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Journal of Pediatric Surgery Mar 2022This is a commentary on the manuscript entitled "Long-term active problems in patients with cloacal exstrophy: a systematic review" by Musleh L, Privitera L, Paraboschi...
This is a commentary on the manuscript entitled "Long-term active problems in patients with cloacal exstrophy: a systematic review" by Musleh L, Privitera L, Paraboschi I, et al.
Topics: Animals; Anorectal Malformations; Anus, Imperforate; Bladder Exstrophy; Cloaca; Hernia, Umbilical; Humans
PubMed: 34563356
DOI: 10.1016/j.jpedsurg.2021.09.004 -
Journal of Pediatric Surgery May 2020This study aims to compare the prevalence and outcomes of surgically correctable congenital anomalies between sexes. (Meta-Analysis)
Meta-Analysis
PURPOSE
This study aims to compare the prevalence and outcomes of surgically correctable congenital anomalies between sexes.
METHODS
Upon registration on PROSPERO (CRD42019120165), a librarian aided in conducting a systematic review using PRISMA guidelines. The five largest relevant studies were included for each anomaly. Cumulative prevalence differences and confidence intervals were calculated, and the Cochran-Mantel-Haenszel test was performed.
RESULTS
Of 42,722 identified studies, 68 were included in our analysis. All included anomalies had greater than 1000 patients except duodenal atresia (n = 787) and intestinal duplication (n = 148). Males had a significantly higher prevalence than females in 10/14 anomalies (Hirschsprung's disease, omphalomesenteric duct, congenital diaphragmatic hernia, anorectal malformation, malrotation, esophageal atresia, congenital pulmonary airway malformation, intestinal atresia, omphalocele, and gastroschisis; p < 0.001). There was no difference in the prevalence of duodenal atresia or intestinal duplication between sexes (p = 0.88 and 0.65, respectively). Females had a significantly higher prevalence of biliary anomalies (atresia and choledochal cyst).
CONCLUSION
Our study indicates that males have higher prevalence rates of most congenital anomalies. Further investigations are required to illuminate the embryology underlying this sex distribution and whether sex influences outcomes.
TYPE OF STUDY
Systematic review and meta-analysis.
LEVEL OF EVIDENCE
Prognostic study, level II.
Topics: Congenital Abnormalities; Female; Humans; Infant; Infant, Newborn; Male; Sex Factors
PubMed: 32061363
DOI: 10.1016/j.jpedsurg.2020.01.016 -
Journal of Ultrasound in Medicine :... Sep 2017This systematic review outlines the role of sonography in an imperforate anus. The diagnostic performance for type of imperforate anus is superior on the day after birth... (Review)
Review
This systematic review outlines the role of sonography in an imperforate anus. The diagnostic performance for type of imperforate anus is superior on the day after birth than that on the day of birth by using the pouch-perineum distance. Three approaches can be used (suprapubic, infracoccygeal, and perineal). The pouch-perineum distance, fistula location, and relationship between the puborectalis muscle and distal rectal pouch are useful for classifying the type of imperforate anus. However, the pouch-perineum distance measured has an overlap between the low and high/intermediate types of imperforate anus. Sonography can be useful for some of the associated anomalies and helpful for surgeons in some cases.
Topics: Anal Canal; Anus, Imperforate; Humans; Ultrasonography
PubMed: 28480580
DOI: 10.1002/jum.14228 -
BMC Pediatrics May 2016Although anorectal malformations (ARMs) are frequently encountered, rare variants difficult to classify have been reported. (Review)
Review
BACKGROUND
Although anorectal malformations (ARMs) are frequently encountered, rare variants difficult to classify have been reported.
METHODS
This study describes a patient with ARM and rectopenile fistula. The literature was reviewed systematically to assess the anatomical characteristics, clinical presentations and operations of this rare type of ARM.
RESULTS
Eight patients were reported in the six included articles. In three patients, the fistula extended from the rectum to the anterior urethra without communication with the skin. In one patient, the fistula, located deep in corpus spongiosum, opened to the ventral aspect of the penis without communication with the urethra. In the remaining four patients, the fistula extended from the rectum to the cutaneous orifice in the ventral aspect of penis, with communication or a short common channel with the urethra.
CONCLUSIONS
Imperforate anus with fistula extending into the penis is a rare variant of anorectal malformation. Unawareness of this lesion resulted in a delay of correct diagnosis and appropriate management. A thorough examination, including colonourethrography and fistulography, should be performed in all patients with a fistula opening in the ventral aspect of the penis.
Topics: Anorectal Malformations; Anus, Imperforate; Humans; Infant, Newborn; Male; Penile Diseases; Rectal Fistula; Urethral Diseases; Urinary Fistula
PubMed: 27176040
DOI: 10.1186/s12887-016-0604-z -
African Journal of Paediatric Surgery :... 2018Congenital anterior urethrocutaneous fistula (CAUF) is a rare anomaly characterized by fistulization of penile urethra to skin. It's usually seen as an isolated...
