High-grade Vesicoureteral Reflux in Patients With Anorectal Malformation From the ARM-Net Registry: Is Our Screening Sufficient?

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.

Tethered cord in children with anorectal malformations with emphasis on rectobladder neck fistula.

PURPOSE: To find the incidence of tethered cord (TC) in patients with anorectal malformations (ARM) and to determine the relationship between bowel/urinary control and TC in a subset of patients with rectobladder neck fistula (RBNF). METHODS: The database of a tertiary medical center was retrospectively collected for all patients treated for ARM from 1980 to 2012. All patients with TC and RBNF were identified. RESULTS: Among 790 patients, who underwent screening for TC, 285(36%) were diagnosed with TC. Eleven of 37 screened patients with RBNF were diagnosed with TC. The median follow-up period was 49 months (range 2-222 months). TC was diagnosed in 3/18(16.6%) patients with sacral ratio (SR) ≥ 0.7; 4/12(33.3%) with SR 0.41-0.69; and 4/7(57.1%) patients with SR 0-0.4. The association of TC in RBNF patients had a negative influence in the prognosis for bowel and urinary control. CONCLUSION: The incidence of TC among patients with ARM is 36%. Incidence of TC among patients with RBNF correlates with SR value and is higher with lower SR. Patients with RBNF and TC have dismal prognosis for bowel control, unrelated to their SR status. Many unresolved questions related to the management of ARM patients with asymptomatic TC still remain.

Tethered cord in patients affected by anorectal malformations: a survey from the ARM-Net Consortium.

PURPOSE: The goal of this study was to determine the degree of consensus in the management of spinal cord tethering (TC) in patients with anorectal malformation (ARM) in a large cohort of European pediatric centers. METHODS: A survey was sent to pediatric surgeons (one per center) members of the ARM-Net Consortium. RESULTS: Twenty-four (86%) from ten different countries completed the survey. Overall prevalence of TC was: 21% unknown, 46% below 15, and 29% between 15 and 30%. Ninety-six agreed on screening all patients for TC regardless the type of ARM and 79% start screening at birth. Responses varied in TC definition and diagnostic tools. Fifty percent of respondents prefer ultrasound (US), 21% indicate either US or magnetic resonance (MRI) based on a pre-defined risk of presenting TC, and 21% perform both. Discrepancy exists in complementary test: 82% carry out urodynamic studies (UDS) and only 37% perform somatosensory-evoked potentials (SSEP). Prophylactic untethering is performed in only two centers (8%). CONCLUSIONS: Survey results support TC screening in all patients with ARM and conservative management of TC. There is discrepancy in the definition of TC, screening tools, and complementary test. Protocols should be developed to avoid such variability in management.

Mifepristone (RU486), a pure antiprogesterone drug, in combination with vinblastine for the treatment of progesterone receptor-positive desmoid tumor.

We report the case of a patient who developed a desmoid tumor following total proctocolectomy and J-pouch reconstruction that was unresponsive to any medical treatment. Based on estrogen receptor alpha (ERalpha) and progesterone receptor (PR) evaluation (ERalpha-negative, but PR-positive), treatment with mifepristone, a pure antiprogesterone drug, was initiated, and partial tumor regression was achieved.

Dumping syndrome following Nissen fundoplication, diagnosis, and treatment.

We evaluated the prevalence, diagnosis, and treatment of dumping syndrome (DS) following Nissen fundoplication in 50 consecutive infants and children who underwent the operation for gastroesophageal reflux. Examination included a preoperative dietary assessment with emphasis on specific postprandial clinical symptoms and technetium scintigraphy to evaluate gastric emptying. In the immediate postoperative period, postprandial glucose levels were examined in all patients with symptoms clinically suggestive of DS. In the late postoperative period (6 months to 5.5 years), all patients with more than one specific clinical symptom of DS were further evaluated by glucose tolerance test (GTT), HbA1C levels, and gastric technetium scintigraphy. DS was diagnosed in 15 patients (30%). Five patients had immediate severe DS (SDS), and 10 in the late postoperative course had latent postoperative DS (LDS). In all patients with DS, preoperative and postoperative gastric emptying scan T1/2 did not show any statistical significance. High levels of HbA1C ranging from 7.9 to 9% (mean, 8.25 +/- 0.5) were found in only three patients. Treatment included parenteral nutrition in one patient. All the others were successfully managed with nutritional manipulation alone, using a combination of lactose-free formula and fat emulsion. In patients whose postprandial symptoms persisted, pectin 5-15 g/day divided into six doses was added to the diet. Following 6 months of dietary treatment, the postprandial normoglycomic response was restored. Eleven patients experienced complete resolution of symptoms (78.5%), and three patients (21.4%) showed significant clinical improvement. This study indicates that DS is a common complication following Nissen fundoplication. The GTT is the most reliable examination for establishing the diagnosis. Treatment is simple and effective. The technetium gastric emptying scan and HbA1C level do not play a significant role in the diagnosis.

[Nissen fundoplication for gastroesophageal reflux in children].

During a 5-year period 50 children, aged 2 months to 15 years, underwent Nissen fundoplication for the management of severe gastroesophageal reflux and were then followed for from 3 months to 5 years. There were no immediate postoperative deaths. 8 patients (16%) died of serious underlying medical conditions during follow-up. The operation was successful in 86.3% in relation to indications for surgery. Postoperative complications specific for fundoplication occurred in 27 (54%) and other complications in 11 (22%). Of those with complications, 71% were treated successfully. The rest developed dumping syndrome which was diagnosed 1 month to 4 years after operation. They were treated with carbohydrate restriction and a special diet, the results of which will be evaluated later. Although Nissen fundoplication is very successful in resolving the indications for surgery, the high rate of postoperative complications demands re-evaluation of the indications for the operation in children.