Association between cystic fibrosis transmembrane regulator genotype and clinical outcomes, glucose homeostasis indices and CF-related diabetes risk in adults with CF.

People living with cystic fibrosis (pwCF) homozygous for F508del present more severe phenotypes. PwCF with compound heterozygous genotypes F508del /A455E and F508del /L206W may have milder cystic fibrosis (CF) phenotypes. We compared F508del homozygotes and common compound heterozygotes (F508del and a second pathogenic variant) in adult patients. Nutritional, pulmonary function and glucose homeostasis indices data were collected from the prospective Montreal CF cohort. Two-hundred and three adults with CF having at least one F508del variant were included. Individuals were divided into subgroups: homozygous F508del/F508del (n=149); F508del/621+1G>T (n=17); F508del/711+1G>T (n=11); F508del/A455E (n=12); and F508del/L206W (n=14). Subgroups with the F508del/L206W and F508del/A455E had a lower proportion with pancreatic exocrine insufficiency (p<0.0001), a higher fat mass (p<0.0001), and lower glucose area under the curve (AUC) (p=0.027). The F508del/L206W subgroup had significantly higher insulin secretion (AUC; p=0.027) and body mass index (p<0.001). Pulmonary function (FEV1) was significantly higher for the F508del/L206W subgroup (p<0.0001). Over a median of 7.37 years, the risk of developing CFRD in 141 patients was similar between groups. PwCF with heterozygous F508del/L206W and F508del/A455E tended to have pancreatic exocrine sufficiency, better nutritional status, improved pulmonary function and better diabetogenic indices, but this does not translate into lower risk of CF-related Diabetes.

Methods for studying medication safety following electronic health record implementation in acute care: a scoping review.

OBJECTIVES: The objective of this scoping review is to map methods used to study medication safety following electronic health record (EHR) implementation. Patterns and methodological gaps can provide insight for future research design. MATERIALS AND METHODS: We used the Joanna Briggs Institute scoping review methodology and a custom data extraction table to summarize the following data: (1) study demographics (year, country, setting); (2) study design, study period, data sources, and measures; (3) analysis strategy; (4) identified limitations or recommendations; (5) quality appraisal; and (6) if a Safety-I or Safety-II perspective was employed. RESULTS: We screened 5879 articles. One hundred and fifteen articles met our inclusion criteria and were assessed for eligibility by full-text review. Twenty-seven articles were eligible for extraction. DISCUSSION AND CONCLUSION: We found little consistency in how medication safety following EHR implementation was studied. Three study designs, 7 study settings, and 10 data sources were used across 27 articles. None of the articles shared the same combination of design, data sources, study periods, and research settings. Outcome measures were neither defined nor measured consistently. It may be difficult for researchers to aggregate and synthesize medication safety findings following EHR implementation research. All studies but one used a Safety-I perspective to study medication safety. We offer a conceptual model to support a more consistent approach to studying medication safety following EHR implementation.

Canadian Cystic Fibrosis-related Diabetes Clinical Practice Survey: Analysis of Current Practices and Gaps in Clinical Care.

OBJECTIVES: Our aim in this study was to identify challenges and gaps in Canadian practices in screening, diagnosis, and treatment of cystic fibrosis-related diabetes (CFRD), with the goal of informing a Canadian-specific guideline for CFRD. METHODS: We conducted an online survey of health-care professionals (97 physicians and 44 allied health professionals) who care for people living with CF (pwCF) and/or CFRD (pwCFRD). RESULTS: Most pediatric centres followed <10 pwCFRD and adult centres followed >10 pwCFRD. Children with CFRD are usually followed at a separate diabetes clinic, whereas adults with CFRD may be followed by respirologists, nurse practitioners, or endocrinologists in a CF clinic or in a separate diabetes clinic. Less than 25% of pwCF had access to an endocrinologist with a special interest or expertise in CFRD. Many centres perform screening oral glucose tolerance testing with fasting and 2-hour time points. Respondents, especially those working with adults, also indicate use of additional tests for screening not currently recommended in CFRD guidelines. Pediatric practitioners tend to only use insulin to manage CFRD, whereas adult practitioners are more likely to use repaglinide as an alternative to insulin. CONCLUSIONS: Access to specialized CFRD care may be a challenge for pwCFRD in Canada. There appears to be wide heterogeneity of CFRD care organization, screening, and treatment among health-care providers caring for pwCF and/or pwCFRD across Canada. Practitioners working with adult pwCF are less likely to adhere to current clinical practice guidelines than practitioners working with children.

Cystic Fibrosis-Related Diabetes: Clinical approach and knowledge gaps.

