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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 -
BMC Pediatrics Jan 2024To analyze the clinical characteristics and types of congenital heart defect (CHD) in mild congenital anorectal malformation (CARM), namely the rectoperineal and...
OBJECTIVE
To analyze the clinical characteristics and types of congenital heart defect (CHD) in mild congenital anorectal malformation (CARM), namely the rectoperineal and rectovestibular fistulas.
METHODS
The retrospective study of 183 patients with mild CARM was conducted with assessments of demographic information, color Doppler echocardiography results, and follow-up data. We performed an analysis of the clinical characteristics of CHD, grouping them based on sex and type of mild CARM.
RESULTS
Of the 183 patients, rectoperineal fistula occurred in 133 patients (72.7%), while the frequency of CHD was 79.8% (146/183). Ventricular septal defects (VSDs) occur more frequently in patients with rectoperineal fistula compared to those with rectovestibular fistula (1.5% vs. 10%), while the opposite trend was observed for patent ductus arteriosus (PDAs) (39.8% vs. 22.0%). Additionally, males presented higher frequency of PDA (42.7% vs. 26.4%) and self-healing (6 months: 87.2% vs. 42.6%; 12 months: 91.0% vs. 63.2%) than females. However, males had a lower rate of undergoing cardiac surgery (6.4% vs. 17.6%) and a younger median diagnosis age (1 day vs. 9 days).
CONCLUSION
Our study indicates that there is a necessity for meticulous cardiac assessment and follow-up in neonates diagnosed with mild CARM.
Topics: Infant, Newborn; Male; Female; Humans; Anorectal Malformations; Retrospective Studies; Heart Defects, Congenital; Ductus Arteriosus, Patent; Fistula
PubMed: 38245711
DOI: 10.1186/s12887-023-04518-9 -
Kidney International Reports Jun 2024Townes-Brocks syndrome (TBS), a rare autosomal dominant genetic condition associated with (Spalt like Transcription Factor 1), is reported to be present in 1:238,000...
INTRODUCTION
Townes-Brocks syndrome (TBS), a rare autosomal dominant genetic condition associated with (Spalt like Transcription Factor 1), is reported to be present in 1:238,000 individuals in the general population. TBS is characterized by the triad of anorectal malformations, dysplastic ears, with or without hearing impairment, and hand or thumb anomalies. Although kidney involvement is less common in TBS, the disease can progress to kidney failure. Here, we sought to characterize the incidence of variants in individuals undergoing broad-based genetic testing with a kidney gene panel and to quantify the presence of (extra)renal features.
METHODS
A retrospective analysis of the genetic data from a 385-gene panel identified cases with a pathogenic (P) or likely pathogenic (LP) variant in . Data including age, features, and disease progression were collected.
RESULTS
Of 35,044 samples, P or LP variants in were identified in 22, yielding a prevalence of 1:1592 among patients tested for monogenic kidney disease, and 1:342 among cases identified with a monogenic kidney disease. Among this cohort, the median patient age was 23 years (range: 3 months-62 years) with chronic kidney disease (CKD) reported in 91% (20/22) of cases. Reported kidney features included renal agenesis/hypoplasia (7/22; 32%), focal segmental glomerulosclerosis (4/22; 18%), and kidney cysts (3/22; 14%). Confirmed extrarenal features included hearing loss and/or ear features (7/22; 32%), anorectal malformations (6/22; 27%) and hand or thumb abnormalities (4/22; 18%). Three patients (3/22; 14%) had both TBS diagnoses and the traditional "triad."
CONCLUSION
Traditionally, a molecular diagnosis was ascertained primarily in individuals presenting with cardinal features of TBS; therefore, individuals with mild or atypical presentations were often overlooked clinically. Our findings reveal that P/LP variants could be a consequential contributor to monogenic kidney disease.
PubMed: 38899216
DOI: 10.1016/j.ekir.2024.03.030 -
The Journal of Pediatrics May 2024To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies,...
OBJECTIVE
To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies.
STUDY DESIGN
These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists.
