Publications by authors named "N Stremler"
Purpose: The aim of the study was to analyze the characteristics of otherwise healthy children with obstructive sleep apnea (OSA; OSA-I) and children with OSA and non-syndromic obesity (OSA-II) treated with long term continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in 2019 in France.
Methods: Data were collected from a national survey on paediatric home noninvasive ventilatory support. CPAP/NIV initiation criteria and duration, age at CPAP/NIV initiation, equipment used and CPAP/NIV settings, and objective compliance were analyzed.
Article Synopsis
- A study on the pharmacokinetics of lumacaftor/ivacaftor in children with cystic fibrosis (CF) highlights the importance of optimizing treatment based on individual differences.
- Factors like body weight and liver function were found to significantly affect drug levels in patients, showing that each child may process the medication differently.
- The research suggests that personalized dose adjustments and therapeutic drug monitoring could enhance treatment effectiveness in this vulnerable population.
Background: Most periventricular nodular heterotopias (PNHs) are associated with a mutation in the filamin A (FLNA) gene in Xq28. This condition is associated with cardiovascular malformations, connective tissue abnormalities, epilepsy, and intellectual deficiency of varying severity.
Materials And Methods: We report a new FLNA gene mutation in a male patient associated with PNH and diffuse interstitial lung disease.
Rationale: The use of long-term noninvasive respiratory support is increasing in children along with an extension of indications, in particular in children with central nervous system (CNS) disorders.
Objective: The aim of this study was to describe the characteristics of children with CNS disorders treated with long-term noninvasive respiratory support in France.
Methods: Data were collected from 27 French pediatric university centers through an anonymous questionnaire filled for every child treated with noninvasive ventilatory support ≥3 months on 1st June 2019.
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.