Cystic Fibrosis-Related Diabetes (CFRD) is a unique type of diabetes mellitus that shares some features with both type 1 and type 2 diabetes. Yet, its distinguishing feature of acute pulmonary complications associated with hyperglycemia and the catabolic metabolism associated with a relative insulin deficiency poses challenges to the application of traditional definitions and treatments for diabetes mellitus. People with CF (pwCF) undergo rigorous annual screening starting at age 10, a process that is challenging for patients and limited by sensitivity, specificity, and reproducibility. As pwCF continue to live longer, over 50% are expected to develop CFRD over their lifetime, including up to 20% of adolescents. Increasing numbers of people with CFRD will make this disease increasingly relevant to diabetes practitioners. Evidence-guided practice in CFRD care is limited by small and short studies. Our current understanding of CFRD may change significantly with the recent introduction of CF Transmembrane Regulator (CFTR) modulator medications. This review will explore current challenges in the diagnosis and management of CFRD, specifically highlighting knowledge gaps in the pathophysiology of CFRD, optimal screening methods, priorities for research and provide guidance with regards to screening, diagnosis, and treatment.

Outcomes of Cystic Fibrosis Screening-Positive Infants With Inconclusive Diagnosis at School Age.

BACKGROUND AND OBJECTIVES: Cystic fibrosis (CF) screen-positive infants with an inconclusive diagnosis (CFSPID) are infants in whom sweat testing and genetic analysis does not resolve a CF diagnosis. Lack of knowledge about the health outcome of these children who require clinical follow-up challenges effective consultation. Early predictive biomarkers to delineate the CF risk would allow a more targeted approach to these children. METHODS: Prospective, longitudinal, multicenter, Canada-wide cohort study of CF positive-screened newborns with 1 to 2 cystic fibrosis transmembrane conductance regulator gene variants, of which at least 1 is not known to be CF-causing and/or a sweat chloride between 30 and 59 mmol/L. These were monitored for conversion to a CF diagnosis, pulmonary, and nutritional outcomes. RESULTS: The mean observation period was 7.7 (95% confidence interval 7.1 to 8.4) years. A CF diagnosis was established for 24 of the 115 children with CFSPID (21%) either because of reinterpretation of the cystic fibrosis transmembrane conductance regulator genotype or because of increase in sweat chloride concentration ≥60 mmol/L. An initial sweat chloride of ≥40 mmol/l predicted conversion to CF on the basis of sweat testing. The 91 remaining children with CFSPID were pancreatic sufficient and showed normal growth until school age. Pulmonary function as well as lung clearance index in a subgroup of children with CFSPID were similar to that of healthy controls. CONCLUSIONS: Children with CFSPID have good nutritional and pulmonary outcomes at school age, but rates of reclassifying the diagnosis are high. The initial sweat chloride test can be used as a biomarker to predict the risk for CF in CFSPID.

The second victim requires more than Medice Cura Te Ipsum.

Burnout has attained epidemic proportions in all reaches of society. Only recently, has its impact in healthcare become a burning platform. Second victim syndrome, a consequence of an unforeseen adverse event, often precipitated by an error, can lead to a post-traumatic stress-like reaction, that is unique to healthcare workers. Often, the second victim suffers in silence, forced to rely on resilience. Peer support has been demonstrated to be beneficial in assisting healthcare workers in recovering from both burnout and second victim syndrome. Institutions and organizations must be more influential and responsive in supporting physicians and other healthcare workers in need.

Recommendations from parents, administrative staff and clinicians to improve paediatric ambulatory appointment scheduling.

BACKGROUND: Stakeholders can provide valuable input to improve scheduling paediatric ambulatory clinic appointments, a complex process that requires effective planning and communication between parents, administrative staff and clinicians. The purpose of our study was to characterize recommendations from parents, administrative staff and clinicians to improve paediatric ambulatory appointment scheduling. METHODS: Conducted between February 2018 and January 2019, this qualitative study was guided by qualitative description. Data collection was completed using focus groups with three stakeholder groups: parents, administrative staff and clinicians. Participants provided recommendations to optimize paediatric ambulatory appointment scheduling at the Stollery Children's Hospital in Edmonton, Alberta, Canada. Focus group data were transcribed verbatim and analysed using manifest inductive content analysis. RESULTS: Forty-six participants (mean age: 42.7; 87% female) participated in 12 focus groups. Parents (n = 11), administrative staff (n = 22) and clinicians (n = 13) made recommendations that were organized into two categories: appointment triaging and arranging. Triaging recommendations were related to appointment availability (e.g. providing alternatives to cancelling clinics with short notice) and waitlist management (e.g. developing clear and consistent policies regarding information flow and communication between clinics and administrative staff). Appointment arranging recommendations referred to booking (e.g. directly involving parents in the booking process), reminders (e.g. using text message reminders) and attendance (e.g. providing parents with a single point of contact who can provide the correct information about late and cancellation policies). Recommendations were similar across stakeholder groups. CONCLUSION: Our findings showed congruent recommendations across stakeholder groups to address challenges with scheduling ambulatory appointments, many of which have the potential to be modified. Experimental research and quality improvement initiatives are needed to determine the feasibility, acceptability and effectiveness of stakeholder recommendations to improve triaging and scheduling paediatric ambulatory appointments.

