Late Breaking Abstract - Comparison of Characteristics Between Patients with Definite Genetic Diagnosis and Patients with Variants of Uncertain Clinical Significance in Primary Ciliary Dyskinesi - Amsterdam 2025

Primary ciliary dyskinesia in focus: mechanisms, markers and multidisciplinary care

Chair(s): Amelia Shoemark, Laura Petrarca

Session type: Poster session

Late Breaking Abstract - Comparison of Characteristics Between Patients with Definite Genetic Diagnosis and Patients with Variants of Uncertain Clinical Significance in Primary Ciliary Dyskinesi

ISIL BILGIÇ

EVENTS HOME

Poster
Abstract

Previous presentation

Next presentation

Session content

Clinical and demographic characteristics of patients diagnosed with Primary Ciliary Dyskinesia with CCDC40 homozygous mutation

Mine Yüksel Kalyoncu

Poster

Abstract

Utilising human cellular models of Primary Ciliary Dyskinesia: A scoping review

Jonathan Ong

Poster

Abstract

Interferon-signaling gene scores as a biomarker for SAVI in patients with interstitial lung disease

Heidi Schaballie

Poster

Abstract

Biomarkers in primary ciliary dyskinesia (PCD): A systematic review

Laura Gardner

Poster

Abstract

Respiratory Function in Primary Ciliary Dyskinesia Patients: The Role of Inhaled Treatment

Manel Jabberi

Poster

Abstract

Impact of microbiological status on clinical and functional characteristics in Primary Ciliary Dyskinesia: the Microsurvey Study

Valentina Agnese Ferraro

Poster

Abstract

Risk factors and outcomes of vitamin D deficiency in paediatric primary ciliary dyskinesia

Nicola Rowbotham

Poster

Abstract

Prevalence and trends in asthma diagnosis within a paediatric Primary Ciliary Dyskinesia cohort.

Natalie Blyth

Poster

Abstract

Genetic background and pulmonary exacerbations in patients with primary ciliary dyskinesia

Pinelopi Anagnostopoulou

Poster

Abstract

Primary ciliary dyskinesia: treat the patient, not their gene!

Kewei Zhang

Poster

Abstract

Accuracy of immunofluorescence testing in the diagnosis of Primary Ciliary Dyskinesia (PCD): a six-year review at a specialist referral center

Mathieu Bottier

Poster

Abstract

Biallelic loss-of-function and novel hypomorphic polo-like kinase 4 (PLK4) variants in primary ciliary dyskinesia (PCD)

Claire L Jackson

Poster

Abstract

Comparison of clinician-defined exacerbation and a modified version of the expert consensus in pulmonary exacerbations in primary ciliary dyskinesia (PCD),a BEAT-PCD collaboration

Kewei Zhang

Poster

Abstract

Move-PCD A longitudinal randomised controlled trial of the effect of a physical activity program on quality of life in children and adults with PCD

Anne Schlegtendal

Poster

Abstract

Barriers and priorities for care for patients with primary ciliary dyskinesia (PCD): BEAT-PCD survey on experts opinions

Bruna Rubbo

Poster

Abstract

Systematic review of artificial intelligence and digital-automated tools to improve screening, diagnosis and characterization of Primary Ciliary Dyskinesia

Panayiotis Kouis

Poster

Abstract

Phenotypic presentation of an RPGR primary ciliary dyskinesia (PCD) cohort

Janice Coles

Poster

Abstract

Multimodal diagnostic evaluation in PCD patients without genetic confirmation

Mathieu Bottier

Poster

Abstract

High reproducibility in assessing ciliary biomarkers for primary ciliary dyskinesia clinical trials

Mathieu Bottier

Poster

Abstract

Late Breaking Abstract - Comparison of Characteristics Between Patients with Definite Genetic Diagnosis and Patients with Variants of Uncertain Clinical Significance in Primary Ciliary Dyskinesi

Isil BilgiÇ

Poster

Abstract

CDN Connection Issue

The ERS Congress 2025, Amsterdam

#{title}