Gastrointestinal Symptoms in Type 1 Diabetes: Relationship With Autoimmune and Microvascular Complications.

PURPOSE: To assess reported rates of gastrointestinal (GI) symptoms and their association with autoimmune diseases and microvascular complications in adults and children with type 1 diabetes. METHODS: The Gastrointestinal Symptom Scale was used to assess GI symptom type and severity in 2370 patients with type 1 diabetes aged 8 to 45 years evaluated as part of a clinical trial screening for celiac disease (CD). The presence and severity of GI symptoms and relationships with demographic, clinical, and other diabetes-related factors were evaluated. RESULTS: Overall, 1368 adults (57.7%) aged 19 to 45 years and 1002 (42.3%) pediatric patients aged 8 to 18 years were studied. At least 1 GI symptom was reported in 34.1% of adults as compared with 21.7% of children (P < 0.0001). Common symptoms in children included upper and lower abdominal pain while adults more frequently reported lower GI symptoms. Participants with GI symptoms had higher hemoglobin A1c (HbA1c) levels (68 ±â€…14mmol/mol; 8.35 ±â€…1.37%) than those without symptoms (66 ±â€…15mmol/mol; 8.22 ±â€…1.40%; P = 0.041). Patients with microvascular complications (nephropathy, retinopathy, and/or neuropathy) were 1.8 times more likely to report GI symptoms (95% CI: 1.26-2.60; P < 0.01) after adjusting for age and sex. No association was observed between GI symptoms and the presence of autoimmune conditions, including thyroid and biopsy-confirmed CD (odds ratio = 1.1; 95% CI: 0.86-1.42; P = 0.45). MAIN CONCLUSIONS: These results highlight that GI symptoms are an important clinical morbidity and are associated with increasing age, duration of type 1 diabetes, HbA1c, and microvascular complications but not with autoimmune comorbidities including CD.

Accuracy of Screening Tests for Celiac Disease in Asymptomatic Patients With Type 1 Diabetes.

INTRODUCTION: To evaluate the diagnostic performance of celiac serologic tests in asymptomatic patients with type 1 diabetes (T1D). METHODS: Patients with T1D asymptomatic for celiac disease were prospectively screened with immunoglobulin A anti-tissue transglutaminase. Test characteristics were calculated and optimal cutoffs for a positive screen determined. RESULTS: Two thousand three hundred fifty-three patients were screened and 101 proceeded to biopsy. The positive predictive value of immunoglobulin A anti-tissue transglutaminase at the assay referenced upper limit of normal (30CU) was 85.9%, and the sensitivity and specificity were 100% and 38%, respectively. DISCUSSION: Thresholds extrapolated from the general population for the diagnostic evaluation of celiac disease are not suitable for use in asymptomatic T1D patients. Population-specific screening cutoffs are required.

Impact of a Gluten-Free Diet on Quality of Life and Health Perception in Patients With Type 1 Diabetes and Asymptomatic Celiac Disease.

CONTEXT: Celiac disease (CD) is a common comorbidity seen in patients with type 1 diabetes (T1D) and is frequently asymptomatic. As chronic conditions requiring significant lifestyle changes, there are limited reports assessing changes in health-related quality of life (HRQoL) during transition to a gluten-free diet (GFD) in patients with T1D who are asymptomatic for CD. OBJECTIVE: This work aims to prospectively assess HRQoL and health perception in children and adults with T1D and asymptomatic CD after random assignment to GFD vs usual diet. METHODS: Patients with T1D aged 8 to 45 years without CD symptoms were serologically screened for CD, with positive results confirmed with intestinal biopsy. Participants were randomly assigned in an open-label fashion to a GFD or gluten-containing diet (GCD) for 12 months. Generic and diabetes-specific HRQoL and self-perceived wellness (SPW) were assessed longitudinally. RESULTS: A total of 2387 T1D patients were serologically screened. CD was biopsy-confirmed in 82 patients and 51 participants were randomly assigned to a GFD (N = 27) or GCD (N = 24). Excellent adherence to the assigned diets was observed. Overall, no changes in generic (P = .73) or diabetes-specific HRQoL (P = .30), or SPW (P = .41) were observed between groups over 12 months. Hemoglobin A1c (HbA1c) and gastrointestinal symptoms were consistent predictors of HRQoL and SPW. CONCLUSION: HRQoL and SPW were not significantly affected by the adoption of a GFD over 12 months, but worsened with symptom onset and increased HbA1c. Our findings indicate that transition to a GFD can be made successfully in this population without adversely affecting quality of life.

