Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.

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.

Pediatric long-term noninvasive respiratory support in children with central nervous system disorders.

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.

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.

Screening strategies for glucose tolerance abnormalities and diabetes in people with cystic fibrosis.

The increase in life expectancy of patients with cystic fibrosis has come with new comorbidities, particularly diabetes. The gradual development of glucose tolerance abnormalities means that 30 to 40% of adults will be diabetic. Cystic fibrosis-related diabetes is a major challenge in the care of these patients because it is a morbidity and mortality factor at all stages of the disease.

Long term noninvasive ventilation and continuous positive airway pressure in children with neuromuscular diseases in France.

The aim of the study was to describe the characteristics of children with neuromuscular diseases treated with long term noninvasive ventilation or continuous positive airway pressure in France. On June 1st 2019, 387 patients (63% boys, mean age 11.2 ± 5.

Paediatric long term continuous positive airway pressure and noninvasive ventilation in France: A cross-sectional study.

Objective: To describe the characteristics of children treated with long term continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in France.

Design: Cross-sectional national survey.

Setting: Paediatric CPAP/NIV teams of 28 tertiary university hospitals in France.

Respiratory management of children with spinal muscular atrophy (SMA).

Spinal muscular atrophy (SMA) causes a predominantly bilateral proximal muscle weakness and atrophy. The respiratory muscles are also involved with a weakness of the intercostal muscles and a relatively spared diaphragm. This respiratory muscle weakness translates into a cough impairment, resulting in poor clearance of airway secretions and recurrent pulmonary infections, restrictive lung disease due to a poor or insufficient chest wall and lung growth, nocturnal hypoventilation and, finally, respiratory failure.

Lessons from a French collaborative case-control study in cystic fibrosis patients during the 2009 A/H1N1 influenza pandemy.

Background: Viral infections such as influenza are thought to impact respiratory parameters and to promote infection with Pseudomonas aeruginosa in patients with cystic fibrosis (CF). However, the real morbidity of the influenza virus in CF needs to be further investigated because previous studies were only observational.

Methods: CF patients were included in a case-control study (n = 44 cases and n = 371 controls) during the 2009 pandemic A/H1N1 influenza.

[Recommendations for pediatric oxygen therapy in acute and chronic settings: Needs assessment, implementation criteria, prescription practices and follow-up].

Recommendations for acute and long-term oxygen therapy (needs assessment, implementation criteria, prescription practices, and follow-up) in children were produced by the Groupe de Recherche sur les Avancées en Pneumo-Pédiatrie (GRAPP) under the auspices of the French Paediatric Pulmonology and Allergology Society (SP2A). The Haute Autorité de Santé (HAS) methodology, based on the Formalized Consensus, was used. A first panel of experts analyzed the English and French literature to provide a second panel of experts with recommendations to validate.

ISPa46, a novel insertion sequence in the oprD porin gene of an imipenem-resistant Pseudomonas aeruginosa isolate from a cystic fibrosis patient in Marseille, France.

Clinical isolates of Pseudomonas aeruginosa exhibiting high-level resistance to carbapenems were recovered from a French patient with cystic fibrosis (CF) who had not received carbapenem therapy. This study was conducted to investigate the molecular mechanism conferring the carbapenem-resistant phenotype in clinical isolates of P. aeruginosa recovered from the same CF patient chronically colonised since 2005.

Long-term mechanical ventilation equipment for neuromuscular patients: meeting the expectations of patients and prescribers.

Background: To maximize the likelihood of successful long-term mechanical ventilation (MV) in patients with neuromuscular diseases, ventilator characteristics and settings must be chosen carefully, taking into account both medical requisites and the patient's preference and comfort.

Objectives: To evaluate patients' knowledge about and comfort with their long-term MV; to compare patients' and prescribers' opinions and expectations regarding long-term MV; and to compare the equipment used by the patients to the prescribers' current MV prescription.

Methods: Neuromuscular patients receiving long-term MV, and home MV prescribers in Belgium and France were asked to respond to a questionnaire survey specifically developed for the study.

Evaluation of colistin susceptibility in multidrug-resistant clinical isolates from cystic fibrosis, France.

