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The Pan African Medical Journal 2021anorectal malformation is a multi-systemic birth defect of the distal gastrointestinal tract, the management of which is challenging to the surgeons, the patients and...
INTRODUCTION
anorectal malformation is a multi-systemic birth defect of the distal gastrointestinal tract, the management of which is challenging to the surgeons, the patients and the parents. The presence of associated congenital malformations may worsen the outcome with consequent psychosocial effects on the patients and the parents. The characteristics of anorectal malformations with the challenges associated with their management and the outcomes are therefore presented here.
METHODS
all patients managed for anorectal malformations from January 2003 to December 2017 were studied. Patients´ demography, clinical presentations, types of malformations, associated anomalies, procedures performed, post-operative complications and management outcome were obtained and analysed.
RESULTS
eighty-eight children with anorectal malformations comprising 61 (69.3%) boys and 27 (30.7%) girls were studied with 76 (86.3%) patients presenting within the first year of life. Low anorectal malformation was observed in 14 (15.9%) patients, 71 (80.7%) patients had intermediate or high malformations and cloacal malformation was present in 3 (3.4%) patients. Associated congenital malformations were observed in 18 (20.5%) patients with 10 (55.6%) patients associated with intermediate or high malformations and urogenital system was the most common system whose anomalies were associated with anorectal malformations in 12 (13.6%) patients. Anoplasty was performed on 14 (15.9%) patients, posterior sagittal anorectoplasty was performed on 67 (76.1%) patients, abdominosacroperineal pull through on 4 (4.6%) patients and posterior sagittal anorectovaginourethroplasty on 3 (3.4%) patients. Six (6.8%) neonates died.
CONCLUSION
immediate post-operative outcome was good; however, good functional outcome can only be assessed in an atmosphere of good follow-up which is still a problem in our environment.
Topics: Anorectal Malformations; Child; Child, Preschool; Digestive System Surgical Procedures; Female; Humans; Infant; Infant, Newborn; Male; Nigeria; Postoperative Complications; Plastic Surgery Procedures; Treatment Outcome
PubMed: 34046120
DOI: 10.11604/pamj.2021.38.214.21690 -
Scientific Reports Sep 2021The aim of this study was to assess whether adolescents following anorectal malformation repair have a decreased cardiorespiratory performance capacity and impaired... (Observational Study)
Observational Study
The aim of this study was to assess whether adolescents following anorectal malformation repair have a decreased cardiorespiratory performance capacity and impaired motor skills. All eligible children treated for ARMs between 2000 and 2014 were invited to participate in a prospective study consisting of a clinical examination, evaluation of Bowel function and Quality of Life, spirometry, spiroergometry and assessment of the motor activity. The results were compared to a healthy age- and sex-matched control group. There was no statistically significant difference in height, weight, BMI, muscle mass or body fat percentage between the study and the control group. Nine out of 18 patients (50%) had an excellent functional outcome with a normal Bowel Function Score. Spirometry revealed no significant differences between ARM patients and controls, four patients showed a ventilation disorder. Spiroergometry revealed a significantly lower relative performance capacity and the overall rating of the motor activity test showed significantly decreased grades in ARM patients. ARM patients were affected by an impaired cardiopulmonary function and decreased motor abilities. Long-term examinations consisting of routine locomotor function evaluation and spiroergometry are advisable to detect impaired cardiopulmonary function and to prevent a progression of associated complications and related impaired quality of life.
Topics: Adolescent; Anorectal Malformations; Cardiorespiratory Fitness; Child; Exercise Test; Female; Humans; Locomotion; Male; Postoperative Period; Prospective Studies; Quality of Life; Spirometry; Surveys and Questionnaires; Treatment Outcome
PubMed: 34556713
DOI: 10.1038/s41598-021-98368-z -
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 -
Journal of Indian Association of... 2023Posterior sagittal is a very well accepted approach in the treatment of anorectal malformations. This approach provides good access and exposure through the perineum to...
BACKGROUND
Posterior sagittal is a very well accepted approach in the treatment of anorectal malformations. This approach provides good access and exposure through the perineum to the deep pelvic structures. It reduces risk of injury to important structures as dissection remains in midline.
AIMS AND OBJECTIVES
To access feasibility of posterior sagittal approach for non-anorectal malformation indications and to widen the spectrum.
MATERIAL AND METHODS
We present a series of 10 cases of non-anorectal malformations operated by this approach for 4 years.
RESULTS
Six patients included in the study were of Disorders of Sexual Differentiation with pseudovagina, three of Y duplication of the urethra, and one of cervical atresia. All patients had good results.
CONCLUSION
Posterior sagittal approach is feasible, safe with minimal bleeding, and no postoperative incontinence. It can safely be used for non-anorectal indications.
PubMed: 37389391
DOI: 10.4103/jiaps.jiaps_162_22 -
Frontiers in Pediatrics 2021The triad of anorectal malformation (ARM), labioscrotal fold malformation, and perineal mass has rarely been reported before. The purpose of this study was to review...
