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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 -
Innovative Surgical Sciences Dec 2021Ileus following surgery can arise in different forms namely as paralytic ileus, adhesive small bowel obstruction or as anastomotic stenosis. The incidences of these...
OBJECTIVES
Ileus following surgery can arise in different forms namely as paralytic ileus, adhesive small bowel obstruction or as anastomotic stenosis. The incidences of these different forms of ileus are not well known after abdominal birth defect surgery in infants. Therefore, this review aims to estimate the incidence in general between abdominal birth defects.
CONTENT
Studies reporting on paralytic ileus, adhesive small bowel obstruction or anastomotic stenosis were considered eligible. PubMed and Embase were searched and risk of bias was assessed. Primary outcome was the incidence of complications. A meta-analysis was performed to pool the reported incidences in total and per birth defect separately.
SUMMARY
This study represents a total of 11,617 patients described in 152 studies of which 86 (56%) had a follow-up of at least half a year. Pooled proportions were calculated as follows; paralytic ileus: 0.07 (95%-CI, 0.05-0.11; =71%, p≤0.01) ranging from 0.14 (95% CI: 0.08-0.23) in gastroschisis to 0.05 (95%-CI: 0.02-0.13) in omphalocele. Adhesive small bowel obstruction: 0.06 (95%-CI: 0.05-0.07; =74%, p≤0.01) ranging from 0.11 (95% CI: 0.06-0.19) in malrotation to 0.03 (95% CI: 0.02-0.06) in anorectal malformations. Anastomotic stenosis after a month 0.04 (95%-CI: 0.03-0.06; =59%, p=0.30) ranging from 0.08 (95% CI: 0.04-0.14) in gastroschisis to 0.02 (95% CI: 0.01-0.04) in duodenal obstruction. Anastomotic stenosis within a month 0.03 (95%-CI 0.01-0.10; =81%, p=0.02) was reviewed without separate analysis per birth defect.
OUTLOOK
This review is the first to aggregate the known literature in order approximate the incidence of different forms of ileus for different abdominal birth defects. We showed these complications are common and the distribution varies between birth defects. Knowing which birth defects are most at risk can aid clinicians in taking prompt action, such as nasogastric tube placement, when an ileus is suspected. Future research should focus on the identification of risk factors and preventative measures. The incidences provided by this review can be used in those studies as a starting point for sample size calculations.
PubMed: 35937853
DOI: 10.1515/iss-2020-0042 -
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 -
European Journal of Pediatric Surgery :... Oct 2023Rectal atresia (RA) affects only 1 to 2% of all children with anorectal malformations. No consensus on optimal treatment strategy is yet achieved. Therefore, the aim of...
Rectal atresia (RA) affects only 1 to 2% of all children with anorectal malformations. No consensus on optimal treatment strategy is yet achieved. Therefore, the aim of this systematic review is to summarize all surgical interventions for RA and outcomes described in the current literature. A literature search was conducted in PubMed, Embase, Web of Science, and Cochrane Library on January 24, 2022. All studies describing treatment for RA in children (< 18 years) were included. Operation technique and postoperative complications were listed. Only descriptive analysis was anticipated. Quality of the studies was assessed using Johanna Briggs Institute critical appraisal checklist for case reports and series. The search yielded 6,716 studies of which, after duplicate removal, 4,028 were excluded based on title and abstract screening. After full-text assessment, 22 of 90 studies were included, yielding 70 patients. Posterior sagittal anorectoplasty (PSARP) and pull-through were most performed (43/70 and 18/70 patients, respectively). Four patients experienced postoperative complications: anal stenosis ( = 1), anastomotic stenosis ( = 2), and death due to a pulmonary complication ( = 1). In the low-quality literature available, most patients with RA are treated with PSARP or pull-through technique. A low complication rate of both has been described but follow-up was often not mentioned. Larger well-designed studies should be performed to determine optimal treatment strategy for children with RA. This study reflects level of evidence V.
Topics: Humans; Child; Anorectal Malformations; Constriction, Pathologic; Anal Canal; Rectum; Rectal Diseases; Postoperative Complications; Retrospective Studies; Treatment Outcome
PubMed: 36516962
DOI: 10.1055/s-0042-1758152 -
Medicina (Kaunas, Lithuania) Oct 2020Anorectal atresia (ARA) is a common congenital anomaly, but prenatal diagnosis is difficult, late, and unspecific. Utilizing a case of a 46 year old primipara with an...
Anorectal atresia (ARA) is a common congenital anomaly, but prenatal diagnosis is difficult, late, and unspecific. Utilizing a case of a 46 year old primipara with an egg donation In Vitro Fertilization (IVF) pregnancy, diagnosed at the first trimester scan with an anechoic isolated structure, which indicates anal atresia, we performed a systematic literature review in order to evaluate early prenatal ARA diagnosis. A total of 16 cases were reported as first trimester ARA suspicion, and only three had no associated anomalies. The most frequent ultrasound (US) sign was the presence of a cystic, anechoic pelvic structure of mainly tubular shape, or a plain abdominal cyst. In the majority of cases, structures were thin-walled and delimitated from the bladder. The presence of hyperechoic spots signifying enterolithiasis and peristaltic movements were helpful in order to establish the bowel origin of the lesion. Considering the high eventuality that the lesion is transitory, meaning later in pregnancy the fetus looks normal, early detection of such a sign should prompt further structural detailed evaluation, karyotyping, and appropriate pregnancy and postnatal counselling.
Topics: Anorectal Malformations; Female; Fetus; Humans; Middle Aged; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis; Ultrasonography; Ultrasonography, Prenatal
PubMed: 33143152
DOI: 10.3390/medicina56110583 -
Urology Case Reports May 2024Bladder duplication (BD) is a rare malformation that is often associated to other anomalies. We report a newborn diagnosed with BD in the sagittal plane, associated to...
Bladder duplication (BD) is a rare malformation that is often associated to other anomalies. We report a newborn diagnosed with BD in the sagittal plane, associated to persistent urogenital sinus (UGS), given the opening of the vagina immediately below the bladder neck. It is the fourth time this association is reported. Surgical repair was made: both bladders were joined, the common channel was left as urethra and the vagina was descended with a vaginoplasty with an intestinal segment. She also presented an anterior anus, that required posterior mobilization. The patient is currently 3 years old with good sphincter control.
PubMed: 38645772
DOI: 10.1016/j.eucr.2024.102736