Screening and Treatment Outcomes in Adults and Children With Type 1 Diabetes and Asymptomatic Celiac Disease: The CD-DIET Study.

OBJECTIVE: To describe celiac disease (CD) screening rates and glycemic outcomes of a gluten-free diet (GFD) in patients with type 1 diabetes who are asymptomatic for CD. RESEARCH DESIGN AND METHODS: Asymptomatic patients (8-45 years) were screened for CD. Biopsy-confirmed CD participants were randomized to GFD or gluten-containing diet (GCD) to assess changes in HbA1c and continuous glucose monitoring over 12 months. RESULTS: Adults had higher CD-seropositivity rates than children (6.8% [95% CI 4.9-8.2%, N = 1,298] vs. 4.7% [95% CI 3.4-5.9%, N = 1,089], P = 0.035) with lower rates of prior CD screening (6.9% vs. 44.2%, P < 0.0001). Fifty-one participants were randomized to a GFD (N = 27) or GCD (N = 24). No HbA1c differences were seen between the groups (+0.14%, 1.5 mmol/mol; 95% CI -0.79 to 1.08; P = 0.76), although greater postprandial glucose increases (4-h +1.5 mmol/L; 95% CI 0.4-2.7; P = 0.014) emerged with a GFD. CONCLUSIONS: CD is frequently observed in asymptomatic patients with type 1 diabetes, and clinical vigilance is warranted with initiation of a GFD.

Outcomes of multi-gestational pregnancies affected by esophageal atresia - tracheoesophageal fistula.

BACKGROUND: Contemporary outcomes of infants with esophageal atresia with or without tracheoesophageal fistula (EA/TEF) from multi-gestational pregnancies compared to those of singleton pregnancies have not been reported. METHODS: A single-center retrospective review of EA/TEF patients born from 1999 to 2013 was performed. Patient demographics, gestational age (GA), birth weight, associated anomalies, requirement for gastrostomy tube and mortality were reviewed. RESULTS: Singleton EA/TEF patients outnumbered those from multi-gestational pregnancies nearly 10:1 (214 vs 22 patients). EA/TEF patients from multi-gestational pregnancies were more likely to be premature (77% vs. 32%), have lower birth weight (mean 1766 g vs. 2695 g), have associated duodenal atresia (18% vs. 6%) and require gastrostomy tube (41% vs. 33%) for feeding challenges compared to EA/TEF singletons. Mortality was also significantly greater for multi-gestational EA/TEF patients compared to singleton EA/TEF patients (18% vs. 6%). CONCLUSION: EA/TEF infants from multi-gestational pregnancies have greater clinical complexity and mortality than singleton EA/TEF patients. Parents of EA/TEF multi-gestational infants should be appropriately counseled and supported.

Diet patterns in an ethnically diverse pediatric population with celiac disease and chronic gastrointestinal complaints.

