A5036978097- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Tracheal and airway disorders
- Pediatric health and respiratory diseases
- Dysphagia Assessment and Management
- Respiratory viral infections research
- Congenital Diaphragmatic Hernia Studies
- Ultrasound in Clinical Applications
- Genetic and Kidney Cyst Diseases
- Congenital Heart Disease Studies
- Airway Management and Intubation Techniques
- Neurogenetic and Muscular Disorders Research
- Childhood Cancer Survivors' Quality of Life
- Congenital Ear and Nasal Anomalies
- Radiology practices and education
- Delphi Technique in Research
- Phonocardiography and Auscultation Techniques
- Immunodeficiency and Autoimmune Disorders
- Child Nutrition and Feeding Issues
- Intestinal Malrotation and Obstruction Disorders
- Family and Disability Support Research
- Asthma and respiratory diseases
- T-cell and B-cell Immunology
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Genetics and Neurodevelopmental Disorders
McGill University Health Centre
2015-2025
McGill University
2012-2024
Montreal Children's Hospital
2015-2024
American Thoracic Society
2018
Pediatrics and Genetics
2014-2016
University of North Carolina at Chapel Hill
2009-2015
University of Miami
2004
Shadyside Hospital
1993-1996
University of Pittsburgh
1996
Columbia University
1977
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...
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...
In primary ciliary dyskinesia, factors leading to disease heterogeneity are poorly understood.
Nasal nitric oxide concentrations are extremely low in primary ciliary dyskinesia (PCD), and measurement of this nasal gas is recommended as a PCD diagnostic test cooperative patients aged 5 years older. However, measurements must be performed with chemiluminescence analyzers using standardized protocol to ensure proper results, because values can influenced by various internal external factors. Repeat testing on separate visits required that persistent consistent PCD. This technical paper...
Primary ciliary dyskinesia (PCD) is a rare, genetic disease characterized by dysfunctional motile cilia and abnormal mucociliary clearance, resulting in chronic sino-oto-pulmonary disease, neonatal respiratory distress, subfertility, organ laterality defects. Over the past 2 decades, research international collaborations have led to an improved understanding of prevalence, classic variable phenotypes, novel diagnostics, genotype-phenotype correlations, long term morbidity, innovative...
Objective Characterise lung ultrasound (LUS) findings, diagnostic accuracy and agreement between novice expert interpretations in young children with respiratory tract infections wheeze. Methods Prospective cross-sectional study a paediatric ED. Patients ≤2 years infection wheeze at triage were recruited unless severe distress. Prior to clinical management, sonologist performed the LUS using six-zone scanning protocol. The treating physician remained blinded findings; final diagnoses...
<b>ERS and ATS guidelines for PCD diagnosis present different recommendations. Authors from both clarify similarities, differences steps required to develop an internationally agreed pathway. TEM or genotyping confirm a of PCD.</b>http://bit.ly/2SR7GWm
Primary ciliary dyskinesia (PCD) is a rare but underdiagnosed disorder that affects motile cilia function throughout the body. With increasing prevalence through ongoing genetic discovery, PCD underlies disease process in significant number of patients with chronic suppurative lung and bronchiectasis when properly investigated using current diagnostic standards. Classic symptoms include rhinosinusitis otitis, organ laterality defects, infertility, year-round productive cough, recurrent...
This project aims to prospectively and objectively assess otolaryngological manifestations quality of life children with primary ciliary dyskinesia (PCD) compare these findings healthy pediatric controls.Cross-sectional.Two high-volume PCD specialty centers.Standardized clinical assessment; Sino-Nasal Outcome Test 22 (SNOT-22); Hearing Environment Reflection Quality Life (HEAR-QL); Reflux Symptom Index (RSI); standardized physical examination the sinonasal, laryngeal, otological systems;...
Primary ciliary dyskinesia (PCD) is a genetic disorder causing motile dysfunction primarily affecting the respiratory and reproductive systems. However, impact of PCD on central nervous system remains poorly understood. Rodent models exhibit marked hydrocephalus leading to early animal mortality, however, most humans with do not develop for unknown reasons. We hypothesized that patients sub-clinical ventriculomegaly related ependymal dysfunction. demonstrated highly specific expression...
Gene genealogies represent the ancestry of a sample and are often encoded as ancestral recombination graphs (ARG). It has recently become possible to infer these gene from sequencing or genotyping data use them for evolutionary statistical genetics. Unfortunately, inferred can be noisy subject biases, making their applications more challenging. This project aims study application ARG methods systematically impute trace transmission all disease variants in founder populations where...
Bronchopulmonary dysplasia (BPD) is a common long-term complication in premature newborns requiring ventilatory support and the most cause of chronic diffuse lung disease this population. We present clinical course newborn with complicated neonatal respiratory that was initially thought to be related BPD, but it did not respond typical therapies for condition. Due findings periventricular nodular heterotopia, diagnosis filamin A gene mutation eventually made, which explained pathology...