Publications by authors named "G Thouvenin"
Article Synopsis
- * Data were collected from 408 PCD patients across 12 countries, focusing on their lung function and the presence of common respiratory pathogens, with a significant finding that those with certain pathogens had lower lung function scores.
- * The results indicated that certain pathogens were strongly associated with decreased lung function, particularly in adults, highlighting the need for early eradication strategies and timely treatment of infections in PCD patients.
Article Synopsis
- - Primary ciliary dyskinesia (PCD) is a rare condition linked to dysfunctional cilia, primarily affecting males, but the study investigates the effects of X chromosome inactivation (XCI) in their healthy mothers who carry the mutation.
- - The analysis of six mothers revealed varying degrees of respiratory symptoms that correlated with their XCI patterns and the presence of normal ciliated cells in their airways.
- - The findings suggest that identifying female carriers of PCD mutations is essential, especially if they have mild respiratory issues, and highlight that having a sufficient proportion of normal ciliated cells can prevent severe symptoms, indicating potential for gene therapy.
Article Synopsis
- SAVI is a rare genetic disease caused by STING1 mutation, marked by fever and severe respiratory issues like lung disease and bleeding.
- About 80% of SAVI patients experience respiratory involvement, which can lead to serious complications, including the need for lung transplants.
- The study discusses three patients managed with ruxolitinib (a targeted therapy) before their lung transplants, highlighting their post-transplant complications and outcomes.
Background: Most of the studies on cystic fibrosis (CF) focused on SARS-CoV-2 prevalence and suggested a low incidence of infection in this population. We aimed to assess the impact of the pandemic and related lockdown measures implemented in May 2020 in response to the first wave of SARS-CoV-2 infection on healthcare access, health, and behavior in CF patients.
Methods: A national questionnaire opened online from May 15th, 2020 to June 11, 2020 was completed by 751 CF-patients, aged 14 years and over.