Implementación de un panel de genes para el diagnóstico genético de la discinesia ciliar primaria

Baz-Redón, Noelia; Rovira‐Amigo, Sandra; Castillo‐Corullón, Silvia; Roig, María Cols; Antolı́n, Maria; Arumí, Elena García; Torrent‐Vernetta, Alba; Messa, Inés de Mir; Gartner, Sílvia; Serrano, Ignacio Iglesias; Caballero‐Rabasco, María Araceli; Cruz, Oscar A.; Vizmanos-Lamotte, Gerardo; Vicente, Carlos Martín de; Martínez-Colls, María del Mar; Reula, Ana; Escribano, Amparo; Dası́, Francisco; Armengot-Carceller, Miguel; Polverino, Eva; Pieras, Esther Amengual; Amaro-Rodríguez, Rosanel; Garrido-Pontnou, Marta; Tizzano, Eduardo F.; Camats-Tarruella, Núria; Fernández‐Cancio, Mónica; Moreno‐Galdó, Antonio

doi:10.1016/j.arbres.2020.02.010

Cited by 5 publications

(6 citation statements)

References 37 publications

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“…Ciliated respiratory epithelial cells were obtained from the participants by nasal brushing as previously described (3). The material was suspended in RPMI 1640 medium and stored in a water bath preheated to the required temperatures.…”

Section: Ciliary Beat Pattern and Frequencymentioning

confidence: 99%

“…PCD is usually considered to be an autosomal recessive genetic disorder. Homozygous or compound heterozygous mutations in more than 44 genes are known to be causative for PCD (3) and correlate with the ciliary beat pattern (CBP) variations (4). It has been shown that the ultrastructural phenotype has an influence on lung function and body mass index of the patients (5).…”

Section: Introductionmentioning

confidence: 99%

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Comparison of ciliary beat frequencies at different temperatures in young adults

et al. 2020

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RationaleDirect visualisation of ciliary beat pattern (CBP) and ciliary beat frequency (CBF) has been recommended as firstline diagnostic test in patients suspected of having primary ciliary dyskinesia (PCD). However, the test procedure is not yet completely standardised and centers measure the CBF at different temperatures.ObjectivesIt was the aim of the study to compare CBF at different temperatures, to establish normative values, to check for age dependency and to measure the temperature on the nasal mucosa of the participants.MethodsHigh-speed video-microscopy analysis with a SAVA system was used to determine CBP and CBF in the participants.MeasurementsNasal brushings were taken and CBF was measured in randomised order at the three temperatures 25°C, 32°C and 37°C.Main Results100 healthy young adults (74f, 26 m), aged 20,2–31,9 years, were included in the study. We found a highly significant difference among the groups, the median CBF was 7,0 Hz at 25°C, 7,6 Hz at 32°C and 8,0 Hz at 37°C. The maximum time period ex vivo was 65 min and did not differ significantly. However, CBF was significantly higher when the cilia were kept at a higher temperature before the measurements were made. We found no correlation between CBF and the age of the participants. The median nasal mucosal temperature in our study participants was 30,2°C (range 24,7–35,8) comparable to 30,2–34,4°C described in the literature.ConclusionsThe most appropriate temperature to measure CBF is 32°C. In our study the 95% confidence interval for this temperature was 6,3–9,0 Hz.

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Section: Ciliary Beat Pattern and Frequencymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Comparison of ciliary beat frequencies at different temperatures in young adults

et al. 2020

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“…At present, there is no “gold standard” technique for the diagnosis of PCD [ 2 ], and a combination of different tests is required: analysis of the ciliary beat pattern (CBP) and ciliary beat frequency (CBF) [ 3 ] by high-speed video microscopy (HSVM) [ 4 , 5 ], the study of ciliary ultrastructure by transmission electron microscopy (TEM) [ 6 ], and genetic diagnosis [ 7 ]. In addition, nasal nitric oxide (nNO) determination is sometimes used as a screening test [ 8 ], and immunofluorescent labeling of specific proteins of the ciliary structure is emerging as another potential test that still needs to be validated [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

High-Speed Video Microscopy for Primary Ciliary Dyskinesia Diagnosis: A Study of Ciliary Motility Variations with Time and Temperature

et al. 2021

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Primary ciliary dyskinesia (PCD) is a rare disease resulting from a defect in ciliary function that generates, among other issues, chronic upper and lower respiratory tract infections. European guidelines recommend studying ciliary function (pattern (CBP) and frequency (CBF)), together with characteristic clinical symptoms, as one of the definitive tests. However, there is no “gold standard”. The present study aims to use high-speed video microscopy to describe how CBF and CBP alter over time and at different temperatures to reduce the error rate in the diagnosis of PCD. Samples of nasal epithelium from 27 healthy volunteers were studied to assess CBF and CBP at 0, 3, 24, 48, and 72 h, at room temperature and 4 °C. It was observed that CBF increased while CBP became dyskinetic, both at room temperature and at 4 °C, as time passed, especially after 3 h. In order to preserve all ciliary function parameters and to perform a reliable analysis to improve the diagnostic process of PCD, analysis should be performed within the first 3 h of sample collection, preferably in reference centers.

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“…Disease-causing mutations in at least 40 genes have already been reported [169]. It is characterized by structural and/or functional alteration in motile cilia, which causes a deficit in the mucociliary clearance of the respiratory secretions [170] leading to chronic respiratory infections and chronic inflammation of the airways. An inefficient inflammatory process increases the number of neutrophils, increasing ROS and RNS, as explained above [171].…”

Section: Primary Ciliary Dyskinesia and Oxidative Stressmentioning

confidence: 99%

Oxidative Stress and Endoplasmic Reticulum Stress in Rare Respiratory Diseases

Magallón

Carrión

Bañuls

et al. 2021

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Several studies have shown that some rare respiratory diseases, such as alpha-1 antitrypsin deficiency (AATD), idiopathic pulmonary fibrosis (IPF), cystic fibrosis (CF), and primary ciliary dyskinesia (PCD) present oxidative stress (OS) and endoplasmic reticulum (ER) stress. Their involvement in these pathologies and the use of antioxidants as therapeutic agents to minimize the effects of OS are discussed in this review.

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Implementación de un panel de genes para el diagnóstico genético de la discinesia ciliar primaria

Cited by 5 publications

References 37 publications

Comparison of ciliary beat frequencies at different temperatures in young adults

Comparison of ciliary beat frequencies at different temperatures in young adults

High-Speed Video Microscopy for Primary Ciliary Dyskinesia Diagnosis: A Study of Ciliary Motility Variations with Time and Temperature

Oxidative Stress and Endoplasmic Reticulum Stress in Rare Respiratory Diseases

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