INTRODUCTION: Celiac disease (CD) is an autoimmune disease requiring lifelong adherence to the gluten-free diet (GFD). The GFD has significant nutritional limitations which may result in poor diet quality (DQ). We hypothesized that biopsy-proven children with CD (CCD) would have dietary patterns characterized by high saturated fat/simple sugar intake with a low micronutrient density contributing to lower DQ when compared to children with mild-gastrointestinal complaints (GI-CON). In addition, we hypothesized that ethnicity may further impact DQ. METHODS: Socio-demographic (age, CD duration, parent/child ethnicity, education), household characteristics, anthropometric, dietary intake (24-h recalls), gastrointestinal pain and adherence was collected in CCD (n = 243) and GI-CON (n = 148). Dietary patterns were determined using k-mean Cluster Analysis. RESULTS: GI-CON had significantly lower DQ than CCD (p < 0.001). Most CCD and GI-CON (>80%) had dietary patterns characterized by1) Western Diet (Cluster 1: %BMR: 110-150, low DQ, high fat, moderate CHO, high sodium) and 2) High Fat-Western Diet (Cluster 2: %BMR:130-150, low DQ, high Fat, high processed meats, high fat dairy products, CHO. Fewer children (<20%) had Prudent, Lower Fat/High Carbohydrate dietary patterns (% BMR:100-150, higher DQ, lower fat/sodium, higher CHO) with a greater proportion of non-Caucasian CCD consuming a Prudent dietary pattern. Seventy-seven percent and 37.5% of CCD and GI-CON, respectively, did not meet estimated average requirements for folate (p < 0.001). CONCLUSIONS: CCD and GI-CON have predominantly Western dietary patterns with low DQ, particularly GI-CON. Non-caucasian CCD consume more prudent dietary patterns with higher DQ. Nutrition education is warranted to ensure optimal DQ in children with chronic gastrointestinal diseases.

Requirement and Duration of Tube Feed Supplementation among Congenital Diaphragmatic Hernia Patients.

PURPOSE: Oral feeds pose a challenge for congenital diaphragmatic hernia (CDH) infants. Tube feed (TF) supplementation may be required to support the achievement of normal growth. The aim of this study was to determine the duration and factors associated with TF use in CDH infants at our institution. METHODS: A single centre retrospective chart review was performed for CDH-born infants who underwent repair between 2000 to 2013 (REB #1000053124). Patient demographics, perinatal management, and feeding status of infants with at least 1-year follow-up were reviewed. RESULTS: Of 160 CDH infants, 32 (20%) were discharged on partial or complete TF, and an additional 5 (3.1%) patients started TF post discharge. CDH infants with TF were more likely to have initial arterial blood pH < 7.25, patch repair, ECMO support, and prolonged ICU stay (p < 0.05). Time to TF discontinuation did not differ significantly between those partially or fully TF at discharge. Twelve patients (33.3%) remained TF at their last known follow-up. CONCLUSION: High risk CDH patients are likely to require TF to support their nutritional intake. Parents and caregivers need to be informed and properly supported. Long-term monitoring of CDH patient oral intake, growth, and development will be required. LEVEL OF EVIDENCE/TYPE OF STUDY: Level III Retrospective Study.

Online education for gluten-free diet teaching: Development and usability testing of an e-learning module for children with concurrent celiac disease and type 1 diabetes.

BACKGROUND AND OBJECTIVE: Celiac disease (CD), the most common genetically-based food intolerance, affects 3% to 16% of children with type 1 diabetes (T1D). Treatment involves lifelong adherence to a gluten-free diet (GFD). Individualized dietary education is resource-intensive. We, therefore, sought to develop and test the usability of an e-learning module aimed at educating patients and caregivers regarding implementation of the GFD in children with concurrent CD and T1D. METHODS: An interactive e-learning module was developed based on extensive review of CD, T1D, and educational literature. A mixed-methods usability testing approach was used to refine and evaluate the module, using qualitative semi-structured interviews, observations, and satisfaction and knowledge questionnaires in two iterative cycles. The module was refined based on themes identified from each usability cycle. RESULTS: Eighteen patients (8 in cycle 1, 10 in cycle 2) and 15 caregivers (7 in cycle 1, 8 in cycle 2) participated. Patient participants had CD and T1D for a mean (SD) of 6.1 ± 5.1 and 8.3 ± 5.5 years, respectively. Their mean age was 13.5 ± 4.5 years. Thematic analysis of usability interviews showed the module to be appealing and resulted in minor module revisions after each cycle to improve usability. Mean satisfaction scores post-module completion were high (4.67 ± 0.54), indicating participants were "very satisfied" with the education. Knowledge test scores increased significantly from pre- to post-module completion (P = 0.001). CONCLUSION: A multifaceted user-centered usability approach demonstrated that an innovative, interactive e-learning module is effective in knowledge retention and can provide comprehensive and accessible information in the implementation of the GFD teaching in children with CD and T1D.

