A5024565318- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Genetic and Kidney Cyst Diseases
- Tracheal and airway disorders
- Epigenetics and DNA Methylation
- Pediatric health and respiratory diseases
- Dysphagia Assessment and Management
- Protist diversity and phylogeny
- Microtubule and mitosis dynamics
- Genetic Syndromes and Imprinting
- Neurogenetic and Muscular Disorders Research
- Congenital Diaphragmatic Hernia Studies
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Fetal and Pediatric Neurological Disorders
- Renal and related cancers
- Medical Imaging and Pathology Studies
- Congenital Ear and Nasal Anomalies
- Respiratory viral infections research
- Cancer-related Molecular Pathways
- Congenital Heart Disease Studies
- Pulmonary Hypertension Research and Treatments
- RNA regulation and disease
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
University of North Carolina at Chapel Hill
2016-2025
Lung Institute
2015-2025
Emory University Hospital
2013-2022
American Thoracic Society
2018
Montreal Children's Hospital
2018
Indiana University School of Medicine
2003-2016
University of North Carolina Health Care
2006-2013
National Heart Lung and Blood Institute
2012
Jersey Shore University Medical Center
2012
University of Pittsburgh
2012
Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormalities in structure/function. We hypothesized that the major clinical and biologic phenotypic markers of could be evaluated studying cohort subjects suspected having PCD. Of 110 evaluated, PCD was diagnosed 78 using combination compatible features coupled with tests ultrastructure function. Chronic rhinitis/sinusitis (n = 78; 100%), recurrent otitis media 74; 95%), neonatal respiratory symptoms 57; 73%), situs...
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...
Primary ciliary dyskinesia (PCD) is characterized by recurrent airway infections and randomization of left-right body asymmetry. To date, autosomal recessive mutations have only been identified in a small number patients involving DNAI1 DNAH5, which encode outer dynein arm components.We screened 109 white PCD families originating from Europe North America for presence DNAH5 haplotype analyses and/or sequencing.Haplotype excluded linkage 26 families. In 30 families, we 33 novel (12 nonsense,...
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...
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by recurrent infections of the airways and situs inversus in half affected offspring. The most frequent genetic defects comprise recessive mutations DNAH5 DNAI1, which encode outer dynein arm (ODA) components. Diagnosis PCD usually relies on electron microscopy, technically demanding sometimes difficult to interpret.Using specific antibodies, we determined subcellular localization ODA heavy chains DNAH9...
<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...
High-Resolution CT of Patients with Primary Ciliary DyskinesiaMarcus P. Kennedy1 2, Peadar G. Noone1, Margaret W. Leigh3, Maimoona A. Zariwala1, Susan L. Minnix1, Michael R. Knowles1 and Paul Molina4Audio Available | Share