Genital Malformations in Children With VACTERL - Has Time Come to Include "G" in the Acronym?

BACKGROUND: Genital malformations are frequently diagnosed in patients with VACTERL, but are currently not included in the acronym. This study aimed to analyze the frequency of genital anomalies in patients with esophageal atresia (EA) and/or anorectal malformation (ARM), with a subgroup analysis of children fulfilling the VACTERL criteria. METHOD: This was a cross-sectional retrospective analysis of two prospectively collected registries of patients operated on for ARM and EA between 2012 and 2022 at a specialized national center. Children were screened routinely for malformations according to the VACTERL acronym. RESULTS: A total of 174 children were included in the study. VACTERL was diagnosed in 60 children (34%), while 114 children (66%) were defined as non-VACTERL. Genital malformations were diagnosed in 38% (23/60) of the children with VACTERL, and in 11% (13/114) of the children without VACTERL (p < 0.001). The presence of genital malformations correlated linearly with the number of diagnosed component features (CFs). In boys with VACTERL, the most common genital malformation was undescended testes present in 10/27 (21%) compared to 1/71 (1%) in non-VACTERL boys (p < 0.001). Müllerian duct anomalies were found in 26% of girls with VACTERL vs. 7% in non-VACTERL girls (p < 0.05). CONCLUSION: There was a higher frequency of genital malformations in patients with VACTERL emphasizing the importance of genital assessment for these patients. We propose VACTERL-G as an extension of the current acronym aiming to reduce the risk of long-term morbidity due to delayed diagnosis of reproductive anomalies.

Systematic orientation of fresh rectal suction biopsies improves histopathological diagnostics in hirschsprung's disease - a method description and preliminary report.

BACKGROUND: Optimizing rectal suction biopsy (RSB) diagnostics in Hirschsprung's disease (HD) may shorten diagnostic time and prevent need for repeated biopsies. AIM: To explore whether systematic orientation of fresh RSB specimens increased biopsy quality, diagnostic times, diagnostic efficacy, and histopathologic workload, and to explore these outcome measures for aganglionic specimens. MATERIALS/METHODS: This was an observational case-control study conducted at a national referral center for HD on data collected from the local HD-diagnostic register. From 2019 each fresh RSB was oriented by the collector in a notch in a foam cushion, placed in a separate cassette, and sent in formalin for pathological analysis. Outcome measures of oriented RSB samples collected 2019-2021 were compared to those of non-oriented RSB samples collected 2015-2018. Staining/immunohistochemistry consisted of hematoxylin eosin, S-100 and calretinin. RESULTS: 78 children with 81 RSBs and 242 biopsy analyzes were included. The frequency of high-quality RSB specimens was higher in oriented: 40% (42/106) versus non-oriented 25% (34/136) (p = 0.018), the diagnostic turnaround time was shorter: 2 days (1-5) versus 3 days (2-8) (p = 0.015), and the number of additional sectioning/leveling/re-orientation per biopsy was lower: 7 (3-26) versus 16 (7-72) (p = 0.011). Specifically for aganglionic specimens, the frequency of high-quality biopsies was generally higher in oriented than in non-oriented RSB specimens: 47% (28/59) versus 14% (7/50) (p < 0.001); the diagnostic efficacy was higher 95% (19/20) versus 60% (9/15) (p = 0.027) and the diagnostic turnaround time shorter: 2 days (2-3) versus 3 days (2-8) (p = 0.036). CONCLUSIONS: Systematic orientation of fresh RSB specimens improves HD diagnostics. Improvement was consistent in aganglionic specimens.

Diagnostic Efficacy of Rectal Suction Biopsy with Regard to Weight in Children Investigated for Hirschsprung's Disease.

BACKGROUND/AIM: Diagnostic efficacy, defined as the percentage of rectal suction biopsy (RSB) specimens sufficient enough to determine the absence of ganglia cells in Hirschsprung's disease (HD) diagnosis, has been reported to be low, requiring repeated biopsies. The aim was to explore whether RSB diagnostic efficacy was influenced by the child's weight and to ascertain whether RSB efficacy differed between aganglionic and ganglionic tissue. MATERIALS AND METHODS: Efficacy analyses were conducted in a national HD-center's register on children 0-15 kg, examined between 2011-2019. First-time RSB diagnostic efficacy was correlated to the children's weight and final HD diagnosis. RESULTS: Among the 84 children who had first-time RSB, the overall diagnostic efficacy was 85% (71/84). The efficacy was higher among children weighing less than the identified cut-off of 9.0 kg (89% in 0-9.0 kg versus 62% in 9.01-15.0 kg, p = 0.026). Among children diagnosed with HD, 96% (26/27) weighed 0-9.0 kg. In this weight group, the diagnostic efficacy was lower in aganglionosis compared to ganglionosis (77%; 20/26 versus 96%; 43/45), p = 0.045). CONCLUSIONS: The RSB diagnostic efficacy was significantly higher in children weighing less than 9.0 kg and was less in aganglionic compared to ganglionic tissue. Therefore, weight can be useful to predict RSB diagnostic efficacy.

