Evaluation of Anal Sphincter with High Resolution Anorectal Manometry and 3D Reconstruction in Patients with Anorectal Malformation.

BACKGROUND: Patients with anorectal malformation (ARM) need long-term follow-up, in order to evaluate fecal continence; the main predictors of longer-term success are the type of ARM, associated anomalies and sacral integrity. Three-Dimensional High Resolution Anorectal Manometry (3D-HRAM) gives detailed information on pressure on the anal complex profile. Our objective was to analyze anal sphincter activity in ARM patients with 3D-HRAM establishing the correlation between manometric and clinical data. METHODS: Forty ARM patients were submitted to 3D-HRAM: manometric, anatomical and clinical scores were correlated with each other and with the bowel management response (BM). RESULTS: A positive correlation between all scores and types of ARM was found: in high ARM and in patients with spinal anomalies (regardless to ARM type) lower scores were reported and even after BM they did not achieve good continence. CONCLUSIONS: 3D-HRAM gives detailed data on the functional activity of the anal sphincter complex. Our study revealed a correlation between manometric parameters and clinical outcomes, confirming spinal malformations and ARM type as the most important prognostic risk factors for a bad outcome. Specific sphincteric defects can also be explored with manometry, allowing for tailored bowel management strategies.

Evaluation of Dysphagia and Inhalation Risk in Neurologically Impaired Children Using Esophageal High-Resolution Manometry with Swallowing Analysis.

BACKGROUND: Dysphagia in neurologically impaired children is associated with feeding difficulties, malnutrition and aspiration pneumonia. Esophageal high-resolution manometry (HRM) has been used in the diagnosis of motility disorders affecting the swallowing process. The aim of this study was to analyze swallowing functions in NI children by using HRM in order to establish swallow parameters identifying inhalation risk. METHODS: Twenty-five NI children with cerebral palsy were submitted to esophageal HRM with UES analysis, comparing the results with non-NI children. The following parameters were evaluated: maximum pressure and duration of contraction of the velopharynx (VP) and tongue base (TB), and maximal, minimal, resting pressure and relaxation duration of the upper esophageal sphincter (UES). RESULTS: pVP max, pTB max, pUES max and resting pressure were lower, while p UES minimal was higher and relaxation duration was shorter in NI children vs. the control group. Predictive values of inhalation risk were evaluated. CONCLUSIONS: This study evaluates inhalation risk in NI children using HRM to study UES function. Our results confirm the alterations described in NI children: insufficient contraction and clearing force for bolus transmission through the pharynx and incomplete UES relaxation can predispose to pharyngeal residues and inhalation independently of swallowing because of lower values of UES resting.

Advanced Management Protocol of Transanal Irrigation in Order to Improve the Outcome of Pediatric Patients with Fecal Incontinence.

BACKGROUND: Transanal irrigation (TAI) is employed for children with fecal incontinence, but it can present several problems which require a study of their outcomes among different pathologies and without a tailored work up. The aim of our study was to evaluate the effectiveness of an advanced protocol in order to tailor TAI, prevent complications, and evaluate outcomes. METHODS: We included 70 patients (14 anorectal malformation, 12 Hirschsprung's disease, 24 neurological impairment, 20 functional incontinence) submitted to a comprehensive protocol with Peristeen®: fecal score, volumetric enema, rectal ultrasound, anorectal 3D manometry, and diary for testing and parameter adjustment. RESULTS: Among the patients, 62.9% needed adaptations to the parameters, mainly volume of irrigated water and number of puffs of balloon. These adaptations were positively correlated with pre-treatment manometric and enema data. In each group, the improvement of score was statistically significant in all cases (p 0.000); the main factor influencing the efficacy was the rate of sphincter anomalies. The ARM group had slower improvement than other groups, whereas functional patients had the best response. CONCLUSIONS: Our results showed that TAI should not be standardized for all patients, because each one has different peculiarities; evaluation of patients before TAI with rectal ultrasound, enema, and manometry allowed us to tailor the treatment, highlighting different outcomes among various pathologies, thus improving the efficacy.

High Resolution Manometry Guidance During Laparoscopic Fundoplication in Pediatric Surgically "Fragile" Patients: Preliminary Report.

