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Journal of Indian Association of... 2017
PubMed: 28413298
DOI: 10.4103/jiaps.JIAPS_23_17 -
Medical Journal, Armed Forces India Oct 2018
PubMed: 30449925
DOI: 10.1016/j.mjafi.2017.07.006 -
Neurogastroenterology and Motility Dec 2022Children with anorectal malformations may experience constipation and fecal incontinence following repair. The contribution of altered anorectal function to these... (Review)
Review
BACKGROUND
Children with anorectal malformations may experience constipation and fecal incontinence following repair. The contribution of altered anorectal function to these persistent symptoms is relatively intuitive; however, colonic motility in this cohort is less well understood. Manometry may be used to directly assess colonic motility.
PURPOSE
The purpose of this systematic review was to synthesize the available evidence regarding post-operative colonic motility in children with anorectal malformations and evaluate the reported equipment and protocols used to perform colonic manometry in this cohort. This systematic review was conducted in compliance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). We conducted a systematic review of four databases: Embase, MEDLINE, PubMed, and the Cochrane Library (1 January 1985-22 July 2021). Studies reporting colonic manometry performed in children following anorectal malformation repair were assessed for eligibility. Data were extracted independently by two authors. Four studies were eligible for inclusion. Of the combined total cohort of 151 children, post-operative colonic manometry was conducted in 35. Insufficient reporting of medical characteristics, bowel function, and manometric outcomes restricted comparison between studies, and limited clinical applicability. No results from high-resolution colonic manometry were identified. Despite the prevalence of post-operative bowel dysfunction in children with repaired anorectal malformations, this systematic review highlighted the markedly limited evidence regarding post-operative colonic motility. This cohort may benefit from assessment with high-resolution techniques; however, future work must emphasize adherence to standardized manometry protocols, and include robust reporting of surgical characteristics, bowel function, and manometric outcomes.
Topics: Child; Humans; Anorectal Malformations; Rectum; Anal Canal; Manometry; Colon; Constipation; Fecal Incontinence
PubMed: 35699343
DOI: 10.1111/nmo.14415 -
Journal of Pediatric and Adolescent... Dec 2021Cloacal malformations are among the most complex types of anorectal malformation and are characterized by the urological, genital, and intestinal tracts opening through... (Review)
Review
Cloacal malformations are among the most complex types of anorectal malformation and are characterized by the urological, genital, and intestinal tracts opening through a single common channel in the perineum. Long-term outcome is affected by multiple factors, which include anatomical variants of the malformation itself, associated anomalies, and the surgical approach. Reconsidering these variables and their influence on "patient important" function might lead to strategies that are more outcome-driven than focused on the creation of normal anatomy. Key outcomes reflect function in each of the involved tracts and the follow-up needed should therefore not only include the classical fields of colorectal surgery and urology but also focus on items such as gynecology, sexuality, family-building, and quality of life as well as other psychological aspects. Involving patients and families in determining optimal treatment strategies and outcome measures could lead to improved outcomes for the individual patient. A strategy to support delivery of personalized care for patients with cloacal malformations by aiming to define the best functional outcomes achievable for any individual, then select the treatment pathway most likely deliver that, with the minimum morbidity and cost, would be attractive. Combining the current therapies with ongoing technological advances such as tissue expansion might be a way to achieve this.
Topics: Anal Canal; Animals; Anorectal Malformations; Child; Cloaca; Humans; Postoperative Care; Quality of Life
PubMed: 34419606
DOI: 10.1016/j.jpag.2021.08.009 -
Birth Defects Research Mar 2022Deficiency of Conserved Oligomeric Golgi (COG) subunits (COG1-8) is characterized by both N- and O-protein glycosylation defects associated with destabilization and...
BACKGROUND
Deficiency of Conserved Oligomeric Golgi (COG) subunits (COG1-8) is characterized by both N- and O-protein glycosylation defects associated with destabilization and mislocalization of Golgi glycosylation machinery components (COG-CDG). Patients with COG defects present with neurological and multisystem involvement and possible malformation occurrence. Eighteen patients with COG6-CDG (COG6 mutations) were reported to date. We describe a patient with COG6-CDG with novel variants and a novel clinical feature namely a congenital recto-vaginal fistula.
METHODS
In-depth serum N- and O-glycosylation structural analyses were conducted by MALDI-TOF mass spectrometry. COG6 variants were identified by a gene panel and confirmed by Sanger sequencing.
RESULTS
This female newborn presented with facial dysmorphism, distal arthrogryposis and recurrent stool discharges per vaginam. A double-contrast barium-enema X-ray study revealed a dehiscence (approximately 5 mm) at the anterior wall of the rectal ampoule communicating with the vagina consistent with a recto-vaginal fistula. She had developmental delay, corpus callosum dysgenesis, liver and gastrointestinal involvement, hyperthermia episodes and early demise. Serum N- and O-glycosylation analyses pointed to a profound Golgi disarrangement. We identified two novel variants in COG6: a deletion of 1 bp mutation c.823delA creating a shift in the reading frame and a premature stop codon and a 3 bp deletion (c.1141_1143delCTC) producing an in-frame deletion of 1 amino acid.
