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Pediatric Surgery International May 2024Patients with anorectal malformation (ARM) and Hirschsprung's disease (HD) live with long-term impact of these diseases even into adulthood. We aimed to explore the...
PURPOSE
Patients with anorectal malformation (ARM) and Hirschsprung's disease (HD) live with long-term impact of these diseases even into adulthood. We aimed to explore the physical, social and emotional impact of these diseases in adolescents and young adults to develop best practices for transition care.
METHODS
We conducted one-on-one in-depth interviews with ARM and HD patients aged ≥ 11 years who had undergone surgery at four tertiary referral centers. All interviews were audio-recorded and transcribed verbatim. We analyzed transcripts for recurring themes, and data were collected until data saturation was reached. Three researchers independently coded the transcripts for major themes using thematic analysis approach.
RESULTS
We interviewed 16 participants (11 males) between October 2022 and April 2023. Ages ranged from 11 to 26 years. Five major themes emerged: (1) personal impact (subthemes: physical, emotional and mental health, social, school), (2) impact on family, (3) perceptions of their future (subthemes: relationships, career, state of health), (4) sources of support (subthemes: family, peers, partner), and (5) transition care (subthemes: concerns, expectations). Only females expressed concerns regarding future fertility.
CONCLUSION
This study highlights the evolving problems faced by adolescents and young adults with ARM and HD, especially gender-specific concerns. Our findings can inform efforts to provide individualized care.
Topics: Humans; Hirschsprung Disease; Female; Male; Anorectal Malformations; Adolescent; Child; Adult; Qualitative Research; Young Adult; Interviews as Topic; Quality of Life; Transition to Adult Care
PubMed: 38700671
DOI: 10.1007/s00383-024-05709-w -
American Journal of Medical Genetics.... Apr 2024Genital anomalies have been reported with VACTERL association but not considered a core feature. Acute and chronic complications stemming from unrecognized genital...
Genital anomalies have been reported with VACTERL association but not considered a core feature. Acute and chronic complications stemming from unrecognized genital anomalies have been reported in adolescents and young adults with VACTERL association. We sought to determine the frequency and severity of genital anomalies in VACTERL patients and identify which core features were more frequently associated with genital anomalies. A retrospective chart review from January 2010 to October 2021 identified 211 patients with two or more core VACTERL features, 34% of whom had a genital anomaly. The majority of genital anomalies (83% of those in males and 90% in females) were classified as functionally significant (requiring surgical intervention or causing functional impairment). The frequency of genital anomalies in the VACTERL cohort was higher if anorectal malformations or renal anomalies were present in both males and females and if vertebral anomalies were present in females. Due to their functional significance, genital anomalies should be assessed in all patients with two or more core features of VACTERL association, especially in those with anorectal or renal anomalies. Most genital anomalies in males will be detected on physical examination but additional investigation is often needed to detect genital anomalies in females. The timing and type of investigation are subjects for future study.
PubMed: 38687163
DOI: 10.1002/ajmg.a.63587 -
Children (Basel, Switzerland) Apr 2024Neonates with a new diagnosis of anorectal malformation (ARM) present a unique challenge to the clinical team. ARM is strongly associated with additional midline...
Neonates with a new diagnosis of anorectal malformation (ARM) present a unique challenge to the clinical team. ARM is strongly associated with additional midline malformations, such as those observed in the VACTERL sequence, including vertebral, cardiac, and renal malformations. Timely assessment is necessary to identify anomalies requiring intervention and to prevent undue stress and delayed treatment. We utilized a multidisciplinary team to develop an algorithm guiding the midline workup of patients newly diagnosed with ARM. Patients were included if born in or transferred to our neonatal intensive care unit (NICU), or if seen in clinic within one month of life. Complete imaging was defined as an echocardiogram, renal ultrasound, and spinal magnetic resonance imaging or ultrasound within the first month of life. We compared three periods: prior to implementation (2010-2014), adoption period (2015), and delayed implementation (2022); ≤ 0.05 was considered significant. Rates of complete imaging significantly improved from pre-implementation to delayed implementation (65.2% vs. 50.0% vs. 97.0%, = 0.0003); the most growth was observed in spinal imaging (71.0% vs. 90.0% vs. 100.0%, = 0.001). While there were no differences in the rates of identified anomalies, there were fewer missed diagnoses with the algorithm (10.0% vs. 47.6%, = 0.05). We demonstrate that the implementation of a standardized algorithm can significantly increase appropriate screening for anomalies associated with a new diagnosis of ARM and can decrease delayed diagnosis. Further qualitative studies will help to refine and optimize the algorithm moving forward.
