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.

National survey of physicians in Swedish child health centres finds insecurity and unawareness regarding management of undescended testicles.

AIM: To investigate underlying factors for previously reported shortcomings in child health centres' (CHC) referral process of boys with undescended testicles. METHODS: A total of 386 physicians working at Swedish CHCs were surveyed regarding their knowledge about undescended testicles and their clinical management. Multivariate regression analyses were performed to identify risk factors of non-adherence to guidelines and self-reported lack of clinical skills. RESULTS: The overall knowledge of the health benefits of undescended testicle surgery was high (89%), while two-thirds were unaware of surgery being recommended <1 year of age. One-fifth of respondents had never received guidance on examination techniques. Male gender (adjusted odds ratio [aOR] 0.51, 95% confidence interval [95% CI] 0.31-0.86), education in paediatrics (aOR 0.37, 95% CI 0.18-0.76) and more experience (aOR 0.02, 95% CI 0.01-0.09) significantly decreased the risk of unfamiliarity with examinations. More experience decreased the risk of stating the incorrect indications for undescended testicle surgery (aOR 0.17, 95% CI 0.03-0.95) and finding examinations difficult (aOR 0.22, 95% CI 0.07-0.72). Medical education outside Nordic countries was a risk factor for unawareness of guidelines (aOR 2.06, 95% CI 1.21-3.51). CONCLUSION: The knowledge and confidence level of the study population varied widely. The results indicate a need for further theoretical and practical education among Swedish CHC physicians.

Mapping of referral patterns for undescended testes - Risk factors for referral of children with normal testes.

BACKGROUND: Accurate referral of boys with suspected undescended testes (UDT) is of importance to preserve fertility and reduce risk of future testicular cancer. While late referral is well studied, there is less knowledge about incorrect referrals, hence, referral of boys with normal testes. OBJECTIVE: To evaluate the proportion of UDT referrals that did not lead to surgery or follow-up, and to assess risk factors for referral of boys with normal testes. STUDY DESIGN: All UDT referrals to a tertiary center of pediatric surgery during 2019-2020 were retrospectively assessed. Only children with suspected UDT in the referral (not suspected retractile testicles) were included. Primary outcome was normal testes at examination by a pediatric urologist. Independent variables were age, season, region of residence, referring care unit, referrer's educational level, referrer's findings, and ultrasound result. Risk factors for not needing surgery/follow-up were assessed with logistic regression and presented as adjusted odds ratios with a 95% confidence interval (aOR, [95% CI]). RESULTS: A total of 378 out of 740 included boys (51.1%) had normal testes. Patients >4 years (aOR 0,53, 95% CI [0,30-0,94]), referrals from pediatric clinics (aOR 0.27, 95% CI [0.14-0.51]) or surgery clinics (aOR 0.06, 95% CI [0.01-0.38]) had lower risk of normal testes. Boys referred during spring (aOR 1.80, 95% CI [1.06-3.05]), by a non-specialist physician (aOR 1.58, 95% CI [1.01-2.48]) or referrer's description of bilateral UDT (aOR 2.34, 95% CI [1.58-3.45]), or retractile testes (aOR 6.99, 95% CI [3.61-13.55]) had higher risk of not needing surgery/follow-up. None of the referred boys that had normal testes had been re-admitted at the end of this study (October 2022). DISCUSSION: Over 50% of boys referred for UDT had normal testes. This is higher or equal to previous reports. Efforts to reduce this rate should in our setting probably be directed towards well-child centers and training in examination of testicles. The main limitation of this study is the retrospective design and the rather short follow-up time, which however should have very modest effect on the main findings. CONCLUSION: Over 50% of boys referred for UDT have normal testes. A national survey regarding the management and examination of boys testicles has been launched and directed at well-child centers to further evaluate the findings of the current study.

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.

Differential Activation of Immune Effector Processes in Mature Compared to Immature Sacrococcygeal Teratomas.

Objective: This study aims to characterize the molecular signatures of sacrococcygeal teratomas (SCTs). Methods: Three SCTs were analyzed with whole genome genotyping. RNA sequencing of 10 SCTs dominated by mature, immature and neuroglial elements was analyzed. Expression in SCT-samples with different elements were compared to each other and to a reference group of malignant pediatric tumors. Macrophages, T- and B-lymphocytes were detected by immunohistochemistry. Results: No chromosomal imbalances were detected. SCTs showed overexpression of genes involved in neurosignaling, DNA-binding molecules and pathways of early germ cells. Genes associated with immune effector processes were overexpressed in mature compared to immature SCTs, and immune cell infiltration was found predominantly around mature epithelial elements. Conclusion: The broad repertoire of histological elements in SCTs reflects differences in transcriptional regulation rather than differences in gene copy numbers. A paucity of immune response in immature SCTs may be a factor contributing to their uninhibited growth.

