteristics were retrospectively retrieved from the medical records and descriptive statistics were used for analysis. HRQoL outcomes were compared with normative data whilst bowel and bladder function outcomes were compared to age-matched female controls.
RESULTS
Forty-four (41.5 %) of 106 females responded to the questionnaires. Ten of 29 patients (34.5 %) aged 4-17 years and 4 of 14 patients (28.6%) aged ≥18 years, reported a well-preserved bowel function (BFS≥17). Constipation issues decreased with age. BFS was similar in patients with perineal and vestibular fistulas. Thirty-six (83.7%) of the patients had at least one LUTS. No adult patients had issues with involuntary urinary leakage. Adults scored significantly (p = 0.004) lower than normative data regarding HRQoL, while children and adolescents scored comparably to norm data.
CONCLUSIONS
Only 28.6 % of the adult patients reported a well-preserved bowel function, similar to the proportion reported by children 4-17 years of age. Adult patients appear to have a diminished HRQoL, however the correlation with BFS was weak.
LEVEL OF EVIDENCE
III.
PubMed: 38443293
DOI: 10.1016/j.jpedsurg.2024.02.011 -
Indian Journal of Pathology &... Apr 2024Multicystic dysplastic kidney (MCDK) is defined as the presence of multiple noncommunicating cysts of various sizes, detected sonographically, without evidence of...
OBJECTIVES
Multicystic dysplastic kidney (MCDK) is defined as the presence of multiple noncommunicating cysts of various sizes, detected sonographically, without evidence of functioning renal parenchyma on dimercaptosuccinic acid renal scan. It has an incidence of 1:4000 live births. They are more commonly diagnosed in boys, usually on the left side, but may also be bilateral. There is the presence of primitive ducts surrounded by fibromuscular connective tissue. These are because of the disturbed connection of the ureteric bud with renal blastema and abnormal division at the stage of metanephros, resulting in an abnormal metanephros differentiation.
MATERIALS AND METHODS
Thirty cases of MCDK were included to study their histomorphology along with their clinical features. Cases were retrieved from the last seven years (2015-2021) from the Department of Pathology, Maulana Azad Medical College.
RESULT
Age ranged from 10 days to 18 years. The cases were between 1 years and 5 years of age. Six out of 30 cases (20%) were infants with three of them being neonates. Twenty-one cases were males. All the cases had unilateral kidney involvement with the left kidney being involved in 20 out of 30 cases. Twenty-eight cases underwent nephrectomy in view of small contracted nonfunctional kidneys with one of them being horseshoe shaped. Five cases had associated hydronephrosis (two ipsilateral and three bilateral). One case had Hirshprung's disease, four had anorectal malformation, two had posterior urethral valves with vesicourethral reflux, one had duplex moiety, and one had undescended testes. On histopathological examination, all of them showed the presence of immature disorganized tubules surrounded by a collarette of immature mesenchymal stroma. One of the cases showed osteoid formation and four had areas of immature cartilage. Normal kidney parenchyma was seen at the periphery in four cases.
CONCLUSION
This series has been presented to highlight the various histomorphological features of MCDK. MCDK can be managed conservatively in most of cases due to autoinvolution and, hence, needs to be differentiated from other close differentials like polycystic kidney disease, cystic nephroma, and cystic partially differentiated nephroblastoma in order to avoid unnecessary surgical intervention.
Topics: Humans; Multicystic Dysplastic Kidney; Male; Female; Tertiary Care Centers; Child; Infant; Adolescent; Child, Preschool; Infant, Newborn; Kidney; Nephrectomy
PubMed: 38427756
DOI: 10.4103/ijpm.ijpm_202_23 -
Journal of Indian Association of... 2024Complications following posterior sagittal anorectoplasty (PSARP) for ARM are well known. In this article, we present our experience of managing five patients who...
AIMS AND OBJECTIVES
Complications following posterior sagittal anorectoplasty (PSARP) for ARM are well known. In this article, we present our experience of managing five patients who required major redo surgeries for complications resulting from previous attempts to correct ARM.
MATERIALS AND METHODS
We reviewed all patients who underwent major redo surgeries in our hospital for complications from previous repairs for ARM, from June 2013 to June 2019. Data was obtained from hospital records and analysed.
RESULTS
Five patients whose ages ranged from 5 months to 14 years were included in the study. Four were boys and 1 was a girl. All patients had undergone PSARP in other hospitals. The presentations were retained distal bowel causing urinary retention and constipation (n=1), pulled through proximal urethra and bladder neck presenting as passage of urine from neo-anus (n=1), retained common channel (of cloaca) causing a 'H' type configuration (n=1), mispositioned neo-anus (n=1) following a primary PSARP and lastly undivided recto-urethral fistula causing fecaluria (n=1). All of them underwent redo repairs by posterior sagittal approach with documented improvement in their symptoms. Two of them required total bowel management to remain clean.
CONCLUSION
All the complications reported here have been described in literature nevertheless, this report will add to the body of experience. Posterior sagittal approach (PSA) has proved to be very successful technique in correcting these complications.
PubMed: 38405235
DOI: 10.4103/jiaps.jiaps_101_23