Integrative diagnostics of the gastro-intestinal tract - gastroesophageal reflux and constipation in practice.

Common disorders of the gastrointestinal (GI) tract, such as gastroesophageal reflux/disease (GER/D) and constipation, are frequent causes for seeking medical support in infants. Diagnostic workup must ensure that diagnosed diseases are responsible for such complaints, thus enabling appropriate therapy. In this context assessment consists of clinical examination, functional tests, and imaging, which should be done in a staged manner. Close cooperation between clinicians and clinical radiologists enables optimal diagnostics, thus forming the basis for appropriate therapy.

Cardiorespiratory performance and locomotor function of patients with anorectal malformations.

The aim of this study was to assess whether adolescents following anorectal malformation repair have a decreased cardiorespiratory performance capacity and impaired motor skills. All eligible children treated for ARMs between 2000 and 2014 were invited to participate in a prospective study consisting of a clinical examination, evaluation of Bowel function and Quality of Life, spirometry, spiroergometry and assessment of the motor activity. The results were compared to a healthy age- and sex-matched control group. There was no statistically significant difference in height, weight, BMI, muscle mass or body fat percentage between the study and the control group. Nine out of 18 patients (50%) had an excellent functional outcome with a normal Bowel Function Score. Spirometry revealed no significant differences between ARM patients and controls, four patients showed a ventilation disorder. Spiroergometry revealed a significantly lower relative performance capacity and the overall rating of the motor activity test showed significantly decreased grades in ARM patients. ARM patients were affected by an impaired cardiopulmonary function and decreased motor abilities. Long-term examinations consisting of routine locomotor function evaluation and spiroergometry are advisable to detect impaired cardiopulmonary function and to prevent a progression of associated complications and related impaired quality of life.

Laparoscopic posterior rectopexy (Well's procedure) for full-thickness rectal prolapse following laparoscopic repair of an anorectal malformation: A case report.

INTRODUCTION: Intractable full-thickness rectal prolapse (IRP) unresponsive to conservative treatment remains a major problem after anorectoplasty for high or intermediate anorectal malformation (ARM). Surgical management must aim for a permanent fixation of the rectum to the presacral fascia. While in children with IRP following ARM repair the optimal procedure has not been established yet, laparoscopic posterior mesh-rectopexy (Well's procedure) has demonstrated efficacy in adults. PRESENTATION OF CASE: A male infant with intermediate ARM received laparoscopic-assisted anorectal pull-through at the age of 4 months. Three months later he developed mucosal prolapse and received multimodal conservative treatment. Because of progression into a full-thickness RP with ulcerations, the parents opted for surgical management. Well's procedure was performed at the age of 4 years. Using four ports, the rectum was circumferentially mobilized down to the pelvic floor and pulled inside. A 5 × 5 cm prolene mesh was tacked to the sacrum, enveloped posteriorly 270° around the rectum, fixed with interrupted prolene sutures on both edges and carefully covered with peritoneum. Any redundant external mucosa was excised from a perineal approach. There were no intra- and postoperative complications. Within 1.5 years of follow-up the boy had voluntary bowel movements and was toilet trained. No prolapse recurrence could be observed nor provoked. DISCUSSION: We present the first pediatric case of IRP secondary to laparoscopic ARM repair which has been successfully treated by combined Well's procedure and perineal mucosal resection. CONCLUSION: Well's procedure is a successful technique and should be further explored in children with ARM and IRP.

The Influence of Proton Pump Inhibitors on the Fecal Microbiome of Infants with Gastroesophageal Reflux-A Prospective Longitudinal Interventional Study.

Proton pump inhibitors (PPIs) are the standard therapy for gastroesophageal reflux disease. In adults, PPI treatment is associated with Clostridium difficile infections (CDI). In contrast to adults the microbiome of infants develops from sterility at birth toward an adult-like profile in the first years of life. The effect of PPIs on this developing microbiome has never been studied. The aim of the present study was to determine the effect of oral PPIs on the fecal microbiome in infants with gastroesophageal reflux disease (GERD). In this prospective longitudinal study 12 infants with proven GERD received oral PPIs for a mean period of 18 weeks (range 8-44). Stool samples were collected before ("before PPI") and 4 weeks after initiation of PPI therapy ("on PPI"). A third sample was obtained 4 weeks after PPI discontinuation ("after PPI"). The fecal microbiome was determined by NGS based 16S rDNA sequencing. This trial was registered with clinicaltrials.gov (NCT02359604). In a comparison of "before PPI" and "on PPI" neither α- nor ß-diversity changed significantly. On the genus level, however, the relative abundances showed a decrease of Lactobacillus and Stenotrophomonas and an increase of Haemophilus. After PPI therapy there was a significant increase of α- and ß-diversity. Additionally, the relative abundances of the phyla Firmicutes, Bacteroidetes, and Proteobacteria were significantly changed and correlated to patients' age and the introduction of solid foods. PPI treatment has only minor effects on the fecal microbiome. After discontinuation of PPI treatment the fecal microbiome correlated to patients' age and nutrition.

