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Understanding Primary Ciliary Dyskinesia: Experience From a Mediterranean Diagnostic Reference Centre

Background: Due to the lack of a gold standard diagnostic test, reference centres with experienced personnel and costly procedures are needed for primary ciliary dyskinesia (PCD) diagnostics. Diagnostic flowcharts always start with clinical symptoms. Therefore, the aim of this work is to define diff...

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Autores principales: Armengot-Carceller, Miguel, Reula, Ana, Mata-Roig, Manuel, Pérez-Panadés, Jordi, Milian-Medina, Lara, Carda-Batalla, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141270/
https://www.ncbi.nlm.nih.gov/pubmed/32188167
http://dx.doi.org/10.3390/jcm9030810
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author Armengot-Carceller, Miguel
Reula, Ana
Mata-Roig, Manuel
Pérez-Panadés, Jordi
Milian-Medina, Lara
Carda-Batalla, Carmen
author_facet Armengot-Carceller, Miguel
Reula, Ana
Mata-Roig, Manuel
Pérez-Panadés, Jordi
Milian-Medina, Lara
Carda-Batalla, Carmen
author_sort Armengot-Carceller, Miguel
collection PubMed
description Background: Due to the lack of a gold standard diagnostic test, reference centres with experienced personnel and costly procedures are needed for primary ciliary dyskinesia (PCD) diagnostics. Diagnostic flowcharts always start with clinical symptoms. Therefore, the aim of this work is to define differential clinical criteria so that only patients clinically compatible with PCD are referred to reference centres. Materials and methods: 18 variables from 476 Mediterranean patients with clinically suspicious PCD were collected. After analysing cilia function and ultrastructure, 89 individuals were diagnosed with PCD and 387 had a negative diagnosis. Simple logistic regression analysis, considering PCD as a dependent variable and the others as independent variables, was done. In order to define the variables that best explain PCD, a step-wise logistic regression model was defined. Aiming to classify individuals as PCD or PCD-like patients, based on variables included in the study, a classification and regression tree (CART) was designed. Results and conclusions: Simple logistic regression analysis shows statistically significant association between age at the beginning of their symptomatology, periodicity, fertility, situs inversus, recurrent otitis, atelectasis, bronchiectasis, chronic productive cough, rhinorrea, rhinusinusitis and recurrent pneumonias, and PCD. The step-wise logistic regression model selected situs inversus, atelectasis, rhinorrea, chronic productive cough, bronchiectasis, recurrent pneumonias, and otitis as PCD predictive variables (82% sensitivity, 88% specificity, and 0.92 Area Under the Curve (AUC)). A decision tree was designed in order to classify new individuals based on pansinusitis, situs inversus, periodicity, rhinorrea, bronchiectasis, and chronic wet cough.
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spelling pubmed-71412702020-04-10 Understanding Primary Ciliary Dyskinesia: Experience From a Mediterranean Diagnostic Reference Centre Armengot-Carceller, Miguel Reula, Ana Mata-Roig, Manuel Pérez-Panadés, Jordi Milian-Medina, Lara Carda-Batalla, Carmen J Clin Med Article Background: Due to the lack of a gold standard diagnostic test, reference centres with experienced personnel and costly procedures are needed for primary ciliary dyskinesia (PCD) diagnostics. Diagnostic flowcharts always start with clinical symptoms. Therefore, the aim of this work is to define differential clinical criteria so that only patients clinically compatible with PCD are referred to reference centres. Materials and methods: 18 variables from 476 Mediterranean patients with clinically suspicious PCD were collected. After analysing cilia function and ultrastructure, 89 individuals were diagnosed with PCD and 387 had a negative diagnosis. Simple logistic regression analysis, considering PCD as a dependent variable and the others as independent variables, was done. In order to define the variables that best explain PCD, a step-wise logistic regression model was defined. Aiming to classify individuals as PCD or PCD-like patients, based on variables included in the study, a classification and regression tree (CART) was designed. Results and conclusions: Simple logistic regression analysis shows statistically significant association between age at the beginning of their symptomatology, periodicity, fertility, situs inversus, recurrent otitis, atelectasis, bronchiectasis, chronic productive cough, rhinorrea, rhinusinusitis and recurrent pneumonias, and PCD. The step-wise logistic regression model selected situs inversus, atelectasis, rhinorrea, chronic productive cough, bronchiectasis, recurrent pneumonias, and otitis as PCD predictive variables (82% sensitivity, 88% specificity, and 0.92 Area Under the Curve (AUC)). A decision tree was designed in order to classify new individuals based on pansinusitis, situs inversus, periodicity, rhinorrea, bronchiectasis, and chronic wet cough. MDPI 2020-03-16 /pmc/articles/PMC7141270/ /pubmed/32188167 http://dx.doi.org/10.3390/jcm9030810 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Armengot-Carceller, Miguel
Reula, Ana
Mata-Roig, Manuel
Pérez-Panadés, Jordi
Milian-Medina, Lara
Carda-Batalla, Carmen
Understanding Primary Ciliary Dyskinesia: Experience From a Mediterranean Diagnostic Reference Centre
title Understanding Primary Ciliary Dyskinesia: Experience From a Mediterranean Diagnostic Reference Centre
title_full Understanding Primary Ciliary Dyskinesia: Experience From a Mediterranean Diagnostic Reference Centre
title_fullStr Understanding Primary Ciliary Dyskinesia: Experience From a Mediterranean Diagnostic Reference Centre
title_full_unstemmed Understanding Primary Ciliary Dyskinesia: Experience From a Mediterranean Diagnostic Reference Centre
title_short Understanding Primary Ciliary Dyskinesia: Experience From a Mediterranean Diagnostic Reference Centre
title_sort understanding primary ciliary dyskinesia: experience from a mediterranean diagnostic reference centre
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141270/
https://www.ncbi.nlm.nih.gov/pubmed/32188167
http://dx.doi.org/10.3390/jcm9030810
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