PubMed: 38671711
DOI: 10.3390/children11040494 -
Case Reports in Pediatrics 2024Infantile hemangiomas are the most common birthmark in newborns. They are clinically diagnosed and usually self-limited. However, there are several exceptions with...
Infantile hemangiomas are the most common birthmark in newborns. They are clinically diagnosed and usually self-limited. However, there are several exceptions with aggressive types of hemangiomas that can be associated with extracutaneous anomalies, such as PHACE syndrome (posterior fossa anomalies, upper body hemangiomas, arterial anomalies, cardiac anomalies, and eye anomalies) and LUMBAR syndrome (lower body hemangiomas, ulcerations/urogenital anomalies, myelopathies, bony deformities, anorectal malformations/arterial anomalies, and renal anomalies). These two syndromes, described in the literature with distinct features, have rarely been reported in the same patient. We discuss one of the few cases reported with overlapping features of the PHACE and LUMBAR syndromes that initially presented with infantile hemangiomas, as well as other nonspecific skin and systemic findings. Minimal guidance has been described due to the need for more scientific literature. Our aim is to reinforce awareness of these two syndromes and the possibility of an overlap presentation between them. Furthermore, we emphasize the need for an interdisciplinary approach with screening for all known associations to avoid missing essential components of these syndromes that can lead to significant morbidity and lifetime complications.
PubMed: 38665932
DOI: 10.1155/2024/7501793 -
Cureus Mar 2024Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome presents with complex diagnostic and therapeutic challenges and is characterized by uterine...
Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome presents with complex diagnostic and therapeutic challenges and is characterized by uterine didelphys, obstructed hemivagina, and ipsilateral renal anomaly. A 14-year-old female with a history of anorectal malformation and urogenital sinus anomaly presented with menstrual blood in her urine, abdominal pain, and distension. Investigations revealed a bicornuate uterus, vesicovaginal fistula, and right ovarian cyst, leading to the diagnosis of OHVIRA syndrome. A multidisciplinary approach resulted in salpingo-oophorectomy and subtotal hysterectomy. This case highlights the diagnostic challenges and emphasizes the role of advanced imaging and a multidisciplinary team in managing such complex conditions. It stresses the importance of patient-centered surgical planning tailored to the individual's anatomy and reproductive goals. Early recognition and a tailored, multidisciplinary approach are crucial in managing OHVIRA syndrome and improving outcomes for patients with rare congenital anomalies.
PubMed: 38665700
DOI: 10.7759/cureus.56961 -
Archives of Disease in Childhood Jun 2024Children with anorectal malformation (ARM) and Hirschsprung's disease (HD) often experience bowel symptoms into adulthood, despite definitive surgery. This study... (Comparative Study)
Comparative Study
PURPOSE
Children with anorectal malformation (ARM) and Hirschsprung's disease (HD) often experience bowel symptoms into adulthood, despite definitive surgery. This study evaluates the quality of life (QOL) and bowel functional outcome of children treated for ARM and HD in comparison to healthy controls.
METHODS
Between December 2020 and February 2023, we recruited patients with ARM and HD aged 3-17 years at four tertiary referral centres, who had primary corrective surgery done >12 months prior. Healthy controls were age-matched and sex-matched. All participants completed the Pediatric Quality of Life Inventory Generic Core Scales 4.0, General Well-Being (GWB) Scale 3.0 and Family Impact (FI) Module 2.0 Questionnaires. Bowel Function Score (BFS) Questionnaires were also administered. We also performed subgroup analysis according to age categories. Appropriate statistical analysis was performed with p<0.05 significance. Ethical approval was obtained.