Postoperative Complications and Functional Outcome after Esophageal Atresia Repair: Results from Longitudinal Single-Center Follow-Up.

BACKGROUND: Esophageal atresia (EA) and tracheoesophageal fistula (TEF) represent major therapeutic challenges, frequently associated with serious morbidities following surgical repair. The aim of this longitudinal study was to assess temporal changes in morbidity and mortality of patients with EA/TEF treated in a tertiary-level center, focusing on postoperative complications and their impact on long-term gastroesophageal function. METHODS: One hundred nine consecutive patients with EA/TEF born between 1975 and 2011 were followed for a median of 9.6 years (range, 3-27 years). Comparative statistics were used to evaluate temporal changes between an early (1975-1989) and late (1990-2011) study period. RESULTS: Gross types of EA were A (n = 6), B (n = 5), C (n = 89), D (n = 7), and E (n = 2). Seventy (64.2%) patients had coexisting anomalies, 13 (11.9%) of whom died before EA correction was completed. In the remaining 96 infants, surgical repair was primary (n = 66) or delayed (n = 25) anastomosis, closure of TEF in EA type E (n = 2), and esophageal replacement with colon interposition (n=2) or gastric transposition (n=1). Long-gap EA was diagnosed in 23 (24.0%) cases. Postoperative mortality was 4/96 (4.2%). Overall survival increased significantly between the two study periods (42/55 vs. 50/54; P = 0.03). Sixty-nine (71.9%) patients presented postoperatively with anastomotic strictures requiring a median of 3 (range, 1-15) dilatations. Revisional surgery was required for anastomotic leakage (n = 5), recurrent TEF with (n = 1) or without (n=9) anastomotic stricture, undetected proximal TEF (n = 4), and refractory anastomotic strictures with (n = 1) or without (n = 2) fistula. Normal dietary intake was achieved in 89 (96.7%) patients, while 3 (3.3%) remained dependent on gastrostomy feedings. Manometry showed esophageal dysmotility in 78 (84.8%) infants at 1 year of age, increasing to 100% at 10-year follow-up. Fifty-six (60.9%) patients suffered from dysphagia with need for endoscopic foreign body removal in 12 (13.0%) cases. Anti-reflux medication was required in 43 (46.7%) children and 30 (32.6%) underwent fundoplication. The rate of gastroesophageal reflux increased significantly between the two study periods (29/42 vs. 44/50; P = 0.04). Twenty-two (23.9%) cases of endoscopic esophagitis and one Barrett's esophagus were identified. CONCLUSIONS: Postoperative complications after EA/TEF repair are common and should be expertly managed to reduce the risk of long-term morbidity. Regular multidisciplinary surveillance with transitional care into adulthood is recommended in all patients with EA/TEF.

Long-term results of total colonic agangliosis patients treated by preservation of the aganglionic right hemicolon and the ileo-cecal valve.

PURPOSE: In 1989, Sauer introduced a technique to treat patients with total colonic aganglionosis (TCA) where he preserved the ileo-cecal valve and the right hemicolon to retain water and electrolyte absorption. This report examines the long-term outcome of patients who underwent this technique. METHODS: All TCA patients treated between 1981 and 2005 according to Sauer were invited in 2013 to participate in a questionnaire survey to assess their long-term outcome focusing on bowel function and quality of life (QoL), using standardized scores. RESULTS: Of eight TCA patients (2 females, 6 males), seven participated in the follow-up survey (median follow-up time 13.5 years (range 8-31.6). Early postoperative complications involving bouts of enterocolitis in 3 and anal strictures in 5 patients ceased with age. Bowel movements ranged from median 3-4 times a day (range 1-8). Bowel-function score (BFS) was reduced in 6 patients (median 16 points, range 8-19, max 20), who also reported soiling incidences with the need for night-time protective aids in two. QoL assessment, however, documented a good outcome with a median score of 10 points (range 7-13, max 13). CONCLUSION: This long-term investigation of TCA patients treated according to Sauer's technique documented a good QoL despite a reduced BFS.

Proton pump inhibitors for reflux therapy in infants: effectiveness determined by impedance pH monitoring.

