Delayed Diagnosis of X-linked Lymphoproliferative Syndrome Type 2 in a 17-year-old Male With Severe Crohn's Disease and Recurrent Skin Infections.

X-linked lymphoproliferative syndrome type 2 (XLP2) is a rare genetic primary immunodeficiency disease caused by mutations in the gene that lead to deficiency of the X-linked inhibitor of apoptosis protein. XLP2 is characterized by dysregulated immune responses and can result in an inflammatory bowel disease (IBD)-like phenotype, a form of monogenic IBD. Patients with XLP2 often succumb to fulminant hemophagocytic lymphohistiocytosis or Epstein-Barr virus infections.

Influence of Age and Type 1 Diabetes Mellitus on Serological Test for Celiac Disease in Children.

Purpose: Serological tests of tissue transglutaminase (TTG) and deamidated gliadin (DGP) antibodies for celiac disease diagnosis show conflicting correlation with histology in young children and in type 1 diabetes mellitus (T1DM). Tests' ability to predict histology and cutoff values based on age and T1DM was evaluated.

Methods: A retrospective study of children who had celiac serological tests between 6/1/2002 and 12/31/2014 at a pediatric hospital.

Development and Testing of a New Simplified Endoscopic Mucosal Assessment for Crohn's Disease: The SEMA-CD.

Objectives: Endoscopic mucosal improvement is the gold standard for assessing treatment efficacy in clinical trials of Crohn's disease. Current endoscopic indices are not routinely used in clinical practice. The lack of endoscopic information in large clinical registries limits their use for research.

Use of Electronic Health Record Tools to Facilitate and Audit Infliximab Prescribing.

Objectives: The objective of this project was to assess a pediatric institution's use of infliximab and develop and evaluate electronic health record tools to improve safety and efficiency of infliximab ordering through auditing and improved communication.

Methods: Best use of infliximab was defined through a literature review, analysis of baseline use of infliximab at our institution, and distribution and analysis of a national survey. Auditing and order communication were optimized through implementation of mandatory indications in the infliximab orderable and creation of an interactive flowsheet that collects discrete and free-text data.

Safety of Secretin Administration in Children.

Objective: The aim of this study was to compare the hemodynamic parameters from the anesthesia records of children who underwent upper gastrointestinal endoscopy (esophagogastroduodenoscopy [EGD]) with and without secretin pancreatic function tests (sPFTs).

Methods: The hemodynamic parameters were retrieved from an electronic anesthesia database. The secretin group consisted of 186 children, and the age- and sex-matched control group included 136 patients who did not have sPFTs.

Provider Communication Regarding Psychosocial Factors Predicts Pain Beliefs in Parent and Child.

Objective: To examine the role of provider communication about psychosocial causes of abdominal pain and recommendations for psychosocial intervention during a gastroenterology clinic visit in predicting families' causal beliefs and perceptions of treatment acceptability.

Method: Participants were 57 children with a diagnosed or suspected abdominal pain-related functional gastrointestinal disorder (FGID) presenting for an outpatient gastroenterology follow-up visit and their accompanying parent. Children and parents completed questionnaires assessing child anxiety and abdominal pain severity, recall of provider communication about causes of abdominal pain and recommendations for intervention, their own causal beliefs about pain, and perceived acceptability of cognitive behavioral therapy (CBT) and standard medical treatment (SMT) after reading descriptions of each treatment.

Exposure to Gastric Acid-Suppression Therapy Is Associated With Health Care- and Community-Associated Clostridium difficile Infection in Children.

Objective: The aim of the study was to determine whether gastric acid-suppression therapy is associated with Clostridium difficile infection (CDI) in both inpatient and outpatient pediatric populations.

Methods: We conducted a retrospective case-control study at a 200-bed academic pediatric hospital and associated outpatient clinics during 2005-2010. We defined cases as children 1 to 18 years of age with a first positive test for C difficile toxin A/B, and matched each case to 2 controls without C difficile.

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.

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.

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.

Laboratory values for children with newly diagnosed inflammatory bowel disease.

Objective: The goal was to determine how often common laboratory tests yield normal results at the time of diagnosis for children with inflammatory bowel disease.

Methods: Data were obtained from a registry of children with newly diagnosed inflammatory bowel disease who were enrolled prospectively in 18 US/Canadian centers. Laboratory values investigated included hemoglobin level, platelet count, albumin level, and erythrocyte sedimentation rate.

Health-related quality of life in the first year after a diagnosis of pediatric inflammatory bowel disease.

Background And Aims: Assessment of health-related quality of life (HRQOL) is of increasing importance in the evaluation of new therapies for inflammatory bowel disease (IBD). Available data concerning HRQOL in pediatric patients are sparse and uniformly cross-sectional. The aim of this study was to describe HRQOL and influential factors in newly diagnosed pediatric patients with Crohn's disease and ulcerative colitis during the first 12 months after diagnosis.

Corticosteroid therapy in the age of infliximab: acute and 1-year outcomes in newly diagnosed children with Crohn's disease.

Background & Aims: The aim of this study was to describe 3-month and 1-year outcomes of children with Crohn's disease (CD) treated with corticosteroids within 30 days of diagnosis, with particular emphasis on the influence of infliximab on these outcomes. We also aimed to determine whether there are clinical or laboratory characteristics associated with corticosteroid therapy outcomes.

Methods: Data from 109 children were drawn from a multicenter observational registry that was started in 2002.

The natural history of corticosteroid therapy for ulcerative colitis in children.

Background & Aims: The aim of this study was to determine the clinical outcome after corticosteroid therapy in children who are newly diagnosed with ulcerative colitis (UC).

Methods: Data were gathered prospectively from the Pediatric Inflammatory Bowel Disease Collaborative Research Group Registry database between January 2002 and March 2005. All children who were newly diagnosed with inflammatory bowel disease younger than the age of 16 years were managed according to the dictates of their respective physicians.

Patterns of complementary and alternative medicine use in a population of pediatric patients with inflammatory bowel disease.

Complementary and alternative medicine use is prominent in the United States. The use of complementary and alternative therapies appears to be common in patients with inflammatory bowel disease, but few studies have been completed in children. We sought to examine the extent that children with inflammatory bowel disease in the Greater Philadelphia area (Philadelphia County and the surrounding counties in Delaware, New Jersey, and Pennsylvania) use alternative therapies.

Retrospective analysis of alternate-day prednisone maintenance therapy for Crohn's disease.

We reviewed the medical records of 98 children with Crohn's disease followed at Children's Hospital of Pittsburgh from 1983 to 1993 to evaluate the merits of alternate-day prednisone (AD) maintenance therapy once initial remission was achieved. Of the 98 children, 35 had adequate data recorded for eligibility to the study. Of these, 11 were in the AD group and 24 were in a group whose maintenance regimen did not include prednisone (NO).

Distribution of acute bowel inflammation determined by technetium-labeled white blood cells in children with inflammatory bowel disease.

Knowledge of the distribution of disease in patients with inflammatory bowel disease is important because it has diagnostic, prognostic, and therapeutic implications. We studied 215 patients with 99mTc-HMPAO-white blood cell scans, of whom 80 had Crohn's disease (CD), 34 had active ulcerative colitis (UC), and 31 were controls. In our 77 cases of active CD, uptake was seen exclusively in the small bowel in 18% of patients, only the large bowel in 44%, and both the large and small bowel in 38% of patients.