RESUMEN
PURPOSE: Cystic fibrosis (CF), caused by pathogenic variants in the CF transmembrane conductance regulator (CFTR), affects multiple organs including the exocrine pancreas, which is a causal contributor to cystic fibrosis-related diabetes (CFRD). Untreated CFRD causes increased CF-related mortality whereas early detection can improve outcomes. METHODS: Using genetic and easily accessible clinical measures available at birth, we constructed a CFRD prediction model using the Canadian CF Gene Modifier Study (CGS; n = 1,958) and validated it in the French CF Gene Modifier Study (FGMS; n = 1,003). We investigated genetic variants shown to associate with CF disease severity across multiple organs in genome-wide association studies. RESULTS: The strongest predictors included sex, CFTR severity score, and several genetic variants including one annotated to PRSS1, which encodes cationic trypsinogen. The final model defined in the CGS shows excellent agreement when validated on the FGMS, and the risk classifier shows slightly better performance at predicting CFRD risk later in life in both studies. CONCLUSION: We demonstrated clinical utility by comparing CFRD prevalence rates between the top 10% of individuals with the highest risk and the bottom 10% with the lowest risk. A web-based application was developed to provide practitioners with patient-specific CFRD risk to guide CFRD monitoring and treatment.
Asunto(s)
Fibrosis Quística , Diabetes Mellitus , Biomarcadores , Canadá , Fibrosis Quística/complicaciones , Fibrosis Quística/diagnóstico , Fibrosis Quística/genética , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Diabetes Mellitus/epidemiología , Diabetes Mellitus/genética , Estudio de Asociación del Genoma Completo , Humanos , Recién NacidoRESUMEN
OBJECTIVE: The objective of our study was to characterize and update the radiologic patterns of pediatric pulmonary blastomycosis, and correlate the radiologic patterns with patient age. MATERIALS AND METHODS: Patients 0-18 years old with pulmonary blastomycosis who underwent chest imaging from 2005 to 2016 were included in this study. The following data were collected: age, sex, clinical information, and imaging findings including presence of extrapulmonary involvement and scarring on follow-up examinations. Concordance between radiography and CT was analyzed. RESULTS: Thirty-six patients (28 boys and eight girls) ranging in age from 3 months to 17 years (mean, 10.5 years) were identified. Consolidation was found in 94.4% of patients and was unilateral in 76.5% of cases and bilateral in 23.5%. Upper (70.6%) and middle (47.1%) lobes were more frequently involved. Air bronchograms were identified in 76.5% of patients with consolidations, masslike consolidation was found in 55.9%, cavitation in 38.2%, and bubbly pattern (i.e., multiple small cavities) in 32.4%. In all patients younger than 5 years, consolidations involved multiple lobes. In 67.6% of patients, consolidations were associated with the following additional pulmonary or pleural abnormalities: pulmonary nodules (50% of patients), diffuse patchy opacification (26.5%), reticulonodular pattern (41.2%), atelectasis (5.9%), pleural effusion (20.6%), and hilar lymphadenopathy (23.5%). Pulmonary scarring was found in 70.4% of patients. Five patients had extrapulmonary involvement. The concordance between radiography and CT was excellent for location and extension of consolidation and diagnosis of cavitation, bubbly pattern, and nodules. CONCLUSION: The most common pattern of lung involvement from pulmonary blastomycosis in our series was a combination of consolidations with bilateral lung nodules and reticulonodular opacification.
