Search results for "Disquinesia ciliar"

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IFT46 Expression in the Nasal Mucosa of Primary Ciliary Dyskinesia Patients: Preliminary Study

2021

Este artículo se encuentra disponible en la siguiente URL: https://journals.sagepub.com/doi/pdf/10.1177/2152656721989288 Background: Primary ciliary dyskinesia (PCD) is characterised by an imbalance in mucociliary clearance leading to chronic respiratory infections. Cilia length is considered to be a contributing factor in cilia movement. Recently, IFT46 protein has been related to cilia length. Therefore, this work aims to study IFT46 expression in a PCD patients cohort and analyse its relationship with cilia length and function, as it was not previously described. Materials and methods: The expression of one intraflagellar transport (IFT46) and two regulating ciliary architecture (FOXJ1 a…

lcsh:Immunologic diseases. Allergy0301 basic medicinePathologymedicine.medical_specialtyMucociliary clearanceCiliary dyskinesiaprimary ciliary dyskinesiaMucous membrane of noseCiliopathies03 medical and health sciences0302 clinical medicineKartagener's syndrome - Genetic aspects.Ciliogenesisotorhinolaryngologic diseasesmedicineImmunology and AllergyAparato respiratorio - Enfermedades.Original Research ArticleOtorrinolaringología.Respiratory systemPrimary ciliary dyskinesiaDisquinesia ciliar Síndrome de - Aspectos genéticos.IFT46business.industryCiliumRespiratory organs - Diseases.Kartagener Síndrome de - Aspectos genéticos.respiratory systemlcsh:OtorhinolaryngologyChronic diseases.medicine.diseaselcsh:RF1-547Otolaryngology.Enfermedades crónicas.030104 developmental biology030228 respiratory systemOtorhinolaryngologyPrimary ciliary dyskinesia - Genetic aspects.cilia lengthciliopathieslcsh:RC581-607businessciliogenesisAllergy & Rhinology
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High-Speed Video Microscopy for Primary Ciliary Dyskinesia Diagnosis: A Study of Ciliary Motility Variations with Time and Temperature

2021

Este artículo se encuentra disponible en la siguiente URL: https://www.mdpi.com/2075-4418/11/7/1301 Este artículo de investigación pertenece al número especial "Progress in Diagnosing and Managing Primary Ciliary Dyskinesia". 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…

medicine.medical_specialtyMedicine (General)Kartagener's syndrome - Diagnosis.Respiratory organs - Diseases in children.Clinical BiochemistryAparato respiratorio - Enfermedades en los niños.Video microscopyArticlehigh-speed video microscopy (HSVM)03 medical and health sciences0302 clinical medicineR5-920ciliary beat frequency (CBF)Microscopia.OphthalmologyMicroscopy.MicroscopymedicinePediatric otolaryngology.030212 general & internal medicinePrimary ciliary dyskinesiaDisquinesia ciliar Síndrome de - Diagnóstico.primary ciliary dyskinesia (PCD)business.industryPrimary ciliary dyskinesia - Diagnosis.Enfermedades crónicas en los niños.Otorrinolaringología pediátrica.Gold standard (test)Ciliary motilitymedicine.diseaseNasal epitheliumChronic diseases in children.ciliary beat pattern (CBP)High speed video030228 respiratory systemKartagener Síndrome de - Diagnóstico.Sample collectionbusiness
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