Pediatric ambulatory appointment scheduling: a qualitative study of stakeholders' perceptions and experiences.

OBJECTIVE: Scheduling ambulatory clinic appointments includes a complex set of factors and diverse stakeholders. Families, administrative staff and clinicians may have varied experiences with scheduling clinic appointments. The objective of our study was to understand stakeholders' perceptions and experiences with scheduling pediatric ambulatory clinic appointments. DESIGN: Guided methodologically by qualitative description, focus groups were conducted separately with three stakeholder groups and analyzed using qualitative content analysis. SETTING: This qualitative study was completed at a children's hospital in Alberta, Canada. PARTICIPANTS: Parents, administrative professionals and clinicians who used the pediatric ambulatory scheduling system regularly to elicit perceptions and experiences about issues and areas where improvements could be made. RESULTS: Across 12 focus groups, parents (n = 11), administrative professionals (n = 23) and clinicians (n = 13) discussed areas for improvement related to the pediatric ambulatory scheduling system. The perceived areas for improvement were grouped into three categories regarding levels of influence: (i) 'intrapersonal': knowledge, skills and behaviors (e.g. insufficient training of administrative professionals); (ii) 'interpersonal': communication processes (e.g. parents not receiving confirmation letters); and (iii) 'institutional': structures and processes (e.g. varying practices and processes across clinics). CONCLUSIONS: Stakeholders provided a rich description of the interrelated factors and processes that influenced the scheduling of pediatric ambulatory clinic appointments. Multilevel, experimental interventions are needed to test whether the findings described herein can enhance the structure and function of pediatric ambulatory appointment scheduling.

A comparison of invasive and noninvasive ventilation in children less than 1 year of age: A long-term follow-up study.

BACKGROUND: We report on the long-term survival of children initiated on invasive and noninvasive positive pressure ventilation (NiPPV) before the age of 1 to assess the safety and efficacy of long-term ventilation at home. METHODS: A chart review was performed of children initiated on long-term home mechanical ventilation (LTHV) before the age of 1 year, at The Hospital for Sick Children (SickKids), Canada, between January 1991 and April 2014. RESULTS: We report on 51 children. Twenty-five children (49%) received NiPPV and 26 (51%) received invasive mechanical ventilation via tracheostomy (IMV). There was one NiPPV initiation between 1991 and 2001, the rest were in subsequent years. Most children had a "musculoskeletal disorder" in the NiPPV cohort, n = 14 (56%) and a "central nervous system" disorder in the IMV cohort, n = 13 (50%). The pCO2 improved with the initiation of NiPPV, P = < 0.0001. Of the 25 subjects initiated on NiPPV, eight (32%) are currently being followed as compared to 22 (84%) in the IMV cohort. Seven (28%) of the NiPPV group were weaned off ventilation as compared to three (11.5%) in the IMV cohort. There were two NiPPV treatment failures. There were more deaths in the NiPPV cohort: eight (32%) versus two (7.6%) in the IMV cohort. Four of the deaths in the NiPPV cohort were in children in whom a palliative approach was taken. None were due to NiPPV technical failure. CONCLUSIONS: Based on this long-term follow-up study, NiPPV use in infants appears to be a viable long-term ventilation strategy.

Respiratory management strategies for Duchenne muscular dystrophy: practice variation amongst Canadian sub-specialists.

PURPOSE: Respiratory management of Duchenne muscular dystrophy (DMD) is not well studied and may vary across centers and practitioners. Our objective was to describe and compare the respiratory management practices of Canadian Pediatric Respirologists and Neuromuscular specialists for children with DMD. METHODS: A web-based survey was sent to all 56 practicing Canadian Pediatric Respirologists and to all 24 members of the Canadian Pediatric Neuromuscular Group (CPNG) who follow children with neuromuscular diseases. The survey included 28 questions about timing and indications for respiratory consultation, sleep disordered breathing (SDB) assessments, and treatments. RESULTS: Thirty eight (68%) pediatric respirologists and 17 (71%) CPNG members responded. Respirologists provide initial consultation after a patient's first admission to hospital with respiratory complications (14/38, 37%) and when symptoms of SDB are present (14/38, 37%). Half of the CPNG members request initial Respirology consultation at the time of DMD diagnosis. Both groups request routine pulmonary function tests. Ninety-six percent of respirologists use maximal inspiratory (MIP) and expiratory pressures (MEP) to assess respiratory muscle strength, whereas 82% of CPNG members additionally use peak cough flow. Assessment for SDB is requested by both groups when pulmonary function is abnormal or patients are symptomatic. Respirologists favor polysomnography, whereas CPNG members use overnight pulse oximetry. Nocturnal non-invasive ventilation and lung volume recruitment (LVR) are used in a minority of patients. CONCLUSIONS: Respirologists and CPNG members provide similar respiratory management of DMD patients, but differ in timing of consultation and choice of tests for pulmonary function and SDB. Canadian practices differ from the American Thoracic Society and Centre for Disease Control guidelines.