RESULTS
There were 306 participants: 101 ARM, 87 HD, 118 controls. Patients with ARM and HD had significantly worse Core and FI Scores compared with controls overall and in all age categories. In the GWB Scale, only ARM and HD adolescents (13-17 years) had worse scores than controls. ARM and HD had significantly worse BFSs compared with controls overall and in all age categories. There was significant positive correlation between BFS and Core Scores, GWB Scores and FI Scores.
CONCLUSION
Patients with ARM and HD had worse QOL than controls. Lower GWB Scores in adolescents suggests targeted interventions are necessary. Bowel function influences QOL, indicating the need for continuous support into adulthood.
Topics: Humans; Hirschsprung Disease; Quality of Life; Male; Female; Adolescent; Child; Anorectal Malformations; Cross-Sectional Studies; Child, Preschool; Case-Control Studies; Surveys and Questionnaires
PubMed: 38649254
DOI: 10.1136/archdischild-2023-326724 -
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 -
Pediatric Surgery International Apr 2024Long-term urinary outcomes after anorectal malformation (ARM) repair are affected by surgical approach and sacral anomalies. This study aimed to compare...
Comparison of postoperative urinary complications in laparoscopic-assisted anorectoplasty versus posterior sagittal anorectoplasty for anorectal malformation with rectourethral fistula.
BACKGROUND
Long-term urinary outcomes after anorectal malformation (ARM) repair are affected by surgical approach and sacral anomalies. This study aimed to compare laparoscopic-assisted anorectoplasty (LAARP) and posterior sagittal anorectoplasty (PSARP) in terms of urinary complications.
METHODS
Between 2001 and 2022, 45 patients were treated with LAARP or PSARP. The rectourethral fistula and inflow angle between the fistula and rectum was confirmed by preoperative colonography. The incidence of urinary complications and treatment were compared between the two groups.
RESULTS
Four patients (14%) had remnant fistula and five patients (17%) had neurogenic bladder dysfunction in LAARP group, while three patients (18%) had urethral injury in PSARP group. All patients with remnant fistula were asymptomatic and followed without treatment. The incidence of remnant fistula improved between earlier decade and later decade. In all cases with urethral injury, suture repair was performed and no postoperative leakage was noted. All five patients with neurogenic bladder dysfunction had spine abnormalities that required clean intermittent catheterization (CIC) and two were free from CIC finally.
CONCLUSIONS
It is important to check inflow angle preoperatively to prevent remnant fistula. For PSARP, meticulous dissection is required when separating fistula from urethra because they create common wall. The most contributing factor to neurogenic bladder is sacral anomalies. Preoperative evaluation and postoperative urinary drainage are important.
Topics: Humans; Infant; Rectum; Anorectal Malformations; Urinary Bladder, Neurogenic; Laparoscopy; Treatment Outcome; Rectal Fistula; Urinary Fistula; Urethral Diseases; Postoperative Complications; Urethra; Retrospective Studies; Anal Canal
PubMed: 38641738
DOI: 10.1007/s00383-024-05692-2 -
Journal of Pediatric Urology Mar 2024To evaluate the possible impact of patients' sacral ratios (SRs) on response to biofeedback (BF) therapy in pediatric patients with lower urinary tract dysfunction...
INTRODUCTION
To evaluate the possible impact of patients' sacral ratios (SRs) on response to biofeedback (BF) therapy in pediatric patients with lower urinary tract dysfunction (LUTD).
MATERIALS AND METHODS
In this retrospective cohort conducted from 2016 to 2018 in our tertiary medical center, we included the medical records of all pediatric patients with LUTD who were nominated for BF due to having abnormal uroflowmetry patterns and simultaneous increase in electromyography (EMG) activity. Ten sessions of weekly animated BF were performed for each patient. All patients underwent a complete urological evaluation, uroflowmetry with simultaneous EMG and post-void residual measurement before and after treatment. SRs were calculated based on plain anteroposterior lumbosacral radiographs. Patients were then divided into normal SR (≥0.74) and low SR (<0.74) and outcomes were compared between them.
