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Champlain BASE™ (Building Access to Specialists through eConsultation) is a web-based asynchronous electronic communication service that allows primary-care- practitioners (PCPs) to submit \"elective\" clinical questions to a specialist. For adults, PCPs have reported improved access and timeliness to specialist advice, averted face-to-face specialist referrals in up to 40% of cases and high provider satisfaction. To determine whether the expansion of eConsult to a pediatric setting would result in similar measures of improved healthcare system process and high provider acceptance reported in adults. Prospective observational cohort study. Single Canadian tertiary-care academic pediatric hospital (June 2014-16) servicing 1.2 million people. 1. PCPs already using eConsult. 2.Volunteer pediatric specialists provided services in addition to their regular workload. 3.Pediatric patients (< 18 years-old) referred for none-acute care conditions. Specialty service utilization and access, impact on PCP course-of-action and referral-patterns and survey-based provider satisfaction data were collected. 1064 eConsult requests from 367 PCPs were answered by 23 pediatric specialists representing 14 specialty-services. The top three specialties represented were: General Pediatrics 393 cases (36.9%), Orthopedics 162 (15.2%) and Psychiatry 123 (11.6%). Median specialist response time was 0.9 days (range <1 hour-27 days), most consults (63.2%) required <10minutes to complete and 21/21(100%) specialist survey-respondents reported minimal workload burden. For 515/1064(48.4%) referrals, PCPs received advice for a new or additional course of action; 391/1064(36.7%) referrals resulted in an averted face-to-face specialist visit. In 9 specialties with complete data, the median wait-time was significantly less (p<0.001) for an eConsult (1 day, 95%CI:0.9-1.2) compared with a face-to-face referral (132 days; 95%CI:127-136). The majority (>93.3%) of PCPs rated eConsult as very good/excellent value for both patients and themselves. All specialist survey-respondents indicated eConsult should be a continued service. Similar to adults, eConsult improves PCP access and timeliness to elective pediatric specialist advice and influences their care decisions, while reporting high end-user satisfaction. Further study is warranted to assess impact on resource utilization and clinical outcomes.

Background Newborn screening (NBS) for cystic fibrosis (CF) not only identifies infants with a diagnosis of CF, but also those with an uncertain diagnosis of cystic fibrosis (CF), i.e. CF transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS) or CF screen positive inconclusive diagnosis (CFSPID). These infants have an uncertain long-term outcome and it is currently unclear around time of diagnosis, which infants are at higher risk of later fulfilling a CF diagnosis. In this study, we hypothesised that immunoreactive trypsinogen (IRT) levels, used in NBS as a marker of pancreatic disease and function, may reflect the degree of CFTR dysfunction in each individual and therefore would help to identify those with CRMS/CSPID who are later at risk for meeting the criteria of CF. Methods In this longitudinal, prospective study, infants with CRMS/CFSPID and CF were recruited and followed in 9 CF clinics (Canada and Italy). We compared NBS IRT levels between CF and CRMS/CFSPID, and between children with CRMS/CFSPID→CF and CRMS/CFSPID→CRMS/CFSPID during the period of June 2007 to April 2016. Results Ninety eight CRMS/CFSPID and 120 CF subjects were enrolled. During the study period, 14 (14.3%) CRMS/CFSPID subjects fulfilled the diagnostic criteria for CF (CRMS/CFSPID→CF), while the diagnosis remained uncertain (CRMS/CFSPID→ CRMS/CFSPID) in 84 (85.7%) subjects. Significantly higher NBS IRT concentrations (ng/ml) were present in CF than CRMS/CFPSID (median (interquartile range): 143.8 (99.8–206.2) vs. 75.0 (61.0–105.9); P  < 0.0001). Infants with CRMS/CFSPID→CF ( n  = 14) had significantly higher NBS IRT concentrations (ng/ml) than CRMS/CFSPID→ CRMS/CFSPID ( n  = 83) (median (interquartile range): 108.9 (72.3–126.8) vs. 73.7(60.0–96.0); P  = 0.02). Conclusions Amongst infants who tested positive on NBS for CF, there is a gradation of elevated NBS IRT concentrations. Infants with CF have higher NBS IRT levels than CRMS/CFPSID, and higher NBS IRT concentrations were present in infants with CRMS/CFSPID→CF than CRMS/CFSPID→ CRMS/CFSPID. NBS IRT concentrations, in concert with other factors, may have the potential to predict the likelihood of CF amongst infants with CRMS/CFSPID.