Sex and age differences in lower urinary tract dysfunction in healthy children.

AIM: Information about healthy children's urinary tract symptoms is scarce but would be helpful in children with congenital urinary tract conditions. The aim of this study was to develop and evaluate a Lower Urinary Tract Dysfunction (LUTD) questionnaire. METHODS: A 15-item questionnaire based on definitions by the International Children's Continence Society (ICCS) about urinary tract function, was given to children 4-15 years old with no gastrointestinal or urinary tract conditions. The study was approved ethically. RESULTS: The response rate was 82% (311/377), 50% (n = 155) were girls. Children were of the age groups 3.5-7 years (n = 136), 8-12 years (n = 127), and 13-15 years (n = 48). More girls than boys reported urinary tract infections (20% vs 3%, p < 0.001), while prevalences of incontinence and enuresis were equivalent in both sexes. In the youngest age group, enuresis was the most frequently reported symptom (11%), then daytime incontinence (10%). The older children more frequently reported previous urinary tract infections (12% and 17% in respective groups) and daytime incontinence (9% and 6%, respectively). CONCLUSION: A LUTD questionnaire is developed and evaluated within this study. Daytime urinary incontinence is the overall most common lower urinary tract symptom and girls report infections more frequently than boys.

Health-related quality of life and scar satisfaction in a cohort of children operated on for sacrococcygeal teratoma.

AIM: The aims of this study were to evaluate health-related quality of life (HRQoL) in children with sacrococcygeal teratoma and to explore the effect of the scar on physical, emotional and behavioral aspects. METHODS: A cohort of children operated on for sacrococcygeal teratoma between 2000 and 2013 at Lund University Hospital, Sweden, and their parents were interviewed. HRQoL was evaluated with PedsQL, and scar satisfaction was estimated through Patient Observer Scar Assessment Score (POSA). RESULTS: All eligible children (n = 17) were included (100% response rate). Median age was 7.3 years (range 3.5-16.0). Mean total PedsQL score was 92.3 (range 72.0 to 99.0). Patients with comorbidity scored lower (87.5) than those without (95.0) (p < 0.05). Pain during sitting down was reported by two (20%) patients, and itching was reported by another two patients (20%) aged > 8 years. No children reported that they avoided situations due to the scar, and most (80% of children and 90% of parents) reported absent or only mild negative emotions when considering the scar. CONCLUSION: Children with sacrococcygeal teratoma had a good overall HRQoL, but comorbidity reduced the outcome. A few children reported scar-related impact on physical, behavioral and emotional aspects.

Functional outcome and health-related quality of life in patients with sacrococcygeal teratoma - a Swedish multicenter study.

BACKGROUND/PURPOSE: The aims of this study were to evaluate bowel and urinary tract function, to identify predictors for dysfunctional outcome and to evaluate health-related quality-of life (QoL) in patients treated for sacrococcygeal teratomas (SCT). METHODS: Medical records of patients with SCT born between 1985 and 2015 treated at three Swedish pediatric surgical centers were reviewed. Questionnaires regarding urinary tract function, bowel function and QoL were sent to patients and parents. Different QoL instruments were used for the different age groups. RESULTS: Totally 85 patients were identified. Four patients died in the neonatal period. Forty-nine patients answered the questionnaires (60%). Median age at follow-up was 8.9 years (range 3.6-28.8). Bowel dysfunction was reported by 36% and urinary tract dysfunction by 46% of the patients. Univariate analysis revealed that urinary tract dysfunction correlated with gestational age (p = 0.018) and immature histology (p = 0.008), and bowel dysfunction correlated with gestational age (p = 0.016) and tumor size (p = 0.042). Low gestational age was an independent predictor for both urinary tract and bowel dysfunction. Good or very good QoL was reported by 56% of children aged 4-7 years, 90% of children aged 8-17 years and 67% of the adults. CONCLUSION: Although a considerable proportion of bowel and urinary tract dysfunction was found, the reported QoL was good in a majority of the patients with SCT. Low gestational age was found to be a predictor for bowel- and urinary tract dysfunction. LEVEL OF EVIDENCE: Level III.