PURPOSE: To evaluate the influence of proton pump inhibitors (PPI) in predominantly milk-fed infants with symptoms of GERD by 24-h pH-multichannel intraluminal impedance (24-h pH-MII). METHODS: Ten infants (8 males and 2 females) with a mean gestational age of 39 weeks (28-40) were included. 24-h pH-MII was performed before prescription and during intake of PPI. Total acid exposure time, bolus exposure time (acidic/non-acidic/total) and the number of refluxes (acidic/non-acidic/total) were determined. Clinical symptoms were recorded and used to calculate the Reflux Symptom Index (RSI) and the Symptom Severity Index (SSI). RESULTS: There was a significant decrease in the number of acidic refluxes, total acid exposure and acidic bolus exposure time. However, this went along with a significant increase in non-acidic bolus exposure time. The total number of refluxes and the total bolus exposure time remained unchanged. Under PPI, a decrease of SSI and RSI for pain-related symptoms could be observed. For respiratory symptoms and vomiting however no significant changes could be demonstrated. CONCLUSIONS: Under PPI, an improvement of pain-related symptoms could be shown. The decrease of acid exposure went along with an increase of non-acidic refluxes resulting in almost constant total reflux numbers. This finding is interpreted as main reason for some persisting symptoms despite adequate PPI dosage. Concluding from our data PPI therapy should only be indicated in case of pain, but has no effect in case of vomiting or recurrent respiratory symptoms.

Pre- and postoperative rectal manometric assessment of patients with anorectal malformations: should we preserve the fistula?

BACKGROUND: Surgical correction of congenital anorectal malformations could be complicated by fecal incontinence. Some authors believe that preservation of the fistula is associated with improved outcome. Rectal manometry is a well-established method to evaluate postoperative functional outcome in these patients and can demonstrate successful transplantation of the fistula. OBJECTIVE: Herein, we report the results of our series of patients with anorectal malformations and an externally accessible fistula, who underwent pre- and postoperative rectal manometry studies. DESIGN: This is a prospective cohort study. SETTINGS: This study was conducted at a tertiary neonatal and pediatric surgical center. PATIENTS: Patients with anorectal malformations, who underwent preoperative rectal manometry of the fistula and postoperative rectal manometry of the neoanus between January 2002 and December 2011 were included. MAIN OUTCOME MEASURES: Pre- and postoperative rectal manometry results were compared by using paired t test or contingency tables (p values <0.05). RESULTS: Twelve female patients with rectoperineal (n = 7, 58%) or rectovestibular (n = 5, 42%) fistula were treated by anterior sagittal anorectoplasty or minimal posterior sagittal anorectoplasty. Complete transposition of the fistula was achieved in all patients. Normal presence of rectoanal inhibitory reflex was demonstrated in all pre- and postoperative rectal manometry studies. There were no differences between pre- and postoperative rectal manometry in the length of the high-pressure zone (2.3 ± 0.6 cm vs 2.5 ± 0.8 cm (p = 0.5)) and resting pressure (59.4 ± 18.2 mm Hg vs 62.1 ± 19.2 mm Hg (p = 0.62)). At a median follow-up of 665 days (range, 290-1165 days), all patients have voluntary bowel movements, with no incontinence or soiling. LIMITATIONS: This study is limited by its small sample size and by single-institution bias. CONCLUSION: Preoperative rectal manometry of rectoperineal or rectovestibular fistula showed the presence of functional anal structures within the fistula in all patients. We speculate that fistula-preserving surgery in patients with anorectal malformations is associated with improved bowel function outcome.

Gastroesophageal reflux and behavior in neurologically impaired children.

OBJECTIVE: This study aimed to evaluate a possible link between gastroesophageal reflux (GER) and behavior pattern indicating pain experience in a group of children with severe neurologic deficits. PATIENTS AND METHODS: We prospectively evaluated 19 patients with severe neurologic impairment (10 males and 9 females; mean age, 12.7 years) suspected for GER before and after initial treatment. Repeated 24-hour pH monitorings were performed in 19 children, whereas additional repeated endoscopic investigations were carried out in 18. In these children a histologic examination of mucosal biopsies was performed. Behavior pattern was described by parents or caregivers. The level of activity was classified as no/occasional agitation, daily agitation, and autoaggressive behavior. RESULTS: The behavioral pattern of the children was most frequently (n = 24) described as "agitated" followed by "autoaggressive" behavior (n = 10). Neither autoaggression nor agitation was less frequent (n = 4). Children with autoaggressive behavior had a significantly higher reflux index compared with the neurologically impaired patients with agitation only (P < .01). The reflux index was significantly higher in children with behavioral abnormalities than in children without abnormalities (P < .0004). In children without agitation or autoaggression, the pH measurements were all normal. Biopsies of esophageal mucosa revealed inflammation in 27 cases (first degree in 9; second degree in 12, and third degree in 6). Patients with autoaggressive behavior and those with agitation only had a significantly higher degree of inflammation compared with children without behavioral abnormalities (1.77 and 1.35 vs 0.25, respectively; P < .05). The degree of inflammation did not differ significantly among children with behavioral abnormalities. DISCUSSION: The present study suggests that in children with severe neurologic impairment, autoaggressive behavior or considerable agitation may be a marker for reoccurring or first-time-diagnosed pathologic GER. The severity of reflux correlates significantly to the behavior pattern resulting from experiencing pain. Pathologic GER should be excluded in all neurologically impaired children with behavioral abnormalities to prevent reflux-related complications and improve health-related quality of life.