The triad of anorectal malformation (ARM), labioscrotal fold malformation, and perineal mass has rarely been reported before. The purpose of this study was to review our experience in these patients, describe their characteristics, and discuss the possible pathogenesis. Seven pediatric patients diagnosed with ARM associated with both labioscrotal fold malformation and perineal mass were included in this study. Medical records of these patients were retrospectively reviewed, and follow-up was held through telephone contact or outpatient service. Among the seven patients were six females and one male, and the age at surgery was between 5.2 and 12.4 months. The ratio of lateral-type to mid-perineum-type labioscrotal fold malformation was 5:2. The ARM type was all rectoperineal fistula. Operation was excision of the malformation and perineal mass at the same time of anoplasty. The pathology was lipoma (three cases), fibroma (one case), lipofibroma (one case), angiolipoma (one case), and mesenchymal hamartoma (one case). All the seven patients had no wound complication, and during the follow-up period of 7-100 months after surgery, none of the seven patients suffered perineal mass recurrence. Bowel control was satisfactory in the follow-up period. There is a low incidence for the triad of ARM, labioscrotal fold malformation, and perineal mass. The nature of this disease is neoplastic overgrowth of intervening mesenchymal tissue, which impedes the continuity of caudal development into normal labioscrotal fold and affects the extension of urorectal septum, leading to ARM. Prognosis is mainly dependent on the type of ARM.
PubMed: 33643976
DOI: 10.3389/fped.2021.627188 -
Journal of Korean Medical Science Apr 2020Fifty to sixty percent of patients with anorectal malformation (ARM) have at least one associated anomaly (AA). We determined the incidence of AA with the subtypes of...
BACKGROUND
Fifty to sixty percent of patients with anorectal malformation (ARM) have at least one associated anomaly (AA). We determined the incidence of AA with the subtypes of ARM classified in accordance with the Krickenbeck classification and analyzed differences in the incidence rates of major and minor AAs according to organ system.
METHODS
From January 1999 to May 2017, we retrospectively analyzed congenital anomalies in patients who underwent an anoplasty for ARM at our institution. The AAs were divided into nine organ systems. To analyze the difference in the incidence of AAs, we calculated odds ratios (ORs) using cases of perineal fistula as the base group.
RESULTS
Of the 460 patients, 256 (55.7%) were male, 299 (65%) had at least one anomaly, and 274 (59.6%) had major AAs. According to organ system, AAs were most common in the genitourinary (28%), cardiovascular (25%), and spinal/vertebral systems (22.6%). Major AA was most common in the cardiovascular (23%) and spinal/vertebral and genitourinary systems (19.3%). According to ARM subtype, AAs were common in the order of cloaca (93.9%), rectovaginal fistula (85.7%), and recto-bladder neck fistula (85%). For the incidence of AAs, cloaca (OR, 15.7) and recto-bladder neck fistula (OR, 5.74) showed significantly higher ORs. In the analysis of major AAs, the cloaca (OR, 19.77) showed the highest OR, followed by no fistula (OR, 4.78) and recto-bladder neck fistula (OR, 3.83).
CONCLUSION
A considerable number of patients with ARM had AAs. Our data are useful for predicting AAs in patients with ARM.
Topics: Anorectal Malformations; Birth Weight; Female; Fistula; Humans; Incidence; Male; Retrospective Studies
PubMed: 32281315
DOI: 10.3346/jkms.2020.35.e98 -
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 -
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 -
Children (Basel, Switzerland) Feb 2023Anorectal malformations (ARMs) are rare and involve a wide spectrum of malformations. Prenatal diagnosis is often incomplete, and the diagnostic pathway is started...
Anorectal malformations (ARMs) are rare and involve a wide spectrum of malformations. Prenatal diagnosis is often incomplete, and the diagnostic pathway is started during the newborn period to identify the type of malformation and the correct treatment. This retrospective study included patients between 8 and 18 y.o. diagnosed with ARM, referring to Our Clinic. We proposed two questionnaires, Rintala Bowel Function Score and the Fecal Incontinence Quality of Life Scale, and we defined four groups referring to surgical timing (age in months < 3, 3-6, 6-9, >9). In total, 74 patients were recruited (mean age 13.05 ± 2.80 y.o.), and data analysis showed a significant relationship between comorbidity and surgical timing. Moreover, timing was related to outcome in terms of fecal continence (better if surgery performed before 3 months) and Quality of Life (QoL). QoL, however, is influenced by other factors (emotional and social life, psychological sphere and take of care of chronic disease). We considered rehabilitation programs, more often practiced by children who underwent surgery after 9 months, to maintain an appropriate relational life. This study highlights the importance of surgical timing as the first step of a multidisciplinary follow-up, taking care of the child in every phase of his growth, tailored to the single patient.
PubMed: 36832533
DOI: 10.3390/children10020404 -
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