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Diagnosis of primary ciliary dyskinesia.

Olm MA, Caldini EG, Mauad T - J Bras Pneumol (2015 May-Jun)

Bottom Line: It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems.We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies.In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.

View Article: PubMed Central - PubMed

Affiliation: Department of Pathology, School of Medicine, University of São Paulo, São Paulo, Brazil.

ABSTRACT
Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies. In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.

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Related in: MedlinePlus

Micrografias eletrônicas de cílios com defeitos ultraestruturais. Em A, ausência de braços externos de dineína (aumento: 65.000×); em B, desarranjo dos microtúbulos (aumento: 30.000×); em C, ausência do par central, com a apresentação 9+0, que costuma se associar com o defeito de transposição 8+2 (aumento: 65.000×); em D, defeito de transposição 8+2 (aumento: 65.000×). Fonte: Departamento de Patologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo (SP) Brasil, 2010.
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f10: Micrografias eletrônicas de cílios com defeitos ultraestruturais. Em A, ausência de braços externos de dineína (aumento: 65.000×); em B, desarranjo dos microtúbulos (aumento: 30.000×); em C, ausência do par central, com a apresentação 9+0, que costuma se associar com o defeito de transposição 8+2 (aumento: 65.000×); em D, defeito de transposição 8+2 (aumento: 65.000×). Fonte: Departamento de Patologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo (SP) Brasil, 2010.


Diagnosis of primary ciliary dyskinesia.

Olm MA, Caldini EG, Mauad T - J Bras Pneumol (2015 May-Jun)

Micrografias eletrônicas de cílios com defeitos ultraestruturais. Em A, ausência de braços externos de dineína (aumento: 65.000×); em B, desarranjo dos microtúbulos (aumento: 30.000×); em C, ausência do par central, com a apresentação 9+0, que costuma se associar com o defeito de transposição 8+2 (aumento: 65.000×); em D, defeito de transposição 8+2 (aumento: 65.000×). Fonte: Departamento de Patologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo (SP) Brasil, 2010.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4541762&req=5

f10: Micrografias eletrônicas de cílios com defeitos ultraestruturais. Em A, ausência de braços externos de dineína (aumento: 65.000×); em B, desarranjo dos microtúbulos (aumento: 30.000×); em C, ausência do par central, com a apresentação 9+0, que costuma se associar com o defeito de transposição 8+2 (aumento: 65.000×); em D, defeito de transposição 8+2 (aumento: 65.000×). Fonte: Departamento de Patologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo (SP) Brasil, 2010.
Bottom Line: It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems.We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies.In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.

View Article: PubMed Central - PubMed

Affiliation: Department of Pathology, School of Medicine, University of São Paulo, São Paulo, Brazil.

ABSTRACT
Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies. In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.

Show MeSH
Related in: MedlinePlus