Patient-reported physical and psychosocial significance of abdominal scarring in anorectal malformations.

Background Abdominal scarring in patients with anorectal malformations (ARM) is a permanent visible sign of a chronic congenital condition. The study's aims were to assess the physical and psychosocial significance of abdominal scarring in ARM and to propose a scar treatment approach. Methods A patient- and observer reported cross-sectional study of ARM patients with previous colostomies surgically treated 1997-2015 with minimum 4 years' follow-up after stoma closure. A maximum of 3 patient-selected scars per patient were evaluated by a) the Patient and Observer Scar Assessment Scale (POSAS; 11= no symptoms, 110=worst symptoms), b) pictorial scar treatment assessment by a plastic surgeon, c) questionnaire evaluation of the scarring's psychosocial aspects, bowel- and urinary function and quality of life. Descriptive statistics were presented in median (range) and percent (%), and Pearson's r was used to evaluate linear correlations. Ethical approval and written consents were obtained. Results Twenty-seven patients (48% females) aged 12 (5-24) years old were included. Two (1-3) scars were evaluated per patient with a median POSAS score of 44 (15-78). Six patients (22%) reported scar pain, five (19%) scar pruritus and nine (33%) affected behavior, e.g. always wearing full-covered clothing in public places. Higher (worse) POSAS score and increasing age correlated (r = 0.40, p = 0.04). According to the plastic surgeon's assessment, 21 patients (78%) were suitable candidates for surgical scar treatment, among whom eight patients (30%) requested scar treatment. Conclusions Postoperative abdominal scarring should require attention in clinical ARM follow-up programs including potential corrective plastic surgery for selected patients.

Accuracy of pre-operative fistula diagnostics in anorectal malformations.

BACKGROUND: Surgical safety during posterior sagittal anorectal plasty (PSARP) for anorectal malformations (ARM) depends on accurate pre-operative fistula localization. This study aimed to evaluate accuracy of pre-operative fistula diagnostics. METHODS: Ethical approval was obtained. Diagnostic accuracy of pre-PSARP symptoms (stool in urine, urine in passive ostomy, urinary tract infection) and examination modalities (voiding cystourethrogram (VCUG), high-pressure colostogram, cystoscopy and ostomy endoscopy) were compared to final intra-operative ARM-type classification in all male neonates born with ARM without a perineal fistula treated at a tertiary pediatric surgery center during 2001-2020. RESULTS: The 38 included neonates underwent reconstruction surgery through PSARP with diverted ostomy. Thirty-one (82%) had a recto-urinary tract fistula and seven (18%) no fistula. Ostomy endoscopy yielded the highest diagnostic accuracy for fistula presence (22 correctly classified/24 examined cases; 92%), and pre-operative symptoms the lowest (21/38; 55%). For pre-operative fistula level determination, cystoscopy yielded the highest diagnostic accuracy (14/20; 70%), followed by colostogram (23/35; 66%), and VCUG (21/36; 58%). No modality proved to be statistically superior to any other. CONCLUSIONS: Ostomy endoscopy has the highest diagnostic accuracy for fistula presence, and cystoscopy and high-pressure colostogram for fistula level determination. Correct pre-operative ARM-typing reached a maximum of 60-70%.

Diet plays a central role in parental self-treatment of children with Hirschsprung's disease-a qualitative study.

AIM: Hirschsprung's disease is a congenital disorder requiring surgery. Most children operated on for Hirschsprung's disease experience postoperative bowel dysmotility. Although various food is known to influence bowel motility, evidence of diet's role and dietary guidelines in treatment of bowel dysfunction in Hirschsprung's disease is lacking. The aim was to explore parental experiences of dietary effects on bowel function in children with Hirschsprung's disease. METHODS: A qualitative study including three focus groups with ten parents of children with Hirschsprung's disease at a national Hirschsprung's disease centre. Data were analysed through content analysis. RESULTS: Parents emphasised diet as a strong influencer on their child's bowel function in Hirschsprung's disease. They expressed great concerns about their responsibility and strived hard to explore and adjust dietary habits to control the child's bowel function. Families' daily and social lives were influenced by the child's diet and bowel function. The parents desired dietary support and guidelines to improve their confidence in self-treatment of Hirschsprung's disease. CONCLUSION: Dietary habits play a key role in parental self-treatment of bowel function in their children with Hirschsprung's disease. Dietary guidelines for patients with Hirschsprung's disease are anticipated.

Reaching adulthood with Hirschsprung's disease: Patient experiences and recommendations for transitional care.