In Screening for Celiac Disease, Deamidated Gliadin Rarely Predicts Disease When Tissue Transglutaminase Is Normal.

OBJECTIVE: While tissue transglutaminase (tTG) antibodies are the most established serological test for celiac disease, newer deamidated gliadin peptide (DGP) screening tests are increasingly being completed. No pediatric study has systematically assessed the incidence of celiac disease in patients with an isolated positive DGP result. We sought to determine the positive predictive value of DGP serology for biopsy-confirmed celiac disease in pediatric patients with elevated DGP and normal tTG, to help guide clinicians' decision making when screening for this common condition and avoid unnecessary invasive follow-up diagnostic testing. METHODS: A multicenter retrospective review of children, from birth to age 18, with isolated DGP immunoglobulin G (IgG) positive serology referred to 3 Canadian centers was completed. The positive predictive value of an isolated elevated DGP result was calculated. RESULTS: Forty patients with DGP positive, tTG negative serology underwent endoscopy with duodenal biopsy. Of these, only 1 patient had biopsy-confirmed celiac disease. This patient was IgA deficient. This yields a positive predictive value of 2.5% (95% confidence interval 0.1%-14.7%) for isolated DGP IgG positive serology. CONCLUSIONS: In isolation, DGP positive serology has a poor positive predictive value for celiac disease in children, especially in IgA sufficient individuals. Our findings suggest that DGP IgG testing should not be completed as part of the initial screening for celiac disease in the pediatric population as it does not effectively differentiate between individuals with and without the disease. Further research is needed to clarify to role of DGP IgG in children under the age of 2 and those with IgA deficiency.

Neurodevelopmental outcomes of infants with esophageal atresia and tracheoesophageal fistula.

BACKGROUND: Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is a complex disorder, and most outcome data are confined to mortality and feeding-related morbidities. Our objective was to examine mortality, growth and neurodevelopmental outcomes in a large recent cohort of infants with EA/TEF. METHODS: Single center study of EA/TEF infants referred from January 2000 to December 2015. Data collected included associated defects, neonatal morbidity and mortality and growth and neurodevelopmental outcomes at age 12-36months. Multiple regression analysis was used to determine variables associated with adverse outcome. RESULTS: Of the 253 infants identified, 102 infants (40%) were preterm. Overall mortality was 8.3%, the majority from major cardiac malformations (p<0.001) Neurodevelopmental assessments (n=182) showed that 76% were within normal, while some delay was seen in 24%, most often in expressive and receptive language. Nine infants had hearing impairment and 5 had visual impairment. Gastrostomy tubes were required in 47 patients and 15% continued to have weight growth velocities less than the 10th centile. A number of specialist interventions were required, Speech/Language being frequent. CONCLUSION: Mortality in EA/TEF is primarily related to concomitant anomalies, especially cardiac. Multidisciplinary follow up is important for early identification and intervention for growth failure and developmental delay. TYPE OF STUDY: Retrospective study LEVEL OF EVIDENCE: Level II.

Pulmonary function and nutritional morbidity in children and adolescents with congenital diaphragmatic hernia.

BACKGROUND: Malnutrition is common among congenital diaphragmatic hernia (CDH) survivors and may result from elevated respiratory effort. We evaluated body mass index (BMI), measured resting energy expenditure (mREE) and pulmonary function test (PFT) results in children and adolescents with CDH to determine if there is a correlation. METHODS: With ethics approval (REB# 1000035323), anthropometrics, indirect calorimetry (IC) results and PFTs were collected from patients 5-17years of age during CDH clinic visits between 2000 and 2016. Malnutrition was defined as BMI z-scores <-2.0; mREE (as percent predicted REE) was measured using IC; z-scores for forced expiratory volume in 1s (FEV1) and forced vital capacity (FVC) were normal if <-1.64. STATISTICS: GraphPad Prism 6, San Diego, CA. RESULTS & DISCUSSION: Of 118 patients who attended clinic, 33 had reproducible PFTs, anthropometrics and IC results. Mean BMI z-score was -0.89±1.47 and 24% of patients were malnourished; mean FVC z-score (-1.32±1.39) was within normal range, whereas mean z-scores for FEV1 (-2.21±1.68) and FEV1/FVC ratio (-1.78±0.73) were below normal. A correlation was noted between BMI and PFTs (FEV1 r=0.70, P<0.0001; FVC r=0.74 P<0.0001). Mean mREE was 112%±12% of expected and 67% of patients were hypermetabolic (mREE<110% predicted). IC results did not correlate with z-scores for either FEV1 (r=0.10, P=0.57); or FVC (r=0.28, P=0.12). CONCLUSIONS: These preliminary results suggest that a correlation is present between BMI and lung function in CDH children and adolescents, whereas lung function does not seem to correlate with mREE. LEVEL OF EVIDENCE: II.

