Congenital sodium diarrhoea caused by rare de novo activating guanylate cyclase mutation.

A male infant with prenatal history significant for polyhydramnios requiring multiple amnioreductions with suspicion of small bowel atresia was born at 31 weeks 5 days' gestation with abdominal distension. He underwent three exploratory laparotomies and ileostomy for small bowel obstruction and was found to have fluid-filled intestinal dilatation. Serum and stool chemistries suggested sodium secretory diarrhoea. A rapid whole-exome sequencing confirmed de novo guanylate cyclase mutation variant as a cause for his congenital sodium secretory diarrhoea. He required large volume of fluid and electrolyte replacement along with total parenteral nutrition. Several medications to restore normal sodium homeostasis by targeting molecular mechanisms and pathogenesis described in previous literature failed to decrease stool output and electrolyte loss. He was discharged home at 11 months of age on total parenteral nutrition and weekly iron therapy.

Center-Based Experiences Implementing Strategies to Reduce Risk of Horizontal Transmission of SARS-Cov-2: Potential for Compromise of Neonatal Microbiome Assemblage.

Perinatal transmission of COVID-19 is poorly understood and many neonatal intensive care units' (NICU) policies minimize mother-infant contact to prevent transmission. We present our unit's approach and ways it may impact neonatal microbiome acquisition. We attended COVID-19 positive mothers' deliveries from March-August 2020. Delayed cord clamping and skin-to-skin were avoided and infants were admitted to the NICU. No parents' visits were allowed and discharge was arranged with COVID-19 negative family members. Maternal breast milk was restricted in the NICU. All twenty-one infants tested negative at 24 and 48 hours and had average hospital stays of nine days. 40% of mothers expressed breastmilk and 60% of infants were discharged with COVID-19 negative caregivers. Extended hospital stays, no skin-to-skin contact, limited maternal milk use, and discharge to caregivers outside primary residences, potentially affect the neonatal microbiome. Future studies are warranted to explore how ours and other centers' similar policies influence this outcome.

Detailed Histologic Evaluation of Eosinophilic Esophagitis in Pediatric Patients Presenting with Dysphagia or Abdominal Pain and Comparison of the Histology between the Two Groups.

EoE in children presents with four main symptoms. Most common symptoms exhibited by our clinic population are dysphagia (D) and abdominal pain (AP). Despite similar treatments, we found in an earlier study that the outcomes between these two groups were different. Therefore, we investigated if there exist any histological differences between these groups that could further our knowledge of EoE. Aim. To compare esophageal histology in detail, apart from the eosinophil count, between EoE-D and EoE-AP. Method. Biopsies of patients with EoE-D and EoE-AP were reevaluated for 10 additional histological criteria, in addition to the eosinophil count. Results. Both groups had 67 patients; peak mean eosinophil was 33.9 and 31.55 for EoE-D and EoE-AP (p < 0.05). Eosinophilic microabscesses, superficial layering of eosinophils, and epithelial desquamation were twice as common and significant in EoE-D group than EoE-AP. Eosinophil distribution around rete pegs was also significantly higher in EoE-D group. The remaining criteria were numerically higher in EoE-D, but not significant, with the exception of rete peg elongation. Conclusion. EoE-D patients have significantly higher eosinophils compared to EoE-AP, and the level of inflammation as seen from eosinophil microabscesses, superficial layering, desquamation, and the distribution around rete pegs is significantly higher.

Eosinophilic Esophagitis in Children and Adolescents with Abdominal Pain: Comparison with EoE-Dysphagia and Functional Abdominal Pain.

Aim. Compare EoE-AP with EoE-D for clinical, endoscopy (EGD), histology and outcomes and also with FAP-N. Method. Symptoms, physical findings, EGD, histology, symptom scores, and treatments were recorded for the three groups. Cluster analysis was done. Results. Dysphagia and abdominal pain were different in numbers but not statistically significant between EoE-AP and EoE-D. EGD, linear furrows, white exudates were more in the EoE-D and both combined were significant (p < 0.05). EoE-D, peak and mean eosinophils (p 0.06) and eosinophilic micro abscesses (p 0.001) were higher. Follow-Up. Based on single symptom, EoE-AP had 30% (p 0.25) improvement, EoE-D 86% (p < 0.001) and similar with composite score (p 0.57 and <0.001, resp.). Patients who had follow-up, EGD: 42.8% with EoE-AP and 77.8% with EoE-D, showed single symptom improvement and the eosinophil count fell from 38.5/34.6 (peak and mean) to 31.2/30.4 (p 0.70) and from 43.6/40.8 to 25.2/22.8 (p < 0.001), respectively. FAP-N patients had similar symptom improvement like EoE-D. Cluster Analysis. EoE-AP and FAP-N were similar in clinical features and response to treatment, but EoE-D was distinctly different from EoE-AP and FAP-N. Conclusion. Our study demonstrates that EoE-AP and EoE-D have different histology and outcomes. In addition, EoE-AP has clinical features similar to the FAP-N group.