BACKGROUND/PURPOSE: The need for transitional care has gained increased focus in the treatment of patients with congenital colorectal disorders. We aimed to acquire in-depth knowledge about the experiences of adult patients with Hirschsprung's disease (HD) and their suggestions for transitional care. METHODS: Binational study applying gender equal focus group interviews (FGI). RESULTS: Seventeen (9 men) of 52 invited patients with median age 29 (19-43) years participated. Three themes evolved from the FGI. "Scarred body and soul" describes the somatic and psychosocial challenges the patients experienced and "limited health literacy on HD" refers to the patients' lack of HD knowledge. "Absent transition" depicts missing transitional care and the patients' inability to find adult HD specialists. The adult HD patients strongly recommended transitional care from early teens with focus on information about HD and establishment of a peer-to-peer program. They also emphasized the possibility of being referred to a pelvic floor center. CONCLUSIONS: HD negatively influences patients' somatic and psychosocial health in childhood, adolescence and adulthood. Adult HD patients strongly recommend transitional care from early teens and the possibility for referral to a center working with pelvic floor dysfunctions. LEVEL OF EVIDENCE: IV TYPE OF RESEARCH: Clinical.

[Diagnosis and treatment of phimosis delegated to trained assistant nurses]. / Diagnostik och behandling av fimos hos pojkar kan delegeras.

Phimosis in boys is a common condition. In the majority of cases it is physiological without symptoms. Symptomatic phimosis can often be treated successfully with local steroid cream - only a minority of patients need surgery.  This study concludes that diagnosis, information to patients and guardians, initiation and follow-up of local steroid treatment can successfully, and safely, be delegated to trained assistant nurses.

Key components of successful transition for adolescents born with anorectal malformations-a Nordic focus group study.

OBJECTIVES: Transitional care for adolescents with congenital malformations, such as anorectal malformations (ARM), is described sparsely in the literature and referred to as being inadequate. In order to organize future successful healthcare structures, knowledge of patient-reported important aspects of transition is required. The aim of the study was therefore to explore the needs and expectations of transitional- and adult healthcare among adolescents and adults born with ARM. METHODS: Two tertiary paediatric surgical centres, in collaboration with two tertiary pelvic floor centres, in Sweden and Norway, conducted a qualitative study, involving adolescents and adults born with ARM in focus group discussions regarding transitional care. Discussions were analyzed by qualitative content analysis. Ethical approval was obtained. RESULTS: Sixteen participants (10 women) with a median age of 24 (19-47) years, born with mixed subtypes of ARM were included in gender-divided focus groups. Participants emphasized a need for improved knowledge of ARM, both among patients and adult care providers. Participants identified a need for support with coping strategies regarding challenging social- and intimate situations due to impaired bowel function. Participants pin-pointed well-functioning communication between the patient and the paediatric- and adult care providers as a key factor for a successful transitional process. Further, participants emphasized the importance of easy access to specialized adult healthcare when needed, suggested to be facilitated by appointed patient navigators. CONCLUSION: Adolescents and adults born with ARM identify improved knowledge of ARM, well-functioning communication and easy access to specialized adult care as key components of a successful transition.

Wound Dehiscence after Posterior Sagittal Anorectoplasty in Children with Anorectal Malformations.

AIM OF THE STUDY: To assess the frequency of and identify contributing factors to wound dehiscence after posterior sagittal anorectoplasty (PSARP) in children born with anorectal malformations (ARM). METHODS: Ethical approval was obtained (DNR 2017/191). Charts of all children with anorectal malformations (ARM) reconstructed with PSARP, limited PSARP, or PSARVUP at a tertiary centre of paediatric surgery between 2001 and 2016 were reviewed. Wound dehiscence within 30 days postoperatively was analysed regarding gender, prematurity, birth weight, type of ARM, other congenital malformations, single- or multistaged reconstruction, age and weight at reconstruction, postoperative antibiotics, and fasting. Multiple regression analysis was performed for risk factors in single-stage PSARP or limited PSARP, presented as odds ratio (OR) with 95% confidence interval (CI). MAIN RESULTS: Ninety patients were included, of which 53 (59%) were males. Single-staged PSARP was performed in 40 (44%) patients and 50 (56%) had a multistaged reconstruction with a colostomy. Wound dehiscence was significantly more common among patients without a colostomy; 17 (43%) vs. 11 (22%) (p=0.043). In patients with single-stage PSARP, no single factor was identified to increase the risk for wound dehiscence: cardiac malformations (OR 3.73) (95% CI 0.78-17.88), low weight at surgery (OR 1.56) (95% CI 0.36-6.99), antibiotics < 1 day (OR 1.6) (95% CI 0.43-5.94), or short fasting 0-3 days (OR 4.44) (95% CI 0.47-42.18). CONCLUSIONS: A divided colostomy protected against wound dehiscence after PSARP. No risk factor for wound dehiscence after single-staged PSARP was identified. Further studies are needed to establish contributing factors to uncomplicated wound healing after PSARP.