Long-Term Outcome of Sacrococcygeal Teratoma: A Controlled Cohort Study of Urinary Tract and Bowel Dysfunction and Predictors of Poor Outcome.

OBJECTIVE: To evaluate urinary tract and bowel function in children with sacrococcygeal teratoma, compare the findings with healthy children, and assess predictors of poor outcome. STUDY DESIGN: This was a controlled cohort study of all patients operated for sacrococcygeal teratoma at a tertiary pediatric surgery center, 2000-2013. Urinary and bowel function were compared with healthy control patients matched for age and sex. Perioperative and histopathologic risk factors were analyzed. RESULTS: In total, 17 patients with sacrococcygeal teratoma and 85 healthy control patients were included in the study. Patients with sacrococcygeal teratoma more often were reported to have uncontrolled voiding (12% vs 0%, P < .01), difficulty in bladder emptying (24% vs 0%, P < .001), and pyelonephritis (18% vs 1%, P < .05). Constipation was more common in patients with sacrococcygeal teratoma (47 % vs 14%, P < .05), but the overall bowel function score was equal in the 2 groups. Children with large tumors and immature histology were more likely to have a dysfunctional outcome (P < .05). CONCLUSIONS: Uncontrolled voiding, difficulty in bladder emptying, pyelonephritis, and constipation were more common in patients with sacrococcygeal teratoma than in healthy children. Dysfunctional outcome was more prevalent in children with large and immature teratomas.

Two-trocar appendectomy in children - description of technique and comparison with conventional laparoscopic appendectomy.

BACKGROUND: The aim of the study was to describe the technique of two-trocar laparoscopic appendectomy and compare the outcome between two- and three-trocar techniques in children. METHODS: All children who underwent laparoscopic surgery for suspected appendicitis from 2006 to 2014 in a center for pediatric surgery were included in the study. Converted surgeries and patients with appendiceal abscess or concomitant intestinal obstruction were excluded. A total of 259 children underwent appendectomy with either two (35 %) or three (65 %) laparoscopic trocars according to the surgeons' preference and intraoperative judgment. Patient demographics, clinical symptoms, surgery characteristics, and complications were reviewed. RESULTS: The mean age of the children was 10.4 years (range, 1-14 years). The mean follow-up time was 41.2 months (SD ± 29.2). No significant differences in age, gender, weight, or signs and symptoms were found between the two- and three-trocar groups. The mean surgery time was significantly shorter in the two-trocar group (47 min) than in the three-trocar group (66 min; p < 0.001). The rates of surgical complications were 2 % vs. 4 %, (p = 0.501), and the rates of postoperative complications were 0 % vs. 5 % (p = 0.054), in the two- and three-trocar groups. The overall incidence of postoperative wound infection was low (<1 %) and did not differ between groups. CONCLUSIONS: Two-trocar laparoscopic appendectomy seems to be a safe and feasible technique with a low rate of postoperative wound infections. The present findings demonstrate that when the two-trocar technique could be applied, it is a good complement to the conventional three-trocar technique.

Sacrococcygeal teratoma: A population-based study of incidence and prenatal prognostic factors.

BACKGROUND: Sacrococcygeal teratoma (SCT) is a rare congenital tumor associated with high rates of perinatal mortality and morbidity. This study evaluated the incidence, prenatal detection rate, and early predictors of a complicated outcome following diagnosis of SCT. METHODS: We retrospectively identified all fetuses and newborns diagnosed with SCT in southern Sweden from 2000 to 2013. Prenatal sonograms, charts, and pathology reports were reviewed and analyzed. Each case of SCT was defined as complicated or uncomplicated based on the postnatal outcome. All cases with a fatal outcome or that required cardiac resuscitation during birth or surgery were classified as complicated. RESULTS: The overall incidence of SCT was 1:13,982 (19 children in a cohort of 265,658 live births). A prenatal diagnosis was made in 74% of cases, there were no stillbirths or intrauterine deaths, and the overall mortality rate was 11%. Four cases of SCT (21%) were classified as complicated, and these cases had a significantly larger tumor size at gestational week 20 (P=0.048), had a significantly higher tumor growth rate (P=0.003), and were more often associated with polyhydramnios (P=0.01), and mainly solid/mixed morphology (P=0.001). CONCLUSIONS: The incidence of SCT in southern Sweden was higher than those reported in most previous studies; however, the associated mortality rate was relatively low. Fetuses with large tumors, rapidly growing tumors, and polyhydramnios were more likely to experience a complicated outcome during the postnatal period.