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Blastomicosis/diagnóstico por imagen , Enfermedades Pulmonares Fúngicas/diagnóstico por imagen , Blastomicosis/epidemiología , Niño , Preescolar , Femenino , Humanos , Lactante , Enfermedades Pulmonares Fúngicas/epidemiología , Masculino , Manitoba/epidemiología , Radiografía Torácica , Estudios Retrospectivos , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: Most pediatric adenovirus respiratory infections are mild and indistinguishable from other viral causes. However, in a few children, the disease can be severe and result in substantial morbidity. We describe the epidemiologic, clinical, radiologic features and outcome of adenovirus lower respiratory tract infections (LRTI) in Aboriginal and Non-Aboriginal children in Manitoba, Canada during the years 1991 and 2005. METHODS: This was a retrospective study of 193 children who presented to the department of pediatrics at Winnipeg Children's Hospital, Manitoba, Canada with LRTI and had a positive respiratory culture for adenovirus. Patients' demographics, clinical and radiologic features and outcomes were collected. Adenovirus serotype distributions and temporal associations were described. Approximate incidence comparisons (detection rates) of adenovirus LRTI among Aboriginal and Non-Aboriginal children were estimated with 95% confidence intervals. RESULTS: Adenovirus infections occurred throughout the year with clusters in the fall and winter. Serotypes 1 to 3 were the predominant isolates (two thirds of the cases). The infection was more frequent among Canadian Aboriginals, as illustrated in 2004, where its incidence in children 0-4 years old was 5.6 fold higher in Aboriginals (13.51 vs. 2.39 per 10,000, p < 0.000). There were no significant differences in length of hospitalization and use of ventilator assistance between the two groups (p > 0.185 and p > 0.624, respectively) nor across serotypes (p > 0.10 and p > 0.05, respectively). The disease primarily affected infants (median age, 9.5 months). Most children presented with bronchiolitis or pneumonia, with multi-lobar consolidations on the chest x-ray. Chronic (residual) changes were documented in 16 patients, with eight patients showing bronchiectasis on the chest computerized tomography scan. CONCLUSIONS: Adenovirus infection is associated with significant respiratory morbidities, especially in young infants. The infection appears to be more frequent in Aboriginal children. These results justify a careful follow-up for children with adenovirus LRTI.
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Infecciones por Adenovirus Humanos/epidemiología , Infecciones por Adenovirus Humanos/virología , Adenovirus Humanos/aislamiento & purificación , Bronconeumonía/epidemiología , Bronconeumonía/virología , Infecciones por Adenovirus Humanos/patología , Bronconeumonía/patología , Preescolar , Etnicidad , Humanos , Incidencia , Lactante , Pulmón/diagnóstico por imagen , Pulmón/patología , Manitoba/epidemiología , Radiografía , Estudios Retrospectivos , Factores de RiesgoRESUMEN
PURPOSE: Childhood tuberculosis disease is difficult to diagnose and manage and is an under-recognised cause of morbidity and mortality. Reported data from Canada do not focus on childhood tuberculosis or capture key epidemiologic, clinical and microbiologic details. The purpose of this study was to assess demographics, presentation and clinical features of childhood tuberculosis in Canada. METHODS: We conducted prospective surveillance from 2013 to 2016 of over 2700 paediatricians plus vertical tuberculosis programmes for incident tuberculosis disease in children younger than 15 years in Canada using the Canadian Paediatric Surveillance Program (CPSP). RESULTS: In total, 200 cases are included in this study. Tuberculosis was intrathoracic in 183 patients of whom 86% had exclusively intrathoracic involvement. Central nervous system tuberculosis occurred in 16 cases (8%). Fifty-one per cent of cases were hospitalised and 11 (5.5%) admitted to an intensive care unit. Adverse drug reactions were reported in 9% of cases. The source case, most often a first-degree relative, was known in 73% of cases. Fifty-eight per cent of reported cases were Canadian-born Indigenous children. Estimated study rates of reported cases (per 100 000 children per year) were 1.2 overall, 8.6 for all Indigenous children and 54.3 for Inuit children. CONCLUSION: Childhood tuberculosis may cause significant morbidity and resource utilisation. Key geographies and groups have very high incidence rates. Elimination of childhood tuberculosis in Canada will require well-resourced community-based efforts that focus on these highest risk groups.