Congenital diaphragmatic hernia: Observed/expected lung-to-head ratio as a predictor of long-term morbidity.

AIM: The aim of this study was to investigate the association of observed/expected (O/E) lung-to-head ratio (LHR) with long-term morbidity for isolated fetal congenital diaphragmatic hernia (CDH) patients in a single institution. METHODS: We performed a retrospective study of prenatally diagnosed CDH from 18 to 38weeks of gestation (01/2002-04/2010). Two cohorts of O/E LHR were defined (22.6-45%, 45.1-78.3%) based upon previous studies. Survivors with at least 1-year follow-up of prospectively collected long-term morbidity assessments were included. RESULTS: O/E LHR was available in 43 survivors (median 40%, range 22.8-78.3%). Follow-up data were available in 41 survivors (M:F=24:17, left CDH=39/41). Median follow-up was 6.5years (1-11years). Height/weight trajectories were similar between the two cohorts, with the majority below the 50th centile. There were no differences between the two cohorts by age 3years for Bayley scales (developmental domains) and/or REEL-3 (language development). In addition, V/Q scans in the two cohorts demonstrated similar degrees of mismatch (mean delta V/Q=35.4 versus 31.3). CONCLUSIONS: In fetuses with isolated CDH, a reduction in O/E LHR does not predict a worse outcome in long-term follow-up. There is no association between a lower O/E LHR and a reduction in REEL-3 or Bayley score nor V/Q mismatch.

Parental Health Beliefs, Socio-demographics, and Healthcare Recommendations Influence Micronutrient Supplementation in Youth with Celiac Disease.

To identify parental influences affecting micronutrient supplementation in children and adolescents (2-18 years of age) with Celiac Disease (CD), a multi-method (survey, focus groups) study was conducted. A 35-item questionnaire consisting of open- and closed-ended questions was launched nationally via Canadian Celiac Association internet sites. Five focus groups were conducted using a semi-structured interview guide. The survey and semi-structured interview guide content was vetted for face and content validity. Thematic analyses were conducted on the focus group content and open-ended survey questions, and χ(2) and Fischer's exact analysis were performed on closed-ended survey data. Survey respondents were predominantly mothers (97%) of female children (80 F, 49 M) between the ages of 9-12 (31%) with CD, residing in western provinces (55%) with a combined family income ≥$100 000/year (63%). Seventy-seven percent of parental respondent's children or adolescents consumed micronutrient supplements, for 1-5 years (52%), 7 days a week (65%), as both multi-vitamin and single vitamin preparations (40%). Parental influences on child micronutrient use included health beliefs and knowledge, parental supplement use, supplement characteristics, age of child (above or below 13 years), household routines, and provincial residential status (P < 0.05). Parents relied on health professional recommendation (69%; MD, RD) and the internet (21%) as sources of information regarding child micronutrient supplementation. Parental health beliefs and knowledge, socio-demographic factors, and practitioner recommendation influence micronutrient supplement use in children and adolescents with CD.

Celiac Disease and Type 1 Diabetes in Adults: Is This a High-Risk Group for Screening?