BACKGROUND: High resolution manometry (HRM), has been recently introduced in clinical practice to detect esophageal intraluminal pressure and esophageal motor function. We evaluated the feasibility and usefulness of intraoperative esophageal HRM during antireflux laparoscopic procedures in pediatric cases with neurological impairment (NI) or esophageal atresia (EA). METHODS: From January to November 2019, seven children (5 NI, 2 EA) with gastroesophageal reflux (GER) were enrolled. Data on intraoperative pressure changes of the esophagogastric junction (EGJ) and postoperative follow-up data were collected. RESULTS: Average preoperative LES pressures were not significantly different from postoperative pressures. A sliding hernia was detected in all patients as evidenced by EGJ double peak pressures. Hernia correction after esophageal traction was complete in 71.4% of the patients, and residual hernia (<2 cm) was detected in 28.6%. Postoperative EGJ pressures were higher compared to preoperative sphincteric pressures (p < 0.001); in NI patients, higher postoperative values were noted compared to EA (p = 0.05). No sliding hernia and/or GER relapses were recorded. Two patients reported dysphagia postoperatively. CONCLUSIONS: Intraoperative HRM may optimize esophageal pressure changes during laparoscopic fundoplication. Further studies are needed to confirm the usefulness of a tailored surgical approach to reduce postoperative complications.

Diabetes Type 2 in Neurologically Impaired Children and Adolescents Without Obesity: A New Emerging Entity?

Background: Insulin resistance (IR) plays a key role in the pathogenesis of type 2 diabetes (T2D). In neurologically impaired (NI) children unfavorable cardio-metabolic risk profile with high prevalence of IR has been reported. We evaluated the prevalence of T2D in NI children and adolescents, in order to define if a dedicated glucose monitoring may be recommended in these subjects. Methods: We retrospectively evaluated 63 patients (11.4 ± 4.0 years) with severe disabilities. Auxological parameters were recorded. Metabolic blood assays included fasting blood glucose (FBG), fasting insulin, triglycerides (TG). IR was detected with the homeostasis model assessment for insulin resistance (HOMA-IR > 97.5th percentile for age and sex) and triglyceride-glucose index (TyG index > 7.88). Elevated FBG was defined with values >100 mg/dl. T2D was defined according to American Diabetes Association criteria. Results: Impaired insulin sensitivity, pathological TyG index and elevated FBG were observed, respectively, in 41.3, 63.5, and 11.1% patients. T2D was diagnosed in 3.2% asymptomatic patients. The prevalence of diabetes was higher in pre-pubertal compared to pubertal subjects (p = 0.03). Conclusions: T2D in NI children and adolescents without obesity could represent a new emerging entity. IR and/or surrogate markers of IR index may be useful for the primary screening of this at-risk disabled population so as to prevent diabetes.

Genetic Basis of Posterior Urethral Valves Inheritance.

OBJECTIVE: To highlight genetic pattern of posterior urethral valves (PUVs), we performed a genetic study on 2 siblings affected. PUVs are the most common congenital cause of lower urinary tract obstruction and an important cause of renal failure in infants (50% progress to end-stage renal disease in 10 years). PUVs occur in 1 of 5000-8000 male infants, but real incidence is arduous to determine because of the wide spectrum of possible clinical presentation. A different recurrence rate is reported in African Americans and children with Down syndrome, although usually PUVs are not found in syndromic conditions but constitute an isolated disorder. Although most cases appear to be sporadic, some reports in literature suggest a partial genetic etiology. MATERIALS AND METHODS: We report 2 brothers with PUVs. The children's mother was a healthy woman but had a history of urinary tract infections of unknown etiology. We investigated possible familial genetic anomalies using a DNA array comparative genomic hybridization technique. RESULTS: We identified 2 partial duplications in the short arm of chromosome 11 recurring in both children and mother. CONCLUSION: This finding, not previously reported to our knowledge, adds new data to support the hypothesis of the presence of a hereditary component in the occurrences of PUVs.

Is rectal disimpact always necessary in children with chronic constipation? Evaluation with pelvic ultrasound.

PURPOSE: The aim of study was to evaluate if pelvic ultrasound can be useful in managing children with chronic idiopathic constipation. METHODS: A total of 270 children with idiopathic chronic constipation were enrolled in the study. At baseline and at monthly checkups children were evaluated by clinical score and pelvic ultrasound (US). Patients have been divided in 2 groups, based on pelvic US results: group A with a rectal diameter >3 cm, group B with a rectal diameter <3 cm or rectum not visualized. Both groups were subsequently randomly divided in two subgroups (A1, A2, B1, B2) on the basis of the prescribed treatment (disimpaction for the first week and daily laxative or only daily laxative). RESULTS: After 1 month of therapy all clinical features improved in group A1 and at pelvic US, rectal size reduced and became not visualized; group A2 showed poor clinical response and transverse diameter of rectum did not modify significantly; B1 and B2 groups showed significant improvement only after 2-3 months. CONCLUSIONS: Rectal disimpaction is necessary only in presence of MR. Pelvic US is a useful to diagnose MR and to set up the most appropriate treatment protocol for different chronic constipation cases.