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The incidence of celiac disease in first-degree relatives of affected individuals is higher than in the general population, yet the clinical characteristics of this unique subset of patients has not been well described. Through a retrospective review of patients seen in a tertiary care pediatric celiac disease clinic, we identified 49 patients diagnosed with celiac disease following screening due to an affected first-degree relative. Although 51% of patients screened due to an affected first-degree relative were asymptomatic, their disease histology was as severe as those screened for symptoms suggestive of celiac disease. These findings support current recommendations to screen all first-degree relatives of patients with celiac disease regardless of clinical symptoms.
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Enfermedad Celíaca , Niño , Humanos , Enfermedad Celíaca/complicaciones , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/epidemiología , Familia , Estudios Retrospectivos , Tamizaje Masivo , PrevalenciaRESUMEN
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.
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Enfermedades Asintomáticas , Enfermedad Celíaca/diagnóstico , Diabetes Mellitus Tipo 1/complicaciones , Adolescente , Adulto , Biopsia , Enfermedad Celíaca/inmunología , Enfermedad Celíaca/patología , Niño , Duodeno/patología , Femenino , Proteínas de Unión al GTP/inmunología , Humanos , Inmunoglobulina A/inmunología , Masculino , Tamizaje Masivo , Valor Predictivo de las Pruebas , Proteína Glutamina Gamma Glutamiltransferasa 2 , Sensibilidad y Especificidad , Pruebas Serológicas , Transglutaminasas/inmunología , Adulto JovenRESUMEN
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.
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Autoanticuerpos/sangre , Enfermedad Celíaca/diagnóstico , Gliadina/sangre , Tamizaje Masivo/estadística & datos numéricos , Pruebas Serológicas/estadística & datos numéricos , Adolescente , Biopsia , Canadá , Niño , Preescolar , Femenino , Proteínas de Unión al GTP/inmunología , Humanos , Inmunoglobulina A/sangre , Inmunoglobulina G/sangre , Lactante , Masculino , Tamizaje Masivo/métodos , Proteína Glutamina Gamma Glutamiltransferasa 2 , Estudios Retrospectivos , Sensibilidad y Especificidad , Pruebas Serológicas/métodos , Transglutaminasas/inmunologíaRESUMEN
Background and Aims: Smartphone applications aimed at patients with gastroesophageal reflux disease (GERD) have been downloaded more than 100,000 times, yet no systematic assessment of their quality has been completed. This study aimed to objectively assess the quality of GERD smartphone applications for patient education and disease management. Methods: The Apple App Store and Google Play Store were systematically searched for relevant applications. Two independent reviewers performed the application screening and eligibility assessment. Included applications were graded using the validated Mobile Application Rating Scale, which encompasses 4 domains (engagement, functionality, aesthetics, and information) as well as an overall application quality score. The associations between overall application quality, user ratings and download numbers were evaluated. Results: Of the 4816 unique applications identified, 46 met inclusion criteria (patient education = 37, disease management = 9). Mean overall application quality score was 3.02 ± 0.40 out of 5 ("acceptable"), with 61% (28/46) rated as "poor" (score 2.0-2.9). Applications scored highest for aesthetics (3.24 ± 0.48) and functionality (3.88 ± 0.37) and lowest for information (2.58 ± 0.64) and engagement (2.39 ± 0.65). Disease management applications were of significantly higher quality than education-focused applications (3.59 ± 0.38 vs 2.88 ± 0.26, P < .001). There was no correlation between graded quality and either user ratings or the number of downloads. Conclusion: While numerous smartphone applications exist to support patients with GERD, their quality is variable. Patient education applications are of particularly low quality. Our findings can help to inform the selection of applications by patients and guide clinicians' recommendations. This study also highlights the need for higher-quality, evidence-informed applications aimed at GERD patient education.
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BACKGROUND: When constipation is refractory to first-line interventions, antegrade enema use may be considered. We aimed to assess the impact of this intervention on healthcare utilization. METHODS: We conducted a population-based, quasi-experimental study with pre-post comparison of the intervention group and a non-equivalent control group using linked clinical and health administrative data from Ontario, Canada. Subjects included children (0-18 years) who underwent antegrade enema initiation from 2007 to 2020 and matched controls (4:1) from the general population. To assess the change in healthcare utilization following antegrade enema initiation, we used negative binomial generalized estimating equations with covariates selected a priori. KEY RESULTS: One hundred thirty-eight subjects met eligibility criteria (appendicostomy = 55 (39.9%); cecostomy tube = 83 (60.1%)) and were matched to 550 controls. There was no significant difference in the change in the rate of hospitalizations (rate ratio (RR) 1.05, 95% confidence interval (CI) 0.35-1.75), outpatient visits (RR 1.05, 95% CI 0.91-1.18), or same-day surgical procedures (RR 1.51, 95% CI 0.60-2.43) across cases in 2 years following antegrade enema initiation compared with controls. Cases had an increased rate of emergency department (ED) visits, which was not observed in controls (RR 1.52, 95% CI 1.11-1.79), driven in part by device-related complications. CONCLUSIONS AND INFERENCES: Understanding healthcare utilization patterns following antegrade enema initiation allows for effective health system planning and aids medical decision-making. The observed increase in ED visits for device-related complications speaks to the need to improve preventive management to help mitigate emergency care after initiation of antegrade enemas.
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Incontinencia Fecal , Humanos , Niño , Estudios de Cohortes , Incontinencia Fecal/etiología , Estudios Retrospectivos , Estreñimiento/complicaciones , Aceptación de la Atención de Salud , Enema/métodos , Resultado del TratamientoRESUMEN
Patients with pancreatic insufficient cystic fibrosis rarely develop acute pancreatitis due to insufficient acinar reserve. We describe a series of five patients under the age of 18 (range 8-16 years) with pancreatic insufficient cystic fibrosis who developed a phenotype in keeping with acute pancreatitis following initiation of CFTR modulator therapy. This occurred at a median of 30 months following CFTR modulator initiation. 3/5 of these patients also developed pancreatic sufficiency or at least an intermediary pancreas status, indicated by fecal elastases above 100 µg/g. This series highlights a mostly unrecognized potential side effect of this therapy as well as the potential of CFTR modulator therapies to improve exocrine pancreatic function, even in adolescent patients.