The association between celiac disease (CD), an autoimmune condition involving intestinal inflammation related to gluten ingestion, and type 1 diabetes has long been recognized. CD prevalence rates 4 to 6 times greater in adults with type 1 diabetes than in the general population. Much of the existing literature focuses on important implications related to the impact of a gluten-free diet on short-term outcomes in metabolic control and quality of life. Canadian Diabetes Association guidelines recommend targeted CD screening in patients with type 1 diabetes who have classic symptoms, such as abdominal pain, bloating, diarrhea, unexplained weight loss or labile metabolic control; however, a significant proportion (40% to 60%) of patients may have mild or absent symptoms. Recent evidence suggests that adult patients with both conditions are at higher risk for diabetes microvascular comorbidities, increased mortality and impaired bone health if the CD is untreated. The purpose of this review is to describe the association between CD and type 1 diabetes and to summarize recent literature that evaluates risks in patients with both conditions.

Long-term burden of care and radiation exposure in survivors of esophageal atresia.

BACKGROUND: Patients with esophageal atresia with or without tracheoesophageal fistula (EA/TEF) historically have had a high risk of neonatal mortality but the majority of patients are now expected to live into adulthood. However, the long-term burden of care among recent EA/TEF survivors has not been documented. METHODS: A single-institution retrospective review of newborns with EA/TEF treated from 2001-2005 was conducted, including initial and total hospitalization length of stay, and number of clinic visits and procedures requiring general anesthesia in the first three years of life. Exposure to and number of radiological studies involving ionizing radiation (IR) were recorded. RESULTS: Seventy-one of 78 (91%) patients survived to discharge and 69 were included for analysis. Mean length of initial hospital stay was 51.3 (range 9-390) days. By age 3 years, patients required 4.5 (mean, range 1-23) procedures performed under general anesthesia, attended 13.5 (mean, range 3-40) outpatient visits and were exposed to 17.4 mSv (mean, range 3.0-59.9) of IR from 40 (mean, range 5-165) radiological studies. CONCLUSION: Patients with EA/TEF need complex and frequent hospital-based care from infancy to early childhood. Opportunities to critically review clinical services and imaging needs should be explored to improve the experience of patients and their families.

The Celiac Disease and Diabetes-Dietary Intervention and Evaluation Trial (CD-DIET) protocol: a randomised controlled study to evaluate treatment of asymptomatic coeliac disease in type 1 diabetes.

INTRODUCTION: Coeliac disease (CD) is an autoimmune condition characterised by gluten-induced intestinal inflammation, and observed at a 5-10 fold greater prevalence in type 1 diabetes. While universal screening for CD in patients with diabetes is frequently advocated, objective data is limited as to benefits on diabetes control, bone health or quality of life related to the adoption of a gluten-free diet (GFD) in the large proportion of patients with diabetes with asymptomatic CD. The Celiac Disease and Diabetes-Dietary Intervention and Evaluation Trial (CD-DIET) study is a multicenter, randomised controlled trial to evaluate the efficacy and safety of a GFD in patients with type 1 diabetes with asymptomatic CD. METHODS AND ANALYSIS: Children and adults (8-45 years) with type 1 diabetes will be screened for asymptomatic CD. Eligible patients with biopsy-proven CD will be randomly assigned in a 1:1 ratio to treatment with a GFD for 1 year, or continue with a gluten-containing diet. The primary outcome will evaluate the impact of the GFD on change in glycated haemoglobin. Secondary outcomes will evaluate changes in bone mineral density, blood glucose variability and health-related quality of life between GFD-treated and the regular diet group over a 1-year period. The study was initiated in 2012 and has subsequently expanded to multiple paediatric and adult centres in Ontario, Canada. ETHICS AND DISSEMINATION: The findings from this study will provide high-quality evidence as to the impact of GFD treatment on glycaemic control and complications in asymptomatic children and adults with CD and type 1 diabetes. TRIAL REGISTRATION NUMBER: NCT01566110.

Long-term nutritional morbidity for congenital diaphragmatic hernia survivors: Failure to thrive extends well into childhood and adolescence.

