Sharon Dell
A5012209803- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Asthma and respiratory diseases
- Tracheal and airway disorders
- Pediatric health and respiratory diseases
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Air Quality and Health Impacts
- Respiratory and Cough-Related Research
- Genetic and Kidney Cyst Diseases
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Noise Effects and Management
- Congenital Diaphragmatic Hernia Studies
- Dysphagia Assessment and Management
- Respiratory viral infections research
- Inhalation and Respiratory Drug Delivery
- Childhood Cancer Survivors' Quality of Life
- Child and Adolescent Health
- Medical Imaging and Pathology Studies
- Child Nutrition and Feeding Issues
- Climate Change and Health Impacts
- Family and Disability Support Research
- Pharmaceutical studies and practices
- Delphi Technique in Research
- School Health and Nursing Education
- Respiratory Support and Mechanisms
SickKids Foundation
2015-2025
British Columbia Children's Hospital
2021-2025
University of British Columbia
2020-2025
Hospital for Sick Children
2014-2024
Institute for Clinical Evaluative Sciences
2014-2024
Public Health Ontario
2018-2024
Sorbonne Université
2023
Hôpital Armand-Trousseau
2023
University of Toronto
2013-2022
Institute of Cancer Research
2021
The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex and expensive, tests. In many cases, however, the remains difficult despite array sophisticated diagnostic There no "gold standard" reference test. Hence, a Task Force supported by European Respiratory Society has developed this guideline to provide evidence-based recommendations on testing, especially in light new developments such tests, need for robust diagnoses patients who might enter randomised...
PurposeGenetic testing is an integral diagnostic component of pediatric medicine. Standard care often a time-consuming stepwise approach involving chromosomal microarray analysis and targeted gene sequencing panels, which can be costly inconclusive. Whole-genome (WGS) provides comprehensive platform that has the potential to streamline genetic assessments, but there are limited comparative data guide its clinical use.MethodsWe prospectively recruited 103 patients from non-genetic...
Considerable confusion exists regarding nomenclature, classification, and management of pediatric diffuse lung diseases due to the relative rarity differences in spectrum disease between adults young children.
Primary ciliary dyskinesia (PCD) is a recessive genetic disorder that characterized by sinopulmonary disease and reflects abnormal structure function. Situs inversus totalis occurs in approximately 50% of PCD patients (Kartagener's syndrome PCD), there are few reports with heterotaxy (situs ambiguus), such as cardiovascular anomalies. Advances diagnosis PCD, testing, allow the systematic investigation this association.The prevalence heterotaxic defects was determined 337 retrospective review...
BACKGROUND: In 2010, the Canadian Thoracic Society (CTS) published a Consensus Summary for diagnosis and management of asthma in children six years age older, adults, including an updated Asthma Management Continuum. The CTS Clinical Assembly subsequently began formal clinical practice guideline update process, focusing, this first iteration, on topics controversy and/or gaps previous guidelines. METHODS: Four questions were identified as focus guideline: role noninvasive measurements airway...
Rationale: Several studies suggest that nasal nitric oxide (nNO) measurement could be a test for primary ciliary dyskinesia (PCD), but the procedure and interpretation have not been standardized.Objectives: To use standard protocol measuring nNO to establish disease-specific cutoff value at one site, then validate six other sites.Methods: At lead was prospectively measured in individuals later confirmed PCD by ultrastructural defects (n = 143) or DNAH11 mutations 6); 78 healthy 146 disease...
Rationale: The relationship between clinical phenotype of childhood primary ciliary dyskinesia (PCD) and ultrastructural defects genotype is poorly defined.Objectives: To delineate features PCD their associations with genotype.Methods: A total 118 participants younger than 19 years old were evaluated prospectively at six centers in North America using standardized procedures for diagnostic testing, spirometry, chest computed tomography, respiratory cultures, phenotyping.Measurements Main...
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia, but the genetic cause not defined for all patients with PCD.To identify disease-causing mutations in novel genes, we performed exome sequencing, follow-up characterization, mutation scanning, and genotype-phenotype studies PCD.Whole-exome sequencing was using NimbleGen capture Illumina HiSeq sequencing. Sanger-based used validation, segregation analysis.We on an affected sib-pair normal...
Rationale: Primary ciliary dyskinesia (PCD), a genetically heterogeneous, recessive disorder of motile cilia, is associated with distinct clinical features. Diagnostic tests, including ultrastructural analysis nasal nitric oxide measurements, and molecular testing for mutations in PCD genes, have inherent limitations.Objectives: To define statistically valid combination systematically defined features that strongly associates children adolescents.Methods: Investigators at seven North...
<h3>Rationale</h3> Primary ciliary dyskinesia (PCD) is an autosomal recessive, genetically heterogeneous disorder characterised by oto-sino-pulmonary disease and situs abnormalities (Kartagener syndrome) due to abnormal structure and/or function of cilia. Most patients currently recognised have PCD ultrastructural defects cilia; however, some clinical manifestations low levels nasal nitric oxide, but normal ultrastructure, including a few with biallelic mutations in dynein axonemal heavy...
BACKGROUND/OBJECTIVE: To integrate new evidence into the Canadian Asthma Management Continuum diagram, encompassing both pediatric and adult asthma. METHODS: The Thoracic Society Committee members, comprised of experts in respirology, allergy immunology, emergency medicine, general pediatrics, family pharmacoepidemiology evidence‐based updated continuum based primarily on 2008 Global Initiative for guidelines, performed a focused review literature pertaining to key aspects asthma diagnosis...
In primary ciliary dyskinesia, factors leading to disease heterogeneity are poorly understood.
BACKGROUND AND OBJECTIVE: Primary ciliary dyskinesia (PCD) is a rare inherited disease affecting motile cilia lining the respiratory tract. Despite neonatal distress as an early feature, diagnosis typically delayed until late childhood. Our objective was to identify characteristics that differentiate PCD from common causes of term distress. METHODS: This case-control study. Patients with born after 1994 attending regional clinic who had history (n = 46) were included. Controls 46), neonates...