by Michele Manion | Nov 26, 2019 | Diagnosis, EDUCATION, Genetics
The first thing to know is that there is currently no test for PCD that picks up 100% of cases or that can totally rule PCD out. The second thing to be aware of is that diagnostic practices for PCD vary by country and sometimes even by region within a country. A...
by Billy Anton | Mar 21, 2019 | Diagnosis, EDUCATION, Genetic Testing, Genetics, RESEARCH, Uncategorized
With all the research being done with PCD, it is important for pulmonologists to be aware of the latest findings so as not to use outdated methods for diagnosing and treating PCD. “Rapid Advances in Primary Ciliary Dyskinesia Research: A Brief Update for...
by Billy Anton | Feb 25, 2019 | Diagnosis, EDUCATION, Genetics, RESEARCH
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype Stephanie D. Davis et al. Link to study abstract Understanding and identifying the relationship between genotype (gene mutation) and phenotype (observable clinical...
by Billy Anton | Dec 15, 2018 | EDUCATION, Genetics, RESEARCH
Two new genes were discovered recently, that with specific genetic mutations, produce PCD. The two new genes are LRRC56 and DNAH9. A group of international scientists, Serge Bonnefoy, Christopher Watson, Philippe Bastin, Eamonn Sheridan and colleagues, announced the...
by Michele Manion | Oct 23, 2017 | Diagnosis, Genetic Testing, Genetics
PCD diagnosis continues to be challenging. All current testing options available to aid in PCD diagnosis (biopsy with TEM, nasal nitric oxide measurement, high-speed videomicroscopy, immunofluorescent assay of ciliary proteins) have limitations and do not work in all...