BACKGROUND: Failure to thrive (FTT) is well documented among congenital diaphragmatic hernia (CDH) survivors ≤3years of age, but its etiology, severity, and persistence beyond this age require further elucidation. METHODS: We conducted a single-center, retrospective study assessing anthropometrics, measured energy expenditure, and feeding tube (FT) use of 5-17 year olds in our multidisciplinary CDH clinic since January 2001. We stratified clinic visits based on age A: 5.0-6.9, B: 7.0-9.9, C: 10.0-14.9, and D: 15-17.9years. RESULTS: One hundred sixteen patients with 376 outpatient visits were reviewed. Anthropometric z-scores were below zero and did not vary across age cohorts. FTT and growth stunting each occurred in 14% of clinic visits. FTs inserted during infancy occurred in 25% of patients, and 60% remained by age 7years. In cohort A, those with FTs were lighter and shorter than those without (p<0.05) but had similar BMIs. FTT incidence was higher in the FT group (p=0.020), but FTs were present in only 30% of those with FTT. Indirect calorimetry revealed increased energy expenditure in 58% of patients. CONCLUSIONS: Failure to thrive continues in long-term CDH survivors, FTs may not improve incidence of FTT. Increased energy expenditure may play a role.

Celiac Disease Alone and Associated With Type 1 Diabetes Mellitus.

OBJECTIVES: The aim of the study was to evaluate complication screening and follow-up patterns in a population with type 1 diabetes mellitus and celiac disease (T1D/CD) in relation to a matched cohort with celiac disease (CD) alone at our center. METHODS: We retrospectively reviewed the health charts of 41 children with T1D and biopsy-proven CD and compared anthropometrics and complication of screening within 2 years from CD diagnosis. Follow-up patterns were determined 3 years postdiagnosis. This population was then compared with a population with both symptomatic and asymptomatic CD matched for age and sex. RESULTS: In comparison with T1D/CD, patients with CD alone had a significantly lower height, weight and body mass index (BMI z score 0.01 vs 0.81, P = 0.001) and higher rates of screening for anemia (95% vs 71%, P = 0.003) and bone health (49% vs 29%, P = 0.05). Minimal rates of laboratory abnormalities were observed in either group, irrespective of symptoms at presentation, but CD alone more often presented with anemia than T1D/CD. Repeat serology testing was significantly more frequently performed in the T1D/CD group. Follow-up was equally variable with a median of 3 (range 0-4) visits with a gastroenterologist during the first 3 years postdiagnosis. CONCLUSIONS: These results suggest that patients with T1D/CD represent a distinct and possibly milder phenotype from CD alone. Complication screening was variable and negative for the majority of the patients. Guidelines for follow-up may need to be tailored to specific groups to standardize evaluation and complication screening, especially with regard to bone health.

A child with autoimmune polyendocrinopathy candidiasis and ectodermal dysplasia treated with immunosuppression: a case report.

INTRODUCTION: Common features of autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia include candidiasis, hypoparathyroidism and hypoadrenalism. The initial manifestation of autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia may be autoimmune hepatitis, keratoconjunctivitis, frequent fever with or without a rash, chronic diarrhea, or different combinations of these with or without oral candidiasis. CASE PRESENTATION: We discuss a profoundly affected 2.9-year-old Caucasian girl of Western European descent with a dramatic response to immunosuppression (initially azathioprine and oral steroids, and then subsequently mycophenolate mofetil monotherapy). At four years of follow-up, her response to mycophenolate mofetil is excellent. CONCLUSION: The clinical features of autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia may continue for years before some of the more common components appear. In such cases, it may be life-saving to diagnose autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia and commence therapy with immunosuppressive agents. The response of our patient to immunosuppression with mycophenolate mofetil has been dramatic. It is possible that other patients with this condition might also benefit from immunosuppression.

Inflammatory bowel disease manifesting after surgical treatment for Hirschsprung disease.

Eight children developed chronic inflammatory bowel disease (IBD) 4 to 21 years after surgery for Hirschsprung disease. Three had trisomy 21 and 6 experienced chronic or recurrent enterocolitis. Four had a family history of IBD. Clinical presentation included chronic diarrhea, hematochezia, abscess, and fistula formation. Three required surgery for fistula, stricture, and small bowel obstruction and the other 5 were managed medically. Recognition of this condition may be important in the long-term follow-up of children with Hirschsprung disease, and patients who have carried a diagnosis of chronic enterocolitis may warrant further investigation looking for evidence of IBD.