Genetics of Cystic Fibrosis Clinical Implications
Egan ME. Genetics of Cystic Fibrosis Clinical Implications. Clinics In Chest Medicine 2015, 37: 9-16. PMID: 26857764, DOI: 10.1016/j.ccm.2015.11.002.Peer-Reviewed Original ResearchMeSH KeywordsCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorDisease ProgressionDNADNA Mutational AnalysisHumansMutationPhenotypeConceptsCystic fibrosis transmembrane conductance regulator (CFTR) proteinMutant cystic fibrosis transmembrane conductance regulator (CFTR) proteinRegulator proteinMutational classesModifier genesFunctional consequencesCFTR functionCFTR geneRecessive genetic disorderRespiratory phenotypeGenesSpecific CF genotypesAutosomal recessive genetic disorderGenetic disordersCFTR genotypeCystic fibrosisGenotypesGeneticsProteinCF genotypeMutationsPhenotypeNew therapiesVariantsAssociation between serum 25‐hydroxyvitamin D level and pulmonary exacerbations in cystic fibrosis
Vanstone MB, Egan ME, Zhang JH, Carpenter TO. Association between serum 25‐hydroxyvitamin D level and pulmonary exacerbations in cystic fibrosis. Pediatric Pulmonology 2015, 50: 441-446. PMID: 25657016, DOI: 10.1002/ppul.23161.Peer-Reviewed Original ResearchConceptsPulmonary function testsCystic fibrosisPulmonary exacerbationsPediatric patientsD levelsYale-New Haven HospitalPediatric CF patientsVitamin D sufficiencyRetrospective chart reviewVitamin D statusStrongest independent determinantCF care centersPatients ages 5Logistic regression analysisAnnual numberD sufficiencyD statusChart reviewClinic visitsLung functionPulmonary functionAntibiotic therapyFunction testsHospitalization ratesIndependent determinants