RESULTS
After 2 Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement. 98% of panelists agreed with the diagnostic criteria, and 100% agreed the criteria would be useful in clinical practice. The diagnosis of LUMBAR requires the presence of a segmental, or patterned, infantile hemangioma of the lumbosacral, sacrococcygeal, or pelvic cutaneous regions plus one additional criterion of the urogenital, spinal, bony, anorectal, arterial, or renal organ systems.
CONCLUSIONS
These diagnostic criteria will enhance clinical care by improving screening, detection, and overall awareness of this poorly understood neurocutaneous disorder. The criteria can be utilized by a wide variety of pediatric subspecialists. In addition, formal criteria will improve phenotypic uniformity among LUMBAR syndrome cohorts and a patient registry, allowing investigators to assess clinical features, long-term outcomes, and results of genetic sequencing in a standardized manner. Finally, these criteria will serve as a starting point for prospective studies to establish formal screening and management guidelines.
PubMed: 38759778
DOI: 10.1016/j.jpeds.2024.114101 -
Journal of Pediatric Surgery Oct 2023To explore nurses' experiences with anal dilatations in babies with anorectal malformations.
AIMS AND OBJECTIVES
To explore nurses' experiences with anal dilatations in babies with anorectal malformations.
BACKGROUND
Most babies with anorectal malformations require repeated anal dilatations, either before and/or after reconstructive surgery. Anal dilatation is usually performed without sedation or pain medication. Nurses participate in anal dilatations by assisting doctors doing anal dilatation, doing anal dilatation themselves, and instructing parents how to do anal dilatations. No previous studies have explored how nurses experience being involved in anal dilatations.
DESIGN
Qualitative study design utilizing focus group interviews. The COREQ guidelines were applied.
METHODS
Nurses with either ≤2 or ≥10 years' working experience participated in two different focus group interviews. The focus group interviews were transcribed and analyzed with content analysis.
RESULTS
Twelve nurses, two males, participated. Three main themes emerged from the focus group interviews. The first main theme, "Anal dilatation causes distress", describes the nurses' worries about causing physical and/or psychological harm when doing anal dilatations. The second main theme, "Need for guidelines and training", contains nurses' recommendations for more theoretical training in addition to written guidelines on anal dilatations. The third main theme, "Collegial support is vital", describes nurses' needs and strategies for coping with difficult situations related to anal dilatations.
CONCLUSIONS
Anal dilatation causes distress in nurses, and collegial support is essential for coping. Guidelines and systematic training are recommended to improve current practice.
LEVEL OF EVIDENCE
VI.
Topics: Male; Infant; Humans; Anorectal Malformations; Focus Groups; Dilatation; Qualitative Research; Nurses
PubMed: 37246043
DOI: 10.1016/j.jpedsurg.2023.04.021 -
Journal of Pediatric Surgery Apr 2024Congenital anorectal stenosis is managed by dilations or operative repair. Recent studies now propose use of dilations as the primary treatment modality to potentially...
PURPOSE
Congenital anorectal stenosis is managed by dilations or operative repair. Recent studies now propose use of dilations as the primary treatment modality to potentially defer or eliminate the need for surgical repair. We aim to characterize the management and outcomes of these patients via a multi-institutional review using the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry.
METHODS
A retrospective database review was performed using the PCPLC registry. The patients were evaluated for demographics, co-morbidities, diagnostic work-up, surgical intervention, current bowel management, and complications.
RESULTS
64 patients with anal or rectal stenosis were identified (57 anal, 7 rectal) from a total of 14 hospital centers. 59.6% (anal) and 42.9% (rectal) were male. The median age was 3.2 (anal) and 1.9 years (rectal). 11 patients with anal stenosis also had Currarino Syndrome with 10 of the 11 patients diagnosed with a presacral mass compared to only one rectal stenosis with Currarino Syndrome and a presacral mass. 13 patients (22.8%, anal) and one (14.3%, rectal) underwent surgical correction. Nine patients (8 anal, 1 rectal) underwent PSARP. Other procedures performed were cutback anoplasty and anterior anorectoplasty. The median age at repair was 8.4 months (anal) and 10 days old (rectal). One patient had a wound complication in the anal stenosis group. Bowel management at last visit showed little differences between groups or treatment approach.
