Short-term modification of breathprint by Elexacaftor/Tezacaftor/Ivacaftor in a paediatric cohort.

Background: The triple combination Elexacaftor/Tezacaftor/Ivacaftor (ETI) translates into major respiratory improvements in adults; yet current clinical endpoints may prove insufficiently sensitive in young children. We hypothesised that ETI rapidly modifies the lungs' metabolism, resulting in changes in breath composition.

Methods: Eleven children with CF were enrolled in a longitudinal pilot study at the paediatric Necker hospital.

One year of ETI reduces lung bacterial colonisation in adults with cystic fibrosis.

The triple combination elexacaftor-tezacaftor-ivacaftor (ETI) has provided unprecedented clinical benefits for people with cystic fibrosis (pwCF) and drastically transformed the outcome of this disease. We aimed to describe the evolution of lung bacterial colonization in 198 French adult pwCF taking into account the use of concomitantly respiratory treatment. We collected sputum cultures produced during the entire follow-up period starting 3 years before and ending 1 year after ETI initiation.

[Sweat test evolution in cystic fibrosis patients treated with Elexacaftor/Tezacaftor/Ivacaftor].

The chloride (Cl-) sweat test remains the reference test in the diagnosis of cystic fibrosis, allowing direct assessment of CFTR (Cystic Fibrosis Transmembrane conductance Regulator) channel function. Under highly effective modulators such as the combination of Elexacaftor, Tezacaftor and Ivacaftor (ETI), the Cl- level in sweat significantly improves, as shown in our cohort of patients when ETI was introduced. In addition to its role in the diagnosis of the disease, the sweat test is also important for individual clinical trials (n-of-1) in patients not eligible for ETI and for newborn screening for cystic fibrosis.

[Sodium depletion assessed by the urinary sodium/creatinine ratio in monitoring cystic fibrosis patients].

As a result of excessive salt loss, cystic fibrosis patients are at risk of dehydration, especially in hot weather. The urinary sodium/creatinine ratio is an easy and noninvasive tool for assessing whether dietary salt intake is adequate, whatever the patient's age. Recently, new reference values have been established, adapted to the patient's age.

Commercially available tests for determining cefiderocol susceptibility display variable performance in the Achromobacter genus.

Background: Cefiderocol is a siderophore-conjugated cephalosporin increasingly used in the management of Achromobacter infections. Testing for cefiderocol susceptibility is challenging with distinct recommendations depending on the pathogens.

Objectives: We evaluated the performance of commercial tests for testing cefiderocol susceptibility in the Achromobacter genus and reviewed the literature.

The expanded French compassionate programme for elexacaftor-tezacaftor-ivacaftor use in people with cystic fibrosis without a F508del CFTR variant: a real-world study.

Background: Elexacaftor-tezacaftor-ivacaftor has been approved in Europe for people with cystic fibrosis with at least one F508del CFTR variant. Additionally, it is approved by the US Food and Drug Administration (FDA) for people with cystic fibrosis with at least one of 177 rare variants. The aims of this study were to describe the clinical response to elexacaftor-tezacaftor-ivacaftor for people with cystic fibrosis without a F508del CFTR variant in France and to determine CFTR variant responsiveness to elexacaftor-tezacaftor-ivacaftor based on the observed clinical response.

Cefiderocol susceptibility of Achromobacter spp.: study of an accurately identified collection of 230 strains.

Background: Achromobacter spp. are opportunistic pathogens, mostly infecting immunocompromised patients and patients with cystic fibrosis (CF) and considered as difficult-to-treat pathogens due to both intrinsic resistance and the possibility of acquired antimicrobial resistance. Species identification remains challenging leading to imprecise descriptions of resistance in each taxon.

Sexual dysfunction in cystic fibrosis.

Background: Sexual dysfunction (erectile dysfunction in males, sexual dissatisfaction, sexual interest/arousal disorders, and dyspareunia in females) has not been the subject of indepth research in people with cystic fibrosis (CF). This study aimed to determine the prevalence of sexual dysfunction in adults with CF, factors associated with sexual dysfunction, and the impact of sexual dysfunction on quality of life.

Method: We conducted a multicentre study in adults with cystic fibrosis followed in specialist centres in Western France.

Multisystemic Effects of Elexacaftor-Tezacaftor-Ivacaftor in Adults with Cystic Fibrosis and Advanced Lung Disease.

Limited data exist on the safety and effectiveness of elexacaftor-tezacaftor-ivacaftor (ETI) in people with cystic fibrosis (pwCF) and advanced lung disease. To evaluate the effects of ETI in an unselected population of pwCF and advanced lung disease. A prospective observational study, including all adults aged 18 years and older with percentage predicted forced expiratory volume in 1 second (ppFEV) ⩽ 40 who initiated ETI from December 2019 to June 2021 in France, was conducted.

