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Article
Open AccessIs there value in using physician billing claims along with other administrative health care data to document the burden of adolescent injury? An exploratory investigation with comparison to self-reports in Ontario, Canada
Administrative health care databases may be particularly useful for injury surveillance, given that they are population-based, readily available, and relatively complete. Surveillance based on administrative d...
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Article
Open AccessSocioeconomic status and non-fatal injuries among Canadian adolescents: variations across SES and injury measures
While research to date has consistently demonstrated that socioeconomic status (SES) is inversely associated with injury mortality in both children and adults, findings have been less consistent for non-fatal ...
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Article
Newborn Blood Spot Screening in Four Countries: Stakeholder Involvement
While newborn blood spot screening has historically been viewed as a public health success, the potential harms and benefits are more finely balanced for new conditions being considered for program expansion. ...
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Article
Open AccessThe first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario
Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a disorder of mitochondrial fatty acid oxidation and is one of the most common inborn errors of metabolism. Identification of MCADD via newborn screeni...
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Article
Newborn screening education on the internet: a content analysis of North American newborn screening program websites
The Internet is a potentially important medium for communication about public health programs including newborn screening. This study explores whether the information available on official newborn screening pr...
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Article
Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians
There is little robust empirical evidence on which to base treatment recommendations for fatty acid oxidation disorders. While consensus guidelines are important, understanding areas where there is a lack of c...
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Article
Metabolomics of prematurity: analysis of patterns of amino acids, enzymes, and endocrine markers by categories of gestational age
Prematurity may influence the levels of amino acids, enzymes, and endocrine markers obtained through newborn screening. Identifying which analytes are the most affected by degree of prematurity could provide i...
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Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada
Introduction: Nearly all children in Canada with an inherited metabolic disease (IMD) are treated at one of the country’s Hereditary Metabolic Disease Treatment Centres. We sought to understand the...
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Article
Open AccessSco** review of patient- and family-oriented outcomes and measures for chronic pediatric disease
Improvements in health care for children with chronic diseases must be informed by research that emphasizes outcomes of importance to patients and families. To support a program of research in the field of rar...
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Article
Education and Parental Involvement in Decision-Making About Newborn Screening: Understanding Goals to Clarify Content
A challenge in designing effective education for parents about newborn screening (NBS) has been uncertainty about appropriate content. Arguing that the goals of education may be usefully tied to parental decis...
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Article
Open AccessChild and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups
Patient-centered health care for children with inborn errors of metabolism (IEM) and their families is important and requires an understanding of patient experiences, needs, and priorities. IEM-specific patien...
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Open AccessThe health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study
There is no consensus in the literature regarding the impact of false positive newborn screening results on early health care utilization patterns. We evaluated the impact of false positive newborn screening r...
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Open AccessAttitudes to incorporating genomic risk assessments into population screening programs: the importance of purpose, context and deliberation
The use of an overall risk assessment based on genomic information is consistent with precision medicine. Despite the enthusiasm, there is a need for public engagement on the appropriate use of such emerging t...
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Article
Open AccessThe use of relative incidence ratios in self-controlled case series studies: an overview
The self-controlled case series (SCCS) is a useful design for investigating associations between outcomes and transient exposures. The SCCS design controls for all fixed covariates, but effect modification can...
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Article
Open AccessExperiences of caregivers of children with inherited metabolic diseases: a qualitative study
We sought to understand the experiences of parents/caregivers of children with inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and their families. We investigated their...
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Article
Open AccessEstablishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys
Inherited metabolic diseases (IMD) are a large group of rare single-gene disorders that are typically diagnosed early in life. There are important evidence gaps related to the comparative effectiveness of ther...
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Article
Open AccessUsing newborn screening analytes to identify cases of neonatal sepsis
Neonatal sepsis is associated with high mortality and morbidity, yet challenges with available diagnostic approaches can lead to delays in therapy. Our study assessed whether newborn screening analytes could b...
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Open AccessUsing a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases
For many rare diseases, strong analytic study designs for evaluating the efficacy and effectiveness of interventions are challenging to implement because of small, geographically dispersed patient populations ...
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Article
Open AccessAttitudes of undergraduate university women towards HPV vaccination: a cross-sectional study in Ottawa, Canada
Persistent infection with certain subtypes of human papillomavirus (HPV) is a necessary cause of cervical cancer. Although two prophylactic vaccines have been licensed in Canada against cancerous subtypes of H...
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Open AccessNutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices
Phenylalanine hydroxylase (PAH) deficiency is one of 31 targeted inherited metabolic diseases (IMD) for the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Early diagnosis and initiation of tr...