The emergence of multidrug-resistant (MDR) bacteria in cystic fibrosis (CF) patients has led to the use of colistin drug and the emergence of colistin-resistant Gram-negative bacteria. The aim of this study was to compare the disk diffusion and Etest methods for colistin susceptibility testing on MDR bacteria associated with CF from Marseille, France. Forty-nine MDR clinical isolates (27 Stenotrophomonas maltophilia, 22 Achromobacter xylosoxidans) were used in this study.

Sleep quality and nocturnal hypoxaemia and hypercapnia in children and young adults with cystic fibrosis.

Objectives: The aim of the study was to evaluate sleep quality and nocturnal gas exchange in patients with cystic fibrosis (CF) and to assess if sleep quality and daytime lung function could predict nocturnal hypoxaemia or hypercapnia.

Study Design: Daytime sleepiness and objective sleep quality were evaluated by the Pittsburgh Sleep Quality Index (PSQI) and actigraphy in 25 children and 55 young adults (mean age 24±10 years, forced expiratory volume in 1 s (FEV(1)) 41±11% predicted). Nocturnal gas exchange was assessed by pulse oximetry (SpO(2)) and transcutaneous carbon dioxide (PtcCO(2)) recordings.

Soluble squalamine tablets for the rapid disinfection of home nebulizers of cystic fibrosis patients.

Background: The bacterial contamination of nebulizers represents a major problem for cystic fibrosis (CF) patients that can lead to reduced nebulizer performance and increase the risk of patient reinfection by the contaminating bacteria.

Objective: We investigated the potential use of squalamine, a broad-spectrum antimicrobial compound, as a nebulizer disinfectant.

Methods: Pari LC nebulizers were artificially contaminated with a suspension of bacteria (Staphylococcus aureus and Pseudomonas aeruginosa; 10(8) CFU/mL) and fungi (Candidida albicans and Aspergilus niger; 10(7) CFU/mL) and then disinfected by immersion in squalamine solution for 20 min.

Pulmonary acceleration time to optimize the timing of lung transplant in cystic fibrosis.

Pulmonary hypertension (PH) may affect survival in cystic fibrosis (CF) and can be assessed on echocardiographic measurement of the pulmonary acceleration time (PAT). The study aimed at evaluating PAT as a tool to optimize timing of lung transplant in CF patients. Prospective multicenter longitudinal study of patients with forced expiratory volume in 1 second (FEV1) ≤60% predicted.

[Recommendations for pediatric oxygen therapy in acute and chronic settings: needs assessment, implementation criteria, prescription practices and follow-up].

Recommendations for acute and long-term oxygen therapy (needs assessment, implementation criteria, prescription practices, and follow-up) in children were produced by the Groupe de Recherche sur les Avancées en Pneumo-Pédiatrie (GRAPP) under the auspices of the French Paediatric Pulmonology and Allergology Society (SP2A). The Haute Autorité de Santé (HAS) methodology, based on the Formalized Consensus, was used. A first panel of experts analyzed the English and French literature to provide a second panel of experts with recommendations to validate.

Mycobacterium chimaera pulmonary infection complicating cystic fibrosis: a case report.

Background: Mycobacterium chimaera is a recently described species within the Mycobacterium avium complex. Its pathogenicity in respiratory tract infection remains disputed. It has never been isolated during cystic fibrosis respiratory tract infection.

Outbreak of Corynebacterium pseudodiphtheriticum infection in cystic fibrosis patients, France.

An increasing body of evidence indicates that nondiphtheria corynebacteria may be responsible for respiratory tract infections. We report an outbreak of Corynebacterium pseudodiphtheriticum infection in children with cystic fibrosis (CF). To identify 18 C.

Nocardia farcinica lung infection in a patient with cystic fibrosis: a case report.

Introduction: Respiratory tract infections are the major causes of morbidity and mortality in patients with cystic fibrosis. Nocardia are rarely implicated in these infections and few reports of the involvement of this species are found in the literature.

Case Presentation: We describe a case of lung infection followed by chronic colonization of trimethoprim and sulfamethoxazole resistant Nocardia farcinica in a patient with cystic fibrosis.

[Value of continuous glucose monitoring in screening for diabetes in cystic fibrosis].

Aims: In the past few years, survival has increased for people with cystic fibrosis (CF). Diabetes is an important complication of CF caused by pancreatic insufficiency, which reduces insulin secretion. Because of increased longevity of patients with CF, the prevalence of CF-related diabetes (CFRD) has increased.