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Tos/etiología , Fiebre/etiología , Hemoptisis/etiología , Ensayos de Liberación de Interferón gamma/estadística & datos numéricos , Prueba de Tuberculina/estadística & datos numéricos , Tuberculosis/epidemiología , Canadá/epidemiología , Niño , Preescolar , Femenino , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Morbilidad , Estudios Prospectivos , Pérdida de PesoRESUMEN
BACKGROUND: Physical activity is recommended as a component of the cystic fibrosis (CF) treatment regimen. However, to date, there is limited research examining the effects of behavioral counseling interventions aimed at increasing physical activity. The aim of this study was to assess the feasibility of a theoretically informed, parent-mediated counseling intervention in increasing habitual physical activity and quality of life among children and youth with CF. METHODS: Participants were recruited from the pediatric respirology clinic at the Children's Hospital of Winnipeg. Participants ranged in age between 8 and 18 y. A randomized control feasibility trial was implemented, and participants were randomized to the intervention (n = 7) or control group (n = 6). Intervention group participants engaged in 4 counseling sessions to examine the acceptability and feasibility of physical activity counseling in the care of children with CF. The primary outcome was study feasibility, as measured by recruitment, retention, adherence, acceptability, and the frequency of adverse events. Secondary outcomes included physical activity and quality of life, as measured by accelerometry and the Pediatric Quality of Life Inventory. RESULTS: Thirteen subjects completed the study. No adverse events were found in this trial. The intervention was found to be feasible and acceptable with good recruitment, retention, adherence, and acceptability. Positive trends were also reported in terms of increases in physical activity, reductions in time spent being sedentary, and improvements in most dimensions of quality of life pre- to post-intervention. CONCLUSIONS: The findings suggest that counseling is feasible for the CF community. An appropriately powered randomized controlled trial is required in the future to investigate the utility of counseling as a means to enhance quality of life and physical activity behavior.
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Terapia Conductista/métodos , Consejo/métodos , Fibrosis Quística/terapia , Ejercicio Físico/psicología , Acelerometría , Adolescente , Niño , Fibrosis Quística/psicología , Estudios de Factibilidad , Femenino , Humanos , Masculino , Padres , Calidad de Vida , Resultado del TratamientoRESUMEN
Tuberculosis (TB) remains the "great pretender." We report the case of a 10-year-old female, who presented with a mass in the left chest that was suspected initially to be a tumor. This was later confirmed to be tuberculous in nature, with dissemination to the liver. A large granuloma eventually replaced the left lung, leaving her with "tuberculous destroyed lung" (TDL), an extremely rare, life-threatening sequela of the disease. We review the pathophysiology, radiologic findings, and management options, which includes pneumonectomy, for this seldom seen but preventable condition.
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Granuloma/diagnóstico , Tuberculosis Hepática/diagnóstico , Tuberculosis Pulmonar/diagnóstico , Antituberculosos/uso terapéutico , Niño , Quimioterapia Combinada , Etambutol/uso terapéutico , Femenino , Granuloma/diagnóstico por imagen , Granuloma/tratamiento farmacológico , Humanos , Isoniazida/uso terapéutico , Pulmón/diagnóstico por imagen , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/diagnóstico por imagen , Mycobacterium tuberculosis/efectos de los fármacos , Mycobacterium tuberculosis/aislamiento & purificación , Pirazinamida/uso terapéutico , Radiografía , Rifampin/uso terapéutico , Resultado del Tratamiento , Tuberculosis Hepática/tratamiento farmacológico , Tuberculosis Pulmonar/diagnóstico por imagen , Tuberculosis Pulmonar/tratamiento farmacológicoRESUMEN
A case of pulmonary blastomycosis in a pediatric patient diagnosed by gastric lavage is described. Use of gastric lavage averted the need for more invasive diagnostic techniques including bronchoscopy. Further study is required to define the sensitivity of gastric lavage for recovery of Blastomyces dermatitidis from pediatric patients with pulmonary blastomycosis.