CONCLUSION
The congenital recto-vaginal fistula is a rare type of anorectal malformation that, to our knowledge, has not been reported in patients with a COG6 defect nor in patients with other COG defects. This study broadens COG6-CDG genetic landscape and spectrum of malformations.
Topics: Adaptor Proteins, Vesicular Transport; Congenital Disorders of Glycosylation; Female; Glycosylation; Golgi Apparatus; Humans; Infant, Newborn; Vaginal Fistula
PubMed: 35068072
DOI: 10.1002/bdr2.1981 -
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 -
Birth Defects Research Feb 2023We examined the total prevalence, trends in prevalence, and age-specific mortality among individuals with anorectal malformation (ARM) METHODS: We conducted a...
We examined the total prevalence, trends in prevalence, and age-specific mortality among individuals with anorectal malformation (ARM) METHODS: We conducted a retrospective cohort study using data from 24 population- and hospital-based birth defects surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) from 18 countries and for births from 1974 to 2014. We estimated pooled and program-specific total prevalence per 10,000 total births. Poisson regression was used to assess time trends in prevalence from 2001 to 2012 when most programs contributed data. We calculated selected age-specific proportions of deaths, stratified by case status RESULTS: The pooled total prevalence of ARM was 3.26 per 10,000 total births (95% Confidence Interval = 3.19, 3.32) for birth years 1974-2014. About 60% of cases were multiple or syndromic. Prevalence of multiple, syndromic, and stillborn cases decreased from 2001 to 2012. The first week mortality proportion was 12.5%, 3.2%, 28.3%, and 18.2% among all, isolated, multiple, and syndromic cases, respectively CONCLUSIONS: ARM is relatively rare, with multiple and syndromic cases showing decreasing prevalence during the study period. Mortality is a concern during the first week of life, and especially among multiple and syndromic cases. Our descriptive epidemiological findings increase our understanding of geographic variation in the prevalence of ARM and can be used to plan needed clinical services. Exploring factors influencing prevalence and mortality among individuals with ARM could inform future studies.
Topics: Pregnancy; Female; Humans; Child; Prevalence; Anorectal Malformations; Retrospective Studies; Stillbirth; Parturition
PubMed: 36401554
DOI: 10.1002/bdr2.2129 -
African Journal of Paediatric Surgery :... Jan 2024Male congenital urethrocutaneous fistula is an extremely rare anomaly that is commonly associated with chordee or anorectal malformations. It is characterised by an...
Male congenital urethrocutaneous fistula is an extremely rare anomaly that is commonly associated with chordee or anorectal malformations. It is characterised by an abnormal urethral opening on the ventral aspect of the penis with well-formed distal urethra and meatus at the tip of the glans. The treatment is individualised according to the site of the fistula, associated anomalies and condition of the distal urethra. The principles of hypospadias surgery should be strictly followed.
Topics: Male; Humans; Hypospadias; Anorectal Malformations; Urethra
PubMed: 38259026
DOI: 10.4103/ajps.ajps_97_22 -
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 Indian Association of... 2023Gastrointestinal (GI) duplications are rare congenital malformations with diverse presentations. They usually present in the pediatric age, especially in the first 2...
CONTEXT
Gastrointestinal (GI) duplications are rare congenital malformations with diverse presentations. They usually present in the pediatric age, especially in the first 2 years of life.
AIMS
To present our experience with GI duplication (cysts) at a pediatric surgery tertiary care teaching institute.
SETTINGS AND DESIGN
It is a retrospective observational study undertaken in the department of pediatric surgery at our center between 2012 and 2022 for GI duplications.
MATERIALS AND METHODS
All children were analyzed for their age, sex, presentation, radiological evaluation, operative management, and outcomes.
RESULTS
Thirty-two patients were diagnosed with GI duplication. Slight male predominance was present in the series (M: F ≈ 4:3). Fifteen (46.88%) patients presented in the neonatal age group; 26 (81.25%) patients were under 2 years. In the majority of cases ( = 23, 71.88%), the presentation was acute onset. Double duplication cysts on opposite sides of the diaphragm were present in one case. The most common location was ileum ( = 17), followed by gallbladder ( = 6), appendix ( = 3), gastric ( = 1), jejunum ( = 1), esophagus ( = 1), ileocecal junction ( = 1), duodenum ( = 1), sigmoid ( = 1), and anal canal ( = 1). Multiple associations (malformations/surgical pathologies) were present. Intussusception ( = 6) was the most common, followed by intestinal atresia ( = 5), anorectal malformation ( = 3), abdominal wall defect ( = 3), hemorrhagic cyst ( = 1), Meckel's diverticulum ( = 1), and sacrococcygeal teratoma ( = 1). Four cases were associated with intestinal volvulus, three cases with intestinal adhesions, and two with intestinal perforation. Favorable outcomes were present in 75% of cases.
CONCLUSION
GI duplications have varied presentations depending on site, size, type, local mass effect, mucosal pattern, and associated complications. The importance of clinical suspicion and radiology cannot be underrated. Early diagnosis is required to prevent postoperative complications. Management is individualized as per the type of duplication anomaly and its relation with the involved GI tract.
PubMed: 37197242
DOI: 10.4103/jiaps.jiaps_108_22