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Clinics in Perinatology Dec 2022Anorectal malformations occur in 1 in 3000 to 5000 children, and present with a marked variety in type and severity. Most of the malformations are diagnosed in the early... (Review)
Review
Anorectal malformations occur in 1 in 3000 to 5000 children, and present with a marked variety in type and severity. Most of the malformations are diagnosed in the early neonatal period, as an antenatal diagnosis remains relatively elusive. Following diagnosis, an accurate assessment and focused management is crucial to reduce the potential for morbidity and mortality. This review focuses on the investigation and management of newborns with anorectal malformations, and the introduction of novel assessment tools for the more complex malformation types.
Topics: Child; Infant, Newborn; Female; Humans; Pregnancy; Anorectal Malformations; Parturition; Prenatal Diagnosis; Morbidity; Rectum; Anal Canal
PubMed: 36328611
DOI: 10.1016/j.clp.2022.08.002 -
Pediatric Surgery International Sep 2015Anorectal malformation (ARM) is a congenital anomaly commonly encountered in pediatric surgery practice. Although surgical procedures correct the anatomical anomalies,... (Review)
Review
Anorectal malformation (ARM) is a congenital anomaly commonly encountered in pediatric surgery practice. Although surgical procedures correct the anatomical anomalies, the post-operative bowel function is not universally satisfactory. The etiology of ARM remains unclear. In this review, we summarize the current understanding of the genetic and epigenetic factors contributing to the pathogenesis of ARM, based on published animal models, human genetics and epidemiological researches. Appreciation of these factors may be helpful in the management of ARM in the future.
Topics: Anal Canal; Anorectal Malformations; Anus, Imperforate; Genetic Predisposition to Disease; Humans; Infant, Newborn; Rectum; Risk Factors
PubMed: 25899933
DOI: 10.1007/s00383-015-3685-0 -
European Journal of Pediatric Surgery :... Aug 2019The embryology of anorectal malformation (ARM) is a controversial issue. The study in humans is difficult due to the scarcity of fetuses with this anomaly. Therefore,... (Review)
Review
The embryology of anorectal malformation (ARM) is a controversial issue. The study in humans is difficult due to the scarcity of fetuses with this anomaly. Therefore, ARM animal models, naturally obtained or induced by drugs, have been employed to understand physiopathology and possible treatments. Pigs, rabbits, rats, and mice have been employed as animal models. Additionally, many drugs have been used with this purpose: Etretinate, Ethylenethiourea, and Adriamycin. The animal more frequently used is the rat because of good reproducibility, low cost, and easy handling. Pig is a good model, but it is expensive, and difficult to handling and lodging. Concerning the drugs, Adriamycin promotes a more severe ARM compared with Ethylenethiourea. The models of ARM are of value in the understanding of the embryologic development. Nowadays, researches are aimed at identifying the molecular mechanism of this process, providing the basis for the application of tissue engineering in future experiments with ARM.
Topics: Animals; Anorectal Malformations; Disease Models, Animal; Humans; Translational Research, Biomedical
PubMed: 31426116
DOI: 10.1055/s-0039-1694743 -
Pediatric Surgery International Aug 2022Children with anorectal malformation (ARM) often continue to have disturbances in bowel function long after reconstructive surgery. Anorectal manometry may be utilized... (Review)
Review
Children with anorectal malformation (ARM) often continue to have disturbances in bowel function long after reconstructive surgery. Anorectal manometry may be utilized to evaluate bowel function in these children. We aimed to describe the reported protocols and manometric findings in children with ARM post-reconstructive surgery and to investigate the correlation between manometric evaluation and bowel functional outcome. PubMed, EMBASE, and Google Scholar databases were searched from 1980 to 2021. Data were reviewed and extracted independently by two authors, in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses. Included studies were English articles reporting postoperative assessment of children (≤ 18 years) with ARM using anorectal manometry. From 128 articles obtained in the initial search, five retrospective cohort studies and one prospective study fulfilled inclusion criteria. The rectoanal inhibitory reflex and mean anal resting pressure were parameters most often reported to correlate with postoperative bowel function. The least reported parameters among the studies were high-pressure zone, rectal volume, and rectal sensation. Anorectal manometry could be an objective method providing important information for personalized management of postoperative ARM patients with bowel function issues, but lack of standardized protocols limits a comprehensive analysis of their utility.
Topics: Anal Canal; Anorectal Malformations; Child; Fecal Incontinence; Humans; Manometry; Prospective Studies; Rectum; Retrospective Studies
PubMed: 35727358
DOI: 10.1007/s00383-022-05152-9 -
Sultan Qaboos University Medical Journal Aug 2022
Topics: Anorectal Malformations; Humans; Male; Penis
PubMed: 36072063
DOI: 10.18295/squmj.9.2021.139 -
Seminars in Pediatric Surgery Dec 2020In this review, the care of children with a previously repaired anorectal malformation is explored. We know that the surgical care of children with anorectal... (Review)
Review
In this review, the care of children with a previously repaired anorectal malformation is explored. We know that the surgical care of children with anorectal malformations is complex; however, despite an increased understanding of the congenital anomaly and significant technical advances in the operative repair, many of these children continue to have poor functional outcomes. In this article we focus on the common surgical complications, discuss typical presentations, consider appropriate investigations, and review the risks and benefits of revisional surgery in those patients that are 'not doing well' following their primary reconstruction.
