scholarly journals Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives

2014 ◽  
Vol 3 (2) ◽  
pp. 491-503 ◽  
Author(s):  
Samuel Collins ◽  
Woolf Walker ◽  
Jane Lucas
Keyword(s):  
Genetic Testing ◽  
Primary Ciliary Dyskinesia ◽  
State Of The Art ◽  
Future Perspectives ◽  
Ciliary Dyskinesia

scholarly journals Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective

Diagnostics ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1278
Author(s):  
Michael Glenn O’Connor ◽  
Amjad Horani ◽  
Adam J. Shapiro
Keyword(s):  
Genetic Testing ◽  
North America ◽  
North American ◽  
Primary Ciliary Dyskinesia ◽  
Clinical Phenotype ◽  
The United States ◽  
Diagnostic Process ◽  
The North ◽  
Diagnostic Guideline ◽  
Ciliary Dyskinesia

Primary Ciliary Dyskinesia (PCD) is a rare, under-recognized disease that affects respiratory ciliary function, resulting in chronic oto-sino-pulmonary disease. The PCD clinical phenotype overlaps with other common respiratory conditions and no single diagnostic test detects all forms of PCD. In 2018, PCD experts collaborated with the American Thoracic Society (ATS) to create a clinical diagnostic guideline for patients across North America, specifically considering the local resources and limitations for PCD diagnosis in the United States and Canada. Nasal nitric oxide (nNO) testing is recommended for first-line testing in patients ≥5 years old with a compatible clinical phenotype; however, all low nNO values require confirmation with genetic testing or ciliary electron micrograph (EM) analysis. Furthermore, these guidelines recognize that not all North American patients have access to nNO testing and isolated genetic testing is appropriate in cases with strong clinical PCD phenotypes. For unresolved diagnostic cases, referral to a PCD Foundation accredited center is recommended. The purpose of this narrative review is to provide insight on the North American PCD diagnostic process, to enhance the understanding of and adherence to current guidelines, and to promote collaboration with diagnostic pathways used outside of North America.

scholarly journals Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

2015 ◽  
Vol 51 (2) ◽  
pp. 115-132 ◽  
Author(s):  
Adam J. Shapiro ◽  
Maimoona A. Zariwala ◽  
Thomas Ferkol ◽  
Stephanie D. Davis ◽  
Scott D. Sagel ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
State Of The Art ◽  
Consensus Recommendations ◽  
Ciliary Dyskinesia

scholarly journals Primary ciliary dyskinesia: current state of the art

2007 ◽  
Vol 92 (12) ◽  
pp. 1136-1140 ◽  
Author(s):  
A. Bush ◽  
R. Chodhari ◽  
N. Collins ◽  
F. Copeland ◽  
P. Hall ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
State Of The Art ◽  
Current State ◽  
Ciliary Dyskinesia

scholarly journals Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia

Cells ◽  
2019 ◽  
Vol 8 (12) ◽  
pp. 1614 ◽  
Author(s):  
Martyna Poprzeczko ◽  
Marta Bicka ◽  
Hanan Farahat ◽  
Rafal Bazan ◽  
Anna Osinka ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Primary Ciliary Dyskinesia ◽  
State Of The Art ◽  
Model Organisms ◽  
Phenotypic Changes ◽  
Current State ◽  
Evolutionarily Conserved ◽  
Motile Cilia ◽  
The Impact ◽  
Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a recessive heterogeneous disorder of motile cilia, affecting one per 15,000–30,000 individuals; however, the frequency of this disorder is likely underestimated. Even though more than 40 genes are currently associated with PCD, in the case of approximately 30% of patients, the genetic cause of the manifested PCD symptoms remains unknown. Because motile cilia are highly evolutionarily conserved organelles at both the proteomic and ultrastructural levels, analyses in the unicellular and multicellular model organisms can help not only to identify new proteins essential for cilia motility (and thus identify new putative PCD-causative genes), but also to elucidate the function of the proteins encoded by known PCD-causative genes. Consequently, studies involving model organisms can help us to understand the molecular mechanism(s) behind the phenotypic changes observed in the motile cilia of PCD affected patients. Here, we summarize the current state of the art in the genetics and biology of PCD and emphasize the impact of the studies conducted using model organisms on existing knowledge.

Management of primary ciliary dyskinesia: current practice and future perspectives

2018 ◽  
pp. 282-299 ◽  
Author(s):  
Claudia E. Kuehni ◽  
Myrofora Goutaki ◽  
Bruna Rubbo ◽  
Jane S. Lucas
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Current Practice ◽  
Future Perspectives ◽  
Ciliary Dyskinesia

scholarly journals What do we know about the genetic background of primary ciliary dyskinesia (PCD) and the reproductive approach?

2019 ◽  
Vol 2 (2) ◽  
pp. 57-62
Author(s):  
Sanja Vujisic
Keyword(s):  
Genetic Testing ◽  
Genetic Background ◽  
Primary Ciliary Dyskinesia ◽  
Semen Analysis ◽  
Genetic Disorder ◽  
Blood Draw ◽  
Preparation Methods ◽  
Strict Adherence ◽  
Gradient Density ◽  
Ciliary Dyskinesia

Introduction: Primary ciliary dyskinesia (PCD; MIM 244400) is a heterogeneous autosomal recessive genetic disorder associated with infertility due to impaired sperm motility in men. We describe two such cases and give a literature review on the genetic background and reproductive outcome. Materials and methods: Two primary infertile couples were referred to our clinic. Native semen, analyzed according to the WHO manual (2010), showed that male partners have completely immotile sperm with a negative pentoxifylline test. Sample vitality was compared according to different semen preparation methods (gradient density and washing method only). Genetic testing was done by Whole Exome next-generation Sequencing (WES) analysis. For the IVF/ICSI procedure, semen was prepared using the gradient density method, and prior to the ICSI procedure itself, a hypo-osmotic swelling test (HOST) was done. Results: Semen analysis showed oligoasthenozoospermia in Patient 1 and oligoasthenoteratozoospermia in Patient 2. Blood draw for hormones and karyotype showed no irregularities in either case. Patient 1 was previously diagnosed with PCD, while Patient 2 was not. Parallel vitality testing did not show any differences between the two semen preparation methods in either of the two cases. Genetic testing in Patient 2 showed a pathogenic apparently homozygous CCDC40:c.2440C>T variant in exon 14 of the CCDC40 gene (MIM 613799). Fertilization rate after HOST/ICSI in both patients was 100%, and the final outcome for both patients was the birth of a healthy child. Conclusion: Although PCD has diverse etiology, assisted reproduction techniques such as HOST give these couples a good chance for parenthood. Advances in testing and strict adherence to advised procedures are to be credited for such outcome improvement. Additionally, our recommendation for PCD patients and patients with immotile sperm is to do genetic testing and counselling prior to the IVF/ICSI procedure.

Pulmonary Infection Related to Mimivirus in Patient with Primary Ciliary Dyskinesia

2020 ◽  
Vol 26 (8) ◽  
Author(s):  
Fatemeh Sakhaee ◽  
Farzam Vaziri ◽  
Golnaz Bahramali ◽  
Seyed Davar Siadat ◽  
Abolfazl Fateh
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Pulmonary Infection ◽  
Ciliary Dyskinesia
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