Continuous 48-Hour Wireless Esophageal pH Monitoring in Children: Comparison Between Days 1 and 2.

AIM: Comparison of days 1 and 2 to each other and to the total recording of 48 hours in continuous 48-hour wireless esophageal pH monitoring in children. METHODS: A retrospective study of 105 patients who underwent 48-hour pH monitoring (Bravo) studies between January 1992 and June 2010 was performed. Reflux variables were compared between days 1 and 2. RESULTS: A total of 58 (55.2%) patients were men. The number of reflux episodes, number of long reflux >5 minutes, duration of the longest reflux (minutes), time pH <4 (minutes), fraction time pH <4 supine (%), fraction time pH <4 upright (%), reflux index, and DeMeester score did not differ between days 1 and 2. CONCLUSIONS: No effect of anesthesia was observed on the gastroesophageal reflux parameters on children.

CT findings in two cats with broncholithiasis.

CASE SERIES SUMMARY: Chronic inflammatory airway disease with secondary broncholithiasis was diagnosed in two cats from CT and bronchoalveolar lavage cytological findings. In one cat with progressively worsening lower respiratory tract signs, more than 80 discrete, highly attenuating endobronchial opacities were detected on thoracic CT. The broncholiths were distributed throughout the right middle, and left and right caudal lung lobes, and the caudal part of the left cranial and accessory lobes. In the other cat broncholithiasis was an incidental finding on thoracic radiographs taken during diagnostic investigation of inappetence. On thoracic CT, 25 calcified endobronchial opacities were detected in the left caudal lung lobe in secondary and tertiary bronchi. CT features of chronic inflammatory airway disease were present in both cases, including bronchiectasis, atelectasis, flattening of the diaphragm and bronchial wall thickening. RELEVANCE AND NOVEL INFORMATION: This is the first report to document CT features of broncholithiasis in cats. Feline broncholithiasis should be considered as a differential diagnosis in any case where calcified endobronchial material is evident on thoracic radiographs or CT.

Esophageal perforation: An uncommon initial manifestation of eosinophilic esophagitis.

EoE-Perforation: Eosinophilic esophagitis (EoE) is commonly observed in children and young adults. Common manifestations of EoE include dysphagia and food impaction in adolescents and adults, whereas children present with failure to thrive, regurgitation, or heartburn and abdominal pain. We describe two patients presenting with esophageal perforation and EoE. Diagnosing perforation promptly is critical to minimize and/or to avoid the multitude of complications resulting from esophageal perforation and to treat EoE because if left untreated, this condition may result in the recurrence of perforation, major morbidity, or rarely death.

Effectiveness of anti-TNFα for Crohn disease: research in a pediatric learning health system.

OBJECTIVES: ImproveCareNow (ICN) is the largest pediatric learning health system in the nation and started as a quality improvement collaborative. To test the feasibility and validity of using ICN data for clinical research, we evaluated the effectiveness of anti-tumor necrosis factor-α (anti-TNFα) agents in the management of pediatric Crohn disease (CD). METHODS: Data were collected in 35 pediatric gastroenterology practices (April 2007 to March 2012) and analyzed as a sequence of nonrandomized trials. Patients who had moderate to severe CD were classified as initiators or non-initiators of anti-TNFα therapy. Among 4130 patients who had pediatric CD, 603 were new users and 1211 were receiving anti-TNFα therapy on entry into ICN. RESULTS: During a 26-week follow-up period, rate ratios obtained from Cox proportional hazards models, adjusting for patient and disease characteristics and concurrent medications, were 1.53 (95% confidence interval [CI], 1.20-1.96) for clinical remission and 1.74 (95% CI, 1.33-2.29) for corticosteroid-free remission. The rate ratio for corticosteroid-free remission was comparable to the estimate produced by the adult SONIC study, which was a randomized controlled trial on the efficacy of anti-TNFα therapy. The number needed to treat was 5.2 (95% CI, 3.4-11.1) for clinical remission and 5.0 (95% CI, 3.4-10.0) for corticosteroid-free remission. CONCLUSIONS: In routine pediatric gastroenterology practice settings, anti-TNFα therapy was effective at achieving clinical and corticosteroid-free remission for patients who had Crohn disease. Using data from the ICN learning health system for the purpose of observational research is feasible and produces valuable new knowledge.