Congenital anterior urethrocutaneous fistula (CAUF) is a rare anomaly characterized by fistulization of penile urethra to skin. It's usually seen as an isolated deformity or may accompany genitourinary or anorectal malformations. We aim to define the common properties of patients mentioned in literatures by systematic review. A comprehensive search of PubMed, Embase, Web of Science, and Cochrane Library was performed including cross-referencing independently by two assessors. Selections were restricted to human studies in English. Based on the systematic review, 63 patients in 34 articles were included in the study. Most common fistula site was subcoronal in 29 (46.0%) patients. Chordee was in 8 (14.5%) and associated genitourinary anomaly was detected in 19 (30.2%) of patients. Fistula recurrence ratio was 6/59 (11.3%) using different surgical techniques and 3/6 was closed spontaneously. CAUF is frequently located in subcoronal level and usually an intact urethra distal to it. Success rates are high with the principles of hypospadias surgery.
Topics: Cutaneous Fistula; Humans; Male; Recurrence; Urethra; Urethral Diseases; Urinary Fistula; Urologic Surgical Procedures, Male
PubMed: 31290465
DOI: 10.4103/ajps.AJPS_97_17 -
Journal of Pediatric Surgery May 2024Studies examining functional outcomes and health-related quality of life for patients with congenital surgical anomalies (CSA) are increasingly common. However, the... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
Studies examining functional outcomes and health-related quality of life for patients with congenital surgical anomalies (CSA) are increasingly common. However, the prevalence of mental health disorders in this population has not been determined. The purpose of this review is to summarize the reported prevalence of mental health disorders in children born with gastrointestinal CSA.
METHODS
A systematic review of the literature was conducted on Medline (OVID), EMBASE (OVID), CINAHL (EbscoHost), and Scopus to identify studies reporting mental health diagnoses in children with a gastrointestinal CSA. A meta-analysis of the prevalence of anxiety disorders and depressive disorders was completed.
RESULTS
Of 2546 manuscripts, seven met the inclusion criteria. All included manuscripts looked at patients with anorectal malformation (ARM) and/or Hirschsprung disease (HD). No studies assessed other gastrointestinal CSAs. A total of 183 psychiatric diagnoses were reported in 1167 patients. A pooled analysis of ARM patients revealed a 14.0% prevalence of anxiety disorders (N = 208; CI = 4.4-23.4%) and an 18.75% prevalence of depressive disorders (N = 48; CI = 7.7-29.8%). A pooled analysis of HD patients revealed a 15.8% prevalence of anxiety disorders (N = 19; CI = 0.6-32.2%) and a 4.75% prevalence of depressive disorders (N = 758; CI = 3.23-6.26%).
CONCLUSIONS
There is a paucity of evidence on mental health outcomes of individuals born with gastrointestinal CSA. However, the available evidence suggested a high prevalence of mental health diagnoses in individuals born with ARM or HD with 1 in 7 having an anxiety disorder. Additionally, 1 in 5 ARM patients and 1 in 20 HD patients were diagnosed with a depressive disorder.
TYPE OF STUDY
Systematic review and meta-analysis.
LEVEL OF EVIDENCE
IV.
Topics: Child; Female; Humans; Mental Health; Prevalence; Quality of Life; Mental Disorders; Anorectal Malformations; Hirschsprung Disease; Anxiety
PubMed: 38388285
DOI: 10.1016/j.jpedsurg.2024.01.047 -
Medicina (Kaunas, Lithuania) Nov 2020Caudal duplication syndrome is a rare association of anatomical anomalies describing duplication of the hindgut, spine, and uro-genital structures, leading to varied...
Caudal duplication syndrome is a rare association of anatomical anomalies describing duplication of the hindgut, spine, and uro-genital structures, leading to varied clinical presentations. The current literature focuses on case reports which describe the embryological etiology and anatomical spectrum of the condition giving little attention to the surgical preparation, the need for a well-structured follow-up program, or the transition into adult healthcare of these complex patients. No reviews have been published regarding this complex pathology. : A review of caudal duplication syndrome cases was done to assess the range of the clinical malformations, timing, and types of surgical interventions. Inconsistencies in multidisciplinary care, follow-up, and risk events were described. Hindgut duplication always involved the anorectal region. Anorectal malformations were evenly distributed as unilateral and bilateral. Colon duplication extended from the anal region to the transverse colon or ascending colon in most of the cases and less to terminal. In females, genital duplication was present in all cases. The follow-up period varied between 3 months and 12 years. In all adult females, the motive of presentation was related to pregnancy (complications after successful delivery, fertility evaluation) or late complications (fecalith obstruction of the end-to-side colon anastomosis, repeated UTIs with renal scarring). : Complex malformations affecting multiple caudal organs may have a strong impact in many aspects of the long-term quality of life; therefore, patients with caudal duplication syndrome need increased awareness and joined multidisciplinary treatment.
Topics: Adult; Anorectal Malformations; Colon; Female; Follow-Up Studies; Humans; Quality of Life; Rectum
PubMed: 33260808
DOI: 10.3390/medicina56120650 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Dec 2019To explore the genetic etiology of a child with moderate mental retardation and multiple malformations.