Storytelling is perennial to the human condition. We all tell stories and we all bear witness to the stories of others. According to narrative scholars, only certain stories are valorized in contemporary culture, while others go unrecognized. The inability to recognize ourselves and identities in contemporary cultural narratives can contribute to the silencing and muting of certain lives and voices. Young people with life-shortening conditions, such as cystic fibrosis (CF) and muscular dystrophy (MD), are rarely afforded the opportunity to have their stories heard and affirmed in contemporary cultural spaces. In this article, we reflect on the methodological process of engaging in a study known as “Telling My Tale,” that is, a storybook study featuring narratives and artwork by young people with CF and MD. Funded by the Social Sciences and Humanities Research Council of Canada, we critically reflect upon the methodological lessons, advances, and innovations we have learned, including theoretical musings, the process of exhibiting some of the artwork in a public art gallery, challenges faced along the way, analytical conundrums, and the role of technology in artistic creation for participants with limited hand function. In so doing, we hope to further methodological and theoretical development and innovation in narrative and artistic traditions to better center the voices, lives, tales, and experiences of young people with life-shortening conditions.

In this study the authors examined Internet-mediated qualitative data collection methods among a sample of children with chronic health conditions. Specifically, focus groups via Internet technology were contrasted to traditional face-to-face focus groups. Internet focus groups consisted of asynchronous text-based chat rooms lasting a total of one week in duration. Participants comprised 23 children with cerebral palsy, spina bifida, or cystic fibrosis, who were assigned to either an Internet or face-to-face focus group. Focus group analysis and follow-up participant interviews identified a range of content outcomes and processes as well as participant experiences and preferences. Findings yielded differences in terms of the volume and nature of online and face-to-face data, and participants' affinity to focus group modality appeared to reflect differences in participant expectations for social engagement and interaction. This study identifies both benefits and limitations of asynchronous, text-based online focus groups. Implications and recommendations are discussed.

Over the last 25 years, it has become clear to pediatric health care providers, that there is an ever-increasing number of youth with chronic medical conditions, both mental and physical, who are surviving their childhood and adolescent years and entering adulthood. For any youth, the transition to adulthood is a developmental phase in which the individual must become more independent, and acquire skills and knowledge appropriate for navigating and obtaining care from the adult health care system. For youth with chronic and complex medical conditions, their family, and the health care system, the transition from pediatric to adult care can be particularly challenging for a wide variety of reasons. While there have been excellent models of transition for certain disease-specific clinics, there is a need for both institution-wide and health system-wide adaptable generic models for facilitating healthy transition. This talk will review the issues, challenges, and approaches relevant to a healthy and appropriate transition to an adult care for youth with specialized health care needs.

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.

Over 400 variants in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) are CF-causing. CFTR modulators target variants to improve lung function, but marked variability in response exists and current therapies do not address all CF-causing variants highlighting unmet needs. Alternative epithelial ion channel/transporters such as SLC26A9 could compensate for CFTR dysfunction, providing therapeutic targets that may benefit all individuals with CF. We investigate the relationship between rs7512462, a marker of SLC26A9 activity, and lung function pre- and post-treatment with CFTR modulators in Canadian and US CF cohorts, in the general population, and in those with chronic obstructive pulmonary disease (COPD). Rs7512462 CC genotype is associated with greater lung function in CF individuals with minimal function variants (for which there are currently no approved therapies; p = 0.008); and for gating (p = 0.033) and p.Phe508del/ p.Phe508del (p = 0.006) genotypes upon treatment with CFTR modulators. In parallel, human nasal epithelia with CC and p.Phe508del/p.Phe508del after Ussing chamber analysis of a combination of approved and experimental modulator treatments show greater CFTR function (p = 0.0022). Beyond CF, rs7512462 is associated with peak expiratory flow in a meta-analysis of the UK Biobank and Spirometa Consortium (p = 2.74 × 10−44) and provides p = 0.0891 in an analysis of COPD case-control status in the UK Biobank defined by spirometry. These findings support SLC26A9 as a therapeutic target to improve lung function for all people with CF and in individuals with other obstructive lung diseases.

Photo: Bruno Schlumberger, The Ottawa Citizen / Dr. [Joe Reisman] of CHEO says hospital staff know well the health consequences of the soaring obesity rate among children, and have developed a program to deal with it. Unfortunately, this is not news to CHEO staff, who have seen firsthand the health consequences of obesity in children, including type 2 diabetes and hypertension, formerly viewed as diseases of adulthood. Experts suggest that children and youths are the ideal candidates for effective long-term prevention and treatment strategies to reduce the burden of this ever-growing epidemic.