Prevalence and epidemiology of overweight and obesity in children with inflammatory bowel disease.

BACKGROUND: Obesity is a significant public health threat to children in the United States. The aims were to: 1) Determine the prevalence of obesity in a multicenter cohort of children with inflammatory bowel disease (IBD); 2) Evaluate whether overweight and obese status is associated with patient demographics or disease characteristics. METHODS: We used data from the ImproveCareNow Collaborative for pediatric IBD, a multicenter registry of children with IBD, collected between April 2007 and December 2009. Children ages 2-18 years were classified into body mass index (BMI) percentiles. Bivariate analyses and multivariate logistic regression were used to compare demographic and disease characteristics by overweight (BMI >85%) and obese (BMI >95%) status. RESULTS: The population consisted of 1598 children with IBD. The prevalence of overweight/obese status in pediatric IBD is 23.6%, (20.0% for Crohn's disease [CD] and 30.1% for ulcerative colitis [UC] and indeterminate colitis [IC]). African American race (odds ratio [OR] 1.64, 95% confidence interval [CI] 1.10-2.48) and Medicaid insurance (OR 1.67, 95% CI 1.19-2.34) were positively associated with overweight/obese status. Prior IBD-related surgery (OR 1.73, 95% CI 1.07-2.82) was also associated with overweight and obese status in children with CD. Other disease characteristics were not associated with overweight and obesity in children with IBD. CONCLUSIONS: Approximately one in five children with CD and one in three with UC are overweight or obese. Rates of obesity in UC are comparable to the general population. Obese IBD patients may have a more severe disease course, as indicated by increased need for surgery. Sociodemographic risk factors for obesity in the IBD population are similar to those in the general population.

ImproveCareNow: The development of a pediatric inflammatory bowel disease improvement network.

UNLABELLED: There is significant variation in diagnostic testing and treatment for inflammatory bowel disease. Quality improvement science methods can help address unwarranted variations in care and outcomes. METHODS: The ImproveCareNow Network was established under the sponsorship of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the American Board of Pediatrics as a prototype for a model of improving subspecialty care that included three components: 1) creating enduring multicenter collaborative networks of pediatric subspecialists, 2) sharing of performance data collected in patient registries, and 3) training in quality improvement. The network began with a focus on improving initial diagnostic testing and evaluation, the classification of the severity and extent of disease, the detection and treatment of inadequate nutrition and growth, and the appropriate dosing of immunomodulator medications. Changes are based on an evidence-based model of chronic illness care involving the use of patient registries for population management, previsit planning, decision support, promoting self-management, and auditing of care processes. RESULTS: Currently, patients are being enrolled at 23 sites. Through 2009, data have been analyzed on over 2500 patients from over 7500 visits. Initial results suggest improvements in both care processes (e.g., appropriate medication dosing and completion of a classification bundle that includes the patient's diagnosis, disease activity, distribution and phenotype, growth status, and nutrition status) and outcomes (e.g., the percentage of patients in remission). CONCLUSIONS: These improvements suggest that practice sites are learning how to apply quality improvement methods to improve the care of patients.

Successful wireless capsule endoscopy for a 2.5-year-old child: obscure gastrointestinal bleeding from mixed, juvenile, capillary hemangioma-angiomatosis of the jejunum.

The lesion responsible for obscure gastrointestinal bleeding in the pediatric population may not be determined with standard primary endoscopic methods. Wireless capsule endoscopy, now a first-line modality for evaluation of the small bowel in the adult population, is a tool that may be useful among children. We report a case of a 2.5-year-old girl who presented with melenic stools. Upper and lower endoscopy, Meckel scans, and mesenteric angiography yielded negative results. Wireless capsule endoscopy identified numerous abnormal, dilated, blood vessels in the proximal jejunum, with associated fresh blood. The patient underwent surgical exploration, with resection of the affected portion of the jejunum. Pathologically, the dilated blood vessels were consistent with mixed, juvenile, capillary hemangioma-angiomatosis of developmental or congenital origin. The patient fared well postoperatively, with no additional bleeding in 9 months of follow-up monitoring. This case report highlights the use of capsule endoscopy in the diagnosis and successful treatment of gastrointestinal bleeding in a young infant. This is the youngest reported patient treated with the use of wireless capsule endoscopy in the pediatric population.