OBJECTIVE
To explore the genetic etiology of a child with moderate mental retardation and multiple malformations.
METHODS
The child and his parents underwent conventional G banding karyotype analysis and single nucleotide polymorphism-based mircoarray (SNP-array) scan. A systematic review for chromosome 13q deletions was also conducted to explore the correlation between genotype and clinical phenotypes.
RESULTS
G banding karyotype of the child showed a partial deletion in the long arm of chromosome 13 described as 46,XY,del(13)(q32). SNP-array detected a deletion fragment of 11.367 Mb in 13q32.1-q33.3 region, which encompassed 30 OMIM (Online Mendelian Inheritance in Man) genes including FARP1, STK24 and ZIC2. The parents were found with no obvious abnormality in their karyotypes and SNP-array results, suggesting a de novo origin for the deletion. Combined with previous reported cases, chromosomal 13q deletions seem to have various pathogenic effects on the patients.
CONCLUSION
Chromosomal 13q32.1-q33.3 deletion probably underlies the disease phenotype in the child, and EFNB2 may be a candidate gene for congenital heart defect, genital malformation, hypospadias and anorectal malformations.
Topics: Abnormalities, Multiple; Child; Chromosome Banding; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 13; Humans; Karyotyping; Male
PubMed: 31813151
DOI: 10.3760/cma.j.issn.1003-9406.2019.12.016 -
Journal of Pediatric Gastroenterology... May 2024Refractory functional constipation is a challenging condition to manage in children. The use of transanal irrigation (TAI) is well reported in children with neurological... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
Refractory functional constipation is a challenging condition to manage in children. The use of transanal irrigation (TAI) is well reported in children with neurological disorders as well as anorectal malformations but less so in children with functional disorders of defecation. The objective of our study was to evaluate the effectiveness, safety and outcomes of TAI in children with functional constipation.
METHODS
PubMed, Scopus and Google Scholar were searched for publications related to the use of TAI in functional constipation. Data regarding the study design, sample size, patient characteristics, investigator-reported response to TAI and adverse effects were extracted from studies that met the selection criteria. The inverse variance heterogeneity model was used for ascertaining the summary effect in this meta-analysis.
RESULTS
The search strategy yielded 279 articles of which five studies were included in the final review. The studies were from the United Kingdom (n = 2), Netherlands (n = 2) and Denmark (n = 1). These studies included 192 children with a median age ranging from 7 to 12.2 years old. The TAI systems used in these studies were: Peristeen (n = 2), Peristeen or Qufora (n = 1), Alterna (n = 1) and Navina (n = 1). The follow-up duration ranged from 5.5 months to 3 years. Eleven (5.7%) children did not tolerate TAI and withdrew from treatment soon after initiation. The pooled investigator-reported success of TAI was 62% (95% CI: 52%-71%). The most common adverse event was pain which was experienced by 21.7% of children. A total of 27 (14%) were successfully weaned off TAI at the last follow-up.
CONCLUSIONS
TAI is reported to be successful in 62% of children with refractory functional constipation. There is a need for well-designed prospective trials to evaluate this treatment option in children with refractory functional constipation.
Topics: Humans; Constipation; Child; Therapeutic Irrigation; Anal Canal; Treatment Outcome
PubMed: 38558090
DOI: 10.1002/jpn3.12200 -
Pediatric Surgery International Jul 2012The optimal timing of ostomy closure is a matter of debate. We performed a systematic review of outcomes of early ostomy closure (EC, within 8 weeks) and late ostomy... (Review)
Review
PURPOSE
The optimal timing of ostomy closure is a matter of debate. We performed a systematic review of outcomes of early ostomy closure (EC, within 8 weeks) and late ostomy closure (LC, after 8 weeks) in infants with necrotizing enterocolitis.
METHODS
PubMed, EMbase, Web-of-Science, and Cinahl were searched for studies that detailed time to ostomy closure, and time to full enteral nutrition (FEN) or complications after ostomy closure. Patients with Hirschsprung's disease or anorectal malformations were excluded. Analysis was performed using SPSS 17 and RevMan 5.
RESULTS
Of 778 retrieved articles, 5 met the inclusion criteria. The median score for study quality was 9 [range 8-14 on a scale of 0 to 32 points (Downs and Black, J Epidemiol Community Health 52:377-384, 1998)]. One study described mean time to FEN: 19.1 days after EC (n = 13) versus 7.2 days after LC (n = 24; P = 0.027). Four studies reported complication rates after ostomy closure, complications occurred in 27% of the EC group versus 23% of the LC group. The combined odds ratio (LC vs. EC) was 1.1 [95% CI 0.5, 2.5].
CONCLUSION
Evidence that supports early or late closure is scarce and the published articles are of poor quality. There is no significant difference between EC versus LC in the complication rate. This systematic review supports neither early nor late ostomy closure.
Topics: Enterocolitis, Necrotizing; Humans; Infant; Infant, Low Birth Weight; Infant, Newborn; Infant, Premature; Infant, Premature, Diseases; Ostomy; Postoperative Complications; Time Factors
PubMed: 22526553
DOI: 10.1007/s00383-012-3091-9