Gastroscopy in pediatric surgery: indications, complications, outcomes, and ethical aspects.

Background. The aim of this study was to map gastroscopies performed at a single tertiary pediatric surgery centre to investigate indications, complications, outcomes, and ethical aspects. Material and Methods. A retrospective study of gastroscopies performed during two time periods (2001-2004 and 2011-2014) was conducted. Data regarding indications, outcomes, and complications of pediatric gastroscopies were analysed from a prospectively collected database. Results. The indications for gastroscopies changed over time. Therefore, 376 gastroscopies performed from 2011 through 2014 were studied separately. The median patient was four years old. The predominant indications were laparoscopic gastrostomy (40%), investigation of gastroenterological conditions (22%), obstruction in the upper gastrointestinal tract (20%), gastroesophageal reflux disease (GERD) (15%), and other indications (3%). Percentages of gastroscopies with no positive findings for each condition were laparoscopic gastrostomy, 100%; gastroenterological conditions, 46%; obstruction in the upper gastrointestinal tract, 36%; GERD, 51%. Furthermore, gastroscopies did not lead to any further action or change in treatment in 45% of gastroenterological conditions and 72% of GERD cases. The overall complication rate was 1%. Conclusion. The results are valuable to educate pediatric surgeons and to inform health care planning when including gastroscopy within clinical practice.

Pelvic floor in females with anorectal malformations--findings on perineal ultrasonography and aspects of delivery mode.

BACKGROUND: Advice on the mode of delivery to females born with anorectal malformation (ARM) is needed. The primary aim was to evaluate the anatomy of the pelvic floor muscles in females with ARM operated with posterior sagittal anorectal plasty (PSARP). The second aim was to correlate the extent of muscle defects to the bowel symptoms. METHODS: This interventional study with perineal 4D/3D ultrasonography describes the smooth muscles in the intestinal wall (neo-IAS), external sphincter, levators and anal canal using a muscle score (0-6 worst). The bowel symptoms were prospectively registered with Krickenbeck criteria score (0-7 worst). RESULTS: Forty females with different subtypes of ARM, median age 13 (4-21), were followed up regarding bowel symptoms. Seventeen were examined with ultrasonography. Bowel symptoms were similar for those examined with ultrasonography and those not, median score 5 and 3 (1-7) respectively, (p=0.223, Fisher's exact test). All the females had at least one muscular defect. There was no significant correlation between muscle defects and bowel symptoms (p=0.094, Spearman's correlation). CONCLUSION: Females with ARM have considerable defects in the pelvic floor without any significant correlation to bowel symptoms. All women with ARM would benefit from individualized predelivery evaluations and caesarian section should be considered.

A literature review of the outcomes after robot-assisted laparoscopic and conventional laparoscopic Nissen fundoplication for gastro-esophageal reflux disease in children.

BACKGROUND: Robot-assisted surgery is a promising technical innovation. Given the similarities between laparoscopic and robot-assisted surgery it is unlikely that randomized controlled trials would be conducted to disclose any differences between these two technical instruments. Thus, skepticism remains due to lack of any definitive conclusions in the literature. AIMS: The aim of the study was to disclose any difference in outcome after robot-assisted (RNF) versus conventional laparoscopic (LNF) Nissen fundoplication for gastro-esophageal reflux disease in children. MATERIALS AND METHODS: A literature review was carried out. Only studies comparing the two modalities were included. Operative time, duration of hospital stay, 30 days morbidity, mortality, conversion, recurrence and complication rates were analyzed. Review Manager 5.1.6 software, from the Cochrane library, was used for statistical analysis. RESULTS: Three case series fulfilled the criteria for inclusion in this review. Data on 174 children were identified; 89 were operated on using the computer-assisted technology and 85 controls were operated on using the conventional laparoscopic technique. Data showed no significant difference between these two modalities. DISCUSSION: This literature review demonstrates no significant difference between patients operated on with robot-assisted surgery and those undergoing conventional laparoscopic surgery regarding the parameters studied. CONCLUSION: The robot-assisted Nissen fundoplication in children is a safe alternative to conventional laparoscopic surgery. No data support the need for case selection to one of these two minimally invasive procedures.