CONCLUSION
The PCPLC registry demonstrated that these patients can often be managed successfully with dilations alone. PSARP is the most common surgical repair chosen for those who undergo surgical repair.
LEVEL OF EVIDENCE
III.
PubMed: 38735806
DOI: 10.1016/j.jpedsurg.2024.04.007 -
Cirugia Pediatrica : Organo Oficial de... Jan 2024There are multiple tools available to optimize defecation in patients with anorectal malformation (ARM), such as habits, laxatives, and retrograde or anterograde...
INTRODUCTION
There are multiple tools available to optimize defecation in patients with anorectal malformation (ARM), such as habits, laxatives, and retrograde or anterograde irrigations, which are usually adapted in a progressive and combined fashion. The objective of this study was to assess the incorporation of transanal irrigation (TAI) to constipation and fecal incontinence treatment in patients with ARM.
MATERIALS AND METHODS
A retrospective study of ARM patients with indication of TAI according to the colorectal pathology unit's intestinal management protocol from 2015 to 2022 was carried out. Following use for over 3 months, patients or their guardians completed a phone survey of our own approved by the ethics committee.
RESULTS
39 ARM patients participated in the study. Pathologies included 11 rectourethral fistulas, 6 rectovesical fistulas, 16 cloacae, 2 rectovaginal fistulas, 2 perineal fistulas, and 2 vestibular fistulas. 44% of them had a sacral index < 0.4. 62% had constipation, and 38% had incontinence. Thanks to TAI, confidence and safety improved in a very high and a high degree in 89% of the patients, whereas time devoted to intestinal management decreased a lot in 68% of them. 79% reported a 9- and 10-point quality-of-life improvement. 92% rated overall satisfaction with TAI with a score of 8, 9, and 10 - 10 meaning "completely satisfied." 100% recommend TAI.
CONCLUSION
TAI is a good alternative for the intestinal management of fecal incontinence and constipation.
Topics: Female; Humans; Anorectal Malformations; Fecal Incontinence; Retrospective Studies; Gastrointestinal Diseases; Constipation; Rectovaginal Fistula
PubMed: 38180097
DOI: 10.54847/cp.2024.01.12 -
Journal of Pediatric Surgery Jan 2024Vesico-ureteral reflux (VUR) is a common associated urological anomaly in anorectal malformation (ARM)-patients. High-grade VUR requires antibiotic prophylaxis to...
BACKGROUND
Vesico-ureteral reflux (VUR) is a common associated urological anomaly in anorectal malformation (ARM)-patients. High-grade VUR requires antibiotic prophylaxis to prevent urinary tract infections (UTI's), renal scarring and -failure. The exact prevalence of high-grade VUR in ARM patients is unknown. Hence, the aim of this study was determining the incidence of high-grade VUR in ARM-patients, and its associated risk factors.
METHODS
A multicenter retrospective cohort study was performed using the ARM-Net registry, including data from 34 centers. Patient characteristics, screening for and presence of renal anomalies and VUR, sacral and spinal anomalies, and sacral ratio were registered. Phenotypes of ARM were grouped according to their complexity in complex and less complex. Multivariable analyses were performed to detect independent risk factors for high-grade (grade III-V) VUR.
RESULTS
This study included 2502 patients (50 % female). Renal screening was performed in 2250 patients (90 %), of whom 648 (29 %) had a renal anomaly documented. VUR-screening was performed in 789 patients (32 %), establishing high-grade VUR in 150 (19 %). In patients with a normal renal screening, high-grade VUR was still present in 10 % of patients. Independent risk factors for presence of high-grade VUR were a complex ARM (OR 2.6, 95 %CI 1.6-4.3), and any renal anomaly (OR 3.3, 95 %CI 2.1-5.3).
CONCLUSIONS
Although renal screening is performed in the vast majority of patients, only 32 % underwent VUR-screening. Complex ARM and any renal anomaly were independent risk factors for high-grade VUR. Remarkably, 10 % had high-grade VUR despite normal renal screening. Therefore, VUR-screening seems indicated in all ARM patients regardless of renal screening results, to prevent sequelae such as UTI's, renal scarring and ultimately renal failure.
TYPE OF STUDY
Observational Cohort-Study.