Topics: Abnormalities, Multiple; Aftercare; Anorectal Malformations; Digestive System Surgical Procedures; Humans; Postoperative Care; Postoperative Complications; Plastic Surgery Procedures; Reoperation; Treatment Outcome
PubMed: 33288142
DOI: 10.1016/j.sempedsurg.2020.150995 -
Congenital Anomalies Jan 2021
Review
Topics: Anorectal Malformations; Clinical Decision-Making; Colon, Ascending; Disease Management; Female; Humans; Infant, Newborn; Intestinal Atresia; Laparoscopy; Male; Radiography, Abdominal
PubMed: 32901979
DOI: 10.1111/cga.12392 -
Scientific Reports Jan 2021The anorectal malformation with long perineal fistula is a rare anomaly in the spectrum of anorectal malformations. Aim of the study is to describe the series of...
The anorectal malformation with long perineal fistula is a rare anomaly in the spectrum of anorectal malformations. Aim of the study is to describe the series of patients with anorectal malformation with long perineal fistula and compare the outcome with patient with standard perineal fistula. From March 2012 to January 2019, 7 patients who suffered from anorectal malformation with long perineal fistula were retrospectively reviewed. Three were operated on primarily by our department, and 4 cases were re-operated after a perineal anoplasty repair performed elsewhere. Four were operated by laparoscopy assisted anorectoplasty, and 3 cases were repaired by posterior sagittal anorectoplasty. The follow-up outcomes were compared with 71 cases of normal perineal fistula (NPF) in the same period. 7 cases have been followed up for 0.5-4 years (M = 2.57 ± 1.26) after definitive surgery. Their bowel function score was lower than normal perineal fistula (SPF = 12, range: 5-18; NPF = 18.5, range: 18-20). Four cases underwent anorectomanometry. The incidence of rectoanal inhibitory reflex was lower in the special type group. (p = 0.14). Three cases of contrast enema using barium: 2 cases of colorectal dilatation and thickening changes, 1 case showed no obvious abnormalities. Anorectal perineal fistula should be examined by distal colostogram at preoperation. This should be altered in: When suspecting a case of anorectal malformation type long perineal fistula a preoperative contrast enema could give insight of the anatomy befor performing a anoplasty.
Topics: Anal Canal; Anorectal Malformations; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Laparoscopy; Male; Rectal Fistula; Retrospective Studies
PubMed: 33462249
DOI: 10.1038/s41598-021-81056-3 -
Pediatric Surgery International Jul 2023Anorectal malformation (ARM) is often associated to other congenital malformations, requiring a tailored management. Hypospadias' treatment in ARM is poorly described.... (Review)
Review
Anorectal malformation (ARM) is often associated to other congenital malformations, requiring a tailored management. Hypospadias' treatment in ARM is poorly described. Aim of study is to describe our experience in ARM-hypospadias patients especially in relation to occult spinal dysraphism (OSD). ARM patients treated from 1999 to 2022 were retrospectively reviewed, selecting male with hypospadias. Clinical data, hypospadias's severity, ARM sub-type (Group A: perineal fistula; Group B: urethral fistula, bladder fistula, no fistula), OSD, other associated malformations, NLUTD were evaluated. Exclusion criteria: uncomplete data. Among 395 ARMs, 222 were males, 22 (10%) had hypospadias. Two patients were excluded. Group A: 8 patients, Group-B: 12. Hypospadias: proximal 9 patients, distal 11. Neuro-urological evaluation was performed before hypospadias repair. Eleven patients (55%) had OSD. Four OSD patients presented NLUTD and underwent detethering and CIC (two via cystostomy button, two via appendicostomy); two of them had hypospadias repaired. All proximal hypospadias underwent two stages of surgery. Distal hypospadias was corrected in 4/11 cases. Hypospadias is quite common in ARM patients and its surgical management must be scheduled considering the possible OSD and NLUTD, with the possible need for intermittent catheterization. Complexity of ARM and hypospadias appears to be related to each other.
Topics: Humans; Child; Male; Female; Hypospadias; Anorectal Malformations; Retrospective Studies; Urethra; Neural Tube Defects; Urinary Fistula
PubMed: 37410181
DOI: 10.1007/s00383-023-05505-y -
Pediatric Surgery International Oct 2022Urethral duplication (UD) is a rare malformation, which can be associated with other anomalies, like anorectal malformations (ARM). ARM has been described with occult...
PURPOSE
Urethral duplication (UD) is a rare malformation, which can be associated with other anomalies, like anorectal malformations (ARM). ARM has been described with occult spinal dysraphism (OSD). No ARM-UD-OSD combination has been reported.
AIM
To share our experience and to discuss the management of ARM-UD-OSD association.
METHODS
We retrospectively reviewed records of five boys with UD. Four of these had ARM-UD-OSD association. ARM was the first diagnosis in all; OSD and UD was detected during screening for associated malformation.
RESULTS
All patients underwent ARM correction, 3 after colostomy. All reached fecal continence, 3 are performing bowel management. Three patients underwent UD surgical correction. Because of symptoms' worsening, 2 children had detethering surgery. At a mean follow-up of 9.5 years, all patients have normal renal function, 3 are on clean intermittent catheterization (CIC) for neurogenic bladder (1 has a cystostomy, another one an appendicostomy).
CONCLUSIONS
UD and OSD should be considered in patients with ARM. Children with these conditions associated must be centralized in a third-level Center and management carefully planned; in particular, urethral reconstruction should be weighed, considering CIC could be required. Suspicion of neurogenic bladder must be present in OSD patient.
Topics: Anorectal Malformations; Child; Humans; Male; Neural Tube Defects; Retrospective Studies; Urinary Bladder, Neurogenic
PubMed: 35882671
DOI: 10.1007/s00383-022-05186-z