[Cystic fibrosis in Morroco : what do words mean without action ?].

It is estimated that in highly medicalised countries, median life expectancy for most newborns with cystic fibrosis now exceeds 70 years, approaching that of the general population. However, socio-economic disparities between countries continue to have a devastating impact on the prognosis of patients in Eastern Europe, Africa, India and South America. In Morocco, very limited genetic data suggest that the prevalence of this disease is at least of the same order as in Belgium.

Prevalence and variability of siderophore production in the genus.

Unlabelled: spp. are opportunistic pathogens of environmental origin increasingly isolated in patients with underlying conditions like cystic fibrosis (CF). Despite recent advances, their virulence factors remain incompletely studied, and siderophore production has not yet been investigated in this genus.

Prevalence and severity of functional urinary and anorectal disorders and their impact on quality of life in cystic fibrosis.

Background: In cystic fibrosis (CF), coughing is associated with a risk of pelvic floor dysfunction. However, data on the prevalence of symptoms (stress urinary incontinence, bladder overactivity, dysuria, and faecal incontinence) are lacking in males and females with CF. The impact of incontinence on adherence to respiratory care has not been studied.

Highly diverse dynamics of Pseudomonas aeruginosa colonization from initial detection in cystic fibrosis patients: A 7-year longitudinal genetic diversity study.

In cystic fibrosis (CF), Pseudomonas aeruginosa (Pa) is a major pathogen that can persistently colonize patients. Genetic studies showed a high diversity of Pa, the success of widespread or 'international' clones and described epidemic clones in CF and Epidemic High-Risk (ERH) clones. Here, we characterized Pa genetic diversity over time after first colonization in CF patients, with the aim of accurately describing the dynamics of colonization in a context of scarce longitudinal studies including the first isolated Pa strain.

Theratyping cystic fibrosis patients to guide elexacaftor/tezacaftor/ivacaftor out-of-label prescription.

Background: Around 20% of people with cystic fibrosis (pwCF) do not have access to the triple combination elexacaftor/tezacaftor/ivacaftor (ETI) in Europe because they do not carry the F508del allele on the CF transmembrane conductance regulator () gene. Considering that pwCF carrying rare variants may benefit from ETI, including variants already validated by the US Food and Drug Administration (FDA), a compassionate use programme was launched in France. PwCF were invited to undergo a nasal brushing to investigate whether the pharmacological rescue of CFTR activity by ETI in human nasal epithelial cell (HNEC) cultures was predictive of the clinical response.

[Recurrent atelectasis in an infant : about one case of false-negative newborn screening for cystic fibrosis].

In infants as well as in older children, persistent or recurrent atelectasis remains a classic indication for sweat testing, even if neonatal screening for cystic fibrosis has been considered normal. Atelectasis is a common complication of cystic fibrosis. Yet, it has rarely been reported in infants.

Ex-vivo effects of intrapulmonary percussive ventilation on sputum rheological properties.

Intrapulmonary percussive ventilation (IPV) has been postulated to enhance mucociliary clearance by improving tracheobronchial sputum rheological properties. The IPV effects on linear (viscoelasticity) and non-linear (flowing) rheological properties of 40 sputum samples collected from 19 patients with muco-obstructive lung diseases were investigated ex-vivo. Each sputum sample was split into 4 aliquots.

Nonsense mutations accelerate lung disease and decrease survival of cystic fibrosis children.

Rationale: Limited information is available on the clinical status of people with Cystic Fibrosis (pwCF) carrying 2 nonsense mutations (PTC/PTC). The main objective of this study was to compare disease severity between pwCF PTC/PTC, compound heterozygous for F508del and PTC (F508del/PTC) and homozygous for F508del (F508del+/+).

Methods: Based on the European CF Society Patient Registry clinical data of pwCF living in high and middle income European and neighboring countries, PTC/PTC (n = 657) were compared with F508del+/+ (n = 21,317) and F508del/PTC(n = 4254).

Generating High-Resolution Synthetic CT from Lung MRI with Ultrashort Echo Times: Initial Evaluation in Cystic Fibrosis.

Background Lung MRI with ultrashort echo times (UTEs) enables high-resolution and radiation-free morphologic imaging; however, its image quality is still lower than that of CT. Purpose To assess the image quality and clinical applicability of synthetic CT images generated from UTE MRI by a generative adversarial network (GAN). Materials and Methods This retrospective study included patients with cystic fibrosis (CF) who underwent both UTE MRI and CT on the same day at one of six institutions between January 2018 and December 2022.