LEVEL OF EVIDENCE
III.
PubMed: 38355337
DOI: 10.1016/j.jpedsurg.2024.01.008 -
Yonago Acta Medica Nov 2023In recent years, the number of neonatal surgeries has been on the rise despite the decline in the number of births, and we examined the actual trends and problems at...
BACKGROUND
In recent years, the number of neonatal surgeries has been on the rise despite the decline in the number of births, and we examined the actual trends and problems at Tottori University Hospital located in the Sanin region.
METHODS
Medical records were retrospectively searched for patients who underwent major surgery during the neonatal period (within 30 days of age) at the Tottori University Hospital over the past 10 years (Jan. 2011 to Dec. 2020).
RESULTS
Sixty-five cases were included. Early birth infants (< 37 gestational weeks) comprised 15 cases (23%) and low birth weight (< 2500 g) infants involved 27 cases (42%). In the latter half (2016-2020), early birth and low birth weight infants were significantly less than in the first half (2011-2015). The common diseases were anorectal malformation (14 cases), esophageal atresia (10), duodenal atresia (10), and diaphragmatic hernia (9). Prenatal diagnosis was obtained in 26 cases (40%), with high diagnostic rate obtained in duodenal atresia (100%), abdominal wall defect (100%), ileal atresia (75%), meconium peritonitis (67%), and diaphragmatic hernia (67%). Fifty-five cases (85%) were operated on within 7 days of age. Other major malformations were associated in 23 cases (35%). There were 6 deaths (9%), of which 3 cases were low birth weight infants with gastrointestinal perforation, 2 cases with severe chromosomal abnormalities (esophageal atresia, omphalocele), and 1 case with diaphragmatic hernia with severe pulmonary hypertension. Home medical care has been required with gastrostomy tube in 2 cases.
CONCLUSION
Neonatal surgery at Tottori University has been well performed as required with acceptable results along with the progression of other perinatal care. However, further investigation for improvements in premature delivery or organ hypoplasia may be required.
PubMed: 38028267
DOI: 10.33160/yam.2023.11.003 -
European Journal of Pediatric Surgery :... Apr 2024Patient-reported outcome measures (PROMs) can be employed in both research and clinical care to enhance our understanding of outcomes that matter to patients. This... (Review)
Review
A Narrative Review of Patient-Reported Outcome Measures and Their Application in Recent Pediatric Surgical Research: Advancing Knowledge and Offering New Perspectives to the Field.
INTRODUCTION
Patient-reported outcome measures (PROMs) can be employed in both research and clinical care to enhance our understanding of outcomes that matter to patients. This narrative review aims to describe PROM use in recent pediatric surgical research, identify and describe psychometrically robust PROMs, providing an overview of those derived from pediatric patient input, and make recommendations for future research.
MATERIALS AND METHODS
A search was conducted to identify articles published from 2021 to August 2023 describing the availability and/or use of at least one valid or reliable PROM in children with conditions including anorectal malformations, biliary atresia, congenital diaphragmatic hernia, duodenal atresia, esophageal atresia, abdominal wall defects, Hirschsprung's disease, sacrococcygeal teratoma, and short bowel syndrome. Articles were categorized based on their objectives in applying PROMs. Psychometrically robust PROMs were identified and described.
RESULTS
Out of the 345 articles identified, 49 met the inclusion criteria. Seventeen focused on esophageal atresia and 14 on Hirschsprung's disease. Twenty-nine PROMs were identified, with 12 deemed psychometrically robust. Seven psychometrically robust PROMs were developed using patient input in the primary item generation. Most PROMs were applied to advance understanding of conditions and/or treatment and fewer were developed or psychometrically evaluated. No PROMs were assessed for their impact or incorporated into an implementation study.
CONCLUSIONS
This review reveals gaps in the application of PROMs in recent pediatric surgical research. Emphasis should be placed on the development and utilization of psychometrically robust PROMs, broadening the scope of covered diseases, conducting impact assessments, and evaluating implementation strategies.
Topics: Humans; Child; Quality of Life; Hirschsprung Disease; Patient Reported Outcome Measures; Short Bowel Syndrome
PubMed: 38272041
DOI: 10.1055/s-0043-1778108