RESULTS
Of the total 86 patients included in our study, 48 (55.8%) had a normal SR (≥0.74), while 38 (44.2%) had a low SR (<0.74). Our data revealed that BF therapy significantly improved maximum and average urinary flow rates, urine volume, daytime urinary incontinence, enuresis, urinary urgency and constipation; irrespective of the patients' SRs (all P < 0.001). Our between-groups analyses showed that after the completion of BF, the SR ≥ 0.74 group had significantly higher maximum urinary flow rate (mean difference [95%CI]: 7.7 [5.4, 10.0], P < 0.001) (Figure) and urine volume (mean difference [95%CI]: 49.9 [19.5, 80.4], P = 0.002) and significantly lower diurnal urinary incontinence (4.2% vs. 21.1%, P = 0.020), enuresis (4.2% vs. 18.4%, P = 0.040) and constipation (2.1% vs. 23.7%, P = 0.004) compared to the SR < 0.74 group.
DISCUSSION
SR has been proposed as a reliable indicator of bony pelvis growth and subsequent lumbosacral neurodevelopment. Additionally, larger SR values are associated with better postoperative sphincter function in children with urological and anorectal malformations. Our results demonstrated that after completion of BF, the normal SR group had a significantly better improvement of some of the uroflowmetry indicators and LUTD-associated symptoms compared to the low SR group.
CONCLUSION
Our findings implied that although BF therapy is an efficient treatment for children with LUTD, irrespective of their sacral development; children with enhanced sacral development may benefit from better clinical response, especially in terms of LUTD-associated symptoms.
PubMed: 38604908
DOI: 10.1016/j.jpurol.2024.03.025 -
Pediatric Surgery International Apr 2024Children with congenital anorectal malformation (CAM) experience challenges with defecation. This study aims to assess defecation in preschool-age children with CAM and...
OBJECTIVE
Children with congenital anorectal malformation (CAM) experience challenges with defecation. This study aims to assess defecation in preschool-age children with CAM and to evaluate the correlation between pelvic floor muscle developed assessed by magnetic resonance imaging (MRI) and postoperative defecation.
METHODS
We collected clinical data and MRI results from 89 male children with CAM. The bowel function scores for children with Perineal (cutaneous) fistula, Rectourethral fistula(Prostatic or Bulbar), and Rectovesical fistula were computed. MRI scans were subjected to image analysis of the striated muscle complex (SMC). The association between pelvic floor muscle score and bowel function score was examined using the Cochran-Armitage Trend Test.
RESULTS
We observed that 77.4% of the SMC scores by MRI for Perineal fistula were good. The Rectourethral fistula SMC score was 40.6% for moderate and 59.4% for poor. The SMC score for Rectovesical fistula was 100% for moderate. Furthermore, 77.4% of patients with Perineal fistula had bowel function scores (BFS) ≥ 17 points. Among those with Rectourethral fistula and Rectovesical fistula, 12.5% and 0 had BFS ≥ 17 points, respectively. An analysis of muscle development and bowel function in patients with Rectovesical fistula, Rectourethral fistula, and Perineal fistula revealed a correlation between SMC development and BFS. Subgroup analysis showed that the Perineal fistula had statistical significance; however, the Rectourethral fistula and Rectovesical fistula were not statistically significant.
CONCLUSION
A correlation exists between pelvic floor muscle development and postoperative defecation in children with Perineal fistula.
Topics: Child; Child, Preschool; Humans; Male; Rectum; Defecation; Pelvic Floor; Rectal Fistula; Anorectal Malformations; Anal Canal; Urinary Fistula; Urinary Bladder Fistula; Urethral Diseases; Magnetic Resonance Imaging
PubMed: 38600320
DOI: 10.1007/s00383-024-05691-3